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    Gtf2ird1 general transcription factor II I repeat domain-containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 57080, updated on 2-May-2024

    Summary

    Official Symbol
    Gtf2ird1provided by MGI
    Official Full Name
    general transcription factor II I repeat domain-containing 1provided by MGI
    Primary source
    MGI:MGI:1861942
    See related
    Ensembl:ENSMUSG00000023079 AllianceGenome:MGI:1861942
    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
    BEN; GTF3; ESTM9; Cream1; Gtf2il; MusTRD1; WBSCR11; 1700012P16Rik; Tg(Alb1-Myc)166.8Sst
    Summary
    Enables DNA-binding transcription factor activity. Acts upstream of or within transition between slow and fast fiber. Located in nucleus. Is expressed in several structures, including alimentary system; embryo mesenchyme; eye; genitourinary system; and nervous system. Used to study Williams-Beuren syndrome. Orthologous to human GTF2IRD1 (GTF2I repeat domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 16.4), CNS E11.5 (RPKM 13.0) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    5 G2; 5 74.55 cM
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (134386515..134485628, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (134357661..134456867, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46925 Neighboring gene predicted gene 7033 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:134920313-134920568 Neighboring gene STARR-seq mESC enhancer starr_14545 Neighboring gene ribosomal protein S28 pseudogene Neighboring gene STARR-seq mESC enhancer starr_14546 Neighboring gene CAP-GLY domain containing linker protein 2 Neighboring gene STARR-positive B cell enhancer ABC_E11305

    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)

    General gene information

    Markers

    Clone Names

    • MGC102438

    Gene Ontology Provided by MGI

    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    general transcription factor II-I repeat domain-containing protein 1
    Names
    Alb/c-myc line 166.8
    GTF2I repeat domain-containing 1
    GTF2I repeat domain-containing protein 1
    Williams-Beuren syndrome chromosome region 11
    binding factor for early enhancer
    c-myc line 166.8
    general transcription factor 3
    muscle TFII-I repeat domain-containing protein 1
    transcription factor GTF3 alpha 2
    transcription factor GTF3 gamma 2

    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_001081462.2NP_001074931.1  general transcription factor II-I repeat domain-containing protein 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and the 3' UTR, as compared to variant 1. The encoded isoform (b) has a longer and distinct C-terminus, as compared to isoform a.
      Source sequence(s)
      AC167419, AF257475, AI413504, CJ178886
      Consensus CDS
      CCDS39307.1
      UniProtKB/Swiss-Prot
      Q547E0, Q80WJ8, Q80WJ9, Q80WK0, Q80WK1, Q8R4X5, Q8R4X6, Q8R4X7, Q8R4X8, Q8VHD5, Q8VI58, Q9EQE7, Q9ESZ6, Q9ESZ7, Q9JI57
      UniProtKB/TrEMBL
      Q8BP10
      Related
      ENSMUSP00000098217.4, ENSMUST00000100652.10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    2. NM_001081463.2NP_001074932.1  general transcription factor II-I repeat domain-containing protein 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and the 3' UTR, as compared to variant 1. The encoded isoform (c) lacks an internal segment and has a longer and distinct C-terminus, as compared to isoform a.
      Source sequence(s)
      AC167419, AF343350, AI413504, AK078488, CJ178886
      Consensus CDS
      CCDS39306.1
      UniProtKB/TrEMBL
      Q8BP10
      Related
      ENSMUSP00000098215.4, ENSMUST00000100650.10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    3. NM_001081464.2NP_001074933.1  general transcription factor II-I repeat domain-containing protein 1 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the coding region, as compared to variant 1. The encoded isoform (d) lacks an internal segment, as compared to isoform a.
      Source sequence(s)
      BC050822, CJ178886
      Consensus CDS
      CCDS39304.1
      UniProtKB/TrEMBL
      Q5XJY7, Q6PD35
      Related
      ENSMUSP00000129392.3, ENSMUST00000171794.9
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    4. NM_001081465.1NP_001074934.1  general transcription factor II-I repeat domain-containing protein 1 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an in-frame coding exon, as compared to variant 1. The encoded isoform (d) lacks an internal segment, as compared to isoform a.
      Source sequence(s)
      AK078488, BC050822, BC083150, CJ048288
      Consensus CDS
      CCDS39304.1
      UniProtKB/TrEMBL
      Q5XJY7, Q6PD35
      Related
      ENSMUSP00000106875.2, ENSMUST00000111244.5
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    5. NM_001081466.2NP_001074935.1  general transcription factor II-I repeat domain-containing protein 1 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks two in-frame exons in the coding region, as compared to variant 1. The encoded isoform (e) lacks two segments, as compared to isoform a.
      Source sequence(s)
      AF343349, BC050822, CJ178886
      Consensus CDS
      CCDS39302.1
      UniProtKB/TrEMBL
      Q5XJY7
      Related
      ENSMUSP00000106876.3, ENSMUST00000111245.9
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    6. NM_001081467.2NP_001074936.1  general transcription factor II-I repeat domain-containing protein 1 isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 3' coding region and the 3' UTR, as compared to variant 1. The encoded isoform (f) lacks an internal segment and has a longer and distinct C-terminus, as compared to isoform a.
      Source sequence(s)
      AC167419, AF257475, AI413504, BC050822, CJ178886
      Consensus CDS
      CCDS51657.1
      UniProtKB/TrEMBL
      Q8BP10
      Related
      ENSMUSP00000073752.6, ENSMUST00000074114.12
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    7. NM_001081468.2NP_001074937.1  general transcription factor II-I repeat domain-containing protein 1 isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks three exons in the 3' coding region but maintains the reading frame, as compared to variant 1. The encoded isoform (g) lacks an internal segment, as compared to isoform a.
      Source sequence(s)
      BC050822, CJ178886
      Consensus CDS
      CCDS39303.1
      UniProtKB/TrEMBL
      A0A0J9YTX7
      Related
      ENSMUSP00000098219.4, ENSMUST00000100654.10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    8. NM_001081469.2NP_001074938.1  general transcription factor II-I repeat domain-containing protein 1 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) lacks three exons in the 3' coding region but maintains the reading frame, as compared to variant 1. The encoded isoform (h) lacks an internal segment, as compared to isoform a.
      Source sequence(s)
      AF257475, BC050822, CJ178886
      Consensus CDS
      CCDS80420.1
      UniProtKB/TrEMBL
      A0A0J9YTX7
      Related
      ENSMUSP00000143848.2, ENSMUST00000200944.4
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    9. NM_001081470.2NP_001074939.1  general transcription factor II-I repeat domain-containing protein 1 isoform i

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) lacks four exons in the 3' coding region but maintains the reading frame, as compared to variant 1. The encoded isoform (i) lacks two internal segments, as compared to isoform a.
      Source sequence(s)
      BC050822, CJ178886
      UniProtKB/TrEMBL
      A0A0J9YTX7
      Related
      ENSMUSP00000143897.2, ENSMUST00000202280.4
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    10. NM_001244936.1NP_001231865.1  general transcription factor II-I repeat domain-containing protein 1 isoform j

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) differs in the 3' coding region and the 3' UTR, as compared to variant 1. The encoded isoform (j) lacks two internal segments and has a longer and distinct C-terminus, as compared to isoform a.
      Source sequence(s)
      AC167419, AF257475, AI413504, BC050822, CJ178886
      UniProtKB/TrEMBL
      A0A0J9YTX7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    11. NM_001347488.1NP_001334417.1  general transcription factor II-I repeat domain-containing protein 1 isoform k

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) lacks two in-frame exons and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (k) lacks two alternate internal segments and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC167419
      Consensus CDS
      CCDS84967.1
      UniProtKB/TrEMBL
      Q8BP10
      Related
      ENSMUSP00000143809.2, ENSMUST00000202554.4
      Conserved Domains (1) summary
      pfam02946
      Location:565639
      GTF2I; GTF2I-like repeat
    12. NM_020331.3NP_065064.2  general transcription factor II-I repeat domain-containing protein 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the full-length transcript containing all exons of the gene. Variant 1 encodes isoform a.
      Source sequence(s)
      AF343348, BC050822, CJ178886
      Consensus CDS
      CCDS39305.1
      UniProtKB/TrEMBL
      Q5XJY7
      Related
      ENSMUSP00000072904.6, ENSMUST00000073161.12
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      134386515..134485628 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017321047.3XP_017176536.1  general transcription factor II-I repeat domain-containing protein 1 isoform X28

      UniProtKB/TrEMBL
      A0A0J9YTX7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    2. XM_017321046.3XP_017176535.1  general transcription factor II-I repeat domain-containing protein 1 isoform X27

      UniProtKB/TrEMBL
      A0A0J9YTX7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    3. XM_017321044.3XP_017176533.1  general transcription factor II-I repeat domain-containing protein 1 isoform X24

      UniProtKB/TrEMBL
      A0A0J9YTX7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    4. XM_017321045.3XP_017176534.1  general transcription factor II-I repeat domain-containing protein 1 isoform X25

      UniProtKB/TrEMBL
      A0A0J9YTX7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    5. XM_017321042.3XP_017176531.1  general transcription factor II-I repeat domain-containing protein 1 isoform X21

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    6. XM_036165372.1XP_036021265.1  general transcription factor II-I repeat domain-containing protein 1 isoform X14

      UniProtKB/TrEMBL
      Q5XJY7
      Conserved Domains (1) summary
      pfam02946
      Location:565639
      GTF2I; GTF2I-like repeat
    7. XM_006504462.4XP_006504525.1  general transcription factor II-I repeat domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    8. XM_030254729.2XP_030110589.1  general transcription factor II-I repeat domain-containing protein 1 isoform X12

      UniProtKB/TrEMBL
      Q5XJY7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    9. XM_017321043.3XP_017176532.1  general transcription factor II-I repeat domain-containing protein 1 isoform X22

      UniProtKB/TrEMBL
      A0A0J9YTX7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    10. XM_017321040.3XP_017176529.1  general transcription factor II-I repeat domain-containing protein 1 isoform X17

      UniProtKB/TrEMBL
      A0A0J9YTX7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    11. XM_036165370.1XP_036021263.1  general transcription factor II-I repeat domain-containing protein 1 isoform X11

      UniProtKB/TrEMBL
      Q5XJY7
      Conserved Domains (1) summary
      pfam02946
      Location:565639
      GTF2I; GTF2I-like repeat
    12. XM_011240895.3XP_011239197.1  general transcription factor II-I repeat domain-containing protein 1 isoform X9

      UniProtKB/TrEMBL
      Q5XJY7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    13. XM_011240891.3XP_011239193.1  general transcription factor II-I repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    14. XM_017321041.3XP_017176530.1  general transcription factor II-I repeat domain-containing protein 1 isoform X19

      UniProtKB/TrEMBL
      A0A0J9YTX7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    15. XM_011240894.3XP_011239196.1  general transcription factor II-I repeat domain-containing protein 1 isoform X7

      UniProtKB/TrEMBL
      Q5XJY7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    16. XM_011240890.3XP_011239192.1  general transcription factor II-I repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    17. XM_011240897.3XP_011239199.1  general transcription factor II-I repeat domain-containing protein 1 isoform X18

      UniProtKB/TrEMBL
      A0A0J9YTX7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    18. XM_011240896.3XP_011239198.1  general transcription factor II-I repeat domain-containing protein 1 isoform X16

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    19. XM_011240893.3XP_011239195.1  general transcription factor II-I repeat domain-containing protein 1 isoform X6

      UniProtKB/TrEMBL
      Q5XJY7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    20. XM_011240892.3XP_011239194.1  general transcription factor II-I repeat domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      Q5XJY7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    21. XM_011240885.3XP_011239187.1  general transcription factor II-I repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    22. XM_030254732.1XP_030110592.1  general transcription factor II-I repeat domain-containing protein 1 isoform X26

      UniProtKB/TrEMBL
      Q5XJY7
      Conserved Domains (1) summary
      pfam02946
      Location:422494
      GTF2I; GTF2I-like repeat
    23. XM_011240900.2XP_011239202.1  general transcription factor II-I repeat domain-containing protein 1 isoform X29

      Conserved Domains (1) summary
      pfam02946
      Location:349421
      GTF2I; GTF2I-like repeat
    24. XM_030254731.1XP_030110591.1  general transcription factor II-I repeat domain-containing protein 1 isoform X23

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:422494
      GTF2I; GTF2I-like repeat
    25. XM_030254733.1XP_030110593.1  general transcription factor II-I repeat domain-containing protein 1 isoform X30

      Conserved Domains (1) summary
      pfam02946
      Location:270342
      GTF2I; GTF2I-like repeat
    26. XM_036165377.1XP_036021270.1  general transcription factor II-I repeat domain-containing protein 1 isoform X32

      Conserved Domains (1) summary
      pfam02946
      Location:93167
      GTF2I; GTF2I-like repeat
    27. XM_011240886.4XP_011239188.1  general transcription factor II-I repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    28. XM_036165371.1XP_036021264.1  general transcription factor II-I repeat domain-containing protein 1 isoform X13

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:565639
      GTF2I; GTF2I-like repeat
    29. XM_036165378.1XP_036021271.1  general transcription factor II-I repeat domain-containing protein 1 isoform X33

      Conserved Domains (1) summary
      pfam02946
      Location:93167
      GTF2I; GTF2I-like repeat
    30. XM_030254730.2XP_030110590.1  general transcription factor II-I repeat domain-containing protein 1 isoform X13

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:565639
      GTF2I; GTF2I-like repeat
    31. XM_017321039.3XP_017176528.1  general transcription factor II-I repeat domain-containing protein 1 isoform X10

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    32. XM_017321038.2XP_017176527.1  general transcription factor II-I repeat domain-containing protein 1 isoform X5

      UniProtKB/Swiss-Prot
      Q547E0, Q80WJ8, Q80WJ9, Q80WK0, Q80WK1, Q8R4X5, Q8R4X6, Q8R4X7, Q8R4X8, Q8VHD5, Q8VI58, Q9EQE7, Q9ESZ6, Q9ESZ7, Q9JI57
      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    33. XM_011240889.2XP_011239191.1  general transcription factor II-I repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    34. XM_011240901.2XP_011239203.1  general transcription factor II-I repeat domain-containing protein 1 isoform X30

      Conserved Domains (1) summary
      pfam02946
      Location:270342
      GTF2I; GTF2I-like repeat
    35. XM_011240888.4XP_011239190.1  general transcription factor II-I repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    36. XM_011240887.2XP_011239189.1  general transcription factor II-I repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    37. XM_011240898.2XP_011239200.1  general transcription factor II-I repeat domain-containing protein 1 isoform X20

      UniProtKB/TrEMBL
      Q8BP10
      Conserved Domains (1) summary
      pfam02946
      Location:422494
      GTF2I; GTF2I-like repeat
    38. XM_036165376.1XP_036021269.1  general transcription factor II-I repeat domain-containing protein 1 isoform X31

      Conserved Domains (1) summary
      pfam02946
      Location:93167
      GTF2I; GTF2I-like repeat
    39. XM_036165373.1XP_036021266.1  general transcription factor II-I repeat domain-containing protein 1 isoform X15

      UniProtKB/TrEMBL
      Q5XJY7
      Conserved Domains (1) summary
      pfam02946
      Location:565639
      GTF2I; GTF2I-like repeat