Homo sapiens Protein: GTF2IRD1
Summary
InnateDB Protein IDBP-378829.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GTF2IRD1
Protein Name GTF2I repeat domain containing 1
Synonyms BEN; CREAM1; GTF3; hMusTRD1alpha1; MUSTRD1; RBAP2; WBS; WBSCR11; WBSCR12;
Species Homo sapiens
Ensembl Protein ENSP00000397566
InnateDB Gene IDBG-21251 (GTF2IRD1)
Protein Structure
UniProt Annotation
Function May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity). {ECO:0000250}.
Subcellular Localization Nucleus.
Disease Associations Note=GTF2IRD1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
Tissue Specificity Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR004212 GTF2I-like repeat
IPR016659 Transcription factor II-I
PFAM PF02946
PRINTS
PIRSF PIRSF016441
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UHL9
PhosphoSite PhosphoSite-Q9UHL9
TrEMBL
UniProt Splice Variant
Entrez Gene 9569
UniGene Hs.647056
RefSeq NP_001186136
HUGO HGNC:4661
OMIM 604318
CCDS CCDS56492
HPRD 08379
IMGT
EMBL AC004851 AC005015 AC005231 AF089107 AF104923 AF118270 AF151354 AF156489 AY648295 BC018136
GenPept AAD14687 AAD27668 AAF17358 AAF19786 AAF21796 AAH18136 AAP21877 AAS00362 AAT68469