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Asph aspartate-beta-hydroxylase [ Mus musculus (house mouse) ]

Gene ID: 65973, updated on 16-Oct-2021

Summary

Official Symbol
Asphprovided by MGI
Official Full Name
aspartate-beta-hydroxylaseprovided by MGI
Primary source
MGI:MGI:1914186
See related
Ensembl:ENSMUSG00000028207
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
BAH; cI-37; C79816; AI848629; AW261690; AW561901; 2310005F16Rik; 3110001L23Rik
Expression
Ubiquitous expression in cerebellum adult (RPKM 12.3), heart adult (RPKM 7.8) and 24 other tissues See more
Orthologs
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Genomic context

See Asph in Genome Data Viewer
Location:
4; 4 A1
Exon count:
30
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (9449085..9669344, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (9449085..9669344, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (9376232..9596309, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene clavesin 1 Neighboring gene predicted gene 11816 Neighboring gene small nucleolar RNA SNORA48 Neighboring gene NIMA (never in mitosis gene a)-related expressed kinase 2 pseudogene Neighboring gene predicted gene, 24152 Neighboring gene predicted gene, 34947

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calcium ion binding ISO
Inferred from Sequence Orthology
more info
 
enables dioxygenase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
enables peptidyl-aspartic acid 3-dioxygenase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in activation of cysteine-type endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
involved_in activation of store-operated calcium channel activity ISO
Inferred from Sequence Orthology
more info
 
involved_in calcium ion homeostasis ISO
Inferred from Sequence Orthology
more info
 
involved_in calcium ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to calcium ion ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within face morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of cell population proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within pattern specification process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in peptidyl-amino acid modification IEA
Inferred from Electronic Annotation
more info
 
involved_in peptidyl-aspartic acid hydroxylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within peptidyl-aspartic acid hydroxylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of calcium ion transport into cytosol ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of intracellular protein transport ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of proteolysis ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of cytosolic calcium ion concentration ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of protein depolymerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of protein stability IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to ATP ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within roof of mouth development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cortical endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in integral component of endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
 
located_in integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
aspartyl/asparaginyl beta-hydroxylase
Names
ASP beta-hydroxylase
aspartly beta-hydroxylase
aspartyl beta-hydroxylase Humbug
calsequestrin-binding protein
jumbug
junctate
junctin
peptide-aspartate beta-dioxygenase
NP_001171320.1
NP_001171321.1
NP_001171322.1
NP_001171323.1
NP_001171324.1
NP_001171325.1
NP_001171326.1
NP_001171327.1
NP_001277296.1
NP_075553.2
NP_598484.2
XP_006538222.1
XP_017175829.1
XP_017175830.1
XP_017175831.1
XP_017175832.1
XP_017175833.1
XP_017175834.1
XP_036020189.1
XP_036020190.1
XP_036020191.1
XP_036020192.1
XP_036020193.1
XP_036020194.1
XP_036020195.1
XP_036020196.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

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.

mRNA and Protein(s)

  1. NM_001177849.1NP_001171320.1  aspartyl/asparaginyl beta-hydroxylase isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant lacks an alternate, in-frame coding exon, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AK035735, AK049506, AL671970, BY268464
    Consensus CDS
    CCDS51114.1
    UniProtKB/TrEMBL
    A2AL85, Q8BQK0, Q8CBM2
    Related
    ENSMUSP00000103977.3, ENSMUST00000108340.9
    Conserved Domains (5) summary
    pfam05279
    Location:63290
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    sd00006
    Location:425449
    TPR; TPR repeat [structural motif]
    pfam05118
    Location:558711
    Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
    pfam13428
    Location:312351
    TPR_14; Tetratricopeptide repeat
    pfam13432
    Location:312382
    TPR_16; Tetratricopeptide repeat
  2. NM_001177850.1NP_001171321.1  aspartyl/asparaginyl beta-hydroxylase isoform 4

    See identical proteins and their annotated locations for NP_001171321.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks much of the 3' coding region and contains a different segment for its 3' coding and UTR segments, compared to variant 1. The resulting protein (isoform 4) has a shorter and distinct C-terminus when it is compared to isoform 1.
    Source sequence(s)
    AK030293, AK160984, BP767098, BY268464
    Consensus CDS
    CCDS51116.1
    UniProtKB/Swiss-Prot
    Q8BSY0
    UniProtKB/TrEMBL
    A2AL81, Q3TU40
    Related
    ENSMUSP00000081978.5, ENSMUST00000084915.11
    Conserved Domains (1) summary
    pfam05279
    Location:63307
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  3. NM_001177851.1NP_001171322.1  aspartyl/asparaginyl beta-hydroxylase isoform 5

    See identical proteins and their annotated locations for NP_001171322.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate, in-frame exon, much of the 3' coding region and contains a different segment for its 3' coding and UTR segments, compared to variant 1. The resulting protein (isoform 5) has a shorter and distinct C-terminus when it is compared to isoform 1.
    Source sequence(s)
    AK160984, BP767098, BY268464
    Consensus CDS
    CCDS51115.1
    UniProtKB/TrEMBL
    Q3TU40
    Related
    ENSMUSP00000103974.2, ENSMUST00000108337.8
    Conserved Domains (1) summary
    pfam05279
    Location:63291
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  4. NM_001177852.1NP_001171323.1  aspartyl/asparaginyl beta-hydroxylase isoform 6

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) has multiple differences which result in distinct UTRs and coding end regions, compared to variant 1. The resulting protein (isoform 6) is shorter and has distinct N- and C-termini when it is compared to isoform 1.
    Source sequence(s)
    AK030293, AK030694, AK160984, AL773548, BP767098
    Consensus CDS
    CCDS51112.1
    UniProtKB/Swiss-Prot
    Q8BSY0
    UniProtKB/TrEMBL
    A2AL75, Q3TU40, Q9CR06
    Related
    ENSMUSP00000103971.2, ENSMUST00000108334.8
    Conserved Domains (1) summary
    pfam05279
    Location:25269
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  5. NM_001177853.1NP_001171324.1  aspartyl/asparaginyl beta-hydroxylase isoform 7

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) has multiple differences which result in distinct UTRs and coding end regions, compared to variant 1. The resulting protein (isoform 7) is shorter and has distinct N- and C-termini when it is compared to isoform 1.
    Source sequence(s)
    AK030293, AK030694, AK160984, AL773548, BP767098
    Consensus CDS
    CCDS51113.1
    UniProtKB/Swiss-Prot
    Q8BSY0
    UniProtKB/TrEMBL
    A2AL76, Q3TU40, Q9CR06
    Related
    ENSMUSP00000103970.2, ENSMUST00000108333.8
    Conserved Domains (1) summary
    pfam05279
    Location:25258
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  6. NM_001177854.1NP_001171325.1  aspartyl/asparaginyl beta-hydroxylase isoform 9

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) has multiple differences which result in distinct UTRs and coding end regions, compared to variant 1. The resulting protein (isoform 9) is shorter and has distinct N- and C-termini when it is compared to isoform 1.
    Source sequence(s)
    AK030293, AK030694, AK160984, AL773548, BP767098
    Consensus CDS
    CCDS51111.1
    UniProtKB/Swiss-Prot
    Q8BSY0
    UniProtKB/TrEMBL
    A2AL74, Q3TU40, Q9CR06
    Related
    ENSMUSP00000103972.2, ENSMUST00000108335.8
    Conserved Domains (1) summary
    pfam05279
    Location:25212
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  7. NM_001177855.1NP_001171326.1  aspartyl/asparaginyl beta-hydroxylase isoform 8

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) lacks much of the 3' coding region and contains different segments for its 3' coding and UTR segments, compared to variant 1. The resulting protein (isoform 8) has a shorter and distinct C-terminus when it is compared to isoform 1.
    Source sequence(s)
    AK009170, AK030293, AK030694, BY268464
    Consensus CDS
    CCDS51117.1
    UniProtKB/Swiss-Prot
    Q8BSY0
    UniProtKB/TrEMBL
    A2AL78, Q9CR06, Q9D7J8
    Related
    ENSMUSP00000049018.7, ENSMUST00000038564.13
    Conserved Domains (1) summary
    pfam05279
    Location:63225
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  8. NM_001177856.1NP_001171327.1  aspartyl/asparaginyl beta-hydroxylase isoform 10

    See identical proteins and their annotated locations for NP_001171327.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) has multiple differences which result in a distinct 3' coding region and 3' UTR, compared to variant 1. The resulting protein (isoform 10) is shorter and has a distinct C-terminus when it is compared to isoform 1.
    Source sequence(s)
    AK032420, BC061098, BQ176256, BY268464
    Consensus CDS
    CCDS51118.1
    UniProtKB/TrEMBL
    Q6P8S1
    Related
    ENSMUSP00000116899.2, ENSMUST00000146441.8
    Conserved Domains (1) summary
    pfam05279
    Location:63155
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  9. NM_001290367.1NP_001277296.1  aspartyl/asparaginyl beta-hydroxylase isoform 11 precursor

    See identical proteins and their annotated locations for NP_001277296.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11) differs in the 5' UTR and 5' coding region, initiates translation at a downstream start codon and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 11, which is shorter than isoform 1.
    Source sequence(s)
    AK030293, AK035735, AL671970
    Consensus CDS
    CCDS71341.1
    UniProtKB/Swiss-Prot
    Q8BSY0
    UniProtKB/TrEMBL
    Q8CBM2
    Related
    ENSMUSP00000103976.2, ENSMUST00000108339.8
    Conserved Domains (5) summary
    pfam05279
    Location:1223
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    sd00006
    Location:358382
    TPR; TPR repeat [structural motif]
    pfam05118
    Location:491644
    Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
    pfam13428
    Location:245284
    TPR_14; Tetratricopeptide repeat
    pfam13432
    Location:245315
    TPR_16; Tetratricopeptide repeat
  10. NM_023066.3NP_075553.2  aspartyl/asparaginyl beta-hydroxylase isoform 1

    See identical proteins and their annotated locations for NP_075553.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
    Source sequence(s)
    AK030293, AL671970, BY268464
    Consensus CDS
    CCDS38690.1
    UniProtKB/Swiss-Prot
    Q8BSY0
    Related
    ENSMUSP00000077273.7, ENSMUST00000078139.13
    Conserved Domains (5) summary
    pfam05279
    Location:63306
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    sd00006
    Location:441465
    TPR; TPR repeat [structural motif]
    pfam05118
    Location:574727
    Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
    pfam13428
    Location:328367
    TPR_14; Tetratricopeptide repeat
    pfam13432
    Location:328398
    TPR_16; Tetratricopeptide repeat
  11. NM_133723.2NP_598484.2  aspartyl/asparaginyl beta-hydroxylase isoform 2

    See identical proteins and their annotated locations for NP_598484.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences which result in distinct UTRs and coding end regions, compared to variant 1. The resulting protein (isoform 2) is shorter and has distinct N- and C-termini when it is compared to isoform 1.
    Source sequence(s)
    AK009170, AK030694, AL773548
    Consensus CDS
    CCDS17959.1
    UniProtKB/TrEMBL
    Q9CR06, Q9D7J8
    Related
    ENSMUSP00000100069.4, ENSMUST00000103004.10
    Conserved Domains (1) summary
    pfam05279
    Location:25187
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    9449085..9669344 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036164303.1XP_036020196.1  aspartyl/asparaginyl beta-hydroxylase isoform X10

    Conserved Domains (1) summary
    pfam05279
    Location:1300
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  2. XM_036164302.1XP_036020195.1  aspartyl/asparaginyl beta-hydroxylase isoform X8

    Conserved Domains (1) summary
    pfam05279
    Location:1315
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  3. XM_017320344.3XP_017175833.1  aspartyl/asparaginyl beta-hydroxylase isoform X13

    Conserved Domains (1) summary
    pfam05279
    Location:63282
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  4. XM_036164297.1XP_036020190.1  aspartyl/asparaginyl beta-hydroxylase isoform X2

    Conserved Domains (1) summary
    pfam05279
    Location:63367
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  5. XM_017320342.1XP_017175831.1  aspartyl/asparaginyl beta-hydroxylase isoform X11

    Conserved Domains (1) summary
    pfam05279
    Location:63297
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  6. XM_017320341.1XP_017175830.1  aspartyl/asparaginyl beta-hydroxylase isoform X9

    Conserved Domains (1) summary
    pfam05279
    Location:63306
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  7. XM_017320340.1XP_017175829.1  aspartyl/asparaginyl beta-hydroxylase isoform X7

    Conserved Domains (1) summary
    pfam05279
    Location:63322
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  8. XM_036164299.1XP_036020192.1  aspartyl/asparaginyl beta-hydroxylase isoform X4

    Conserved Domains (1) summary
    pfam05279
    Location:63357
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  9. XM_036164298.1XP_036020191.1  aspartyl/asparaginyl beta-hydroxylase isoform X3

    Conserved Domains (1) summary
    pfam05279
    Location:63366
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  10. XM_036164296.1XP_036020189.1  aspartyl/asparaginyl beta-hydroxylase isoform X1

    Conserved Domains (1) summary
    pfam05279
    Location:63382
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  11. XM_036164300.1XP_036020193.1  aspartyl/asparaginyl beta-hydroxylase isoform X5

    Conserved Domains (1) summary
    pfam05279
    Location:25344
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  12. XM_036164301.1XP_036020194.1  aspartyl/asparaginyl beta-hydroxylase isoform X6

    Conserved Domains (1) summary
    pfam05279
    Location:25329
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  13. XM_017320343.3XP_017175832.1  aspartyl/asparaginyl beta-hydroxylase isoform X12

    Conserved Domains (1) summary
    pfam05279
    Location:25284
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  14. XM_006538159.4XP_006538222.1  aspartyl/asparaginyl beta-hydroxylase isoform X14

    Conserved Domains (1) summary
    pfam05279
    Location:25202
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  15. XM_017320345.3XP_017175834.1  aspartyl/asparaginyl beta-hydroxylase isoform X15

    Conserved Domains (1) summary
    pfam05279
    Location:25117
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
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