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

Gene ID: 9569, updated on 10-Dec-2019

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

Genomic context

See GTF2IRD1 in Genome Data Viewer
Location:
7q11.23
Exon count:
28
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (74453906..74603070)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73868120..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 uncharacterized LOC101926943 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

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

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
transition between slow and fast fiber IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
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)

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, ENST00000424337.6
    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.

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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