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

GTF2H5 - general transcription factor IIH subunit 5 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as TTD; TFB5; TTD3; TTDA; TFIIH; TTD-A; TGF2H5; C6orf175; bA120J8.2

Gene ID: 404672 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA Protein Name
NM_207118.3 NP_997001.1 general transcription factor IIH subunit 5
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16669699 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within nucleotide-excision repair IMP
IMP: Inferred from mutant phenotype
23637614 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleolus IDA
IDA: Inferred from direct assay
23562818 GOA
part of transcription factor TFIID complex IDA
IDA: Inferred from direct assay
27193682 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

GTF2H5 Protein Structure

Tfb5

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

  • 0
  • 71 a.a.
Protein Preferred Names Protein Names

general transcription factor IIH subunit 5

TFB5 ortholog

GTF2H5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
GTF2H5 Q6ZYL4 ERCC3 Homo sapiens P19447
Anti Tag CoIP
16669699
Intra
GTF2H5 Q6ZYL4 ERCC3 Homo sapiens P19447
Anti Tag CoIP
19172752
Intra
GTF2H5 Q6ZYL4 ERCC3 Homo sapiens P19447
Anti Tag CoIP
26496610
Intra
GTF2H5 Q6ZYL4 GTF2H2 Homo sapiens Q13888
Anti Tag CoIP
28514442
Intra
GTF2H5 Q6ZYL4 GTF2H2 Homo sapiens Q13888
Anti Bait CoIP
16669699
Intra
GTF2H5 Q6ZYL4 GTF2H2 Homo sapiens Q13888
Anti Tag CoIP
19172752
Intra
GTF2H5 Q6ZYL4 GTF2H2 Homo sapiens Q13888
Anti Tag CoIP
26496610
Intra
GTF2H5 Q6ZYL4 GTF2H2 Homo sapiens Q13888
Anti Tag CoIP
33961781
Intra
GTF2H5 Q6ZYL4 ANKRD29 Homo sapiens Q8N6D5
Y2H Prey Pooling
32296183
Intra
GTF2H5 Q6ZYL4 ANKRD29 Homo sapiens Q8N6D5
Validated Y2H
32296183
Intra
GTF2H5 Q6ZYL4 ANKRD29 Homo sapiens Q8N6D5
Y2H Array
32296183
Intra
GTF2H5 Q6ZYL4 GSC2 Homo sapiens O15499
Y2H Prey Pooling
32296183
Intra
GTF2H5 Q6ZYL4 GSC2 Homo sapiens O15499
Y2H Array
32296183
Intra
GTF2H5 Q6ZYL4 NGRN Homo sapiens Q9NPE2
Y2H Prey Pooling
32296183
Intra
GTF2H5 Q6ZYL4 NGRN Homo sapiens Q9NPE2
Validated Y2H
32296183
Intra
GTF2H5 Q6ZYL4 NGRN Homo sapiens Q9NPE2
Y2H Array
32296183
Intra
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Anti Tag CoIP
19172752
Intra
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Anti Tag CoIP
26496610
Intra
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Anti Tag CoIP
33961781
Intra
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Y2H Prey Pooling
32296183
Intra
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Validated Y2H
32296183
Intra
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Anti Tag CoIP
28514442
Intra
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Y2H Array
32296183
Intra
GTF2H5 Q6ZYL4 GTF2H4 Homo sapiens Q92759
Anti Bait CoIP
19172752
Intra
GTF2H5 Q6ZYL4 INCA1 Homo sapiens Q0VD86
Y2H Prey Pooling
32296183
Intra
GTF2H5 Q6ZYL4 INCA1 Homo sapiens Q0VD86
Y2H Array
32296183
Intra
GTF2H5 Q6ZYL4 AGR2 Homo sapiens O95994
Y2H Array
32296183
Intra
GTF2H5 Q6ZYL4 AGR2 Homo sapiens O95994
Y2H Prey Pooling
32296183
Intra
GTF2H5 Q6ZYL4 DDIT4L Homo sapiens Q96D03
Validated Y2H
32296183
Intra
GTF2H5 Q6ZYL4 DDIT4L Homo sapiens Q96D03
Y2H Prey Pooling
32296183
Intra
GTF2H5 Q6ZYL4 DDIT4L Homo sapiens Q96D03
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05902 GTF2H5 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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