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These reference sequences exist independently of genome builds. Explain
These reference sequences are curated independently of the genome
annotation cycle, so their versions may not match the RefSeq versions in the current
genome build. Identify version mismatches by comparing the version of the RefSeq in
this section to the one reported in Genomic regions,
transcripts, and products above.
Genomic
-
NG_012232.1 RefSeqGene
- Range
-
5001..2225382
- Download
- GenBank, FASTA, Sequence Viewer (Graphics), LRG_199
mRNA and Protein(s)
-
NM_000109.4 → NP_000100.3 dystrophin isoform Dp427c
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp427c is expressed predominantly in neurons of the cortex and the CA regions of the hippocampus. It uses a unique promoter/exon 1 located about 130 kb upstream of the Dp427m transcript promoter. The transcript includes the common exon 2 of transcript Dp427m and has a similar length of 14 kb. The Dp427c isoform contains a unique N-terminal MED sequence, instead of the MLWWEEVEDCY sequence of isoform Dp427m. The remainder of isoform Dp427c is identical to isoform Dp427m.
- Source sequence(s)
-
AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL050305, AL096699, AL109609, AL139278, AL451144
- UniProtKB/TrEMBL
-
A0A5H1ZRP8
- Conserved Domains (8) summary
-
- TIGR01612
Location:755 → 1930
- 235kDa-fam; reticulocyte binding/rhoptry protein
- COG5069
Location:2 → 224
- SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
- cd00176
Location:333 → 550
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:3051 → 3080
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3303 → 3351
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:3117 → 3278
- EFh_DMD; EF-hand-like motif found in dystrophin
- pfam00435
Location:2926 → 3031
- Spectrin; Spectrin repeat
- cl02488
Location:2313 → 2571
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_004006.3 → NP_003997.2 dystrophin isoform Dp427m
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp427m encodes the main dystrophin protein found in muscle. As a result of alternative promoter use, exon 1 encodes a unique N-terminal MLWWEEVEDCY aa sequence.
- Source sequence(s)
-
AC079177, AC079864, AL031542, AL031643, AL109609, BC028720, M18533
- Consensus CDS
-
CCDS14233.1
- UniProtKB/Swiss-Prot
- A1L0U9, E7EQR9, E7EQS5, E7ESB2, E9PDN1, E9PDN5, F5GZY3, F8VX32, P11532, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48, Q8N754, Q9UCW3, Q9UCW4
- UniProtKB/TrEMBL
-
A0A075B6G3
- Related
- ENSP00000354923.3, ENST00000357033.9
- Conserved Domains (9) summary
-
- TIGR01612
Location:763 → 1938
- 235kDa-fam; reticulocyte binding/rhoptry protein
- cd00176
Location:341 → 558
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:3059 → 3088
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3311 → 3359
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:3125 → 3286
- EFh_DMD; EF-hand-like motif found in dystrophin
- pfam00435
Location:2934 → 3040
- Spectrin; Spectrin repeat
- cd21231
Location:11 → 121
- CH_DMD_rpt1; first calponin homology (CH) domain found in dystrophin and similar proteins
- cd21233
Location:136 → 246
- CH_DMD_rpt2; second calponin homology (CH) domain found in dystrophin and similar proteins
- cl02488
Location:2321 → 2579
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_004009.3 → NP_004000.1 dystrophin isoform Dp427p1
See identical proteins and their annotated locations for NP_004000.1
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp427p1 initiates from a unique promoter/exon 1 located in what corresponds to the first intron of transcript Dp427m. The transcript adds the common exon 2 of Dp427m and has a similar length (14 kb). The Dp427p1 isoform replaces the MLWWEEVEDCY-start of Dp427m with a unique N-terminal MSEVSSD aa sequence.
- Source sequence(s)
-
AL049643, AL109609, BC028720, M18533, S64152
- Consensus CDS
-
CCDS55395.1
- UniProtKB/TrEMBL
-
A0A5H1ZRP8
- Related
- ENSP00000367948.2, ENST00000378677.6
- Conserved Domains (11) summary
-
- COG1340
Location:1700 → 1970
- COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
- cd00014
Location:131 → 236
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:337 → 554
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:3055 → 3084
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3307 → 3355
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam00435
Location:2930 → 3036
- Spectrin; Spectrin repeat
- pfam01442
Location:2890 → 3036
- Apolipoprotein; Apolipoprotein A1/A4/E domain
- pfam09068
Location:3085 → 3203
- EF-hand_2; EF hand
- pfam09069
Location:3207 → 3298
- EF-hand_3; EF-hand
- pfam16769
Location:3484 → 3667
- MCM3AP_GANP; MCM3AP domain of GANP
- cl02488
Location:1463 → 1672
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_004010.3 → NP_004001.1 dystrophin isoform Dp427p2
See identical proteins and their annotated locations for NP_004001.1
Status: REVIEWED
- Description
- Transcript Variant: The first exon of transcript Dp427p2 is 84 nt longer than the first exon of transcript Dp427p1. The additional length in Dp427p2 introduces a premature translational stop codon downstream of the ATG start codon used in the Dp427p1 transcript. The Dp427p2 transcript uses a downstream start codon compared to Dp427p1, and has unknown coding capacity.
- Source sequence(s)
-
AL049643, AL109609, BC028720, M18533, S64152
- UniProtKB/TrEMBL
-
A0A5H1ZRP8
- Conserved Domains (11) summary
-
- COG1340
Location:1581 → 1851
- COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
- cd00014
Location:12 → 117
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:218 → 435
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:2936 → 2965
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3188 → 3236
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam00435
Location:2811 → 2917
- Spectrin; Spectrin repeat
- pfam01442
Location:2771 → 2917
- Apolipoprotein; Apolipoprotein A1/A4/E domain
- pfam09068
Location:2966 → 3084
- EF-hand_2; EF hand
- pfam09069
Location:3088 → 3179
- EF-hand_3; EF-hand
- pfam16769
Location:3365 → 3548
- MCM3AP_GANP; MCM3AP domain of GANP
- cl02488
Location:1344 → 1553
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_004011.4 → NP_004002.3 dystrophin isoform Dp260-1
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp260-1 uses exons 30-79, and originates from a promoter/exon 1 sequence located in intron 29 of the dystrophin gene. As a result, Dp260-1 contains a 95 bp exon 1 encoding a unique N-terminal 16 aa MTEIILLIFFPAYFLN-sequence that replaces amino acids 1-1357 of the full-length dystrophin product (Dp427m isoform).
- Source sequence(s)
-
AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL109609, AL139278
- UniProtKB/TrEMBL
-
H0Y304
- Related
- ENSP00000350765.3, ENST00000358062.7
- Conserved Domains (7) summary
-
- TIGR01612
Location:32 → 597
- 235kDa-fam; reticulocyte binding/rhoptry protein
- COG1196
Location:354 → 1228
- Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
- cd00176
Location:764 → 979
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:1718 → 1747
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:1970 → 2018
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:1784 → 1945
- EFh_DMD; EF-hand-like motif found in dystrophin
- pfam00435
Location:1593 → 1698
- Spectrin; Spectrin repeat
-
NM_004012.4 → NP_004003.2 dystrophin isoform Dp260-2
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp260-2 uses exons 30-79, starting from a promoter/exon 1 sequence located in intron 29 of the dystrophin gene that is alternatively spliced and lacks N-terminal amino acids 1-1357 of the full length dystrophin (Dp427m isoform). The Dp260-2 transcript encodes a unique N-terminal MSARKLRNLSYKK sequence.
- Source sequence(s)
-
AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL109609, AL139278
- Consensus CDS
-
CCDS94586.1
- UniProtKB/TrEMBL
- A0A087WV90, H0Y304
- Related
- ENSP00000479270.2, ENST00000619831.5
- Conserved Domains (7) summary
-
- TIGR01612
Location:29 → 594
- 235kDa-fam; reticulocyte binding/rhoptry protein
- COG1196
Location:351 → 1225
- Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
- cd00176
Location:761 → 976
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:1715 → 1744
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:1967 → 2015
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:1781 → 1942
- EFh_DMD; EF-hand-like motif found in dystrophin
- pfam00435
Location:1590 → 1695
- Spectrin; Spectrin repeat
-
NM_004013.3 → NP_004004.2 dystrophin isoform Dp140
Status: REVIEWED
- Description
- Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140) contains all of the exons.
- Source sequence(s)
-
AC006061, AC078957, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
- Consensus CDS
-
CCDS48091.1
- UniProtKB/TrEMBL
- A0A5H1ZRQ1, A0A804HKR4
- Related
- ENSP00000367979.3, ENST00000378707.7
- Conserved Domains (6) summary
-
- COG1196
Location:975 → 1145
- Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
- cd00176
Location:230 → 473
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:599 → 628
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:851 → 899
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:665 → 826
- EFh_DMD; EF-hand-like motif found in dystrophin
- pfam00435
Location:474 → 580
- Spectrin; Spectrin repeat
-
NM_004014.3 → NP_004005.2 dystrophin isoform Dp116
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp116 uses exons 56-79, starting from a promoter/exon 1 within intron 55. As a result, the Dp116 isoform contains a unique N-terminal MLHRKTYHVK aa sequence, instead of aa 1-2739 of dystrophin. Differential splicing produces several Dp116-subtypes. The Dp116 isoform is also known as S-dystrophin or apo-dystrophin-2. This variant was curated in collaboration with Johann den Dunnen.
- Source sequence(s)
-
AC006061, AC078958, AC079143, AC079175, AC079177, AC090632
- UniProtKB/TrEMBL
-
A0A5H1ZRP7
- Related
- ENSP00000340057.4, ENST00000343523.7
- Conserved Domains (6) summary
-
- COG1196
Location:706 → 876
- Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
- cd00176
Location:10 → 204
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:330 → 359
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:582 → 630
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:396 → 557
- EFh_DMD; EF-hand-like motif found in dystrophin
- pfam00435
Location:205 → 311
- Spectrin; Spectrin repeat
-
NM_004015.3 → NP_004006.1 dystrophin isoform Dp71
See identical proteins and their annotated locations for NP_004006.1
Status: REVIEWED
- Description
- Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71) includes both exons 71 and 78.
- Source sequence(s)
-
AC006061, AC078958, BC028720, BC070078, BC094758
- Consensus CDS
-
CCDS14234.1
- UniProtKB/TrEMBL
- A0A0S2Z3B5, P78430, P78452, Q14205
- Related
- ENSP00000367974.4, ENST00000378702.8
- Conserved Domains (3) summary
-
- COG1196
Location:367 → 537
- Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
- cd02334
Location:243 → 291
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:57 → 218
- EFh_DMD; EF-hand-like motif found in dystrophin
-
NM_004016.3 → NP_004007.1 dystrophin isoform Dp71b
See identical proteins and their annotated locations for NP_004007.1
Status: REVIEWED
- Description
- Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71b) lacks exon 78 and encodes a protein with a different C-terminus than Dp71 and Dp71a isoforms.
- Source sequence(s)
-
AC006061, AC078958, BC028720, BC094758
- Consensus CDS
-
CCDS14231.1
- UniProtKB/TrEMBL
- A0A0S2Z3J7, P78430, P78452, Q14205
- Related
- ENSP00000367997.3, ENST00000378723.7
- Conserved Domains (3) summary
-
- COG1196
Location:367 → 537
- Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
- cd02334
Location:243 → 291
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:57 → 218
- EFh_DMD; EF-hand-like motif found in dystrophin
-
NM_004017.3 → NP_004008.1 dystrophin isoform Dp71a
See identical proteins and their annotated locations for NP_004008.1
Status: REVIEWED
- Description
- Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71a) lacks exon 71.
- Source sequence(s)
-
AC006061, AC078958, BC028720, BC070078, M92650
- Consensus CDS
-
CCDS94585.1
- UniProtKB/TrEMBL
-
A0A7P0T8I2
- Related
- ENSP00000507640.1, ENST00000682600.1
- Conserved Domains (3) summary
-
- COG1196
Location:354 → 524
- Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
- cd02334
Location:243 → 291
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:57 → 218
- EFh_DMD; EF-hand-like motif found in dystrophin
-
NM_004018.3 → NP_004009.1 dystrophin isoform Dp71ab
See identical proteins and their annotated locations for NP_004009.1
Status: REVIEWED
- Description
- Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71ab) lacks both exons 71 and 78 and encodes a protein with a C-terminus like isoform Dp71b.
- Source sequence(s)
-
AC006061, AC078958, BC028720, DB233002, M92650
- Consensus CDS
-
CCDS14232.1
- UniProtKB/TrEMBL
-
A0A7P0T8I2
- Related
- ENSP00000354464.4, ENST00000361471.8
- Conserved Domains (3) summary
-
- COG1196
Location:354 → 524
- Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
- cd02334
Location:243 → 291
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:57 → 218
- EFh_DMD; EF-hand-like motif found in dystrophin
-
NM_004019.3 → NP_004010.1 dystrophin isoform Dp40
See identical proteins and their annotated locations for NP_004010.1
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp40 uses exons 63-70. The 5' UTR and encoded first 7 aa are identical to that in transcript Dp71, but the stop codon lies at the splice junction of the exon/intron 70. The 3' UTR includes nt from intron 70 which includes an alternative polyadenylation site. The Dp40 isoform lacks the normal C-terminal end of full-length dystrophin (aa 3409-3685).
- Source sequence(s)
-
AC078958, M18533, S42206
- UniProtKB/Swiss-Prot
-
P11532
- UniProtKB/TrEMBL
-
Q16484
- Related
-
ENST00000681654.1
- Conserved Domains (2) summary
-
- cd02334
Location:243 → 291
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:57 → 218
- EFh_DMD; EF-hand-like motif found in dystrophin
-
NM_004020.4 → NP_004011.3 dystrophin isoform Dp140c
Status: REVIEWED
- Description
- Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140c) lacks exons 71-74.
- Source sequence(s)
-
AC006061, AC078957, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
- Consensus CDS
-
CCDS55394.1
- UniProtKB/TrEMBL
- A0A5H1ZRR9, A0A804HKR4
- Related
- ENSP00000444119.1, ENST00000541735.5
- Conserved Domains (5) summary
-
- cd00176
Location:230 → 473
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:599 → 628
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:851 → 899
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:665 → 826
- EFh_DMD; EF-hand-like motif found in dystrophin
- pfam00435
Location:474 → 580
- Spectrin; Spectrin repeat
-
NM_004021.3 → NP_004012.2 dystrophin isoform Dp140b
Status: REVIEWED
- Description
- Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140b) lacks exon 78 and encodes a protein with a unique C-terminus.
- Source sequence(s)
-
AC006061, AC078957, AC078958, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
- UniProtKB/TrEMBL
- A0A5H1ZRQ8, A7E212
- Related
- ENSP00000417123.1, ENST00000474231.5
- Conserved Domains (5) summary
-
- COG1196
Location:975 → 1145
- Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
- cd00176
Location:230 → 473
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:599 → 628
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:851 → 899
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:665 → 826
- EFh_DMD; EF-hand-like motif found in dystrophin
-
NM_004022.3 → NP_004013.2 dystrophin isoform D140ab
Status: REVIEWED
- Description
- Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140ab) lacks exons 71 and 78 and encodes a protein with a unique C-terminus.
- Source sequence(s)
-
AC006061, AC078957, AC078958, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
- Consensus CDS
-
CCDS14229.1
- UniProtKB/TrEMBL
- A0A5H1ZRP9, A7E212
- Related
- ENSP00000352894.1, ENST00000359836.5
- Conserved Domains (6) summary
-
- COG1196
Location:962 → 1132
- Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
- cd00176
Location:230 → 473
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:599 → 628
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:851 → 899
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:665 → 826
- EFh_DMD; EF-hand-like motif found in dystrophin
- pfam00435
Location:474 → 580
- Spectrin; Spectrin repeat
-
NM_004023.3 → NP_004014.2 dystrophin isoform Dp140bc
Status: REVIEWED
- Description
- Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140bc) lacks exons 71-74 and 78 and encodes a protein with a unique C-terminus.
- Source sequence(s)
-
AC006061, AC078957, AC078958, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
- Consensus CDS
-
CCDS14230.1
- UniProtKB/TrEMBL
- A0A804HKY9, A7E212
- Related
- ENSP00000508124.1, ENST00000682238.1
- Conserved Domains (4) summary
-
- cd00176
Location:230 → 473
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:599 → 628
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:851 → 899
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- cd16246
Location:665 → 826
- EFh_DMD; EF-hand-like motif found in dystrophin
The following sections contain reference sequences that belong to a
specific genome build. Explain
This section includes genomic Reference
Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as
RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate
assemblies. Model RNAs and proteins are also reported here.
Reference GRCh38.p14 Primary Assembly
Genomic
-
NC_000023.11 Reference GRCh38.p14 Primary Assembly
- Range
-
31119222..33339388 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_006724469.4 → XP_006724532.1 dystrophin isoform X2
- UniProtKB/TrEMBL
-
A0A5H1ZRP8
- Conserved Domains (11) summary
-
- COG1340
Location:1696 → 1966
- COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
- cd00014
Location:127 → 232
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:333 → 550
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:3051 → 3080
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3303 → 3351
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam00435
Location:2926 → 3032
- Spectrin; Spectrin repeat
- pfam01442
Location:2886 → 3032
- Apolipoprotein; Apolipoprotein A1/A4/E domain
- pfam09068
Location:3081 → 3199
- EF-hand_2; EF hand
- pfam09069
Location:3203 → 3294
- EF-hand_3; EF-hand
- pfam16769
Location:3480 → 3673
- MCM3AP_GANP; MCM3AP domain of GANP
- cl02488
Location:1459 → 1668
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
XM_011545467.2 → XP_011543769.1 dystrophin isoform X5
- UniProtKB/Swiss-Prot
- A1L0U9, E7EQR9, E7EQS5, E7ESB2, E9PDN1, E9PDN5, F5GZY3, F8VX32, P11532, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48, Q8N754, Q9UCW3, Q9UCW4
- Conserved Domains (11) summary
-
- COG1340
Location:1672 → 1933
- COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
- cd00014
Location:135 → 240
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:341 → 558
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:3018 → 3047
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3270 → 3318
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam00435
Location:2893 → 2999
- Spectrin; Spectrin repeat
- pfam01442
Location:2853 → 2999
- Apolipoprotein; Apolipoprotein A1/A4/E domain
- pfam09068
Location:3048 → 3166
- EF-hand_2; EF hand
- pfam09069
Location:3170 → 3261
- EF-hand_3; EF-hand
- pfam16769
Location:3447 → 3640
- MCM3AP_GANP; MCM3AP domain of GANP
- cl02488
Location:1467 → 1676
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
XM_006724473.3 → XP_006724536.1 dystrophin isoform X6
- UniProtKB/Swiss-Prot
- A1L0U9, E7EQR9, E7EQS5, E7ESB2, E9PDN1, E9PDN5, F5GZY3, F8VX32, P11532, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48, Q8N754, Q9UCW3, Q9UCW4
- Conserved Domains (10) summary
-
- cd00014
Location:135 → 240
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:341 → 558
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:3013 → 3042
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3265 → 3313
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam00435
Location:2888 → 2994
- Spectrin; Spectrin repeat
- pfam01442
Location:2848 → 2994
- Apolipoprotein; Apolipoprotein A1/A4/E domain
- pfam09068
Location:3043 → 3161
- EF-hand_2; EF hand
- pfam09069
Location:3165 → 3256
- EF-hand_3; EF-hand
- pfam16769
Location:3442 → 3635
- MCM3AP_GANP; MCM3AP domain of GANP
- cl02488
Location:1467 → 1676
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
XM_006724474.4 → XP_006724537.1 dystrophin isoform X7
- UniProtKB/Swiss-Prot
- A1L0U9, E7EQR9, E7EQS5, E7ESB2, E9PDN1, E9PDN5, F5GZY3, F8VX32, P11532, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48, Q8N754, Q9UCW3, Q9UCW4
- Conserved Domains (11) summary
-
- COG1340
Location:1704 → 1974
- COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
- cd00014
Location:135 → 240
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:341 → 558
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:3059 → 3088
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3311 → 3359
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam00435
Location:2934 → 3040
- Spectrin; Spectrin repeat
- pfam01442
Location:2894 → 3040
- Apolipoprotein; Apolipoprotein A1/A4/E domain
- pfam09068
Location:3089 → 3207
- EF-hand_2; EF hand
- pfam09069
Location:3211 → 3302
- EF-hand_3; EF-hand
- pfam16769
Location:3426 → 3571
- MCM3AP_GANP; MCM3AP domain of GANP
- cl02488
Location:1467 → 1676
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
XM_006724475.3 → XP_006724538.1 dystrophin isoform X8
- UniProtKB/Swiss-Prot
- A1L0U9, E7EQR9, E7EQS5, E7ESB2, E9PDN1, E9PDN5, F5GZY3, F8VX32, P11532, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48, Q8N754, Q9UCW3, Q9UCW4
- Conserved Domains (11) summary
-
- COG1340
Location:1704 → 1974
- COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
- cd00014
Location:135 → 240
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:341 → 558
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:3059 → 3088
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3311 → 3359
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam00435
Location:2934 → 3040
- Spectrin; Spectrin repeat
- pfam01442
Location:2894 → 3040
- Apolipoprotein; Apolipoprotein A1/A4/E domain
- pfam09068
Location:3089 → 3207
- EF-hand_2; EF hand
- pfam09069
Location:3211 → 3302
- EF-hand_3; EF-hand
- pfam16769
Location:3426 → 3561
- MCM3AP_GANP; MCM3AP domain of GANP
- cl02488
Location:1467 → 1676
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
XM_006724470.4 → XP_006724533.1 dystrophin isoform X3
- UniProtKB/Swiss-Prot
- A1L0U9, E7EQR9, E7EQS5, E7ESB2, E9PDN1, E9PDN5, F5GZY3, F8VX32, P11532, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48, Q8N754, Q9UCW3, Q9UCW4
- Conserved Domains (11) summary
-
- COG1340
Location:1704 → 1974
- COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
- cd00014
Location:135 → 240
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:341 → 558
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:3059 → 3088
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3311 → 3359
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam00435
Location:2934 → 3040
- Spectrin; Spectrin repeat
- pfam01442
Location:2894 → 3040
- Apolipoprotein; Apolipoprotein A1/A4/E domain
- pfam09068
Location:3089 → 3207
- EF-hand_2; EF hand
- pfam09069
Location:3211 → 3302
- EF-hand_3; EF-hand
- pfam16769
Location:3475 → 3668
- MCM3AP_GANP; MCM3AP domain of GANP
- cl02488
Location:1467 → 1676
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
XM_017029328.2 → XP_016884817.1 dystrophin isoform X4
- UniProtKB/Swiss-Prot
- A1L0U9, E7EQR9, E7EQS5, E7ESB2, E9PDN1, E9PDN5, F5GZY3, F8VX32, P11532, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48, Q8N754, Q9UCW3, Q9UCW4
-
XM_006724468.3 → XP_006724531.1 dystrophin isoform X1
- UniProtKB/Swiss-Prot
- A1L0U9, E7EQR9, E7EQS5, E7ESB2, E9PDN1, E9PDN5, F5GZY3, F8VX32, P11532, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48, Q8N754, Q9UCW3, Q9UCW4
- Conserved Domains (11) summary
-
- COG1340
Location:1704 → 1974
- COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
- cd00014
Location:135 → 240
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:341 → 558
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:3059 → 3088
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3311 → 3359
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam00435
Location:2934 → 3040
- Spectrin; Spectrin repeat
- pfam01442
Location:2894 → 3040
- Apolipoprotein; Apolipoprotein A1/A4/E domain
- pfam09068
Location:3089 → 3207
- EF-hand_2; EF hand
- pfam09069
Location:3211 → 3302
- EF-hand_3; EF-hand
- pfam16769
Location:3488 → 3681
- MCM3AP_GANP; MCM3AP domain of GANP
- cl02488
Location:1467 → 1676
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
XM_011545468.3 → XP_011543770.1 dystrophin isoform X9
- UniProtKB/Swiss-Prot
- A1L0U9, E7EQR9, E7EQS5, E7ESB2, E9PDN1, E9PDN5, F5GZY3, F8VX32, P11532, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48, Q8N754, Q9UCW3, Q9UCW4
- Conserved Domains (9) summary
-
- COG1340
Location:1704 → 1974
- COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
- cd00014
Location:135 → 240
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:341 → 558
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:3059 → 3088
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- pfam00435
Location:2934 → 3040
- Spectrin; Spectrin repeat
- pfam01442
Location:2894 → 3040
- Apolipoprotein; Apolipoprotein A1/A4/E domain
- pfam09068
Location:3089 → 3207
- EF-hand_2; EF hand
- pfam09069
Location:3211 → 3272
- EF-hand_3; EF-hand
- cl02488
Location:1467 → 1676
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
XM_017029330.3 → XP_016884819.1 dystrophin isoform X11
- UniProtKB/TrEMBL
-
A0A7D3U5L9
-
XM_017029329.2 → XP_016884818.1 dystrophin isoform X10
- UniProtKB/TrEMBL
-
A0A7D3U5L9
-
XM_047441889.1 → XP_047297845.1 dystrophin isoform X13
-
XM_011545469.2 → XP_011543771.1 dystrophin isoform X12
- UniProtKB/TrEMBL
-
A0A7D3U5L9
- Conserved Domains (4) summary
-
- cd00014
Location:135 → 240
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:341 → 558
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- pfam00435
Location:1679 → 1776
- Spectrin; Spectrin repeat
- cl02488
Location:1467 → 1676
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
Alternate T2T-CHM13v2.0
Genomic
-
NC_060947.1 Alternate T2T-CHM13v2.0
- Range
-
30717372..32937500 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_054326619.1 → XP_054182594.1 dystrophin isoform X2
-
XM_054326622.1 → XP_054182597.1 dystrophin isoform X5
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XM_054326623.1 → XP_054182598.1 dystrophin isoform X6
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XM_054326624.1 → XP_054182599.1 dystrophin isoform X7
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XM_054326625.1 → XP_054182600.1 dystrophin isoform X8
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XM_054326620.1 → XP_054182595.1 dystrophin isoform X3
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XM_054326621.1 → XP_054182596.1 dystrophin isoform X4
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XM_054326618.1 → XP_054182593.1 dystrophin isoform X1
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XM_054326631.1 → XP_054182606.1 dystrophin isoform X14
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XM_054326626.1 → XP_054182601.1 dystrophin isoform X9
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XM_054326628.1 → XP_054182603.1 dystrophin isoform X11
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XM_054326627.1 → XP_054182602.1 dystrophin isoform X10
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XM_054326630.1 → XP_054182605.1 dystrophin isoform X13
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XM_054326629.1 → XP_054182604.1 dystrophin isoform X12
The following Reference Sequences have been suppressed. Explain
These RefSeqs were suppressed for the
cited reason(s). Suppressed RefSeqs do not appear in BLAST databases, related
sequence links, or BLAST links (BLink), but may still be retrieved by clicking on
their accession.version below.
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NM_004007.2: Suppressed sequence
- Description
- NM_004007.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which appears to have been derived from a disease-associated deletion mutation.