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    GTF2IRD1 GTF2I repeat domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 9569, updated on 8-Jul-2021

    Summary

    Official Symbol
    GTF2IRD1provided by HGNC
    Official Full Name
    GTF2I repeat domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:4661
    See related
    Ensembl:ENSG00000006704 MIM:604318
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1
    Summary
    The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.1), esophagus (RPKM 4.7) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GTF2IRD1 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (74453906..74603070)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73868236..74016931)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NFE2L2 motif-containing MPRA enhancer 193 Neighboring gene CAP-Gly domain containing linker protein 2 Neighboring gene CAGE-defined high expression enhancer upstream of GTF2IRD1 Neighboring gene RNA, 5S ribosomal pseudogene 233 Neighboring gene Williams-Beuren syndrome chromosome region 23 Neighboring gene microRNA 10525 Neighboring gene GTF2I antisense RNA 1 Neighboring gene general transcription factor IIi Neighboring gene Williams-Beuren syndrome medial block B recombination region Neighboring gene prohibitin pseudogene 15

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-10-10)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-10-10)

    ClinGen Genome Curation Page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    General protein information

    Preferred Names
    general transcription factor II-I repeat domain-containing protein 1
    Names
    USE B1-binding protein
    Williams-Beuren syndrome chromosome region 11
    binding factor for early enhancer
    general transcription factor 3
    general transcription factor III
    muscle TFII-I repeat domain-containing protein 1 alpha 1
    slow-muscle-fiber enhancer-binding protein
    williams-Beuren syndrome chromosomal region 12 protein

    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.

    Genomic

    1. NG_027954.1 RefSeqGene

      Range
      5117..153812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199207.2NP_001186136.1  general transcription factor II-I repeat domain-containing protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001186136.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AF151354, AY648295
      Consensus CDS
      CCDS56492.1
      UniProtKB/Swiss-Prot
      Q9UHL9
      Related
      ENSP00000397566.2, ENST00000455841.6
      Conserved Domains (1) summary
      pfam02946
      Location:597669
      GTF2I; GTF2I-like repeat
    2. NM_005685.4NP_005676.3  general transcription factor II-I repeat domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_005676.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region, compared to variant 3. The encoded isoform (2) is shorter compared to isoform 3.
      Source sequence(s)
      AF118270, AF151354, AF156489, AY648295
      Consensus CDS
      CCDS47613.1
      UniProtKB/Swiss-Prot
      Q9UHL9
      Related
      ENSP00000408477.2, ENST00000424337.7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    3. NM_016328.3NP_057412.1  general transcription factor II-I repeat domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_057412.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses alternate splice sites in the coding region, compared to variant 3. The encoded isoform (1) is shorter compared to isoform 3.
      Source sequence(s)
      AF151354, AY648295, BC018136
      Consensus CDS
      CCDS5571.1
      UniProtKB/Swiss-Prot
      Q9UHL9
      Related
      ENSP00000265755.3, ENST00000265755.7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      74453906..74603070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716182.3XP_006716245.1  general transcription factor II-I repeat domain-containing protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006716245.1

      UniProtKB/TrEMBL
      E9PFE2
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    2. XM_011516713.1XP_011515015.1  general transcription factor II-I repeat domain-containing protein 1 isoform X6

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    3. XM_017012802.1XP_016868291.1  general transcription factor II-I repeat domain-containing protein 1 isoform X1

      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    4. XM_017012805.1XP_016868294.1  general transcription factor II-I repeat domain-containing protein 1 isoform X5

    5. XM_017012803.1XP_016868292.1  general transcription factor II-I repeat domain-containing protein 1 isoform X3

    6. XM_017012804.1XP_016868293.1  general transcription factor II-I repeat domain-containing protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q9UHL9
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    7. XM_006716183.3XP_006716246.1  general transcription factor II-I repeat domain-containing protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006716246.1

      UniProtKB/TrEMBL
      E9PFE2
      Related
      ENSP00000418383.1, ENST00000476977.5
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
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