P54277 (PMS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 131.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames 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) [Reference proteome] | ||||
| 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. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Probably involved in the repair of mismatches in DNA. Ref.7 |
| Subunit structure | The MutL-beta complex is a heterodimer of PMS1 and MLH1. Ref.7 |
| Subcellular location | Nucleus Potential. |
| Involvement in disease | Hereditary non-polyposis colorectal cancer 3 (HNPCC3) [MIM:600258]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors 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. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by 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
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P54277-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: P54277-2) The sequence of this isoform differs from the canonical sequence as follows: 619-619: K → N 620-781: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: P54277-3) The sequence of this isoform differs from the canonical sequence as follows: 195-233: Missing. |
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 | |||||||||||||||||
| Alternative sequence | 195 – 233 | 39 | Missing in isoform 3. | VSP_043371 | |||||||||||||
| Alternative sequence | 619 | 1 | K → N in isoform 2. | VSP_042676 | |||||||||||||
| Alternative sequence | 620 – 781 | 162 | Missing in isoform 2. | VSP_042677 | |||||||||||||
| Natural variant | 27 | 1 | E → Q. Ref.3 Corresponds to variant rs5742973 [ dbSNP | Ensembl ]. | VAR_019166 | |||||||||||||
| Natural variant | 202 | 1 | R → K. Ref.3 Corresponds to variant rs2066459 [ dbSNP | Ensembl ]. | VAR_014877 | |||||||||||||
| Natural variant | 394 | 1 | M → T in incomplete HNPCC3. Ref.10 Corresponds to variant rs1145231 [ dbSNP | Ensembl ]. | VAR_012967 | |||||||||||||
| Natural variant | 501 | 1 | G → R in incomplete HNPCC3. Ref.3 Ref.10 Corresponds to variant rs1145232 [ dbSNP | Ensembl ]. | VAR_012968 | |||||||||||||
| Natural variant | 632 | 1 | N → S. Ref.3 Corresponds to variant rs2066456 [ dbSNP | Ensembl ]. | VAR_014878 | |||||||||||||
| Natural variant | 720 | 1 | E → D. Ref.3 Corresponds to variant rs2066455 [ dbSNP | Ensembl ]. | VAR_014879 | |||||||||||||
| Natural variant | 793 | 1 | Y → H. Ref.3 Corresponds to variant rs1145234 [ dbSNP | Ensembl ]. | 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
| « Hide 'large scale' 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Gall bladder. |
| [2] | "PMS1 mRNA, nirs splice variants." Hayashi A., Sameshima E., Tabata Y., Iida K., Mitsuyama M., Kanai S., Furuya T., Saito T. Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3). |
| [3] | NIEHS SNPs program 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. |
| [4] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-920 (ISOFORM 1). |
| [7] | "Identification of a second MutL DNA mismatch repair complex (hPMS1 and hMLH1) in human epithelial cells." Leung W.K., Kim J.J., Wu L., Sepulveda J.L., Sepulveda A.R. J. Biol. Chem. 275:15728-15732(2000) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBUNIT, INTERACTION WITH MLH1. |
| [8] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [9] | "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. |
| [10] | "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] [Europe PMC] [Abstract] Cited for: VARIANTS HNPCC3 THR-394 AND ARG-501. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | U13695 Genomic DNA. Translation: AAA63922.1. AB102870 mRNA. Translation: BAD89399.1. AB102875 mRNA. Translation: BAD89404.1. AY267352 Genomic DNA. Translation: AAO89079.1. AC008122 Genomic DNA. No translation available. AC013468 Genomic DNA. No translation available. CH471058 Genomic DNA. Translation: EAX10883.1. CH471058 Genomic DNA. Translation: EAX10885.1. BC096330 mRNA. Translation: AAH96330.1. BC096332 mRNA. Translation: AAH96332.1. | ||||||||||||
| IPI | IPI00005541. IPI00654710. IPI00896518. | ||||||||||||
| PIR | S47597. | ||||||||||||
| RefSeq | NP_000525.1. NM_000534.4. NP_001121615.1. NM_001128143.1. NP_001121616.1. NM_001128144.1. | ||||||||||||
| UniGene | Hs.111749. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
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| ProteinModelPortal | P54277. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | P54277. 1 interaction. | ||||||||||||
| STRING | 9606.ENSP00000406490. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | P54277. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 1709683. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | P54277. | ||||||||||||
| PRIDE | P54277. | ||||||||||||
Protocols and materials databases | |||||||||||||
| DNASU | 5378. | ||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000409823; ENSP00000387125; ENSG00000064933. ENST00000441310; ENSP00000406490; ENSG00000064933. ENST00000447232; ENSP00000401064; ENSG00000064933. | ||||||||||||
| GeneID | 5378. | ||||||||||||
| KEGG | hsa:5378. | ||||||||||||
| UCSC | uc002urh.4. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 5378. | ||||||||||||
| GeneCards | GC02P190648. | ||||||||||||
| H-InvDB | HIX0029784. | ||||||||||||
| HGNC | HGNC:9121. PMS1. | ||||||||||||
| HPA | CAB010233. | ||||||||||||
| MIM | 600258. gene+phenotype. | ||||||||||||
| neXtProt | NX_P54277. | ||||||||||||
| Orphanet | 144. Hereditary nonpolyposis colon cancer. | ||||||||||||
| PharmGKB | PA33447. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | COG0323. | ||||||||||||
| HOGENOM | HOG000039972. | ||||||||||||
| HOVERGEN | HBG031886. | ||||||||||||
| InParanoid | P54277. | ||||||||||||
| KO | K10864. | ||||||||||||
| OMA | PFFHHLT. | ||||||||||||
| OrthoDB | EOG41C6VK. | ||||||||||||
| PhylomeDB | P54277. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | P54277. | ||||||||||||
| Bgee | P54277. | ||||||||||||
| CleanEx | HS_PMS1. | ||||||||||||
| Genevestigator | P54277. | ||||||||||||
| GermOnline | ENSG00000064933. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 1.10.30.10. 1 hit. 3.30.230.10. 1 hit. 3.30.565.10. 1 hit. | ||||||||||||
| InterPro | IPR002099. DNA_mismatch_repair. IPR013507. DNA_mismatch_repair_C. IPR014762. DNA_mismatch_repair_CS. IPR014763. DNA_mismatch_repair_N. IPR003594. HATPase_ATP-bd. IPR009071. HMG_box_dom. IPR020568. Ribosomal_S5_D2-typ_fold. IPR014721. Ribosomal_S5_D2-typ_fold_subgr. [Graphical view] | ||||||||||||
| PANTHER | PTHR10073. PTHR10073. 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] | ||||||||||||
| SUPFAM | SSF55874. ATP_bd_ATPase. 1 hit. SSF47095. HMG-box. 1 hit. SSF54211. Ribosomal_S5_D2-typ_fold. 1 hit. | ||||||||||||
| TIGRFAMs | TIGR00585. mutl. 1 hit. | ||||||||||||
| PROSITE | PS00058. DNA_MISMATCH_REPAIR_1. 1 hit. PS50118. HMG_BOX_2. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| ChiTaRS | PMS1. human. | ||||||||||||
| EvolutionaryTrace | P54277. | ||||||||||||
| GenomeRNAi | 5378. | ||||||||||||
| NextBio | 20866. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | PMS1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P54277 Secondary accession number(s): D3DPI1 Q5FBZ8 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
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
