PMS1 Gene - DNA Mismatch Repair Protein
PMS1 Homolog 1, Mismatch Repair System Component
Gene Information Card
| Symbol | PMS1 |
|---|---|
| Full Name | PMS1 Homolog 1, Mismatch Repair System Component |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 5378 ncbi.nlm.nih.gov/gene/5378 |
| Ensembl ID | ENSG00000164933 |
| UniProt ID | P54277 |
| OMIM ID | 600258 |
| HGNC ID | 9121 |
| Aliases | PMSL1, hPMS1, MLH2 |
Description
PMS1 (PMS1 Homolog 1, Mismatch Repair System Component) is a protein-coding gene that encodes a protein involved in DNA mismatch repair (MMR). The PMS1 protein forms a heterodimer with MLH1 (MutL homolog 1) to create the MutLα complex, which is essential for recognizing and repairing base-base mismatches and insertion-deletion loops that occur during DNA replication. Defects in PMS1 are associated with hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, and other cancers with microsatellite instability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lynch Syndrome (Hereditary Non-Polyposis Colorectal Cancer) | Germline mutations in PMS1 impair DNA mismatch repair, leading to microsatellite instability and increased risk of colorectal and other cancers. | ClinVar, OMIM |
| Endometrial Cancer | PMS1 deficiency contributes to microsatellite instability in endometrial tumors, often in the context of Lynch syndrome. | ClinVar, COSMIC |
| Ovarian Cancer | Loss of PMS1 function is observed in ovarian cancers with microsatellite instability. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Colon | 10.5 | Medium |
| Small Intestine | 9.8 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.0 | Cervical cancer cell line |
| HCT116 | 8.5 | Colorectal carcinoma cell line |
| MCF7 | 7.2 | Breast cancer cell line |
| A549 | 6.8 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.137G>T (p.Ser46Ile) | Missense | Rare | Uncertain significance; reported in Lynch syndrome families |
| c.989-2A>G | Splice site | Rare | Likely pathogenic; disrupts splicing and protein function |
| c.1A>G (p.Met1?) | Start loss | Rare | Pathogenic; loss of translation initiation |
| c.2174dupA (p.Asn725Lysfs*2) | Frameshift | Rare | Pathogenic; truncation and loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PMS1 mutations result in loss of mismatch repair activity, leading to microsatellite instability and increased mutation rate.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PMS1.
Dominant Negative (DN)
Some missense mutations may exert a dominant-negative effect by interfering with the MutLα complex formation.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005524 - ATP binding | • GO:0006298 - mismatch repair |
| • GO:0032301 - MutLalpha complex | • GO:0005634 - nucleus |
| • GO:0003677 - DNA binding |
Pathways
• Mismatch Repair (hsa03430)
• Colorectal Cancer (hsa05210)
Protein Summary
The PMS1 protein (UniProt P54277) is a 932-amino acid protein that belongs to the DNA mismatch repair MutL family. It contains an N-terminal ATPase domain and a C-terminal domain involved in protein-protein interactions. PMS1 heterodimerizes with MLH1 to form the MutLα complex, which is recruited to DNA mismatches by the MutSα (MSH2-MSH6) or MutSβ (MSH2-MSH3) complexes. The complex then nicks the newly synthesized strand and facilitates excision and resynthesis. PMS1 is essential for maintaining genomic stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PMS1 Knockout HEK293 Cell Line | EDC90185 | Human | 5378 | Details Get a Quote |
| PMS1 Knockout A-549 Cell Line | EDJ-KQ22673 | Human | 5378 | Details Get a Quote |
| PMS1 Knockout HCT 116 Cell Line | EDJ-KQ22675 | Human | 5378 | Details Get a Quote |
| PMS1 Knockout HeLa Cell Line | EDJ-KQ22676 | Human | 5378 | Details Get a Quote |
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