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PMS1 |
Protein FULL name:
PMS1 protein homolog 1 isoform a [Homo sapiens].
PMS1 (Homo sapiens) is product of expression of PMS1 gene.
Human diseases related to this protein:
- LYNCH SYNDROME I (#120435 )
- COLORECTAL CANCER (#114500 )
- COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 (+600259)
PMS1 is involved in:
MMR in Homo sapiens
Keywords:
FUNCTION: Probably involved in the repair of mismatches in DNA.
SUBCELLULAR LOCATION: Nucleus (Potential).
DISEASE: Defects in PMS1 are the cause of hereditary non-polyposis colorectal cancer type 3 (HNPCC3) [MIM:600258]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPphenotype (also called Lynch syndrome). Most families with clinically recognized HNPhave mutations in either MLH1 or MSH2 genes. HNPis 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. HNPis 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 HNPoriginate within benign neoplastic polyps termed adenomas. Clinically, HNPis 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 HNPis 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.
SIMILARITY: Belongs to the DNA mismatch repair mutL/hexB family.
SIMILARITY: Contains 1 HMG box DNA-binding domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; [LINK]
WEB RESOURCE: Name=Hereditary non-polyposis colorectal cancer db; [LINK]
WEB RESOURCE: Name=NIEHS-SNPs; [LINK]
| NCBI GenPept GI number(s): |
4505911 |
| Species: | Homo sapiens |
Links to other databases:
| Database | ID | Link |
| Uniprot | P54277 |
P54277 |
| PFAM: | - |
P54277 (Link - using uniprot id) |
| InterPro: | - |
P54277 (Link - using uniprot id) |
| CATH: | None | |
| SCOP: | None | |
| PDB: | - | - |
Protein sequence:
|
MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFD KIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTYGFRGEALGSI CCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFK NLPVRKQFYSTAKKCKDEIKKIQDLLMSFGILKPDLRIVFVHNKAVIWQK SRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFT SLSTPERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKID VPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNK TDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESG KNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQ TEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSR GNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMNLNEDSCNKKS NVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLED ATLQIEELWKTLSEEEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDG RKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIP FSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPY RVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQ RYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADL KEILNAILNRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDI IYRMKHQFGNEIKECVHGRPFFHHLTYLPETT |
PMS1 (Homo sapiens) belongs to following protein families:
References:
| Title | Authors | Journal |
| Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. | Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, et al. | Nature Sept. 1, 1994 |
| Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. | Wang Q, Lasset C, Desseigne F, Saurin JC, Maugard C, Navarro C, Ruano E, Descos L, Trillet-Lenoir V, Bosset JF, Puisieux A | Hum Genet Jan. 1, 1999 |
Last modification of this entry: Oct. 14, 2010.
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