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  3. GTF2I - general transcription factor IIi Gene

GTF2I - general transcription factor IIi Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：一般转录因子 III

种属: Homo sapiens

同用名: WBS; DIWS; SPIN; IB291; BAP135; BTKAP1; TFII-I; WBSCR6; GTFII-I

基因 ID: 2969 | 基因类型: protein coding

关于 GTF2I

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:74,657,718-74,760,692 (from NCBI)

This gene has 24 transcripts (splice variants), 130 orthologues, 18 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 105.1), thyroid (RPKM 95.5) and 25 other tissues.

功能概要

该基因编码含有六个特征重复基序的磷蛋白。编码的蛋白质与启动子中的起始元件 (Inr) 和 E-box 元件结合，并作为转录调节因子发挥作用。该基因座连同其他几个邻近基因在 Williams-Beuren 综合征中被删除。该基因在 7 号染色体上有许多密切相关的基因和假基因。该基因在 9、13 和 21 号染色体上也有假基因。已经观察到编码多种亚型的选择性剪接转录变体。[RefSeq 提供，2013 年 7 月]

This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several Other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]

GTF2I 基因产物(6)

mRNA Protein Name
NM_001163636.3 NP_001157108.1 general transcription factor II-I isoform 5
NM_001280800.2 NP_001267729.1 general transcription factor II-I isoform 6
NM_001518.5 NP_001509.3 general transcription factor II-I isoform 4
NM_032999.4 NP_127492.1 general transcription factor II-I isoform 1
NM_033000.4 NP_127493.1 general transcription factor II-I isoform 2
NM_033001.4 NP_127494.1 general transcription factor II-I isoform 3
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
9334314 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
9334314 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9012831 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within negative regulation of angiogenesis IDA
IDA: 通过直接分析推断
19242469 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
9334314 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
19242469 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

GTF2I 蛋白结构

GTF2I

GTF2I: GTF2I-like repeat (112 - 187)

GTF2I

GTF2I: GTF2I-like repeat (361 - 435)

GTF2I

GTF2I: GTF2I-like repeat (466 - 541)

GTF2I

GTF2I: GTF2I-like repeat (571 - 646)

GTF2I

GTF2I: GTF2I-like repeat (733 - 808)

GTF2I

GTF2I: GTF2I-like repeat (868 - 943)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 998 a.a.
蛋白主名 其他名称

general transcription factor II-I

BTK-associated protein, 135kD

GTF2I 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
种属内
GTF2I P78347 BRCA1 Homo sapiens P38398
Anti Bait CoIP
21407215
种属内
GTF2I P78347 BRCA1 Homo sapiens P38398
Confocal
21407215
种属内
GTF2I P78347 BTK Homo sapiens Q06187
Anti Bait CoIP
9012831
种属间: 跨种属相互作用 种属内: 同种属相互作用

GTF2I 抗体

目录号 产品名 应用 反应物种
HY-P83523 General Transcription Factor II I Antibody (YA3268) WB, IHC-F, IHC-P, ICC/IF Human

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
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
Thymoma

Primary Thymic Epithelial Neoplasm

Primary Thymic Epithelial Tumor

Thymus 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
Dyslexia
Immune System Organ Benign Neoplasm
Thymus Lipoma

Thymolipoma
Mediastinum Sarcoma

Sarcoma Of Mediastinum
Chromosomal Deletion Syndrome
Thymic Carcinoma

Malignant Thymoma

Thymoma, Malignant
Intellectual Developmental Disorder, X-Linked 108

MRX108

X-Linked Intellectual Developmental Disorder 108

Mental Retardation, X-Linked 108

Mental Retardation, X-Linked, Type 108
Thymus Gland Disease

Disease Of Thymus Gland
Thymus Cancer

Thymic Neoplasm

Thymic Tumor

Thymus Neoplasm

Thymus Neoplasms

Malignant Neoplasm Of Thymus

Neoplasm Of Thymus

Thymic Neoplasms

Thymoma, Familial

Thymic Carcinoma

Thymoma, Type C

Cancer Of Thymus

Malignant Tumour Of Thymus

Primary Malignant Neoplasm Of Thymus

Thymic Glandular Cancer

Thymus Gland Cancer
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05903 GTF2I Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20950 Gtf2i Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27467 Gtf2i Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus GTF2I MGD MGI:1202722
Rattus norvegicus GTF2I RGD RGD:727961
Bos taurus GTF2I VGNC VGNC:29699
Macaca mulatta GTF2I VGNC VGNC:73313
Felis catus GTF2I VGNC VGNC:67501
Canis familiaris GTF2I VGNC VGNC:54032
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