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

Gene ID: 404672, updated on 13-Sep-2014
Official Symbol
GTF2H5provided by HGNC
Official Full Name
general transcription factor IIH, polypeptide 5provided by HGNC
Primary source
HGNC:HGNC:21157
See related
Ensembl:ENSG00000272047; HPRD:10581; MIM:608780; Vega:OTTHUMG00000015906
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; 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]
See GTF2H5 in Epigenomics, MapViewer
Location:
6q25.3
Exon count:
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (158168347..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 (non-protein coding) Neighboring gene synaptojanin 2 Neighboring gene serine active site containing 1 Neighboring gene signal recognition particle 72kDa pseudogene 2 Neighboring gene tubby like protein 4 Neighboring gene transmembrane protein 181 Neighboring gene TatD DNase domain containing 2 pseudogene 2 Neighboring gene microRNA 7161

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
rDNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular response to gamma radiation IEA
Inferred from Electronic Annotation
more info
 
nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
 
nucleotide-excision repair, preincision complex assembly IEA
Inferred from Electronic Annotation
more info
 
rRNA processing IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription elongation from RNA polymerase I promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
core TFIIH complex IEA
Inferred from Electronic Annotation
more info
 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
general transcription factor IIH subunit 5
Names
general transcription factor IIH subunit 5
TFB5 ortholog
TFIIH basal transcription factor complex TTDA subunit
TFIIH basal transcription factor complex TTD-A subunit

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 

    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 proteins identical to NP_997001.1

    Status: REVIEWED

    Source sequence(s)
    AL133347, AL590703, BC056906, BQ004444, CN403888
    Consensus CDS
    CCDS5256.1
    UniProtKB/Swiss-Prot
    Q6ZYL4
    Related
    ENSP00000476100, OTTHUMP00000017501, ENST00000607778, OTTHUMT00000042865
    Conserved Domains (1) summary
    pfam06331
    Location:270
    Blast Score: 227
    Tbf5; Transcription factor TFIIH complex subunit Tfb5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    158168347..158199344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    156060590..156091731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    158851643..158883293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)