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

Gene ID: 2969, updated on 11-Feb-2018
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]
Expression
Ubiquitous expression in brain (RPKM 105.1), thyroid (RPKM 95.5) and 25 other tissues See more
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
 
DNA binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
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 
Process Evidence Code Pubs
negative regulation of angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
transition between slow and fast fiber IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell projection IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
membrane HDA 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

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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