GTF2H5
entrez
404672
canonical
uniprot
Q6ZYL4
canonical
ensembl
ENSG00000272047
resolver
ensp
ENSP00000476100
resolver
ensp
ENSP00000510706
resolver
ensp
ENSP00000510752
resolver
ensp
ENSP00000559696
resolver
ensp
ENSP00000559697
resolver
ensp
ENSP00000559699
resolver
ensp
ENSP00000559700
resolver
ensp
ENSP00000590980
resolver
ensp
ENSP00000590981
resolver
ensp
ENSP00000634730
resolver
enst
ENST00000607778
resolver
enst
ENST00000689809
resolver
enst
ENST00000691867
resolver
enst
ENST00000889637
resolver
enst
ENST00000889638
resolver
enst
ENST00000889640
resolver
enst
ENST00000889641
resolver
enst
ENST00000920921
resolver
enst
ENST00000920922
resolver
enst
ENST00000964671
resolver
genesymbol
GTF2H5
resolver
genesymbol_syn
C6orf175
resolver
genesymbol_syn
TTDA
resolver
hgnc
HGNC:21157
resolver
uniprot
Q0P5V8
resolver
uniprot_entry
TF2H5_HUMAN
resolver
uniprot_sec
Q0P5V8
resolver
amino_acid_sequence
MVNVLKGVLIECDPAMKQFLLYLDESNALGKKFIIQDIDDTHVFVIAELVNVLQERVGELMDQNAFSLTQK
uniprot
proteins
disease_involvement
DISEASE: Trichothiodystrophy 3, photosensitive (TTD3) [MIM:616395]: A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. {ECO:0000269|PubMed:15220921}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell. {ECO:0000269|PubMed:10024882, ECO:0000269|PubMed:15220921}.
uniprot
proteins
mass_dalton
8053
uniprot
proteins
protein_family
TFB5 family
uniprot
proteins
pubmed
10024882
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15220921
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
27193682
uniprot
proteins
pubmed
31253769
uniprot
proteins
pubmed
33902107
uniprot
proteins
sequence_length
71
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15220921}. Cytoplasm {ECO:0000250|UniProtKB:Q8K2X8}.
uniprot
proteins