2. Gene
  3. GTF2IRD1 - GTF2I repeat domain containing 1 Gene

GTF2IRD1 - GTF2I repeat domain containing 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1

Gene ID: 9569 | Gene type: protein coding

About GTF2IRD1

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:74,453,906-74,602,605 (from NCBI)

This gene has 7 transcripts (splice variants), 196 orthologues, 18 paralogues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 6.1), esophagus (RPKM 4.7) and 23 other tissues.

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]

GTF2IRD1 Products(4)

mRNA Protein Name
NM_001199207.2 NP_001186136.1 general transcription factor II-I repeat domain-containing protein 1 isoform 3
NM_001410888.1 NP_001397817.1 general transcription factor II-I repeat domain-containing protein 1 isoform 4
NM_005685.4 NP_005676.3 general transcription factor II-I repeat domain-containing protein 1 isoform 2
NM_016328.3 NP_057412.1 general transcription factor II-I repeat domain-containing protein 1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
11438732 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
9774679 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
26275350 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
11438732 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GTF2IRD1 Protein Structure

GTF2I

GTF2I: GTF2I-like repeat (128 - 203)

GTF2I

GTF2I: GTF2I-like repeat (351 - 425)

GTF2I

GTF2I: GTF2I-like repeat (565 - 640)

GTF2I

GTF2I: GTF2I-like repeat (705 - 780)

GTF2I

GTF2I: GTF2I-like repeat (802 - 876)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 959 a.a.
Protein Preferred Names Protein Names

general transcription factor II-I repeat domain-containing protein 1

USE B1-binding protein

Related Diseases

Diseases Alias
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws
Childhood-Onset Schizophrenia

Childhood Schizophrenia

Schizophrenia, Childhood
Retinoblastoma

RB

Trilateral Retinoblastoma

RB1

Retinoblastoma, Trilateral

Neuroblastoma Of Retina

Rb - Retinoblastoma

Eye Cancer, Retinoblastoma

Retinal Cancer

Retinal Tumor

Glioma, Retinal

Non-Hereditary Retinoblastoma

Childhood Cancer Retinoblastoma

Malignant Neoplasm Of Retina

Retinal Neoplasms
Williams-Beuren Region Duplication Syndrome

7q11.23 Duplication Syndrome

7q11.23 Microduplication Syndrome

Chromosome 7q11.23 Duplication Syndrome

Wbs Duplication Syndrome

Somerville-Van Der Aa Syndrome

Dup(7)(Q11.23)

Trisomy 7q11.23

William-Beuren Region Duplication Syndrome

Chromosome 7q11.23 Duplication
Supravalvular Aortic Stenosis

SVAS

Supravalvar Aortic Stenosis

Supravalvar Aortic Stenosis, Eisenberg Type

Aortic Supravalvular Stenosis

Aortic Stenosis, Supravalvular

Supra-Valvular Aortic Stenosis

Stenosis, Aortic Supravalvular

Stenosis, Supravalvular Aortic

Supravalvular Stenosis, Aortic

Aortic Stenosis Supravalvular
Intellectual Developmental Disorder, X-Linked 108

MRX108

X-Linked Intellectual Developmental Disorder 108

Mental Retardation, X-Linked 108

Mental Retardation, X-Linked, Type 108
Chromosomal Deletion Syndrome
Phobia, Specific

Specific Phobia

Simple Phobia

Phobia, Simple

Isolated Phobia
Subacute Bacterial Endocarditis

Endocarditis Lenta

Sbe - Subacute Bacterial Endocarditis

Subacute Endocarditis, Lenta

Endocarditis, Subacute Bacterial
Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05904 GTF2IRD1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus GTF2IRD1 VGNC VGNC:29700
Felis catus GTF2IRD1 VGNC VGNC:67502
Canis familiaris GTF2IRD1 VGNC VGNC:41550
Mus musculus GTF2IRD1 MGD MGI:1861942
Rattus norvegicus GTF2IRD1 RGD RGD:620856
Macaca mulatta GTF2IRD1 VGNC VGNC:73314