Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
HomeAbout PhosphoSiteUsing PhosphoSiteprivacy & cookiesCuration ProcessContact
logos LINCs Logo Mt Sinai Logo NIH Logo NCI Logo
Protein Page:
PMS1 (human)

PMS1 Probably involved in the repair of mismatches in DNA. Defects in PMS1 are the cause of hereditary non-polyposis colorectal cancer type 3 (HNPCC3). Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. Belongs to the DNA mismatch repair MutL/HexB family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: DNA repair, damage; Tumor suppressor
Chromosomal Location of Human Ortholog: 2q31.1
Cellular Component: chiasma; MutLalpha complex; nucleus; synaptonemal complex
Molecular Function: ATPase activity; DNA binding; single-stranded DNA binding
Disease: Lynch Syndrome I
Reference #:  P54277 (UniProtKB)
Alt. Names/Synonyms: DKFZp781M0253; DNA mismatch repair protein PMS1; FLJ98259; HNPCC3; hPMS1; human homolog of yeast mutL; mismatch repair gene PMSL1; PMS1; PMS1 postmeiotic segregation increased 1 (S. cerevisiae); PMS1 protein homolog 1; PMSL1; rhabdomyosarcoma antigen MU-RMS-40.10B; rhabdomyosarcoma antigen MU-RMS-40.10E
Gene Symbols: PMS1
Molecular weight: 105,830 Da
Basal Isoelectric point: 6.23  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.
Download PyMol Script
Download ChimeraX Script

STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Scansite  |  Pfam  |  RCSB PDB  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene