Gene Gene information from NCBI Gene database.
Entrez ID 2965
Gene name General transcription factor IIH subunit 1
Gene symbol GTF2H1
Synonyms (NCBI Gene)
BTF2P62TFB1TFIIH
Chromosome 11
Chromosome location 11p15.1
miRNA miRNA information provided by mirtarbase database.
451
miRTarBase ID miRNA Experiments Reference
MIRT000851 hsa-miR-15a-5p Microarray 18362358
MIRT000850 hsa-miR-16-5p Microarray 18362358
MIRT021862 hsa-miR-132-3p Microarray 17612493
MIRT024028 hsa-miR-1-3p Proteomics 18668040
MIRT028676 hsa-miR-30a-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000079 Process Regulation of cyclin-dependent protein serine/threonine kinase activity TAS 7533895
GO:0000439 Component Transcription factor TFIIH core complex IBA
GO:0000439 Component Transcription factor TFIIH core complex IDA 8692841
GO:0000439 Component Transcription factor TFIIH core complex IEA
GO:0003682 Function Chromatin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
189972 4655 ENSG00000110768
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P32780
Protein name General transcription factor IIH subunit 1 (Basic transcription factor 2 62 kDa subunit) (BTF2 p62) (General transcription factor IIH polypeptide 1) (TFIIH basal transcription factor complex p62 subunit)
Protein 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
PDB 1PFJ , 2DII , 2RNR , 2RUK , 2RVB , 5GOW , 5XV8 , 6NMI , 6O9L , 6O9M , 7AD8 , 7BUL , 7DTI , 7EGB , 7EGC , 7ENA , 7ENC , 7LBM , 7NVR , 7NVW , 7NVX , 7NVY , 7NVZ , 7NW0 , 8BVW , 8BYQ , 8EBS , 8EBT , 8EBU , 8EBV , 8EBW , 8EBX , 8EBY , 8GXQ , 8GXS , 8WAK , 8WAL , 8WAN , 8WAO , 8WAP , 8WAQ , 8WAR , 8WAS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08567 PH_TFIIH 16 97 TFIIH p62 subunit, N-terminal domain Domain
PF03909 BSD 180 236 BSD domain Domain
Sequence
MATSSEEVLLIVKKVRQKKQDGALYLMAERIAWAPEGKDRFTISHMYADIKCQKISPEGK
AKIQLQLVLHAGDTTNFHFSNESTAVKERDAVKDLLQ
QLLPKFKRKANKELEEKNRMLQE
DPVLFQLYKDLVVSQVISAEEFWANRLNVNATDSSSTSNHKQDVGISAAFLADVRPQTDG
CNGLRYNLTSDIIESIFRTYPAVKMKYAENVPHNMTEKEFWTRFFQSHYFHRDRLN
TGSK
DLFAECAKIDEKGLKTMVSLGVKNPLLDLTALEDKPLDEGYGISSVPSASNSKSIKENSN
AAIIKRFNHHSAMVLAAGLRKQEAQNEQTSEPSNMDGNSGDADCFQPAVKRAKLQESIEY
EDLGKNNSVKTIALNLKKSDRYYHGPTPIQSLQYATSQDIINSFQSIRQEMEAYTPKLTQ
VLSSSAASSTITALSPGGALMQGGTQQAINQMVPNDIQSELKHLYVAVGELLRHFWSCFP
VNTPFLEEKVVKMKSNLERFQVTKLCPFQEKIRRQYLSTNLVSHIEEMLQTAYNKLHTWQ
SRRLMKKT
Sequence length 548
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Basal transcription factors
Nucleotide excision repair
Viral carcinogenesis
  Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
RNA Polymerase II Pre-transcription Events
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
TP53 Regulates Transcription of DNA Repair Genes
mRNA Capping
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase I Transcription Termination
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Elongation
RNA Polymerase II Transcription Initiation And Promoter Clearance
RNA Pol II CTD phosphorylation and interaction with CE
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Anemia Associate 28924235
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Associate 28924235, 36384536
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Inhibit 36384536
★☆☆☆☆
Found in Text Mining only
Lung Diseases Associate 24307700
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Associate 24307700, 36384536
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Inhibit 36384536
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 21251114, 38139171
★☆☆☆☆
Found in Text Mining only
Personality Disorders Associate 21251114
★☆☆☆☆
Found in Text Mining only
Thrombocytopenia Associate 28924235
★☆☆☆☆
Found in Text Mining only