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Ask your administrator if you think this is wrong. ======= GTF2H1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: GTF2H1 * **<color #00a2e8>Official Name</color>**: general transcription factor IIH subunit 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2965|2965]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P32780|P32780]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GTF2H1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GTF2H1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/189972|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: N/A * **<color #00a2e8>UniProt Summary</color>**: 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:9852112}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |BSD| |TFIIH BTF p62 N| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |phosphorylation of RNA polymerase II C-terminal domain| |transcription factor TFIIH core complex| |transcription factor TFIIH holo complex| |RNA polymerase II CTD heptapeptide repeat kinase activity| |nucleotide-excision repair, preincision complex stabilization| |nucleotide-excision repair, DNA incision, 3-to lesion| |nucleotide-excision repair, DNA duplex unwinding| |global genome nucleotide-excision repair| |nucleotide-excision repair, preincision complex assembly| |transcription elongation from RNA polymerase I promoter| |termination of RNA polymerase I transcription| |7-methylguanosine mRNA capping| |7-methylguanosine RNA capping| |RNA capping| |transcription initiation from RNA polymerase I promoter| |nucleotide-excision repair, DNA incision, 5-to lesion| |transcription by RNA polymerase I| |nucleotide-excision repair, DNA incision| |DNA-dependent ATPase activity| |DNA-templated transcription, termination| |transcription-coupled nucleotide-excision repair| |transcription elongation from RNA polymerase II promoter| |DNA-templated transcription, elongation| |regulation of cyclin-dependent protein serine/threonine kinase activity| |regulation of cyclin-dependent protein kinase activity| |DNA duplex unwinding| |nucleotide-excision repair| |DNA geometric change| |transcription initiation from RNA polymerase II promoter| |protein-DNA complex assembly| |DNA-templated transcription, initiation| |protein kinase activity| |protein-DNA complex subunit organization| |positive regulation of protein complex assembly| |DNA conformation change| |nucleic acid phosphodiester bond hydrolysis| |chromatin binding| |regulation of protein complex assembly| |mRNA processing| |transcription by RNA polymerase II| |DNA repair| |regulation of protein serine/threonine kinase activity| |positive regulation of cellular component biogenesis| |transcription, DNA-templated| |nucleic acid-templated transcription| |RNA biosynthetic process| |mRNA metabolic process| |DNA metabolic process| |cellular response to DNA damage stimulus| |regulation of protein kinase activity| |cellular protein-containing complex assembly| |regulation of kinase activity| |RNA processing| |regulation of cellular component biogenesis| |protein phosphorylation| |regulation of transferase activity| |chromosome organization| |nucleobase-containing compound biosynthetic process| |heterocycle biosynthetic process| |aromatic compound biosynthetic process| |regulation of cell cycle| |positive regulation of cellular component organization| |positive regulation of transcription by RNA polymerase II| |phosphorylation| |organic cyclic compound biosynthetic process| |regulation of protein phosphorylation| |positive regulation of transcription, DNA-templated| |protein-containing complex assembly| |regulation of phosphorylation| |cellular nitrogen compound biosynthetic process| |positive regulation of nucleic acid-templated transcription| |positive regulation of RNA biosynthetic process| |RNA metabolic process| |cellular response to stress| |cellular macromolecule biosynthetic process| |positive regulation of RNA metabolic process| |macromolecule biosynthetic process| |regulation of phosphate metabolic process| |regulation of phosphorus metabolic process| |regulation of protein modification process| |protein-containing complex subunit organization| |positive regulation of nucleobase-containing compound metabolic process| |positive regulation of macromolecule biosynthetic process| |positive regulation of cellular biosynthetic process| |positive regulation of gene expression| |gene expression| |positive regulation of biosynthetic process| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp308|Rapamycin 2μM plus FK-506 5μM R07 exp308]]|-1.75| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:z:zswim8|ZSWIM8]]|0.484| |[[:human genes:c:ccnh|CCNH]]|0.41| </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 72/726 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|1/28| |blood|5/28| |bone|4/25| |breast|3/33| |central nervous system|5/56| |cervix|1/4| |colorectal|3/17| |esophagus|1/13| |fibroblast|0/1| |gastric|1/15| |kidney|2/21| |liver|0/20| |lung|10/75| |lymphocyte|1/14| |ovary|5/26| |pancreas|1/24| |peripheral nervous system|2/16| |plasma cell|4/15| |prostate|1/1| |skin|2/24| |soft tissue|0/7| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|4/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 1634 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.81 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='GTF2H1 Expression in NALM6 Cells: 5.81'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1