GTF2H1: General Transcription Factor IIH Subunit 1
A core component of the TFIIH transcription and nucleotide excision repair complex
Gene Information Card
| Symbol | GTF2H1 |
|---|---|
| Full Name | General Transcription Factor IIH Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.1 |
| NCBI Gene ID | 2965 ncbi.nlm.nih.gov/gene/2965 |
| Ensembl ID | ENSG00000168036 |
| UniProt ID | P32780 |
| OMIM ID | 189972 |
| HGNC ID | 4655 |
| Aliases | BTF2, TFIIH, TFB1, p62 |
Description
GTF2H1 encodes the p62 subunit of the general transcription factor IIH (TFIIH) complex. TFIIH is essential for RNA polymerase II transcription initiation and also plays a critical role in nucleotide excision repair (NER) of damaged DNA. The p62 subunit is involved in stabilizing the TFIIH complex and mediating interactions with other repair and transcription factors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Xeroderma Pigmentosum (XP) | Defects in NER due to TFIIH dysfunction lead to UV-induced DNA damage accumulation. GTF2H1 mutations impair repair capacity. | OMIM #278730; ClinVar |
| Trichothiodystrophy (TTD) | Mutations in TFIIH subunits cause TTD, characterized by brittle hair and developmental defects. GTF2H1 variants are rare but reported. | OMIM #601675 |
| Cockayne Syndrome (CS) | TFIIH dysfunction can contribute to CS features, though primarily linked to ERCC6/ERCC8. GTF2H1 involvement is indirect. | OMIM #216400 |
| Cancer (various) | Somatic mutations in GTF2H1 are found in several cancers, potentially affecting transcription and repair. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 10.5 | Medium |
| Liver | 9.8 | Medium |
| Heart | 8.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HEK293 | 13.2 | Embryonic kidney cells |
| K562 | 11.9 | Leukemia cell line |
| A549 | 10.7 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Impaired TFIIH stability; associated with XP |
| c.2345_2346insA | Frameshift | <0.01% | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most GTF2H1 mutations result in loss of function, impairing TFIIH complex assembly and reducing transcription and NER activity.
Gain of Function (GOF)
No gain-of-function mutations are currently documented.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by incorporating mutant p62 into TFIIH, disrupting complex function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nucleotide Excision Repair (hsa03420)
• RNA Polymerase II Transcription Initiation (hsa03022)
• Basal Transcription Factors (hsa03022)
Protein Summary
GTF2H1 encodes the 62 kDa subunit (p62) of the TFIIH complex. The protein contains a pleckstrin homology (PH) domain and a C-terminal domain that interacts with other TFIIH subunits (XPB, XPD, p44, p34). p62 is essential for complex integrity and for coupling transcription with DNA repair. It binds to damaged DNA and facilitates the opening of the DNA helix during NER.
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