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GTF2H5 general transcription factor IIH subunit 5 [ Homo sapiens (human) ]

Gene ID: 404672, updated on 3-Jan-2019

Summary

Official Symbol
GTF2H5provided by HGNC
Official Full Name
general transcription factor IIH subunit 5provided by HGNC
Primary source
HGNC:HGNC:21157
See related
Ensembl:ENSG00000272047 MIM:608780
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TTD; TFB5; TTD3; TTDA; TFIIH; TTD-A; TGF2H5; C6orf175; bA120J8.2
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]
Expression
Ubiquitous expression in brain (RPKM 4.4), fat (RPKM 3.8) and 25 other tissues See more
Orthologs

Genomic context

See GTF2H5 in Genome Data Viewer
Location:
6q25.3
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (158168316..158199344)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (158589379..158620376)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene SYNJ2 intronic transcript 1 Neighboring gene synaptojanin 2 Neighboring gene serine active site containing 1 Neighboring gene signal recognition particle 72 pseudogene 2 Neighboring gene tubby like protein 4 Neighboring gene small nucleolar RNA, H/ACA box 116

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Trichothiodystrophy 3, photosensitive
MedGen: C4017171 OMIM: 616395 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of smoking behaviours among Bangladeshi adults.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
rDNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
7-methylguanosine mRNA capping TAS
Traceable Author Statement
more info
 
cellular response to gamma radiation IEA
Inferred from Electronic Annotation
more info
 
global genome nucleotide-excision repair TAS
Traceable Author Statement
more info
 
nucleotide-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair, DNA incision TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 5'-to lesion TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, preincision complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleotide-excision repair, preincision complex assembly TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, preincision complex stabilization TAS
Traceable Author Statement
more info
 
phosphorylation of RNA polymerase II C-terminal domain IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
rRNA processing IEA
Inferred from Electronic Annotation
more info
 
termination of RNA polymerase I transcription TAS
Traceable Author Statement
more info
 
transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase I promoter IEA
Inferred from Electronic Annotation
more info
 
transcription elongation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase I promoter TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
transcription factor TFIID complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor TFIID complex IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor TFIIH core complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor TFIIH holo complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
general transcription factor IIH subunit 5
Names
TFB5 ortholog
TFIIH basal transcription factor complex TTD-A subunit
TFIIH basal transcription factor complex TTDA subunit
general transcription factor IIH, polypeptide 5

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011758.1 RefSeqGene

    Range
    5001..35998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_469

mRNA and Protein(s)

  1. NM_207118.2NP_997001.1  general transcription factor IIH subunit 5

    See identical proteins and their annotated locations for NP_997001.1

    Status: REVIEWED

    Source sequence(s)
    AL133347, AL590703, BC056906, BQ004444, CN403888
    Consensus CDS
    CCDS5256.1
    UniProtKB/Swiss-Prot
    Q6ZYL4
    Related
    ENSP00000476100.1, ENST00000607778.1
    Conserved Domains (1) summary
    pfam06331
    Location:168
    Tfb5; Transcription factor TFIIH complex subunit Tfb5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    158168316..158199344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010862.1XP_016866351.1  general transcription factor IIH subunit 5 isoform X1

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