GTF2IRD1 - GTF2I repeat domain containing 1 Gene

中文名称：含 GTF2I 重复结构域 1

种属: Homo sapiens

同用名: BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1

基因 ID: 9569 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质包含五个类似 GTF2I 的重复序列，每个重复序列都具有一个潜在的螺旋-环-螺旋 (HLH) 基序。它可能具有与其他 HLH 蛋白相互作用的能力，并在视网膜母细胞瘤蛋白的控制下充当转录因子或正转录调节因子。该基因在颅面和认知发育中发挥作用，突变与 Williams-Beuren 综合征有关，这是一种由 7q11.23 多个基因缺失引起的多系统发育障碍。可变剪接导致多个转录本变体。[RefSeq 提供，2010 年 11 月]

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 基因产物(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

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	11438732	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	9774679	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	26275350	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	11438732	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

GTF2IRD1 蛋白结构

GTF2I

0
200
400
600
800
959 a.a.

蛋白主名

其他名称

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

USE B1-binding protein

GTF2IRD1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
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

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05904	GTF2IRD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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