Homo sapiens Gene: GTF2IRD1
Summary
InnateDB Gene IDBG-21251.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GTF2IRD1
Gene Name GTF2I repeat domain containing 1
Synonyms BEN; CREAM1; GTF3; hMusTRD1alpha1; MUSTRD1; RBAP2; WBS; WBSCR11; WBSCR12;
Species Homo sapiens
Ensembl Gene ENSG00000006704
Encoded Proteins
GTF2I repeat domain containing 1
GTF2I repeat domain containing 1
GTF2I repeat domain containing 1
GTF2I repeat domain containing 1
GTF2I repeat domain containing 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:74453790-74602604
Strand Forward strand
Band q11.23
Transcripts
ENST00000265755 ENSP00000265755
ENST00000455841 ENSP00000397566
ENST00000424337 ENSP00000408477
ENST00000476977 ENSP00000418383
ENST00000489094
ENST00000470715 ENSP00000417909
ENST00000486086
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
Biological Process
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0014886 transition between slow and fast fiber
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Basal transcription factors pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9UHL9
TrEMBL E9PFE2 Q59FS0 Q75MX6
UniProt Splice Variant
Entrez Gene 9569
UniGene Hs.647056
RefSeq NM_001199207 NM_005685 NM_016328 XM_005250720 XM_005250721 XM_006716182 XM_006716183 XM_006716184
HUGO HGNC:4661
OMIM 604318
CCDS CCDS47613 CCDS5571 CCDS56492
HPRD
IMGT
EMBL AB209389 AC004851 AC005015 AC005231 AF089107 AF104923 AF118270 AF151354 AF156489 AY648295 BC018136
GenPept AAD14687 AAD27668 AAF17358 AAF19786 AAF21796 AAH18136 AAP21877 AAS00361 AAS00362 AAT68469 BAD92626
RNA Seq Atlas 9569