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

    Gene ID: 9569, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:4661
    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
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GTF2IRD1 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (74453906..74602605)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75656184..75805371)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73868236..74016931)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986742 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73696998-73697628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18277 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73704091-73704735 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73704736-73705379 Neighboring gene Sharpr-MPRA regulatory region 1083 Neighboring gene NFE2L2 motif-containing MPRA enhancer 193 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73722243-73722881 Neighboring gene CAP-Gly domain containing linker protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73778293-73779164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73779165-73780034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73786483-73787481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73794630-73795130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73795131-73795631 Neighboring gene Sharpr-MPRA regulatory region 11240 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:73810181-73810370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73819861-73820723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73818996-73819860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18279 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73843950-73844923 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73848492-73849112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73849734-73850353 Neighboring gene CAGE-defined high expression enhancer upstream of GTF2IRD1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18281 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73892244-73892825 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73892826-73893408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73909445-73910043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73919312-73919812 Neighboring gene RNA, 5S ribosomal pseudogene 233 Neighboring gene Williams-Beuren syndrome chromosome region 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73995345-73995846 Neighboring gene Sharpr-MPRA regulatory region 2459 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74001529-74002116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74002117-74002703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74031162-74031727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74031728-74032292 Neighboring gene microRNA 10525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18288 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18287 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74075507-74076155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26175 Neighboring gene GTF2I antisense RNA 1 Neighboring gene general transcription factor IIi Neighboring gene Williams-Beuren syndrome medial block B recombination region Neighboring gene PHB1 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

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 

    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_027954.2 RefSeqGene

      Range
      5002..153701
      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/TrEMBL
      Q59FS0
      Related
      ENSP00000397566.2, ENST00000455841.6
      Conserved Domains (1) summary
      pfam02946
      Location:597669
      GTF2I; GTF2I-like repeat
    2. NM_001410888.1NP_001397817.1  general transcription factor II-I repeat domain-containing protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC004851, AC005015, AC211433
      Consensus CDS
      CCDS94121.1
      UniProtKB/TrEMBL
      E9PFE2
      Related
      ENSP00000418383.1, ENST00000476977.5
    3. 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/TrEMBL
      Q59FS0
      Related
      ENSP00000408477.2, ENST00000424337.7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    4. 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
      O95444, Q6DSU6, Q75MX7, Q86UM3, Q8WVC4, Q9UHK8, Q9UHL9, Q9UI91
      UniProtKB/TrEMBL
      Q59FS0
      Related
      ENSP00000265755.3, ENST00000265755.7
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      74453906..74602605
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421058.1XP_047277014.1  general transcription factor II-I repeat domain-containing protein 1 isoform X3

    2. XM_047421064.1XP_047277020.1  general transcription factor II-I repeat domain-containing protein 1 isoform X8

    3. XM_011516713.2XP_011515015.1  general transcription factor II-I repeat domain-containing protein 1 isoform X11

      UniProtKB/TrEMBL
      Q59FS0
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    4. XM_047421056.1XP_047277012.1  general transcription factor II-I repeat domain-containing protein 1 isoform X1

    5. XM_047421057.1XP_047277013.1  general transcription factor II-I repeat domain-containing protein 1 isoform X2

    6. XM_047421061.1XP_047277017.1  general transcription factor II-I repeat domain-containing protein 1 isoform X5

    7. XM_017012802.2XP_016868291.1  general transcription factor II-I repeat domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      Q59FS0
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    8. XM_006716182.4XP_006716245.1  general transcription factor II-I repeat domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_006716245.1

      UniProtKB/TrEMBL
      E9PFE2, Q59FS0
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    9. XM_017012805.2XP_016868294.1  general transcription factor II-I repeat domain-containing protein 1 isoform X10

      UniProtKB/TrEMBL
      Q59FS0
    10. XM_047421059.1XP_047277015.1  general transcription factor II-I repeat domain-containing protein 1 isoform X3

    11. XM_047421062.1XP_047277018.1  general transcription factor II-I repeat domain-containing protein 1 isoform X7

      UniProtKB/Swiss-Prot
      O95444, Q6DSU6, Q75MX7, Q86UM3, Q8WVC4, Q9UHK8, Q9UHL9, Q9UI91
    12. XM_017012804.2XP_016868293.1  general transcription factor II-I repeat domain-containing protein 1 isoform X9

      UniProtKB/TrEMBL
      Q59FS0
      Conserved Domains (1) summary
      pfam02946
      Location:565637
      GTF2I; GTF2I-like repeat
    13. XM_047421060.1XP_047277016.1  general transcription factor II-I repeat domain-containing protein 1 isoform X4

    14. XM_047421066.1XP_047277022.1  general transcription factor II-I repeat domain-containing protein 1 isoform X10

    15. XM_047421063.1XP_047277019.1  general transcription factor II-I repeat domain-containing protein 1 isoform X7

      UniProtKB/Swiss-Prot
      O95444, Q6DSU6, Q75MX7, Q86UM3, Q8WVC4, Q9UHK8, Q9UHL9, Q9UI91
    16. XM_047421065.1XP_047277021.1  general transcription factor II-I repeat domain-containing protein 1 isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      75656184..75805371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359379.1XP_054215354.1  general transcription factor II-I repeat domain-containing protein 1 isoform X1

    2. XM_054359385.1XP_054215360.1  general transcription factor II-I repeat domain-containing protein 1 isoform X5

    3. XM_054359380.1XP_054215355.1  general transcription factor II-I repeat domain-containing protein 1 isoform X2

    4. XM_054359392.1XP_054215367.1  general transcription factor II-I repeat domain-containing protein 1 isoform X10

    5. XM_054359383.1XP_054215358.1  general transcription factor II-I repeat domain-containing protein 1 isoform X4

    6. XM_054359386.1XP_054215361.1  general transcription factor II-I repeat domain-containing protein 1 isoform X6

      UniProtKB/TrEMBL
      E9PFE2
    7. XM_054359381.1XP_054215356.1  general transcription factor II-I repeat domain-containing protein 1 isoform X3

    8. XM_054359389.1XP_054215364.1  general transcription factor II-I repeat domain-containing protein 1 isoform X8

    9. XM_054359394.1XP_054215369.1  general transcription factor II-I repeat domain-containing protein 1 isoform X11

    10. XM_054359390.1XP_054215365.1  general transcription factor II-I repeat domain-containing protein 1 isoform X9

    11. XM_054359387.1XP_054215362.1  general transcription factor II-I repeat domain-containing protein 1 isoform X7

      UniProtKB/Swiss-Prot
      O95444, Q6DSU6, Q75MX7, Q86UM3, Q8WVC4, Q9UHK8, Q9UHL9, Q9UI91
    12. XM_054359393.1XP_054215368.1  general transcription factor II-I repeat domain-containing protein 1 isoform X10

    13. XM_054359384.1XP_054215359.1  general transcription factor II-I repeat domain-containing protein 1 isoform X4

    14. XM_054359382.1XP_054215357.1  general transcription factor II-I repeat domain-containing protein 1 isoform X3

    15. XM_054359388.1XP_054215363.1  general transcription factor II-I repeat domain-containing protein 1 isoform X7

      UniProtKB/Swiss-Prot
      O95444, Q6DSU6, Q75MX7, Q86UM3, Q8WVC4, Q9UHK8, Q9UHL9, Q9UI91
    16. XM_054359391.1XP_054215366.1  general transcription factor II-I repeat domain-containing protein 1 isoform X9