2. Gene
  3. GTF2H5 - general transcription factor IIH subunit 5 Gene

GTF2H5 - general transcription factor IIH subunit 5 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 IIH 亚基 5

种属: Homo sapiens

同用名: TTD; TFB5; TTD3; TTDA; TFIIH; TTD-A; TGF2H5; C6orf175; bA120J8.2

基因 ID: 404672 | 基因类型: protein coding

关于 GTF2H5

Cytogenetic location: 6q25.3 Genomic coordinates (GRCh38): 6:158,168,350-158,199,344 (from NCBI)

This gene has 7 transcripts (splice variants), 216 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 4.4), fat (RPKM 3.8) and 25 other tissues.

功能概要

该基因编码转录/修复因子 TFIIH 的一个亚基，其在基因转录和 DNA 修复中发挥作用。该蛋白可刺激 ERCC3/XPB ATP 酶活性，从而在 DNA 修复过程中触发 DNA 打开，并参与调节 TFIIH 的细胞水平。该基因的突变导致毛发硫营养不良，互补组 A。[RefSeq 提供，2009 年 3 月]

This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]

GTF2H5 基因产物(1)

mRNA Protein Name
NM_207118.3 NP_997001.1 general transcription factor IIH subunit 5
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 protein binding IPI
IPI: 通过物理相互作用推断
16669699 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within nucleotide-excision repair IMP
IMP: 通过突变表型推断
23637614 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleolus IDA
IDA: 通过直接分析推断
23562818 GOA
part of transcription factor TFIID complex IDA
IDA: 通过直接分析推断
27193682 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

GTF2H5 蛋白结构

Tfb5

Tfb5: Transcription factor TFIIH complex subunit Tfb5 (1 - 69)

  • 0
  • 71 a.a.
蛋白主名 其他名称

general transcription factor IIH subunit 5

TFB5 ortholog

GTF2H5 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
GTF2H5 Q6ZYL4 ERCC3 Homo sapiens P19447
Anti Tag CoIP
16669699
种属内
GTF2H5 Q6ZYL4 ERCC3 Homo sapiens P19447
Anti Tag CoIP
19172752
种属内
GTF2H5 Q6ZYL4 ERCC3 Homo sapiens P19447
Anti Tag CoIP
26496610
种属内
GTF2H5 Q6ZYL4 GTF2H2 Homo sapiens Q13888
Anti Tag CoIP
28514442
种属内
GTF2H5 Q6ZYL4 GTF2H2 Homo sapiens Q13888
Anti Bait CoIP
16669699
种属内
GTF2H5 Q6ZYL4 GTF2H2 Homo sapiens Q13888
Anti Tag CoIP
19172752
种属内
GTF2H5 Q6ZYL4 GTF2H2 Homo sapiens Q13888
Anti Tag CoIP
26496610
种属内
GTF2H5 Q6ZYL4 GTF2H2 Homo sapiens Q13888
Anti Tag CoIP
33961781
种属内
GTF2H5 Q6ZYL4 ANKRD29 Homo sapiens Q8N6D5
Y2H Prey Pooling
32296183
种属内
GTF2H5 Q6ZYL4 ANKRD29 Homo sapiens Q8N6D5
Validated Y2H
32296183
种属内
GTF2H5 Q6ZYL4 ANKRD29 Homo sapiens Q8N6D5
Y2H Array
32296183
种属内
GTF2H5 Q6ZYL4 GSC2 Homo sapiens O15499
Y2H Prey Pooling
32296183
种属内
GTF2H5 Q6ZYL4 GSC2 Homo sapiens O15499
Y2H Array
32296183
种属内
GTF2H5 Q6ZYL4 NGRN Homo sapiens Q9NPE2
Y2H Prey Pooling
32296183
种属内
GTF2H5 Q6ZYL4 NGRN Homo sapiens Q9NPE2
Validated Y2H
32296183
种属内
GTF2H5 Q6ZYL4 NGRN Homo sapiens Q9NPE2
Y2H Array
32296183
种属内
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Anti Tag CoIP
19172752
种属内
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Anti Tag CoIP
26496610
种属内
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Anti Tag CoIP
33961781
种属内
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Y2H Prey Pooling
32296183
种属内
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Validated Y2H
32296183
种属内
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Anti Tag CoIP
28514442
种属内
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Y2H Array
32296183
种属内
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Anti Bait CoIP
19172752
种属内
GTF2H5 Q6ZYL4 INCA1 Homo sapiens Q0VD86
Y2H Prey Pooling
32296183
种属内
GTF2H5 Q6ZYL4 INCA1 Homo sapiens Q0VD86
Y2H Array
32296183
种属内
GTF2H5 Q6ZYL4 AGR2 Homo sapiens O95994
Y2H Array
32296183
种属内
GTF2H5 Q6ZYL4 AGR2 Homo sapiens O95994
Y2H Prey Pooling
32296183
种属内
GTF2H5 Q6ZYL4 DDIT4L Homo sapiens Q96D03
Validated Y2H
32296183
种属内
GTF2H5 Q6ZYL4 DDIT4L Homo sapiens Q96D03
Y2H Prey Pooling
32296183
种属内
GTF2H5 Q6ZYL4 DDIT4L Homo sapiens Q96D03
Y2H Array
32296183
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
Trichothiodystrophy 3, Photosensitive

TTD3

Trichothiodystrophy, Complementation Group A

Ttda

Photosensitive Trichothiodystrophy 3

Trichothiodystrophy Complementation Group A
Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

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

Ibids

Pibids

Trichothiodystrophy Syndromes
Trichothiodystrophy 1, Photosensitive

TTD1

Tay Syndrome

Trichothiodystrophy With Congenital Ichthyosis

Photosensitive Trichothiodystrophy

Ibids Syndrome

Ttdp

Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation

Ichthyosis, Congenital, With Trichothiodystrophy

Pibids Syndrome

Photosensitive Trichothiodystrophy 1

Trichothiodystrophy, Photosensitive

Sulfur-Deficient Brittle Hair Syndrome

Ttd-P

Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature

Trichothiodystrophy Photosensitive

Trichothiodystrophy, Type 1

Tricho-Thiodystrophy Disorder

Trichothiodystrophy Syndromes

Amish Brittle Hair Brain Syndrome
Rectosigmoid Junction Neoplasm

Neoplasm Of Rectosigmoid Junction

Rectosigmoid Neoplasm

Rectosigmoid Tumor

Rectosigmoid Carcinoma

Carcinoma Of The Rectosigmoid Junction

Malignant Tumor Of Rectosigmoid Junction

Rectosigmoid Junction Cancer

Primary Malignant Neoplasm Of Rectosigmoid Junction

Rectosigmoid Colon Cancer

Carcinoma Of Rectum With Sigmoid

Colorectal Cancer Nos

Colorectal Carcinoma Nos

Rectosigmoid Cancer
Sigmoid Neoplasm

Sigmoid Neoplasms

Neoplasm Of Sigmoid Colon

Tumor Of Sigmoid Colon
Xeroderma Pigmentosum, Complementation Group B

Xeroderma Pigmentosum Group B

Xeroderma Pigmentosum, Group B

XPB

Xpbc

Xp Group B

Xp, Group B

Xeroderma Pigmentosum Complementation Group B

XP-B

Xeroderma Pigmentosum Group B With Cockayne Syndrome

Xeroderma Pigmentosum Ii

Xp2

Xp-B/Cs
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
Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis
Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome

Cofs Syndrome

Pena-Shokeir Syndrome Type 2

Pena Shokeir Syndrome Type 2
Uv-Sensitive Syndrome

Uvss

Uv Sensitive Syndrome

Ultraviolet Sensitive Syndrome
Xeroderma Pigmentosum, Complementation Group D

Xeroderma Pigmentosum, Group D

Xpdc

Xeroderma Pigmentosum Iv

XPD

Xeroderma Pigmentosum Group D

Xeroderma Pigmentosum Viii

Xp Group D

Xp Group H

Xp4

Xp8

Xph

Xp, Group D

Xp4 Xeroderma Pigmentosum Viii, Formerly

Xp8, Formerly

Xp, Group H, Formerly

Xph, Formerly

Xeroderma Pigmentosum Complementation Group D

XP-D

Xp-D/Cs
Chromosome 6q24-Q25 Deletion Syndrome

Chromosome 6q25-Q25 Deletion Syndrome

6q25 Microdeletion Syndrome

Monosomy 6q25

Del(6)(Q25)
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 Group E

Xeroderma Pigmentosum, Group E

Xeroderma Pigmentosum V

Xp Group E

Xp5

Xpe

Xeroderma Pigmentosum, Complementation Group E
De Sanctis-Cacchione Syndrome

Xerodermic Idiocy

Xeroderma Pigmentosum With Neurologic Manifestation

DSC

Xerodermic Idiocy Of De Sanctis And Cacchione
Cockayne Syndrome A

Cockayne Syndrome Type 1

Cockayne Syndrome, Type A

Cockayne Syndrome Type I

CSA

Cockayne Syndrome Classic Form

Cockayne Syndrome Classical

Cockayne Syndrome Type A

Ckn1
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05902 GTF2H5 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus GTF2H5 RGD RGD:1560991
Canis familiaris GTF2H5 VGNC VGNC:41549
Mus musculus GTF2H5 MGD MGI:107227
Bos taurus GTF2H5 VGNC VGNC:29698
Felis catus GTF2H5 VGNC VGNC:102435
Macaca mulatta GTF2H5 VGNC VGNC:73211
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