PMS1 Gene Summary [Human]
This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PMS1 |
| Official Name | PMS1 homolog 1, mismatch repair system component [Source:HGNC Symbol;Acc:HGNC:9121] |
| Ensembl ID | ENSG00000064933 |
| Bio databases IDs | |
| Aliases | PMS1 homolog 1, mismatch repair system component |
| Synonyms | HNPCC3, hPMS1, LOC100911809, MLH2, PMS1 homolog 1, mismatch repair system component, PMSL1 |
| 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 PMS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Histidine kinase-like ATPase domain
- high mobility group (HMG)-box domain superfamily
- DNA mismatch repair protein, C-terminal domain
- TopoII_MutL_Trans
- enzyme binding
- enzyme
- protein binding
- DNA binding
- Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
- HMG (high mobility group) box
- HMG-box domain
- high mobility group
- DNA mismatch repair protein MutL
- Histidine kinase-like ATPases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- renal clear cell adenocarcinoma
- renal clear cell cancer
- colorectal cancer
- diffuse large B-cell lymphoma
- B-cell non-Hodgkin disease
- mature B-cell neoplasia
- ovarian cancer
- Lynch syndrome
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
- nuclear fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PMS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mismatch repair
- response to xenobiotic stimulus
Cellular Component
Where in the cell the gene product is active
- nucleus
- MutLalpha complex
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- DNA binding
- protein binding
- mismatched DNA binding
- enzyme binding