PMS1 (PMS1 postmeiotic segregation increased 1 (S. cerevisiae))

Identity

Other names	HNPCC3
	PMSL1
HGNC	PMS1
Location	2q31-33

DNA/RNA

	Diagram of the PMS1 gene. Exons are represented by boxes (in scale) transcribed and untranscribed sequences in blue and yellow, with exon numbers on top and number of base pairs at the bottom. Introns are represented by black bars (not in scale) and the number of base pairs indicated. The arrows show the ATG and the stop codons respectively.
Description	The PMS1 gene is composed of 13 exons spanning in a region of 93056 bp.
Transcription	The transcribed mRNA has 3032 bp

Protein

Description	Amino acids: 932. Molecular Weight: 105830 Daltons. PMS1 is a protein involved in the mismatch repair process after DNA replication.
Function	PMS1 binds to MLH1 to form a heterodimer, although MLH1 can also bind to PMS2 or MLH3. Although MLH1/PMS2 binds to the heteroduplexes MutSa (composed of MSH2 and MSH6) or MutSß (composed of MSH2 and MSH3), which recognize DNA lesions, it remains to be demonstrated the involvement of the MLH1/PMS1 heterodimer in the mismatch repair process, despite that the heterodimer MLH1/PMS2 is responsible for the recruitment of the proteins needed for the excision and repair synthesis.
Homology	PMS1 is homologue to the bacterial MutL gene and to the Mlh2 gene in yeasts.

Mutations

Germinal

A truncating germline mutation of PMS1 was found in one HNPCC patient. Nevertheless, a MSH2 mutation was found in this family, which was the only one that co-segregated with colon cancer. In addition, no more HNPCC patients have been found with mutations in this gene, and PMS1 -/- mice show no discernible phenotype. So there is no evidence that PMS1 mutations predispose to HNPCC.

External links

	Nomenclature
HGNC	PMS1   9121
Entrez_Gene	PMS1  5378  PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
	Cards
Atlas	PMS1ID345ch2q31
GeneCards	PMS1
Ensembl	PMS1 [Search_View]   ENSG00000064933 [Gene_View]
Genatlas	PMS1
GeneLynx	PMS1
eGenome	PMS1
euGene	5378
	Genomic and cartography
GoldenPath	PMS1  -     chr2:190357056-190450600 +  2q31-q33|2q31.1   [Description]    (hg18-Mar_2006)
Ensembl	PMS1 - 2q31-q33|2q31.1 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	PMS1
	Gene and transcription
Genbank	AB102869 [ ENTREZ ]
Genbank	AB102870 [ ENTREZ ]
Genbank	AB102871 [ ENTREZ ]
Genbank	AB102872 [ ENTREZ ]
Genbank	AB102873 [ ENTREZ ]
RefSeq	NM_000534 [ SRS ]    NM_000534 [ ENTREZ ]
RefSeq	NM_001128143 [ SRS ]    NM_001128143 [ ENTREZ ]
RefSeq	NM_001128144 [ SRS ]    NM_001128144 [ ENTREZ ]
RefSeq	AC_000045 [ SRS ]    AC_000045 [ ENTREZ ]
RefSeq	AC_000134 [ SRS ]    AC_000134 [ ENTREZ ]
RefSeq	NC_000002 [ SRS ]    NC_000002 [ ENTREZ ]
RefSeq	NT_005403 [ SRS ]    NT_005403 [ ENTREZ ]
RefSeq	NW_001838863 [ SRS ]    NW_001838863 [ ENTREZ ]
RefSeq	NW_921585 [ SRS ]    NW_921585 [ ENTREZ ]
AceView	PMS1 AceView - NCBI
Unigene	Hs.111749 [ SRS ]    Hs.111749 [ NCBI ]     HS111749 [ spliceNest ]
Fast-db	13779 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P54277 [ SRS]    P54277 [ EXPASY ]     P54277 [ INTERPRO ]     P54277 [ UNIPROT ]
Prosite	PS00058 DNA_MISMATCH_REPAIR_1 [ SRS ]    PS00058 DNA_MISMATCH_REPAIR_1 [ Expasy ]
Prosite	PS50118 HMG_BOX_2 [ SRS ]    PS50118 HMG_BOX_2 [ Expasy ]
Interpro	IPR003594 ATP_bd_ATPase [ SRS ]    IPR003594 ATP_bd_ATPase [ EBI ]
Interpro	IPR002099 DNA_mismatch_repair [ SRS ]    IPR002099 DNA_mismatch_repair [ EBI ]
Interpro	IPR013507 DNA_mismatch_repair_C [ SRS ]    IPR013507 DNA_mismatch_repair_C [ EBI ]
Interpro	IPR014762 DNA_mismatch_repair_CS [ SRS ]    IPR014762 DNA_mismatch_repair_CS [ EBI ]
Interpro	IPR014763 DNA_mismatch_repair_N [ SRS ]    IPR014763 DNA_mismatch_repair_N [ EBI ]
Interpro	IPR000910 HMG_1/2_box [ SRS ]    IPR000910 HMG_1/2_box [ EBI ]
CluSTr	P54277
Pfam	PF01119 DNA_mis_repair [ SRS ]    PF01119 DNA_mis_repair [ Sanger ]    pfam01119 [ NCBI-CDD ]
Pfam	PF02518 HATPase_c [ SRS ]    PF02518 HATPase_c [ Sanger ]    pfam02518 [ NCBI-CDD ]
Pfam	PF00505 HMG_box [ SRS ]    PF00505 HMG_box [ Sanger ]    pfam00505 [ NCBI-CDD ]
Smart	SM00387 HATPase_c [EMBL]
Smart	SM00398 HMG [EMBL]
Blocks	P54277
PDB	2CS1 [ SRS ]    2CS1 [ PdbSum ],   2CS1 [ IMB ]   2CS1 [ RSDB ]
HPRD	02597
	Protein Interaction databases
DIP	P54277
IntAct	P54277
	Polymorphism : SNP, mutations, diseases
OMIM	600258    [ map ]
GENECLINICS	600258
SNP	PMS1 [dbSNP-NCBI]
SNP	NM_000534 [SNP-NCI]
SNP	NM_001128143 [SNP-NCI]
SNP	NM_001128144 [SNP-NCI]
SNP	PMS1 [GeneSNPs - Utah]  PMS1] [HGBASE - SRS]
HAPMAP	PMS1 [HAPMAP]
COSMIC	PMS1 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	PMS1
	General knowledge
Family Browser	PMS1 [UCSC Family Browser]
SOURCE	NM_000534
SOURCE	NM_001128143
SOURCE	NM_001128144
SMD	Hs.111749
SAGE	Hs.111749
GO	DNA binding [Amigo]  DNA binding
GO	DNA binding [Amigo]  DNA binding
GO	ATP binding [Amigo]  ATP binding
GO	GTP binding [Amigo]  GTP binding
GO	nucleus [Amigo]  nucleus
GO	mismatch repair [Amigo]  mismatch repair
GO	mismatch repair [Amigo]  mismatch repair
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	mismatched DNA binding [Amigo]  mismatched DNA binding
GO	negative regulation of cell cycle [Amigo]  negative regulation of cell cycle
PubGene	PMS1
TreeFam	PMS1
CTD	5378 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	PMS1 Related clones (RZPD - Berlin)
	PubMed
PubMed	24 Pubmed reference(s) in LocusLink

Bibliography

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

Nature. 1994 ; 371 (6492) : 75-80.

PMID 8072530

Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair.

Prolla TA, Baker SM, Harris AC, Tsao JL, Yao X, Bronner CE, Zheng B, Gordon M, Reneker J, Arnheim N, Shibata D, Bradley A, Liskay RM

Nature genetics. 1998 ; 18 (3) : 276-279.

PMID 9500552

Isolation and characterization of the 5' region of the human mismatch repair gene hPMS1.

Yanagisawa Y, Ito E, Iwahashi Y, Akiyama Y, Yuasa Y, Maruyama K

Biochemical and biophysical research communications. 1998 ; 243 (3) : 738-743.

PMID 9500994

Identification of hMutLbeta, a heterodimer of hMLH1 and hPMS1.

Rˆ§schle M, Marra G, Nystrˆm-Lahti M, Schˆ§r P, Jiricny J

The Journal of biological chemistry. 1999 ; 274 (45) : 32368-32375.

PMID 10542278

The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.

Kondo E, Horii A, Fukushige S

Nucleic acids research. 2001 ; 29 (8) : 1695-1702.

PMID 11292842

The role of hPMS1 and hPMS2 in predisposing to colorectal cancer.

Liu T, Yan H, Kuismanen S, Percesepe A, Bisgaard ML, Pedroni M, Benatti P, Kinzler KW, Vogelstein B, Ponz de Leon M, Peltomˆ§ki P, Lindblom A

Cancer research. 2001 ; 61 (21) : 7798-7802.

PMID 11691795

DNA mismatch repair defects: role in colorectal carcinogenesis.

Jacob S, Praz F

Biochimie. 2002 ; 84 (1) : 27-47.

PMID 11900875

Lynch syndrome genes.

Peltomˆ§ki P

Familial cancer. 2005 ; 4 (3) : 227-232.

PMID 16136382

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Last year publications	automatic search in PubMed

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Contributor(s)

Written	12-2005	Enric Domingo, Simo Schwartz Jr

Citation

This paper should be referenced as such :

Domingo E, Schwartz S Jr . PMS1 (PMS1 postmeiotic segregation increased 1 (S. cerevisiae)). Atlas Genet Cytogenet Oncol Haematol. December 2005 . URL : http://AtlasGeneticsOncology.org/Genes/PMS1ID345ch2q31.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:16:30 2008