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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_207118 Homo sapiens general transcription factor IIH, polypeptide 5 (GTF2H5), mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10

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Gene Symbol GTF2H5
Entrez Gene ID 404672
Full Name general transcription factor IIH, polypeptide 5
Synonyms C6orf175, TFB5, TFIIH, TGF2H5, TTD, TTD-A, TTDA, bA120J8.2
General protein information
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
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6q25.3

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].
Disorder

MIM: 608780

Trichothiodystrophy, complementation group A, 601675 (3)

mRNA Protein Product Sequence Price Select
NM_207118, 224922844 NP_997001, 46359855 general transcription factor IIH subunit 5 ORF Sequence $99.00
KEGG
hsa03022Basal transcription factors
hsa03420Nucleotide excision repair
hsa_M00290Holo-TFIIH complex
Homo sapiens (human)GTF2H5NP_997001.1
Pan troglodytes (chimpanzee)GTF2H5XP_001145020.1
Macaca mulatta (Rhesus monkey)GTF2H5XP_001092693.1
Canis lupus familiaris (dog)GTF2H5XP_005615600.1
Bos taurus (cattle)GTF2H5NP_001035627.1
Mus musculus (house mouse)Gtf2h5NP_852057.2
Rattus norvegicus (Norway rat)Gtf2h5NP_001119560.1
Gallus gallus (chicken)GTF2H5NP_001091004.1
Danio rerio (zebrafish)gtf2h5NP_001127834.2
Drosophila melanogaster (fruit fly)Tfb5NP_001137791.2
Xenopus (Silurana) tropicalis (western clawed frog)gtf2h5NP_001017298.1
Process
IDNameEvidence
GO:0006289nucleotide-excision repairIMP
GO:0006351transcription, DNA-templatedIEA
GO:0006355regulation of transcription, DNA-templatedIEA
Component
IDNameEvidence
GO:0000439core TFIIH complexIEA
GeneCards GTF2H5
PDB 1YDL, 2JNJ
UniProt Q6ZYL4
Vega OTTHUMG00000015906
MIM 608780
Ensembl ENSG00000272047
HGNC 21157
HPRD 10581

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the GTF2H5 gene?

The GTF2H5 gene provides instructions for making a protein called p8 or TTDA. This protein is one part (subunit) of a group of related proteins known as the general transcription factor IIH (TFIIH) complex. The TFIIH complex has two major functions: it is involved in the process of gene transcription, which is the first step in protein production, and it helps repair damaged DNA.

DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. DNA damage occurs frequently, but normal cells are usually able to fix it before it can cause problems. One of the major mechanisms that cells use to fix DNA is known as nucleotide excision repair (NER). As part of this repair mechanism, the TFIIH complex opens up the section of double-stranded DNA that surrounds the damage. The TTDA protein helps with this process by stabilizing the TFIIH complex and maintaining its structure. Once the damaged region has been exposed, other proteins snip out (excise) the abnormal section and replace the damaged area with the correct DNA.

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