1. Gene
  2. GTF2H1 - general transcription factor IIH subunit 1 Gene

GTF2H1 - general transcription factor IIH subunit 1 Gene

中文名称:一般转录因子 IIH 亚基 1

种属: Homo sapiens

同用名: P62; BTF2; TFB1; TFIIH

基因 ID: 2965 | 基因类型: protein coding

关于 GTF2H1

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:18,322,567-18,367,045 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele and 219 orthologues. Ubiquitous expression in testis (RPKM 18.1), thyroid (RPKM 12.6) and 25 other tissues.

功能概要

启用甲状腺激素受体结合活性。参与转录、DNA 模板化和 RNA 聚合酶 II 转录的正调控。位于核质中。转录因子 TFIIH 核心复合体和转录因子 TFIIH 全息复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables Thyroid Hormone Receptor binding activity. Involved in positive regulation of transcription, DNA-templated and transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription factor TFIIH core complex and transcription factor TFIIH holo complex. [provided by Alliance of Genome Resources, Apr 2022]

GTF2H1 基因产物(2)

mRNA Protein Name
NM_001142307.2 NP_001135779.1 general transcription factor IIH subunit 1
NM_005316.4 NP_005307.1 general transcription factor IIH subunit 1
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 nuclear thyroid hormone receptor binding IPI
IPI: 通过物理相互作用推断
15625236 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8652557 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
15625236 GOA
involved in transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
9852112 GOA
involved in transcription initiation at RNA polymerase II promoter IDA
IDA: 通过直接分析推断
8692841 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of transcription factor TFIIH core complex IDA
IDA: 通过直接分析推断
8692841 GOA
part of transcription factor TFIIH holo complex IDA
IDA: 通过直接分析推断
9852112 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

GTF2H1 蛋白结构

PH_TFIIH

PH_TFIIH: TFIIH p62 subunit, N-terminal domain (10 - 81)

BSD

BSD: BSD domain (104 - 148)

BSD

BSD: BSD domain (179 - 235)

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  • 548 a.a.
蛋白主名 其他名称

general transcription factor IIH subunit 1

BTF2 p62

GTF2H1 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
GTF2H1 P32780 AGTRAP Homo sapiens Q6RW13-2
Y2H Prey Pooling
32296183
种属内
GTF2H1 P32780 AGTRAP Homo sapiens Q6RW13-2
Y2H Array
32296183
种属内
GTF2H1 P32780 AGTRAP Homo sapiens Q6RW13-2
Validated Y2H
32296183
种属内
GTF2H1 P32780 GTF2H2 Homo sapiens Q13888
Anti Tag CoIP
33961781
种属内
GTF2H1 P32780 XPC Homo sapiens Q01831-1
NMR
26278177
种属内
GTF2H1 P32780 XPC Homo sapiens Q01831-1
ITC
26278177
种属内
GTF2H1 P32780 TP53 Homo sapiens P04637
Pull Down
18354501
种属内
GTF2H1 P32780 GTF2E1 Homo sapiens P29083
Y2H Array
32296183
种属内
GTF2H1 P32780 GTF2E1 Homo sapiens P29083
NMR
18354501
种属内
GTF2H1 P32780 GTF2E1 Homo sapiens P29083
Pull Down
18354501
种属内
GTF2H1 P32780 GTF2E1 Homo sapiens P29083
Y2H Prey Pooling
32296183
种属内
GTF2H1 P32780 FHL2 Homo sapiens Q14192
Validated Y2H
32296183
种属内
GTF2H1 P32780 EAF1 Homo sapiens Q96JC9
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

GTF2H1 抗体

目录号 产品名 应用 反应物种
HY-P81322 GTF2H1 Antibody (YA1067) WB, ICC/IF, IP Human

关联疾病

疾病名称 别名
Rift Valley Fever

Rfv - [Rift Valley Fever]

Phlebotomus Fever

Pappataci Fever

Sandfly Fever

Sandfly-Borne Phleboviral Disease

Sandfly-Borne Arboviral Fever

Sandfly-Borne Bunyavirus Fever

Three Day Fever

Chitral Fever

Italy Summer Grippe

Italy Summer Grippe Influenza

Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Ibids

Pibids

Trichothiodystrophy Syndromes

Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs

Hermansky-Pudlak Syndrome 5

HPS5

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 5

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Cerebrooculofacioskeletal Syndrome 1

Cofs Syndrome

COFS1

Pena-Shokeir Syndrome Type 2

Cofs

Pena-Shokeir Syndrome, Type Ii

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome 1

Pena Shokeir Syndrome Type 2

Xeroderma Pigmentosum, Complementation Group G

Xeroderma Pigmentosum, Group G

Xeroderma Pigmentosum Vii

Xp7

XPG

Xeroderma Pigmentosum Group G

Xp Group G

Xp, Group G

Xpgc

Xeroderma Pigmentosum, Group G/Cockayne Syndrome

Xeroderma Pigmentosum, Type 7

Xeroderma Pigmentosum Complementation Group G

XP-G

Xp-G/Cs

Xeroderma Pigmentosum Group G/Cockayne Syndrome

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

Xeroderma Pigmentosum, Complementation Group C

Xeroderma Pigmentosum, Group C

XPC

Xpcc

Xeroderma Pigmentosum Iii

Xp3

Xeroderma Pigmentosum Group C

Xp Group C

Xp, Group C

Xeroderma Pigmentosum, Type 3

Xeroderma Pigmentosum Complementation Group C

XP-C

Uv-Sensitive Syndrome

Uvss

Uv Sensitive Syndrome

Ultraviolet Sensitive Syndrome

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

直系同源

种属 基因名 来源 基因 ID
Felis catus GTF2H1 VGNC VGNC:67498
Bos taurus GTF2H1 VGNC VGNC:29695
Canis familiaris GTF2H1 VGNC VGNC:41547
Macaca mulatta GTF2H1 VGNC VGNC:73311
Mus musculus GTF2H1 MGD MGI:1277216
Rattus norvegicus GTF2H1 RGD RGD:1308225