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Details on Person UniProt:Q9UHL9 GTF2IRD1

Class:Id	ReferenceGeneProduct:55204
_chainChangeLog	chain:1-959 added on Fri February 6 2015
_displayName	UniProt:Q9UHL9 GTF2IRD1
_timestamp	2024-11-03 19:56:34
chain	chain:1-959
checksum	7DA3097879701540
comment	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).SUBUNIT Interacts with the retinoblastoma protein (RB1) via its C-terminus.INTERACTION Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.DEVELOPMENTAL STAGE Highly expressed in developing and regenerating muscles, at the time of myofiber diversification.DOMAIN The N-terminal half may have an activating activity.DISEASE 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.SIMILARITY Belongs to the TFII-I family.
description	recommendedName: General transcription factor II-I repeat domain-containing protein 1 shortName: GTF2I repeat domain-containing protein 1 alternativeName: General transcription factor III alternativeName: MusTRD1/BEN alternativeName: Muscle TFII-I repeat domain-containing protein 1 alternativeName: Slow-muscle-fiber enhancer-binding protein alternativeName: USE B1-binding protein alternativeName: Williams-Beuren syndrome chromosomal region 11 protein alternativeName: Williams-Beuren syndrome chromosomal region 12 protein
geneName	GTF2IRD1 CREAM1 GTF3 MUSTRD1 RBAP2 WBSCR11 WBSCR12
identifier	Q9UHL9
isSequenceChanged	FALSE
keyword	3D-structure Alternative splicing Developmental protein DNA-binding Isopeptide bond Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat Transcription Transcription regulation Ubl conjugation Williams-Beuren syndrome
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
name	GTF2IRD1
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8962559] ENSEMBL:ENSG00000006704 GTF2IRD1 [Homo sapiens]
secondaryIdentifier	GT2D1_HUMAN O95444 Q6DSU6 Q75MX7 Q86UM3 Q8WVC4 Q9UHK8 Q9UI91
sequenceLength	959
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:147660] UniProt:Q9UHL9-2 GTF2IRD1 [Homo sapiens] [ReferenceIsoform:415376] UniProt:Q9UHL9-1 GTF2IRD1 [Homo sapiens] [ReferenceIsoform:8971020] UniProt:Q9UHL9-3 GTF2IRD1 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:3246091] GTF2IRD1 [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:3246137] monoSUMO1-K495-GTF2IRD1 [nucleoplasm] [Homo sapiens]
(referenceSequence)	[GroupModifiedResidue:3246117] sumoylated lysine (monoSUMO1 [nucleoplasm]) at 495
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No pathways have been reviewed or authored by UniProt:Q9UHL9 GTF2IRD1 (55204)