GTF2H1 (general transcription factor IIH subunit 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 2965 |
| Gene name | General transcription factor IIH subunit 1 |
| Gene symbol | GTF2H1 |
| Synonyms (NCBI Gene) |
BTF2P62TFB1TFIIH
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| Chromosome | 11 |
| Chromosome location | 11p15.1 |
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miRNA
miRNA information provided by mirtarbase database.
451
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Sequence |
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| Sequence length | 548 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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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)
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