GTF2H5 Gene Summary [Human]
This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]
Details
| Type | Protein Coding |
| Official Symbol | GTF2H5 |
| Official Name | general transcription factor IIH subunit 5 [Source:HGNC Symbol;Acc:HGNC:21157] |
| Ensembl ID | ENSG00000272047 |
| Bio databases IDs | |
| Aliases | general transcription factor IIH subunit 5, DNA repair syndrome trichothiodystrophy group A |
| Synonyms | 2700017P07Rik, 2810432H05Rik, bA120J8.2, C6orf175, D17Wsu155e, FLJ21221, general transcription factor IIH, polypeptide 5, general transcription factor IIH subunit 5, RGD1560991, TFB5, TFIIH, TGF2H5, TTD, TTD3, TTD-A |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GTF2H5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- Transcription factor TFIIH complex subunit Tfb5
Pathways
Biological processes and signaling networks where the GTF2H5 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GTF2H5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
- cellular response to gamma radiation
- transcription elongation from RNA polymerase I promoter
- nucleotide-excision repair, preincision complex assembly
- transcription from RNA polymerase II promoter
- nucleotide-excision repair
- transcription initiation from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- transcription factor TFIID complex
- cytoplasm
- core TFIIH complex
- holo TFIIH complex
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding