LOCUS       NM_000534               3156 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens PMS1 homolog 1, mismatch repair system component
            (PMS1), transcript variant 1, mRNA.
ACCESSION   NM_000534
VERSION     NM_000534.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3156)
  AUTHORS   Landry,K.K., Seward,D.J., Dragon,J.A., Slavik,M., Xu,K.,
            McKinnon,W.C., Colello,L., Sweasy,J., Wallace,S.S., Cuke,M. and
            Wood,M.E.
  TITLE     Investigation of discordant sibling pairs from hereditary breast
            cancer families and analysis of a rare PMS1 variant
  JOURNAL   Cancer Genet 260-261, 30-36 (2022)
   PUBMED   34852986
  REMARK    GeneRIF: Investigation of discordant sibling pairs from hereditary
            breast cancer families and analysis of a rare PMS1 variant.
REFERENCE   2  (bases 1 to 3156)
  AUTHORS   Graur,F., Puia,A., Mois,E., Pop,P., Berar,M., Elisei,R.,
            Zaharie,F., Nechita,V., Rusu,I., Buiga,R., Puia,C. and Al Hajjar,N.
  TITLE     Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations
            with clinical data in rectal mucinous adenocarcinoma
  JOURNAL   Ann Ital Chir 93, 188-194 (2022)
   PUBMED   34807001
  REMARK    GeneRIF: Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their
            correlations with clinical data in rectal mucinous adenocarcinoma.
REFERENCE   3  (bases 1 to 3156)
  AUTHORS   Kim,M., Park,J., Bouhaddou,M., Kim,K., Rojc,A., Modak,M.,
            Soucheray,M., McGregor,M.J., O'Leary,P., Wolf,D., Stevenson,E.,
            Foo,T.K., Mitchell,D., Herrington,K.A., Munoz,D.P., Tutuncuoglu,B.,
            Chen,K.H., Zheng,F., Kreisberg,J.F., Diolaiti,M.E., Gordan,J.D.,
            Coppe,J.P., Swaney,D.L., Xia,B., van 't Veer,L., Ashworth,A.,
            Ideker,T. and Krogan,N.J.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   4  (bases 1 to 3156)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 3156)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 3156)
  AUTHORS   Kolodner,R.
  TITLE     Biochemistry and genetics of eukaryotic mismatch repair
  JOURNAL   Genes Dev 10 (12), 1433-1442 (1996)
   PUBMED   8666228
  REMARK    Review article
REFERENCE   7  (bases 1 to 3156)
  AUTHORS   Horii,A., Han,H.J., Sasaki,S., Shimada,M. and Nakamura,Y.
  TITLE     Cloning, characterization and chromosomal assignment of the human
            genes homologous to yeast PMS1, a member of mismatch repair genes
  JOURNAL   Biochem Biophys Res Commun 204 (3), 1257-1264 (1994)
   PUBMED   7980603
REFERENCE   8  (bases 1 to 3156)
  AUTHORS   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.
  TITLE     Mutations of two PMS homologues in hereditary nonpolyposis colon
            cancer
  JOURNAL   Nature 371 (6492), 75-80 (1994)
   PUBMED   8072530
REFERENCE   9  (bases 1 to 3156)
  AUTHORS   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.
  TITLE     Mutation of a mutL homolog in hereditary colon cancer
  JOURNAL   Science 263 (5153), 1625-1629 (1994)
   PUBMED   8128251
REFERENCE   10 (bases 1 to 3156)
  AUTHORS   Idos,G. and Valle,L.
  TITLE     Lynch Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301390
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC347859.1, BC096330.1,
            BC096332.1 and BM677668.1.
            
            On Dec 4, 2019 this sequence version replaced NM_000534.4.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC096330.1, SRR14038193.3056086.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000441310.7/ ENSP00000406490.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-94                DC347859.1         366-459
            95-1432             BC096330.1         1-1338
            1433-2924           BC096332.1         1339-2830
            2925-3156           BM677668.1         18-249              c
FEATURES             Location/Qualifiers
     source          1..3156
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..3156
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="PMS1 homolog 1, mismatch repair system component"
                     /db_xref="GeneID:5378"
                     /db_xref="HGNC:HGNC:9121"
                     /db_xref="MIM:600258"
     exon            1..144
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            145..296
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             165..2963
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="isoform a is encoded by transcript variant 1; human
                     homolog of yeast mutL; PMS1 postmeiotic segregation
                     increased 1; PMS1 protein homolog 1; mismatch repair gene
                     PMSL1; rhabdomyosarcoma antigen MU-RMS-40.10B;
                     rhabdomyosarcoma antigen MU-RMS-40.10E; DNA mismatch
                     repair protein PMS1"
                     /codon_start=1
                     /product="PMS1 protein homolog 1 isoform a"
                     /protein_id="NP_000525.1"
                     /db_xref="CCDS:CCDS2302.1"
                     /db_xref="GeneID:5378"
                     /db_xref="HGNC:HGNC:9121"
                     /db_xref="MIM:600258"
                     /translation="MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKL
                     ENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTYGFRGEALGSICC
                     IAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYS
                     TAKKCKDEIKKIQDLLMSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAV
                     MNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLI
                     RHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMT
                     TCYGPLPSTNSYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQN
                     DMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQ
                     TEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSV
                     GENIEPVKILVPEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLL
                     SNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKA
                     TKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELL
                     QSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTS
                     KTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTAD
                     DQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNA
                     ILNRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDIIYRMKHQFGNEIKE
                     CVHGRPFFHHLTYLPETT"
     exon            297..479
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            480..582
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            583..746
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            747..863
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            864..986
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1130
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..2020
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2021..2506
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2507..2637
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2638..2798
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2799..3156
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3134..3139
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="hexamer: AATAAA"
     polyA_site      3156
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="major polyA site"
ORIGIN      
        1 agtgccgcgc tctctgcacc cgctctgccg cgcgcgtgcg tgctgggtgc gggtgcgggt
       61 gcggggttgg gcctgcgcat cgggtgagac gctggctgct tgcggctagt ggatggtaat
      121 tgcctgcctc gcgctagcag gaagctgctc tgttaaaagc gaaaatgaaa caattgcctg
      181 cggcaacagt tcgactcctt tcaagttctc agatcatcac ttcggtggtc agtgttgtaa
      241 aagagcttat tgaaaactcc ttggatgctg gtgccacaag cgtagatgtt aaactggaga
      301 actatggatt tgataaaatt gaggtgcgag ataacgggga gggtatcaag gctgttgatg
      361 cacctgtaat ggcaatgaag tactacacct caaaaataaa tagtcatgaa gatcttgaaa
      421 atttgacaac ttacggtttt cgtggagaag ccttggggtc aatttgttgt atagctgagg
      481 ttttaattac aacaagaacg gctgctgata attttagcac ccagtatgtt ttagatggca
      541 gtggccacat actttctcag aaaccttcac atcttggtca aggtacaact gtaactgctt
      601 taagattatt taagaatcta cctgtaagaa agcagtttta ctcaactgca aaaaaatgta
      661 aagatgaaat aaaaaagatc caagatctcc tcatgagctt tggtatcctt aaacctgact
      721 taaggattgt ctttgtacat aacaaggcag ttatttggca gaaaagcaga gtatcagatc
      781 acaagatggc tctcatgtca gttctgggga ctgctgttat gaacaatatg gaatcctttc
      841 agtaccactc tgaagaatct cagatttatc tcagtggatt tcttccaaag tgtgatgcag
      901 accactcttt cactagtctt tcaacaccag aaagaagttt catcttcata aacagtcgac
      961 cagtacatca aaaagatatc ttaaagttaa tccgacatca ttacaatctg aaatgcctaa
     1021 aggaatctac tcgtttgtat cctgttttct ttctgaaaat cgatgttcct acagctgatg
     1081 ttgatgtaaa tttaacacca gataaaagcc aagtattatt acaaaataag gaatctgttt
     1141 taattgctct tgaaaatctg atgacgactt gttatggacc attacctagt acaaattctt
     1201 atgaaaataa taaaacagat gtttccgcag ctgacatcgt tcttagtaaa acagcagaaa
     1261 cagatgtgct ttttaataaa gtggaatcat ctggaaagaa ttattcaaat gttgatactt
     1321 cagtcattcc attccaaaat gatatgcata atgatgaatc tggaaaaaac actgatgatt
     1381 gtttaaatca ccagataagt attggtgact ttggttatgg tcattgtagt agtgaaattt
     1441 ctaacattga taaaaacact aagaatgcat ttcaggacat ttcaatgagt aatgtatcat
     1501 gggagaactc tcagacggaa tatagtaaaa cttgttttat aagttccgtt aagcacaccc
     1561 agtcagaaaa tggcaataaa gaccatatag atgagagtgg ggaaaatgag gaagaagcag
     1621 gtcttgaaaa ctcttcggaa atttctgcag atgagtggag caggggaaat atacttaaaa
     1681 attcagtggg agagaatatt gaacctgtga aaattttagt gcctgaaaaa agtttaccat
     1741 gtaaagtaag taataataat tatccaatcc ctgaacaaat gaatcttaat gaagattcat
     1801 gtaacaaaaa atcaaatgta atagataata aatctggaaa agttacagct tatgatttac
     1861 ttagcaatcg agtaatcaag aaacccatgt cagcaagtgc tctttttgtt caagatcatc
     1921 gtcctcagtt tctcatagaa aatcctaaga ctagtttaga ggatgcaaca ctacaaattg
     1981 aagaactgtg gaagacattg agtgaagagg aaaaactgaa atatgaagag aaggctacta
     2041 aagacttgga acgatacaat agtcaaatga agagagccat tgaacaggag tcacaaatgt
     2101 cactaaaaga tggcagaaaa aagataaaac ccaccagcgc atggaatttg gcccagaagc
     2161 acaagttaaa aacctcatta tctaatcaac caaaacttga tgaactcctt cagtcccaaa
     2221 ttgaaaaaag aaggagtcaa aatattaaaa tggtacagat ccccttttct atgaaaaact
     2281 taaaaataaa ttttaagaaa caaaacaaag ttgacttaga agagaaggat gaaccttgct
     2341 tgatccacaa tctcaggttt cctgatgcat ggctaatgac atccaaaaca gaggtaatgt
     2401 tattaaatcc atatagagta gaagaagccc tgctatttaa aagacttctt gagaatcata
     2461 aacttcctgc agagccactg gaaaagccaa ttatgttaac agagagtctt tttaatggat
     2521 ctcattattt agacgtttta tataaaatga cagcagatga ccaaagatac agtggatcaa
     2581 cttacctgtc tgatcctcgt cttacagcga atggtttcaa gataaaattg ataccaggag
     2641 tttcaattac tgaaaattac ttggaaatag aaggaatggc taattgtctc ccattctatg
     2701 gagtagcaga tttaaaagaa attcttaatg ctatattaaa cagaaatgca aaggaagttt
     2761 atgaatgtag acctcgcaaa gtgataagtt atttagaggg agaagcagtg cgtctatcca
     2821 gacaattacc catgtactta tcaaaagagg acatccaaga cattatctac agaatgaagc
     2881 accagtttgg aaatgaaatt aaagagtgtg ttcatggtcg cccatttttt catcatttaa
     2941 cctatcttcc agaaactaca tgattaaata tgtttaagaa gattagttac cattgaaatt
     3001 ggttctgtca taaaacagca tgagtctggt tttaaattat ctttgtatta tgtgtcacat
     3061 ggttattttt taaatgagga ttcactgact tgtttttata ttgaaaaaag ttccacgtat
     3121 tgtagaaaac gtaaataaac taatatagac tattca
//
