GTF2IRD1

General transcription factor II-I repeat domain-containing protein 1 is a protein that in humans is encoded by the GTF2IRD1 gene.^[5][6][7]

PDBOrtholog search: PDBe RCSB

AliasesGTF2IRD1, BEN, CREAM1, GTF3, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12, hMusTRD1alpha1, GTF2I repeat domain containing 1

External IDsOMIM: 604318; MGI: 1861942; HomoloGene: 4158; GeneCards: GTF2IRD1; OMA:GTF2IRD1 - orthologs

Chr.Chromosome 7 (human)^[1]

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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)[1] Band 7q11.23 Start 74,453,790 bp[1] End 74,602,605 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 G2|5 74.55 cM Start 134,386,510 bp[2] End 134,485,570 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 9569 57080 Ensembl ENSG00000006704 ENSMUSG00000023079 UniProt Q9UHL9 Q9JI57 RefSeq (mRNA) 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 RefSeq (protein) 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 Location (UCSC) Chr 7: 74.45 – 74.6 Mb Chr 5: 134.39 – 134.49 Mb PubMed search [3] [4]
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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.^[7]