Sequence in raw or FASTA format:
GTF2H5 general transcription factor IIH, polypeptide 5 [Homo sapiens (human)]
|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||
|Organism||Homo sapiens (human)|
|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].|
Trichothiodystrophy, complementation group A, 601675 (3)
|hsa03022||Basal transcription factors|
|hsa03420||Nucleotide excision repair|
|Homo sapiens (human)||GTF2H5||NP_997001.1|
|Pan troglodytes (chimpanzee)||GTF2H5||XP_001145020.1|
|Macaca mulatta (Rhesus monkey)||GTF2H5||XP_001092693.1|
|Canis lupus familiaris (dog)||GTF2H5||XP_005615600.1|
|Bos taurus (cattle)||GTF2H5||NP_001035627.1|
|Mus musculus (house mouse)||Gtf2h5||NP_852057.2|
|Rattus norvegicus (Norway rat)||Gtf2h5||NP_001119560.1|
|Gallus gallus (chicken)||GTF2H5||NP_001091004.1|
|Danio rerio (zebrafish)||gtf2h5||NP_001127834.2|
|Drosophila melanogaster (fruit fly)||Tfb5||NP_001137791.2|
|Xenopus (Silurana) tropicalis (western clawed frog)||gtf2h5||NP_001017298.1|
|GO:0006355||regulation of transcription, DNA-templated||IEA|
|GO:0000439||core TFIIH complex||IEA|
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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