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PMS1 protein homolog 1; postmeiotic segregation increased-1; DNA mismatch repair protein PMS1 (PMS1, PMSL1)
Function:
- probably involved in the repair of mismatches in DNA
Structure:
- belongs to the DNA mismatch repair mutL/hexB family
- contains 1 HMG box DNA-binding domain
Compartment: nucleus (putative)
Pathology:
- defects in PMS1 are the cause of hereditary non-polyposis colorectal cancer type 3
Related
DNA mismatch repair; post-replication repair; DNA loop repair
PMS1 gene
General
mutL/PMS1 family protein
nuclear protein
Properties
SIZE: entity length = 932 aa
MW = 106 kD
COMPARTMENT: cell nucleus
MOTIF: HMG box
SITE: 571-639
References
- UniProt :accession P54277
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/PMS1ID345ch2q31.html
- Hereditary non-polyposis colorectal cancer db
http://www.nfdht.nl/
- NIEHS-SNPs
http://egp.gs.washington.edu/data/pms1/
Databases & Figures
OMIM 600258
UniProt P54277
PFAM correlations
Entrez Gene 5378
Kegg hsa:5378
mismatch repair scheme (v2)