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

    Gene ID: 2969, updated on 22-Apr-2017
    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; Vega:OTTHUMG00000156237
    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]
    Orthologs
    Location:
    7q11.23
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (74657665..74760692)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74071991..74175022)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GTF2I repeat domain containing 1 Neighboring gene RNA, 5S ribosomal pseudogene 233 Neighboring gene uncharacterized LOC107986810 Neighboring gene uncharacterized LOC101926943 Neighboring gene prohibitin pseudogene 15 Neighboring gene neutrophil cytosolic factor 1 Neighboring gene GTF2I repeat domain containing 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    NHGRI GWAS Catalog

    Description
    A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
    NHGRI GWA Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog

    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

    • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      B Cell Receptor Signaling Pathway, organism-specific biosystemThe functional B-cell receptor is a multi-protein complex consisting of an antigen binding subunit and a signaling subunit. The antigen binding subunit is the membrane bound immunoglobulin and the si...
    • Basal transcription factors, organism-specific biosystem (from KEGG)
      Basal transcription factors, organism-specific biosystem
      Basal transcription factors
    • Basal transcription factors, conserved biosystem (from KEGG)
      Basal transcription factors, conserved biosystem
      Basal transcription factors
    • Herpes simplex infection, organism-specific biosystem (from KEGG)
      Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
    • Herpes simplex infection, conserved biosystem (from KEGG)
      Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
    • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
      cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
    • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
      cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ36344, FLJ38776, FLJ56355

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitogen-activated protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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
      4976..108003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001163636.2NP_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, DC346283
      UniProtKB/Swiss-Prot
      P78347
      UniProtKB/TrEMBL
      A8K9W7, Q499G6
      Conserved Domains (1) summary
      pfam02946
      Location:112184
      GTF2I; GTF2I-like repeat
    2. NM_001280800.1NP_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, AK292832, BC004472, DC346283
      Consensus CDS
      CCDS64680.1
      UniProtKB/Swiss-Prot
      P78347
      UniProtKB/TrEMBL
      A8K9W7
      Related
      ENSP00000404240.1, OTTHUMP00000209512, ENST00000443166.5, OTTHUMT00000314399
      Conserved Domains (1) summary
      pfam02946
      Location:112184
      GTF2I; GTF2I-like repeat
    3. NM_001518.4NP_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, DC346283
      Consensus CDS
      CCDS47614.1
      UniProtKB/Swiss-Prot
      P78347
      UniProtKB/TrEMBL
      A8K9W7, Q499G6, X5D2J9
      Related
      ENSP00000477837.1, OTTHUMP00000276824, ENST00000620879.4, OTTHUMT00000343532
      Conserved Domains (1) summary
      pfam02946
      Location:112184
      GTF2I; GTF2I-like repeat
    4. NM_032999.3NP_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, DC346283
      Consensus CDS
      CCDS5573.1
      UniProtKB/Swiss-Prot
      P78347
      UniProtKB/TrEMBL
      A8K9W7, Q499G6, X5DR09
      Related
      ENSP00000460070.1, OTTHUMP00000276821, ENST00000573035.5, OTTHUMT00000252708
      Conserved Domains (1) summary
      pfam02946
      Location:112184
      GTF2I; GTF2I-like repeat
    5. NM_033000.3NP_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, DC346283
      Consensus CDS
      CCDS5574.1
      UniProtKB/Swiss-Prot
      P78347
      UniProtKB/TrEMBL
      A8K9W7, Q499G6, X5DNP5
      Related
      ENSP00000484526.1, OTTHUMP00000276822, ENST00000614986.4, OTTHUMT00000252709
      Conserved Domains (1) summary
      pfam02946
      Location:112184
      GTF2I; GTF2I-like repeat
    6. NM_033001.3NP_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, DC346283
      Consensus CDS
      CCDS5575.1
      UniProtKB/Swiss-Prot
      P78347
      UniProtKB/TrEMBL
      A8K9W7, Q499G6, X5D939
      Related
      ENSP00000482476.1, OTTHUMP00000276823, ENST00000621734.4, OTTHUMT00000252710
      Conserved Domains (1) summary
      pfam02946
      Location:112184
      GTF2I; GTF2I-like repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      74657665..74760692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      74217081..74320108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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