GTF2H3 - general transcription factor IIH subunit 3 Gene

Also Known as P34; BTF2; TFB4; TFIIH

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2967

About GTF2H3

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:123,633,829-123,662,604 (from NCBI)

This gene has 14 transcripts (splice variants) and 206 orthologues. Ubiquitous expression in lymph node (RPKM 6.3), brain (RPKM 6.2) and 25 other tissues.

Summary

This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]

GTF2H3 Products (4)

mRNA Protein Name
NM_001271866.2 NP_001258795.1 general transcription factor IIH subunit 3 isoform b
NM_001271867.2 NP_001258796.1 general transcription factor IIH subunit 3 isoform c
NM_001271868.2 NP_001258797.1 general transcription factor IIH subunit 3 isoform d
NM_001516.5 NP_001507.2 general transcription factor IIH subunit 3 isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables RNA polymerase II general transcription initiation factor activity IDA
IDA: Inferred from direct assay
27193682 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8652557 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9852112 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of core TFIIH complex portion of holo TFIIH complex IDA
IDA: Inferred from direct assay
27193682 GOA
located in nucleus IDA
IDA: Inferred from direct assay
27193682 GOA
part of transcription factor TFIID complex IDA
IDA: Inferred from direct assay
27193682 GOA
part of transcription factor TFIIH holo complex IDA
IDA: Inferred from direct assay
9852112 GOA
part of transcription preinitiation 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

GTF2H3 Protein Structure

Tfb4

Tfb4: Transcription factor Tfb4 (9 - 286)

  • 0
  • 100
  • 200
  • 308 a.a.
Protein Preferred Names Protein Names

general transcription factor IIH subunit 3

  • TFIIH basal transcription factor complex p34 subunit

GTF2H3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
GTF2H3 Q13889 GTF2H2C Homo sapiens Q6P1K8
Y2H Prey Pooling
25416956
Intra
GTF2H3 Q13889 GTF2H2C Homo sapiens Q6P1K8
Y2H Array
25416956
Intra
GTF2H3 Q13889 GTF2H2C Homo sapiens Q6P1K8
TAP
24981860
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
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
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
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
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
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

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS05900 GTF2H3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus GTF2H3 VGNC VGNC:67499
Macaca mulatta GTF2H3 VGNC VGNC:99936
Bos taurus GTF2H3 VGNC VGNC:29696
Mus musculus GTF2H3 MGD MGI:1277143
Rattus norvegicus GTF2H3 RGD RGD:1305494