GTF2IRD1

GTF2IRD1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2D99, 2DN5, 2DZQ, 2DZR
Identifiers
Aliases	GTF2IRD1, BEN, CREAM1, GTF3, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12, hMusTRD1alpha1, GTF2I repeat domain containing 1
External IDs	OMIM: 604318; MGI: 1861942; HomoloGene: 4158; GeneCards: GTF2IRD1; OMA:GTF2IRD1 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	74,602,605 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	134,485,570 bp
RNA expression pattern
	Top expressed in
	muscle of thigh; ; tibialis anterior muscle; ; anterior pituitary; ; gastrocnemius muscle; ; Skeletal muscle tissue of biceps brachii; ; mucosa of pharynx; ; glutes; ; body of tongue; ; stromal cell of endometrium; ; deltoid muscle;
	Top expressed in
	saccule; ; otic vesicle; ; neural layer of retina; ; zygote; ; mandibular prominence; ; otic placode; ; genital tubercle; ; molar; ; ventricular zone; ; epiblast;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA-binding transcription factor activity; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA binding; protein binding;
Cellular component	nucleus; nucleoplasm; cytoplasm; cytosol;
Biological process	regulation of transcription, DNA-templated; transcription, DNA-templated; transition between slow and fast fiber; regulation of transcription by RNA polymerase II; multicellular organism development; transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	9569
	57080
	ENSG00000006704
	ENSMUSG00000023079
	Q9UHL9
	Q9JI57
	NM_001199207; NM_005685; NM_016328
NM_001081462; NM_001081463; NM_001081464; NM_001081465; NM_001081466;
	NM_001081467; NM_001081468; NM_001081469; NM_001081470; NM_001244936; NM_020331; NM_001347488
	NP_001186136; NP_005676; NP_057412
NP_001074931; NP_001074932; NP_001074933; NP_001074934; NP_001074935;
	NP_001074936; NP_001074937; NP_001074938; NP_001074939; NP_001231865; NP_001334417; NP_065064
	Wikidata
View/Edit Human	View/Edit Mouse

General transcription factor II-I repeat domain-containing protein 1 is a protein that in humans is encoded by the GTF2IRD1 gene.

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 is deleted in Williams syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants.