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Database:

Blast Method:

 
 


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

*Business Day

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RefSeq Version NM_000534.4, 189458892
Length 3538 bp
Structure linear
Update Date 03-MAY-2014
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)596..>832
Misc Feature(9)order(608..610,620..622,629..631,689..691,695..697,
Misc Feature(10)620..622
Misc Feature(11)order(701..703,707..709,809..811,815..817)
Misc Feature(12)1142..1543
Misc Feature(13)1469..1471
Misc Feature(14)2243..2437
Misc Feature(15)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
complement(74)-g, cdbSNP:11550049
137+a, gdbSNP:369675358
187+a, gdbSNP:5742928
194+c, tdbSNP:372712876
228+c, tdbSNP:5742929
250+a, cdbSNP:5742930
255+c, tdbSNP:5742931
374+a, gdbSNP:147002700
386+a, cdbSNP:375594683
430+g, tdbSNP:5742932
446+c, gdbSNP:374103918
506+c, gdbSNP:5742933
538+a, gdbSNP:373031044
540+c, tdbSNP:201944922
558+a, gdbSNP:370084230
563+c, tdbSNP:374261058
574+a, tdbSNP:377616727
578+a, gdbSNP:151231718
608+c, gdbSNP:5742973
644+a, gdbSNP:113193813
670+dbSNP:
670+c, tdbSNP:5742980
681+a, cdbSNP:370668897
692+c, tdbSNP:375147123
696+a, gdbSNP:377024581
703+g, tdbSNP:143323454
704+a, gdbSNP:143265397
753+c, tdbSNP:61756360
754+c, gdbSNP:201065617
772+c, tdbSNP:150543935
799+c, tdbSNP:149723996
800+a, gdbSNP:370300640
816+a, cdbSNP:139414606
839+a, gdbSNP:200395679
856+dbSNP:
856+a, gdbSNP:146515816
858+c, gdbSNP:372752293
874+c, tdbSNP:2066457
958+dbSNP:
958+a, gdbSNP:150245286
961+c, tdbSNP:370516860
969+a, gdbSNP:113137368
1003+a, tdbSNP:369474547
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
complement(1265)-t, gdbSNP:75465207
1343+a, gdbSNP:375164425
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
1573..1576+a, taatdbSNP:386653706
1592+a, gdbSNP:141084536
1604+a, gdbSNP:369839744
1647+c, tdbSNP:199659366
1655..1656+, cdbSNP:34800695
1710+c, tdbSNP:1145231
1713+a, gdbSNP:145375126
1791+g, tdbSNP:142577664
1808+a, gdbSNP:373271688
1827+a, cdbSNP:148690800
1840+a, c, gdbSNP:55726197
1857+a, gdbSNP:200407029
1858+c, tdbSNP:189863121
1859+g, tdbSNP:369312075
1862+c, tdbSNP:373224158
1878+a, gdbSNP:56305733
1881+c, tdbSNP:181493700
1936+a, tdbSNP:144599126
1953+c, tdbSNP:371392948
2016+a, gdbSNP:375640863
2030+a, gdbSNP:1145232
2069+c, gdbSNP:368282144
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
2431+a, gdbSNP:371000056
2549+a, cdbSNP:374303819
2589+a, tdbSNP:377266054
2606+a, gdbSNP:113616678
2607+a, tdbSNP:369814333
2628+c, tdbSNP:370578519
2635+a, tdbSNP:374605857
2689+c, gdbSNP:2066455
2696+a, gdbSNP:61736573
2715+a, gdbSNP:201205478
2736+a, gdbSNP:368630253
2754+c, tdbSNP:201778750
2812+c, tdbSNP:150341545
2819+a, cdbSNP:375553851
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
2963+c, tdbSNP:371745827
2964+g, tdbSNP:375020232
2969+a, gdbSNP:200172149
2970+c, gdbSNP:369226504
2973+c, tdbSNP:139826569
3047+dbSNP:
3047+a, gdbSNP:369909997
3069+c, tdbSNP:199892342
3084+a, cdbSNP:145521752
3093+a, cdbSNP:56309301
3140+c, tdbSNP:143554211
3173+dbSNP:
3173+a, gdbSNP:374222815
3176+c, tdbSNP:142159998
3177+a, gdbSNP:377603311
3190+a, gdbSNP:61748257
3191+c, tdbSNP:370611400
3194+c, gdbSNP:374879205
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_001128144 Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 3, 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_001289409 Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 5, mRNA. On-demand $849.00 20
NM_001289408 Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 4, mRNA. On-demand $849.00 20
NM_000534 Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA. On-demand $899.00 20
XM_005246647 PREDICTED: Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant X1, mRNA. On-demand $899.00 20
XM_005246649 PREDICTED: Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant X3, mRNA. On-demand $899.00 20
XM_006712596 PREDICTED: Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant X4, mRNA. On-demand $849.00 20
Title The mismatch repair gene hPMS1 (human postmeiotic segregation1) is down regulated in oral squamous cell carcinoma .
Author Wang Y, Zhou X, Song Y, Ji X, Zhang A, Zhang G and Gao Z.
Journal Gene 524 (1), 28-34 (2013)
Title Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population .
Author Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and Butte NF.
Journal PLoS ONE 7 (12), E51954 (2012)
Title Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women .
Author Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman K, Johnson AD, Foster MC, Greenawalt DM, Griffin P, Ding J, Newman AB, Tylavsky F, Miljkovic I, Kritchevsky SB, Launer L, Garcia M, Eiriksdottir G, Carr JJ, Gudnason V, Harris TB, Cupples LA and Borecki IB.
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 GM, Kraft P, Chanock SJ, Hunter DJ 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 KW, Jin HS, Lim JE, Kim S, Go MJ and Oh B.
Journal J. Hum. Genet. 55 (6), 336-341 (2010)
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 HJ, 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 NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD and Fraser CM.
Journal Nature 371 (6492), 75-80 (1994)
Title Mutation of a mutL homolog in hereditary colon cancer .
Author Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM and Adams MD.
Journal Science 263 (5153), 1625-1629 (1994)
Title Lynch Syndrome .
Author Kohlmann,W. and Gruber,S.B.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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