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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 Show/Hide all (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 Show/Hide all (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
PF03909 BSD 180 → 236 BSD domain Domain
PF08567 PH_TFIIH 16 → 97 TFIIH p62 subunit, N-terminal 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 Pathway Reactome Pathway
Basal transcription factors Formation of RNA Pol II elongation complex
Nucleotide excision repair Formation of the Early Elongation Complex
Viral carcinogenesis 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.).
6
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.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 39998322
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA — GWAS catalog 23180869, 28470677
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS — GWAS catalog 33272962
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TERATOZOOSPERMIA — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (181)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 29974378, 31122822
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 30114705
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22963397, 29897944, 31665193, 31810936
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 16405664
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 31090940
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 19557423
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 28055007, 29576851
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 27737765, 28223223, 30235892, 31243684
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 22084127, 22972638, 23303844, 23417734, 23812289, 23884045, 24486447, 25114083, 25700176, 26302676, 26373655, 27016404, 27573878, 28076378, 28490746
View all (4 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) Amyotrophic lateral sclerosis BEFREE 20339559
★★★★★
★☆☆☆☆
Found in Text Mining only