SPRTN Gene Summary [Human]
The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
Details
| Type | Protein Coding |
| Official Symbol | SPRTN |
| Official Name | SprT-like N-terminal domain [Source:HGNC Symbol;Acc:HGNC:25356] |
| Ensembl ID | ENSG00000010072 |
| Bio databases IDs | |
| Aliases | SprT-like N-terminal domain, SprT-like domain at the N terminus, DNA damage-targeting VCP (p97) adaptor |
| Synonyms | C1orf124, DVC1, Gm505, PRO4323, RGD1559496, Spartan, SprT-like N-terminal domain |
| 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 SPRTN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SprT-like family
- YgjP-like, metallopeptidase domain
- single-stranded DNA binding
- Rad18-like CCHC zinc finger
- double-stranded DNA binding
- peptidase
- ubiquitin binding
- protein binding
- SprT homologues
- metalloendopeptidase
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
- nuclear speckles
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPRTN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- proteolysis
- positive regulation of protein ubiquitination
- response to UV
- protein autoprocessing
- response to DNA damage stimulus
- translesion synthesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear speck
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- ubiquitin binding
- polyubiquitin binding
- metal ion binding
- K63-linked polyubiquitin binding
- double-stranded DNA binding
- metalloendopeptidase activity
- single-stranded DNA binding