GTF2IRD1 - GTF2I repeat domain containing 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9569

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 References 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 References 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

GTF2IRD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GTF2IRD1 Q9UHL9 INTS12 Homo sapiens Q96CB8
Anti Tag CoIP
26275350
Cross
GTF2IRD1 Q9UHL9 Setd6 Mus musculus Q9CWY3
Y2H
26275350
Cross
GTF2IRD1 Q9UHL9 Setd6 Mus musculus Q9CWY3
Anti Tag CoIP
26275350
Intra
GTF2IRD1 Q9UHL9 MBD3L1 Homo sapiens Q8WWY6
Anti Tag CoIP
26275350
Cross
GTF2IRD1 Q9UHL9 Homez Mus musculus Q80W88
Y2H
26275350
Cross
GTF2IRD1 Q9UHL9 Homez Mus musculus Q80W88
Anti Tag CoIP
26275350
Cross
GTF2IRD1 Q9UHL9 Nap1l2 Mus musculus P51860
Y2H
26275350
Cross
GTF2IRD1 Q9UHL9 Nap1l2 Mus musculus P51860
Anti Tag CoIP
26275350
Cross
GTF2IRD1 Q9UHL9 Zmym3 Mus musculus Q9JLM4
Y2H
26275350
Cross
GTF2IRD1 Q9UHL9 Zmym3 Mus musculus Q9JLM4
Anti Tag CoIP
26275350
Intra
GTF2IRD1 Q9UHL9 PKP1 Homo sapiens Q13835
Anti Tag CoIP
26275350
Intra
GTF2IRD1 Q9UHL9 DCAF6 Homo sapiens Q58WW2
Anti Tag CoIP
26275350
Intra
GTF2IRD1 Q9UHL9 ZMYM2 Homo sapiens Q9UBW7
Confocal
26275350
Intra
GTF2IRD1 Q9UHL9 ZMYM2 Homo sapiens Q9UBW7
Anti Tag CoIP
26275350
Intra
GTF2IRD1 Q9UHL9 ZMYM2 Homo sapiens Q9UBW7
PLA
26275350
Intra
GTF2IRD1 Q9UHL9 GORASP2 Homo sapiens Q9H8Y8
Y2H Array
32296183
Intra
GTF2IRD1 Q9UHL9 GORASP2 Homo sapiens Q9H8Y8
Y2H Prey Pooling
32296183
Intra
GTF2IRD1 Q9UHL9 MRFAP1L1 Homo sapiens Q96HT8
Y2H Prey Pooling
32296183
Intra
GTF2IRD1 Q9UHL9 MRFAP1L1 Homo sapiens Q96HT8
Y2H Array
32296183
Intra
GTF2IRD1 Q9UHL9 ATF7IP Homo sapiens Q6VMQ6
Anti Tag CoIP
26275350
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS05904 GTF2IRD1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27467 Gtf2i Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others GTF2IRD1 NCBI