Reviewed,
UniProtKB/Swiss-Prot P54277 (PMS1_HUMAN)
Last modified
November 25, 2008.
Version 83.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: PMS1 protein homolog 1 Alternative name(s): DNA mismatch repair protein PMS1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 932 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Probably involved in the repair of mismatches in DNA. |
| Subcellular location | NucleusPotential. |
| Involvement in 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 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. |
| Sequence similarities | Belongs to the DNA mismatch repair mutL/hexB family. Contains 1 HMG box DNA-binding domain. |
Ontologies
Keywords | |
|---|---|
| Biological process | Cell cycle DNA damage DNA repair |
| Cellular component | Nucleus |
| Coding sequence diversity | Polymorphism |
| Disease | Disease mutation Hereditary nonpolyposis colorectal cancer |
| Molecular function | Anti-oncogene |
| Technical term | 3D-structure |
Gene Ontology (GO) | |
| Biological process | mismatch repair Ref.1 Traceable author statement. Source: ProtInc negative regulation of cell cycleInferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependentInferred from electronic annotation. Source: InterPro |
| Cellular component | nucleus Ref.1 Traceable author statement. Source: ProtInc |
| Molecular function | ATP binding Inferred from electronic annotation. Source: InterPro mismatched DNA bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||
Molecule processing | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 932 | 932 | PMS1 protein homolog 1 | PRO_0000178004 | |||||||||||||
Regions | |||||||||||||||||
| DNA binding | 571 – 639 | 69 | HMG box | ||||||||||||||
Natural variations | |||||||||||||||||
| Natural variant | 27 | 1 | E → Q: dbSNP rs5742973. | VAR_019166 | |||||||||||||
| Natural variant | 202 | 1 | R → K: dbSNP rs2066459. | VAR_014877 | |||||||||||||
| Natural variant | 394 | 1 | M → T in incomplete HNPCC3. dbSNP rs1145231. | VAR_012967 | |||||||||||||
| Natural variant | 501 | 1 | G → R in incomplete HNPCC3. dbSNP rs1145232. | VAR_012968 | |||||||||||||
| Natural variant | 632 | 1 | N → S: dbSNP rs2066456. | VAR_014878 | |||||||||||||
| Natural variant | 720 | 1 | E → D: dbSNP rs2066455. | VAR_014879 | |||||||||||||
| Natural variant | 793 | 1 | Y → H: dbSNP rs1145234. | VAR_014880 | |||||||||||||
Secondary structure | |||||||||||||||||
Helix Strand Turn | |||||||||||||||||
| Helix | 577 – 592 | 16 | |||||||||||||||
| Helix | 598 – 610 | 13 | |||||||||||||||
| Helix | 614 – 625 | 12 | |||||||||||||||
| Turn | 626 – 628 | 3 | |||||||||||||||
| Helix | 629 – 638 | 10 | |||||||||||||||
Sequences
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References
| [1] | "Mutations of two PMS homologues in hereditary nonpolyposis colon cancer." Nicolaides N.C., Papadopoulos N., Liu B., Wei Y.-F., Carter K.C., Ruben S.M., Rosen C.A., Haseltine W.H., Fleischmann R.D., Fraser C.M., Adams M.D., Venter J.C., Dunlop M.G., Hamilton S.R., Petersen G.M., de la Chapelle A., Vogelstein B., Kinzler K.W. Nature 371:75-80(1994) [PubMed: 8072530] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Gall bladder. |
| [2] | "NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)." Rieder M.J., Livingston R.J., Daniels M.R., Chung M.-W., Miyamoto K.E., Nguyen C.P., Nguyen D.A., Poel C.L., Robertson P.D., Schackwitz W.S., Sherwood J.K., Witrak L.A., Nickerson D.A. Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLN-27; LYS-202; ARG-501; SER-632; ASP-720 AND HIS-793. |
| [3] | "Solution structure of the HMG domain of human DNA mismatch repair protein." RIKEN structural genomics initiative (RSGI) Submitted (NOV-2005) to the PDB data bank Cited for: STRUCTURE BY NMR OF 571-649. |
| [4] | "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 J.-C., Maugard C., Navarro C., Ruano E., Descos L., Trillet-Lenoir V., Bosset J.-F., Puisieux A. Hum. Genet. 105:79-85(1999) [PubMed: 10480359] [Abstract] Cited for: VARIANTS HNPCC3 THR-394 AND ARG-501. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| U13695 Genomic DNA. Translation: AAA63922.1. AY267352 Genomic DNA. Translation: AAO89079.1. | |||||||||||||
| PIR | S47597. | ||||||||||||
| RefSeq | NP_000525.1. | ||||||||||||
| UniGene | Hs.111749 | ||||||||||||
3D structure databases | |||||||||||||
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| ModBase | Search... | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | P54277. | ||||||||||||
Polymorphism databases | |||||||||||||
| NIEHS-SNPs | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENSG00000064933. Homo sapiens. [Contig view] | ||||||||||||
| GeneID | 5378. | ||||||||||||
| KEGG | hsa:5378. | ||||||||||||
Organism-specific databases | |||||||||||||
| HGNC | HGNC:9121. PMS1. | ||||||||||||
| HPA | CAB010233. | ||||||||||||
| MIM | 600258. gene+phenotype. | ||||||||||||
| Orphanet | 144. Colon cancer, familial nonpolyposis. | ||||||||||||
| PharmGKB | PA33447. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
| GeneCards | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOGENOM | P54277. | ||||||||||||
| HOVERGEN | P54277. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | P54277. | ||||||||||||
| CleanEx | HS_PMS1. | ||||||||||||
| GermOnline | ENSG00000064933. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR003594. ATP_bd_ATPase. IPR002099. DNA_mismatch_repair. IPR013507. DNA_mismatch_repair_C. IPR014762. DNA_mismatch_repair_CS. IPR014763. DNA_mismatch_repair_N. IPR000910. HMG_1/2_box. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:3.30.565.10. ATP_bd_ATPase. 1 hit. G3DSA:1.10.30.10. HMG-box. 1 hit. | ||||||||||||
| PANTHER | PTHR10073. DNA_mis_repair. 1 hit. | ||||||||||||
| Pfam | PF01119. DNA_mis_repair. 1 hit. PF02518. HATPase_c. 1 hit. PF00505. HMG_box. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00387. HATPase_c. 1 hit. SM00398. HMG. 1 hit. [Graphical view] | ||||||||||||
| TIGRFAMs | TIGR00585. mutl. 1 hit. | ||||||||||||
| PROSITE | PS00058. DNA_MISMATCH_REPAIR_1. 1 hit. PS50118. HMG_BOX_2. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| NextBio | 20866. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | PMS1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P54277 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 2 Human chromosome 2: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


