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    GTF2I general transcription factor IIi [ Homo sapiens (human) ]

    Gene ID: 2969, updated on 4-Jul-2021

    Summary

    Official Symbol
    GTF2Iprovided by HGNC
    Official Full Name
    general transcription factor IIiprovided by HGNC
    Primary source
    HGNC:HGNC:4659
    See related
    Ensembl:ENSG00000263001 MIM:601679
    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
    WBS; DIWS; SPIN; IB291; BAP135; BTKAP1; TFII-I; WBSCR6; GTFII-I
    Summary
    This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in brain (RPKM 105.1), thyroid (RPKM 95.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GTF2I in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (74657718..74760692)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74072044..74175022)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GTF2I repeat domain containing 1 Neighboring gene Williams-Beuren syndrome chromosome region 23 Neighboring gene microRNA 10525 Neighboring gene GTF2I antisense RNA 1 Neighboring gene Williams-Beuren syndrome medial block B recombination region Neighboring gene prohibitin pseudogene 15 Neighboring gene GTF2I repeat domain containing 2 Neighboring gene neutrophil cytosolic factor 1

    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
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-08-08)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-08-08)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Inhibition of SREBP2 activity reduces TFII-I induction in response to HIV-1 infection or activation of human primary CD4(+) T cells and TFII-I contributes to Tat-dependent viral gene expression PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ36344, FLJ38776, FLJ56355

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    general transcription factor II-I
    Names
    BTK-associated protein, 135kD
    Bruton tyrosine kinase-associated protein 135
    SRF-Phox1-interacting protein
    Williams-Beuren syndrome chromosome region 6

    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_008179.2 RefSeqGene

      Range
      5029..108003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001163636.3NP_001157108.1  general transcription factor II-I isoform 5

      See identical proteins and their annotated locations for NP_001157108.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site and lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AA641906, AF035737, AK292832, BC099907, CB118501
      UniProtKB/Swiss-Prot
      P78347
      UniProtKB/TrEMBL
      A8K9W7, Q499G6
      Conserved Domains (1) summary
      pfam02946
      Location:112186
      GTF2I; GTF2I-like repeat
    2. NM_001280800.2NP_001267729.1  general transcription factor II-I isoform 6

      See identical proteins and their annotated locations for NP_001267729.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks multiple coding exons and its transcription extends past a splice site used in variant 1, resulting in a distinct 3' coding region and 3' UTR. The encoded isoform (6) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF015553, BC004472
      Consensus CDS
      CCDS64680.1
      UniProtKB/Swiss-Prot
      P78347
      UniProtKB/TrEMBL
      A8K9W7
      Related
      ENSP00000404240.1, ENST00000443166.5
      Conserved Domains (1) summary
      pfam02946
      Location:112184
      GTF2I; GTF2I-like repeat
    3. NM_001518.5NP_001509.3  general transcription factor II-I isoform 4

      See identical proteins and their annotated locations for NP_001509.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons, compared to variant 1. The encoded isoform (4, also known as delta) is shorter than isoform 1.
      Source sequence(s)
      AA641906, AF035737, AK292832, BC070484, BC099907, CB118501
      Consensus CDS
      CCDS47614.1
      UniProtKB/Swiss-Prot
      P78347
      UniProtKB/TrEMBL
      A8K9W7, Q499G6, X5D2J9
      Related
      ENSP00000477837.1, ENST00000620879.4
      Conserved Domains (1) summary
      pfam02946
      Location:112186
      GTF2I; GTF2I-like repeat
    4. NM_032999.4NP_127492.1  general transcription factor II-I isoform 1

      See identical proteins and their annotated locations for NP_127492.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as gamma).
      Source sequence(s)
      AA641906, AF015553, AF035737, AK292832, BC099907, CB118501
      Consensus CDS
      CCDS5573.1
      UniProtKB/Swiss-Prot
      P78347
      UniProtKB/TrEMBL
      A8K9W7, Q499G6, X5DR09
      Related
      ENSP00000460070.1, ENST00000573035.6
      Conserved Domains (1) summary
      pfam02946
      Location:112186
      GTF2I; GTF2I-like repeat
    5. NM_033000.4NP_127493.1  general transcription factor II-I isoform 2

      See identical proteins and their annotated locations for NP_127493.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2, also known as beta) is shorter than isoform 1.
      Source sequence(s)
      AA641906, AF015553, AF038967, AK292832, BC099907, CB118501
      Consensus CDS
      CCDS5574.1
      UniProtKB/Swiss-Prot
      P78347
      UniProtKB/TrEMBL
      A8K9W7, Q499G6, X5DNP5
      Related
      ENSP00000484526.1, ENST00000614986.4
      Conserved Domains (1) summary
      pfam02946
      Location:112186
      GTF2I; GTF2I-like repeat
    6. NM_033001.4NP_127494.1  general transcription factor II-I isoform 3

      See identical proteins and their annotated locations for NP_127494.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (3, also known as alpha) is shorter than isoform 1.
      Source sequence(s)
      AA641906, AF015553, AF038968, AK292832, BC099907, CB118501
      Consensus CDS
      CCDS5575.1
      UniProtKB/Swiss-Prot
      P78347
      UniProtKB/TrEMBL
      A8K9W7, Q499G6, X5D939
      Related
      ENSP00000482476.1, ENST00000621734.4
      Conserved Domains (1) summary
      pfam02946
      Location:112186
      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
      74657718..74760692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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