LOCUS       NM_001321048            3253 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens PMS1 homolog 1, mismatch repair system component
            (PMS1), transcript variant 9, mRNA.
ACCESSION   NM_001321048 XM_011511354
VERSION     NM_001321048.2
KEYWORDS    RefSeq.
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 3253)
  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 3253)
  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 3253)
  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 3253)
  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 3253)
  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 3253)
  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 3253)
  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 3253)
  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 3253)
  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 3253)
  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, DA206770.1,
            BC096332.1, AK316215.1 and BM677668.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001321048.1.
            
            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 :: SRR1803617.233976.1,
                                           SRR1660805.168623.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119, SAMEA2153307
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                DC347859.1         366-404
            40-627              DA206770.1         1-588
            628-3021            BC096332.1         437-2830
            3022-3157           AK316215.1         2524-2659
            3158-3253           BM677668.1         18-113              c
FEATURES             Location/Qualifiers
     source          1..3253
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..3253
                     /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..115
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            116..241
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            242..393
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             262..3060
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="isoform a is encoded by transcript variant 9; 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_001307977.1"
                     /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            394..576
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            577..679
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            680..843
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            844..960
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1083
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..1227
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1228..2117
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2118..2603
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2604..2734
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2735..2895
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2896..3253
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3231..3236
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="hexamer: AATAAA"
     polyA_site      3253
                     /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 ggatggcaca
      121 cctgttgtcc ttaactgact ttccgggtca tcagcacttc ttcagaagtg ttccttttcc
      181 ctcccagcaa atatggaaga ctgactatcc tgatattccc agacattctt tgctgtgatt
      241 tctgctctgt taaaagcgaa aatgaaacaa ttgcctgcgg caacagttcg actcctttca
      301 agttctcaga tcatcacttc ggtggtcagt gttgtaaaag agcttattga aaactccttg
      361 gatgctggtg ccacaagcgt agatgttaaa ctggagaact atggatttga taaaattgag
      421 gtgcgagata acggggaggg tatcaaggct gttgatgcac ctgtaatggc aatgaagtac
      481 tacacctcaa aaataaatag tcatgaagat cttgaaaatt tgacaactta cggttttcgt
      541 ggagaagcct tggggtcaat ttgttgtata gctgaggttt taattacaac aagaacggct
      601 gctgataatt ttagcaccca gtatgtttta gatggcagtg gccacatact ttctcagaaa
      661 ccttcacatc ttggtcaagg tacaactgta actgctttaa gattatttaa gaatctacct
      721 gtaagaaagc agttttactc aactgcaaaa aaatgtaaag atgaaataaa aaagatccaa
      781 gatctcctca tgagctttgg tatccttaaa cctgacttaa ggattgtctt tgtacataac
      841 aaggcagtta tttggcagaa aagcagagta tcagatcaca agatggctct catgtcagtt
      901 ctggggactg ctgttatgaa caatatggaa tcctttcagt accactctga agaatctcag
      961 atttatctca gtggatttct tccaaagtgt gatgcagacc actctttcac tagtctttca
     1021 acaccagaaa gaagtttcat cttcataaac agtcgaccag tacatcaaaa agatatctta
     1081 aagttaatcc gacatcatta caatctgaaa tgcctaaagg aatctactcg tttgtatcct
     1141 gttttctttc tgaaaatcga tgttcctaca gctgatgttg atgtaaattt aacaccagat
     1201 aaaagccaag tattattaca aaataaggaa tctgttttaa ttgctcttga aaatctgatg
     1261 acgacttgtt atggaccatt acctagtaca aattcttatg aaaataataa aacagatgtt
     1321 tccgcagctg acatcgttct tagtaaaaca gcagaaacag atgtgctttt taataaagtg
     1381 gaatcatctg gaaagaatta ttcaaatgtt gatacttcag tcattccatt ccaaaatgat
     1441 atgcataatg atgaatctgg aaaaaacact gatgattgtt taaatcacca gataagtatt
     1501 ggtgactttg gttatggtca ttgtagtagt gaaatttcta acattgataa aaacactaag
     1561 aatgcatttc aggacatttc aatgagtaat gtatcatggg agaactctca gacggaatat
     1621 agtaaaactt gttttataag ttccgttaag cacacccagt cagaaaatgg caataaagac
     1681 catatagatg agagtgggga aaatgaggaa gaagcaggtc ttgaaaactc ttcggaaatt
     1741 tctgcagatg agtggagcag gggaaatata cttaaaaatt cagtgggaga gaatattgaa
     1801 cctgtgaaaa ttttagtgcc tgaaaaaagt ttaccatgta aagtaagtaa taataattat
     1861 ccaatccctg aacaaatgaa tcttaatgaa gattcatgta acaaaaaatc aaatgtaata
     1921 gataataaat ctggaaaagt tacagcttat gatttactta gcaatcgagt aatcaagaaa
     1981 cccatgtcag caagtgctct ttttgttcaa gatcatcgtc ctcagtttct catagaaaat
     2041 cctaagacta gtttagagga tgcaacacta caaattgaag aactgtggaa gacattgagt
     2101 gaagaggaaa aactgaaata tgaagagaag gctactaaag acttggaacg atacaatagt
     2161 caaatgaaga gagccattga acaggagtca caaatgtcac taaaagatgg cagaaaaaag
     2221 ataaaaccca ccagcgcatg gaatttggcc cagaagcaca agttaaaaac ctcattatct
     2281 aatcaaccaa aacttgatga actccttcag tcccaaattg aaaaaagaag gagtcaaaat
     2341 attaaaatgg tacagatccc cttttctatg aaaaacttaa aaataaattt taagaaacaa
     2401 aacaaagttg acttagaaga gaaggatgaa ccttgcttga tccacaatct caggtttcct
     2461 gatgcatggc taatgacatc caaaacagag gtaatgttat taaatccata tagagtagaa
     2521 gaagccctgc tatttaaaag acttcttgag aatcataaac ttcctgcaga gccactggaa
     2581 aagccaatta tgttaacaga gagtcttttt aatggatctc attatttaga cgttttatat
     2641 aaaatgacag cagatgacca aagatacagt ggatcaactt acctgtctga tcctcgtctt
     2701 acagcgaatg gtttcaagat aaaattgata ccaggagttt caattactga aaattacttg
     2761 gaaatagaag gaatggctaa ttgtctccca ttctatggag tagcagattt aaaagaaatt
     2821 cttaatgcta tattaaacag aaatgcaaag gaagtttatg aatgtagacc tcgcaaagtg
     2881 ataagttatt tagagggaga agcagtgcgt ctatccagac aattacccat gtacttatca
     2941 aaagaggaca tccaagacat tatctacaga atgaagcacc agtttggaaa tgaaattaaa
     3001 gagtgtgttc atggtcgccc attttttcat catttaacct atcttccaga aactacatga
     3061 ttaaatatgt ttaagaagat tagttaccat tgaaattggt tctgtcataa aacagcatga
     3121 gtctggtttt aaattatctt tgtattatgt gtcacatggt tattttttaa atgaggattc
     3181 actgacttgt ttttatattg aaaaaagttc cacgtattgt agaaaacgta aataaactaa
     3241 tatagactat tca
//
