GTF2H4
entrez
2968
canonical
uniprot
Q92759
canonical
ensembl
ENSG00000213780
resolver
ensembl
ENSG00000221974
resolver
ensembl
ENSG00000226384
resolver
ensembl
ENSG00000233149
resolver
ensembl
ENSG00000234370
resolver
ensembl
ENSG00000236895
resolver
ensp
ENSP00000259895
resolver
genesymbol
GTF2H4
resolver
hgnc
HGNC:4658
resolver
uniprot
B4DTJ5
resolver
uniprot
Q76KU4
resolver
uniprot_entry
TF2H4_HUMAN
resolver
uniprot_sec
B4DTJ5
resolver
uniprot_sec
Q76KU4
resolver
amino_acid_sequence
MESTPSRGLNRVHLQCRNLQEFLGGLSPGVLDRLYGHPATCLAVFRELPSLAKNWVMRMLFLEQPLPQAAVALWVKKEFSKAQEESTGLLSGLRIWHTQLLPGGLQGLILNPIFRQNLRIALLGGGKAWSDDTSQLGPDKHARDVPSLDKYAEERWEVVLHFMVGSPSAAVSQDLAQLLSQAGLMKSTEPGEPPCITSAGFQFLLLDTPAQLWYFMLQYLQTAQSRGMDLVEILSFLFQLSFSTLGKDYSVEGMSDSLLNFLQHLREFGLVFQRKRKSRRYYPTRLAINLSSGVSGAGGTVHQPGFIVVETNYRLYAYTESELQIALIALFSEMLYRFPNMVVAQVTRESVQQAIASGITAQQIIHFLRTRAHPVMLKQTPVLPPTITDQIRLWELERDRLRFTEGVLYNQFLSQVDFELLLAHARELGVLVFENSAKRLMVVTPAGHSDVKRFWKRQKHSS
uniprot
proteins
disease_involvement
DISEASE: Xeroderma pigmentosum, complementation group J (XP-J) [MIM:621435]: A form of xeroderma pigmentosum, an autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. {ECO:0000269|PubMed:40924475}. Note=The disease may be 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. {ECO:0000269|PubMed:10024882, ECO:0000269|PubMed:9852112}.; FUNCTION: Stimulates the ATPase activity of TFIIH subunit XPB/ERCC3 (PubMed:17466626). {ECO:0000269|PubMed:17466626}.
uniprot
proteins
mass_dalton
52186
uniprot
proteins
protein_family
TFB2 family
uniprot
proteins
pubmed
10024882
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16702430
uniprot
proteins
pubmed
17466626
uniprot
proteins
pubmed
27193682
uniprot
proteins
pubmed
31253769
uniprot
proteins
pubmed
33902107
uniprot
proteins
pubmed
40924475
uniprot
proteins
pubmed
9118947
uniprot
proteins
pubmed
9852112
uniprot
proteins
sequence_length
462
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins