LOCUS       NM_001321046            2973 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens PMS1 homolog 1, mismatch repair system component
            (PMS1), transcript variant 10, mRNA.
ACCESSION   NM_001321046 XM_011511355
VERSION     NM_001321046.2
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 2973)
  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 2973)
  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 2973)
  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 2973)
  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 2973)
  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 2973)
  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 2973)
  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 2973)
  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 2973)
  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 2973)
  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, DC360786.1,
            BC096332.1, AK316215.1 and BM677668.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001321046.1.
            
            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 :: SRR1803612.201418.1,
                                           SRR1660803.166504.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-141               DC347859.1         366-506
            142-562             DC360786.1         149-569
            563-2741            BC096332.1         652-2830
            2742-2877           AK316215.1         2524-2659
            2878-2973           BM677668.1         18-113              c
FEATURES             Location/Qualifiers
     source          1..2973
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..2973
                     /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..2780
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="isoform e is encoded by transcript variant 10;
                     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 e"
                     /protein_id="NP_001307975.1"
                     /db_xref="GeneID:5378"
                     /db_xref="HGNC:HGNC:9121"
                     /db_xref="MIM:600258"
                     /translation="MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKL
                     VLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAK
                     KCKDEIKKIQDLLMSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNN
                     MESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLIRHH
                     YNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCY
                     GPLPSTNSYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMH
                     NDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQTEY
                     SKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGEN
                     IEPVKILVPEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNR
                     VIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATKD
                     LERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQ
                     IEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTE
                     VMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQR
                     YSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILN
                     RNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDIIYRMKHQFGNEIKECVH
                     GRPFFHHLTYLPETT"
     exon            297..399
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            400..563
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            564..680
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            681..803
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            804..947
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1837
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1838..2323
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2324..2454
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2455..2615
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2616..2973
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2951..2956
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="hexamer: AATAAA"
     polyA_site      2973
                     /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 aaactggttt
      301 taattacaac aagaacggct gctgataatt ttagcaccca gtatgtttta gatggcagtg
      361 gccacatact ttctcagaaa ccttcacatc ttggtcaagg tacaactgta actgctttaa
      421 gattatttaa gaatctacct gtaagaaagc agttttactc aactgcaaaa aaatgtaaag
      481 atgaaataaa aaagatccaa gatctcctca tgagctttgg tatccttaaa cctgacttaa
      541 ggattgtctt tgtacataac aaggcagtta tttggcagaa aagcagagta tcagatcaca
      601 agatggctct catgtcagtt ctggggactg ctgttatgaa caatatggaa tcctttcagt
      661 accactctga agaatctcag atttatctca gtggatttct tccaaagtgt gatgcagacc
      721 actctttcac tagtctttca acaccagaaa gaagtttcat cttcataaac agtcgaccag
      781 tacatcaaaa agatatctta aagttaatcc gacatcatta caatctgaaa tgcctaaagg
      841 aatctactcg tttgtatcct gttttctttc tgaaaatcga tgttcctaca gctgatgttg
      901 atgtaaattt aacaccagat aaaagccaag tattattaca aaataaggaa tctgttttaa
      961 ttgctcttga aaatctgatg acgacttgtt atggaccatt acctagtaca aattcttatg
     1021 aaaataataa aacagatgtt tccgcagctg acatcgttct tagtaaaaca gcagaaacag
     1081 atgtgctttt taataaagtg gaatcatctg gaaagaatta ttcaaatgtt gatacttcag
     1141 tcattccatt ccaaaatgat atgcataatg atgaatctgg aaaaaacact gatgattgtt
     1201 taaatcacca gataagtatt ggtgactttg gttatggtca ttgtagtagt gaaatttcta
     1261 acattgataa aaacactaag aatgcatttc aggacatttc aatgagtaat gtatcatggg
     1321 agaactctca gacggaatat agtaaaactt gttttataag ttccgttaag cacacccagt
     1381 cagaaaatgg caataaagac catatagatg agagtgggga aaatgaggaa gaagcaggtc
     1441 ttgaaaactc ttcggaaatt tctgcagatg agtggagcag gggaaatata cttaaaaatt
     1501 cagtgggaga gaatattgaa cctgtgaaaa ttttagtgcc tgaaaaaagt ttaccatgta
     1561 aagtaagtaa taataattat ccaatccctg aacaaatgaa tcttaatgaa gattcatgta
     1621 acaaaaaatc aaatgtaata gataataaat ctggaaaagt tacagcttat gatttactta
     1681 gcaatcgagt aatcaagaaa cccatgtcag caagtgctct ttttgttcaa gatcatcgtc
     1741 ctcagtttct catagaaaat cctaagacta gtttagagga tgcaacacta caaattgaag
     1801 aactgtggaa gacattgagt gaagaggaaa aactgaaata tgaagagaag gctactaaag
     1861 acttggaacg atacaatagt caaatgaaga gagccattga acaggagtca caaatgtcac
     1921 taaaagatgg cagaaaaaag ataaaaccca ccagcgcatg gaatttggcc cagaagcaca
     1981 agttaaaaac ctcattatct aatcaaccaa aacttgatga actccttcag tcccaaattg
     2041 aaaaaagaag gagtcaaaat attaaaatgg tacagatccc cttttctatg aaaaacttaa
     2101 aaataaattt taagaaacaa aacaaagttg acttagaaga gaaggatgaa ccttgcttga
     2161 tccacaatct caggtttcct gatgcatggc taatgacatc caaaacagag gtaatgttat
     2221 taaatccata tagagtagaa gaagccctgc tatttaaaag acttcttgag aatcataaac
     2281 ttcctgcaga gccactggaa aagccaatta tgttaacaga gagtcttttt aatggatctc
     2341 attatttaga cgttttatat aaaatgacag cagatgacca aagatacagt ggatcaactt
     2401 acctgtctga tcctcgtctt acagcgaatg gtttcaagat aaaattgata ccaggagttt
     2461 caattactga aaattacttg gaaatagaag gaatggctaa ttgtctccca ttctatggag
     2521 tagcagattt aaaagaaatt cttaatgcta tattaaacag aaatgcaaag gaagtttatg
     2581 aatgtagacc tcgcaaagtg ataagttatt tagagggaga agcagtgcgt ctatccagac
     2641 aattacccat gtacttatca aaagaggaca tccaagacat tatctacaga atgaagcacc
     2701 agtttggaaa tgaaattaaa gagtgtgttc atggtcgccc attttttcat catttaacct
     2761 atcttccaga aactacatga ttaaatatgt ttaagaagat tagttaccat tgaaattggt
     2821 tctgtcataa aacagcatga gtctggtttt aaattatctt tgtattatgt gtcacatggt
     2881 tattttttaa atgaggattc actgacttgt ttttatattg aaaaaagttc cacgtattgt
     2941 agaaaacgta aataaactaa tatagactat tca
//
