PMS1

Protein-coding gene in humans

PMS1

Available structures

PDB

Human UniProt search: PDBe RCSB

List of PDB id codes
2CS1

Identifiers

Aliases

PMS1, HNPCC3, PMSL1, hMLH2, PMS1 homolog 1, mismatch repair system component

External IDs

OMIM: 600258 MGI: 1202302 HomoloGene: 449 GeneCards: PMS1

Gene location (Human)

Chr.	Chromosome 2 (human)^[1]

Band	2q32.2	Start	189,784,085 bp^[1]
Band	2q32.2	End	189,877,629 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 1 (mouse)^[2]

Band	1\|1 C1.1	Start	53,228,346 bp^[2]
Band	1\|1 C1.1	End	53,336,177 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

sperm

oocyte

endothelial cell

Achilles tendon

secondary oocyte

tibia

embryo

endometrium

right uterine tube

ganglionic eminence

Top expressed in

secondary oocyte

hand

primitive streak

foot

Paneth cell

urethra

male urethra

abdominal wall

neural tube

maxillary prominence

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	single-stranded DNA binding DNA binding ATP binding mismatched DNA binding ATPase activity enzyme binding
Cellular component	MutLalpha complex nucleus mismatch repair complex
Biological process	DNA repair cellular response to DNA damage stimulus DNA mismatch repair
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


5378


227099

Ensembl


ENSG00000064933


ENSMUSG00000026098

UniProt


P54277 Q5FBZ4


n/a

RefSeq (mRNA)

NM_000534 NM_001128143 NM_001128144 NM_001289408 NM_001289409
NM_001321044 NM_001321045 NM_001321046 NM_001321047 NM_001321048 NM_001321049 NM_001321051


NM_153556

RefSeq (protein)

NP_000525 NP_001121615 NP_001121616 NP_001276337 NP_001276338
NP_001307973 NP_001307974 NP_001307975 NP_001307976 NP_001307977 NP_001307978 NP_001307980


n/a

Location (UCSC)

Chr 2: 189.78 – 189.88 Mb

Chr 1: 53.23 – 53.34 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

PMS1 protein homolog 1 is a protein that in humans is encoded by the PMS1 gene.^[5]^[6]

Function

The protein encoded by this gene was identified by its homology to a yeast protein involved in DNA mismatch repair. A role for this protein in mismatch repair has not been proven. However, the protein forms heterodimers with MLH1, a DNA mismatch repair protein, and some cases of hereditary nonpolyposis colorectal cancer have been found to have mutations in this gene.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000064933 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026098 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM (Sep 1994). "Mutations of two PMS homologues in hereditary nonpolyposis colon cancer". Nature. 371 (6492): 75–80. Bibcode:1994Natur.371...75N. doi:10.1038/371075a0. PMID 8072530. S2CID 4244907.
^ ^a ^b "Entrez Gene: PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)".

Kolodner R (1996). "Biochemistry and genetics of eukaryotic mismatch repair". Genes Dev. 10 (12): 1433–42. doi:10.1101/gad.10.12.1433. PMID 8666228.
Horii A, Han HJ, Sasaki S, Shimada M, Nakamura Y (1994). "Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes". Biochem. Biophys. Res. Commun. 204 (3): 1257–64. doi:10.1006/bbrc.1994.2598. PMID 7980603.
Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD (1994). "Mutation of a mutL homolog in hereditary colon cancer". Science. 263 (5153): 1625–9. Bibcode:1994Sci...263.1625P. doi:10.1126/science.8128251. PMID 8128251.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Yanagisawa Y, Ito E, Iwahashi Y, Akiyama Y, Yuasa Y, Maruyama K (1998). "Isolation and characterization of the 5' region of the human mismatch repair gene hPMS1". Biochem. Biophys. Res. Commun. 243 (3): 738–43. doi:10.1006/bbrc.1998.8165. PMID 9500994.
Korabiowska M, Brinck U, Ruschenburg I, Dengler H, Droese M, Berger H (1999). "Expression of DNA mismatch repair genes in naevi". In Vivo. 13 (3): 251–4. PMID 10459502.
Wang Q, Lasset C, Desseigne F, Saurin JC, Maugard C, Navarro C, Ruano E, Descos L, Trillet-Lenoir V, Bosset JF, Puisieux A (1999). "Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer". Hum. Genet. 105 (1–2): 79–85. doi:10.1007/s004399900064. PMID 10480359.
Matton N, Simonetti J, Williams K (2000). "Identification of mismatch repair protein complexes in HeLa nuclear extracts and their interaction with heteroduplex DNA". J. Biol. Chem. 275 (23): 17808–13. doi:10.1074/jbc.M909794199. PMID 10748159.
Alvarez Soria MA, Justesen J, Hansen LL (2000). "Assignment of the human postmeiotic segregation increased (S. cerevisiae) 1 (PMS1) to chromosome 2q31.1 by radiation hybrid mapping". Cytogenet. Cell Genet. 88 (3–4): 200–1. doi:10.1159/000015546. PMID 10828585. S2CID 84779733.
Kondo E, Horii A, Fukushige S (2001). "The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2". Nucleic Acids Res. 29 (8): 1695–702. doi:10.1093/nar/29.8.1695. PMC 31313. PMID 11292842.
Plotz G, Raedle J, Brieger A, Trojan J, Zeuzem S (2002). "hMutSα forms an ATP-dependent complex with hMutLα and hMutLβ on DNA". Nucleic Acids Res. 30 (3): 711–8. doi:10.1093/nar/30.3.711. PMC 100294. PMID 11809883.
Kotoula V, Hytiroglou P, Kaloutsi V, Barbanis S, Kouidou S, Papadimitriou CS (2003). "Mismatch repair gene expression in malignant lymphoproliferative disorders of B-cell origin". Leuk. Lymphoma. 43 (2): 393–9. doi:10.1080/10428190290006215. PMID 11999575. S2CID 19755282.
Plotz G, Raedle J, Brieger A, Trojan J, Zeuzem S (2003). "N-terminus of hMLH1 confers interaction of hMutLα and hMutLβ with hMutSα". Nucleic Acids Res. 31 (12): 3217–26. doi:10.1093/nar/gkg420. PMC 162253. PMID 12799449.
Luo Y, Lin FT, Lin WC (2004). "ATM-Mediated Stabilization of hMutL DNA Mismatch Repair Proteins Augments p53 Activation during DNA Damage". Mol. Cell. Biol. 24 (14): 6430–44. doi:10.1128/MCB.24.14.6430-6444.2004. PMC 434232. PMID 15226443.
Okada T, Noji S, Goto Y, Iwata T, Fujita T, Okada T, Matsuzaki Y, Kuwana M, Hirakata M, Horii A, Matsuno S, Sunamura M, Kawakami Y (2005). "Immune responses to DNA mismatch repair enzymes hMSH2 and hPMS1 in patients with pancreatic cancer, dermatomyositis and polymyositis". Int. J. Cancer. 116 (6): 925–33. doi:10.1002/ijc.21118. PMID 15856462. S2CID 880049.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Cannavo E, Gerrits B, Marra G, Schlapbach R, Jiricny J (2007). "Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2". J. Biol. Chem. 282 (5): 2976–86. doi:10.1074/jbc.M609989200. PMID 17148452. S2CID 25279332.