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Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000534 Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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RefSeq Version NM_000534.4, 189458892
Length 3538 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.
Product PMS1 protein homolog 1 isoform a
Comment

Summary: This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

RefSeq NP_000525.1
CDS 530..3328
Misc Feature(1)366
Misc Feature(2)401
Misc Feature(3)412
Misc Feature(4)476
Misc Feature(5)500..502
Misc Feature(6)530..1483
Misc Feature(7)530..1483
Misc Feature(8)608..>901
Misc Feature(9)1142..1543
Misc Feature(10)1469..1471
Misc Feature(11)2243..2437
Misc Feature(12)order(2246..2248,2252..2257,2261..2266,2273..2278,
Exon (1)1..509
Gene:PMS1
Gene Synonym:HNPCC3; hPMS1; PMSL1
Exon (2)510..661
Gene:PMS1
Gene Synonym:HNPCC3; hPMS1; PMSL1
Exon (3)662..844
Gene:PMS1
Gene Synonym:HNPCC3; hPMS1; PMSL1
Exon (4)845..947
Gene:PMS1
Gene Synonym:HNPCC3; hPMS1; PMSL1
Exon (5)948..1111
Gene:PMS1
Gene Synonym:HNPCC3; hPMS1; PMSL1
Exon (6)1112..1228
Gene:PMS1
Gene Synonym:HNPCC3; hPMS1; PMSL1
Exon (7)1229..1351
Gene:PMS1
Gene Synonym:HNPCC3; hPMS1; PMSL1
Exon (8)1352..1495
Gene:PMS1
Gene Synonym:HNPCC3; hPMS1; PMSL1
Exon (9)1496..2385
Gene:PMS1
Gene Synonym:HNPCC3; hPMS1; PMSL1
Exon (10)2386..2871
Gene:PMS1
Gene Synonym:HNPCC3; hPMS1; PMSL1
Exon (11)2872..3002
Gene:PMS1
Gene Synonym:HNPCC3; hPMS1; PMSL1
Exon (12)3003..3163
Gene:PMS1
Gene Synonym:HNPCC3; hPMS1; PMSL1
Exon (13)3164..3521
Gene:PMS1
Gene Synonym:HNPCC3; hPMS1; PMSL1
Translation MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEG IKAVDAPVMAMKYYTSKINSHEDLENLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQ YVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDLLMSFG ILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFL PKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKID VPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVL SKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGH CSSEISNIDKNTKNAFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGE NEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMN LNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLED ATLQIEELWKTLSEEEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAW NLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEE KDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTE SLFNGSHYLDVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMAN CLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDI IYRMKHQFGNEIKECVHGRPFFHHLTYLPETT
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Position Chain Variation Link
20+dbSNP:
20+a, gdbSNP:189547607
49+a, gdbSNP:5742927
74+c, gdbSNP:11550049
187+a, gdbSNP:5742928
228+c, tdbSNP:5742929
250+a, cdbSNP:5742930
255+c, tdbSNP:5742931
374+a, gdbSNP:147002700
430+g, tdbSNP:5742932
506+c, gdbSNP:5742933
540+c, tdbSNP:201944922
578+a, gdbSNP:151231718
608+c, gdbSNP:5742973
644+a, gdbSNP:113193813
670+dbSNP:
670+c, tdbSNP:5742980
703+g, tdbSNP:143323454
704+a, gdbSNP:143265397
753+c, tdbSNP:61756360
754+c, gdbSNP:201065617
772+c, tdbSNP:150543935
799+c, tdbSNP:149723996
816+a, cdbSNP:139414606
839+a, gdbSNP:200395679
856+dbSNP:
856+a, gdbSNP:146515816
874+c, tdbSNP:2066457
958+dbSNP:
958+a, gdbSNP:150245286
969+a, gdbSNP:113137368
1029+a, gdbSNP:200244068
1084+c, tdbSNP:73979090
1119+dbSNP:
1119+a, tdbSNP:185306467
1123+g, tdbSNP:143010673
1132+c, tdbSNP:141178436
1134+a, gdbSNP:2066459
1226+c, tdbSNP:121434628
1255+dbSNP:
1255+a, gdbSNP:56144843
1265+g, tdbSNP:75465207
1398+dbSNP:
1398+a, gdbSNP:183717609
1418+c, gdbSNP:146040262
1426+c, tdbSNP:149988991
1469+a, gdbSNP:148745528
1491+a, gdbSNP:147901996
1492+c, tdbSNP:202008207
1530+dbSNP:
1530+c, tdbSNP:147084726
1592+a, gdbSNP:141084536
1647+c, tdbSNP:199659366
1655..1656+, cdbSNP:34800695
1710+c, tdbSNP:1145231
1713+a, gdbSNP:145375126
1791+g, tdbSNP:142577664
1827+a, cdbSNP:148690800
1840+a, c, gdbSNP:55726197
1857+a, gdbSNP:200407029
1858+c, tdbSNP:189863121
1878+a, gdbSNP:56305733
1881+c, tdbSNP:181493700
1936+a, tdbSNP:144599126
2030+a, gdbSNP:1145232
2115+a, gdbSNP:56064816
2135+c, tdbSNP:201236867
2138+a, gdbSNP:151325573
2152+g, tdbSNP:113372387
2172+a, gdbSNP:61736576
2213+g, tdbSNP:189785572
2225+c, gdbSNP:140854388
2234+c, tdbSNP:201194903
2235+a, gdbSNP:138610933
2273+a, gdbSNP:74512161
2320+g, tdbSNP:139552807
2330+a, gdbSNP:147450758
2382+g, tdbSNP:145406444
2417+dbSNP:
2417+c, tdbSNP:139932286
2424+a, gdbSNP:2066456
2606+a, gdbSNP:113616678
2689+c, gdbSNP:2066455
2696+a, gdbSNP:61736573
2715+a, gdbSNP:201205478
2754+c, tdbSNP:201778750
2758+g, tdbSNP:140788320
2759+g, tdbSNP:148214055
2812+c, tdbSNP:150341545
2828+c, gdbSNP:188947672
2840+a, cdbSNP:143686298
2867+a, gdbSNP:193252599
2870+a, gdbSNP:201984263
2880+dbSNP:
2880+a, gdbSNP:55680602
2887+c, tdbSNP:201324347
2906+c, tdbSNP:1145234
2929+a, gdbSNP:150865251
2946+c, gdbSNP:55859858
2949+a, tdbSNP:200919195
2969+a, gdbSNP:200172149
2973+c, tdbSNP:139826569
3069+dbSNP:
3069+c, tdbSNP:199892342
3084+a, cdbSNP:145521752
3093+a, cdbSNP:56309301
3140+c, tdbSNP:143554211
3176+dbSNP:
3176+c, tdbSNP:142159998
3190+a, gdbSNP:61748257
3284+c, tdbSNP:145103030
3285+a, gdbSNP:147566508
3305+a, gdbSNP:138906915
3309+a, gdbSNP:111254723
3338+a, tdbSNP:5743199
3466+c, tdbSNP:112239654
Gene SymbolPMS1
Gene SynonymHNPCC3; hPMS1; PMSL1
Chromosome2
Locus Map2q31.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000534 Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA. On-demand $899.00 20
NM_001128143 Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 2, mRNA. On-demand $899.00 20
NM_001128144 Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 3, mRNA. On-demand $899.00 20
Title Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women .
Author Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V., Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C., Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F., Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M., Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A. and Borecki,I.B.
Journal PLoS Genet. 8 (5), E1002695 (2012)
Title Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk .
Author Monsees,G.M., Kraft,P., Chanock,S.J., Hunter,D.J. and Han,J.
Journal Breast Cancer Res. Treat. 125 (1), 207-214 (2011)
Title Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population .
Author Hong,K.W., Jin,H.S., Lim,J.E., Kim,S., Go,M.J. and Oh,B.
Journal J. Hum. Genet. 55 (6), 336-341 (2010)
Title Genetic susceptibility to distinct bladder cancer subphenotypes .
Author Guey,L.T., Garcia-Closas,M., Murta-Nascimento,C., Lloreta,J., Palencia,L., Kogevinas,M., Rothman,N., Vellalta,G., Calle,M.L., Marenne,G., Tardon,A., Carrato,A., Garcia-Closas,R., Serra,C., Silverman,D.T., Chanock,S., Real,F.X. and Malats,N.
Journal Eur. Urol. 57 (2), 283-292 (2010)
Title PTEN identified as important risk factor of chronic obstructive pulmonary disease .
Author Hosgood,H.D. III, Menashe,I., He,X., Chanock,S. and Lan,Q.
Journal Respir Med 103 (12), 1866-1870 (2009)
Title Isolation and characterization of the 5' region of the human mismatch repair gene hPMS1 .
Author Yanagisawa,Y., Ito,E., Iwahashi,Y., Akiyama,Y., Yuasa,Y. and Maruyama,K.
Journal Biochem. Biophys. Res. Commun. 243 (3), 738-743 (1998)
Title Biochemistry and genetics of eukaryotic mismatch repair .
Author Kolodner,R.
Journal Genes Dev. 10 (12), 1433-1442 (1996)
Title Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes .
Author Horii,A., Han,H.J., Sasaki,S., Shimada,M. and Nakamura,Y.
Journal Biochem. Biophys. Res. Commun. 204 (3), 1257-1264 (1994)
Title Mutations of two PMS homologues in hereditary nonpolyposis colon cancer .
Author Nicolaides,N.C., Papadopoulos,N., Liu,B., Wei,Y.F., Carter,K.C., Ruben,S.M., Rosen,C.A., Haseltine,W.A., Fleischmann,R.D., Fraser,C.M. et al.
Journal Nature 371 (6492), 75-80 (1994)
Title Mutation of a mutL homolog in hereditary colon cancer .
Author Papadopoulos,N., Nicolaides,N.C., Wei,Y.F., Ruben,S.M., Carter,K.C., Rosen,C.A., Haseltine,W.A., Fleischmann,R.D., Fraser,C.M., Adams,M.D. et al.
Journal Science 263 (5153), 1625-1629 (1994)


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