LOCUS       NM_001321045            3282 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens PMS1 homolog 1, mismatch repair system component
            (PMS1), transcript variant 7, mRNA.
ACCESSION   NM_001321045 XM_005246647
VERSION     NM_001321045.2
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 3282)
  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 3282)
  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 3282)
  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 3282)
  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 3282)
  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 3282)
  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 3282)
  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 3282)
  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 3282)
  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 3282)
  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, DB178424.1,
            BC096332.1, AK316215.1 and BM677668.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001321045.1.
            
            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 :: SRR1660807.34614.1,
                                           SRR1660807.120531.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [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
            40-597              DB178424.1         3-560
            598-3050            BC096332.1         378-2830
            3051-3186           AK316215.1         2524-2659
            3187-3282           BM677668.1         18-113              c
FEATURES             Location/Qualifiers
     source          1..3282
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..3282
                     /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..270
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            271..422
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             291..3089
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="isoform a is encoded by transcript variant 7; 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_001307974.1"
                     /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            423..605
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            606..708
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            709..872
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            873..989
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1112
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..1256
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1257..2146
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2147..2632
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2633..2763
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2764..2924
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2925..3282
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3260..3265
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="hexamer: AATAAA"
     polyA_site      3282
                     /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 gaaggcacac ctgttgtcct taactgactt tccgggtcat
      181 cagcacttct tcagaagtgt tccttttccc tcccagcaaa tatggaagac tgactatcct
      241 gatattccca gacattcttt gctgtgattt ctgctctgtt aaaagcgaaa atgaaacaat
      301 tgcctgcggc aacagttcga ctcctttcaa gttctcagat catcacttcg gtggtcagtg
      361 ttgtaaaaga gcttattgaa aactccttgg atgctggtgc cacaagcgta gatgttaaac
      421 tggagaacta tggatttgat aaaattgagg tgcgagataa cggggagggt atcaaggctg
      481 ttgatgcacc tgtaatggca atgaagtact acacctcaaa aataaatagt catgaagatc
      541 ttgaaaattt gacaacttac ggttttcgtg gagaagcctt ggggtcaatt tgttgtatag
      601 ctgaggtttt aattacaaca agaacggctg ctgataattt tagcacccag tatgttttag
      661 atggcagtgg ccacatactt tctcagaaac cttcacatct tggtcaaggt acaactgtaa
      721 ctgctttaag attatttaag aatctacctg taagaaagca gttttactca actgcaaaaa
      781 aatgtaaaga tgaaataaaa aagatccaag atctcctcat gagctttggt atccttaaac
      841 ctgacttaag gattgtcttt gtacataaca aggcagttat ttggcagaaa agcagagtat
      901 cagatcacaa gatggctctc atgtcagttc tggggactgc tgttatgaac aatatggaat
      961 cctttcagta ccactctgaa gaatctcaga tttatctcag tggatttctt ccaaagtgtg
     1021 atgcagacca ctctttcact agtctttcaa caccagaaag aagtttcatc ttcataaaca
     1081 gtcgaccagt acatcaaaaa gatatcttaa agttaatccg acatcattac aatctgaaat
     1141 gcctaaagga atctactcgt ttgtatcctg ttttctttct gaaaatcgat gttcctacag
     1201 ctgatgttga tgtaaattta acaccagata aaagccaagt attattacaa aataaggaat
     1261 ctgttttaat tgctcttgaa aatctgatga cgacttgtta tggaccatta cctagtacaa
     1321 attcttatga aaataataaa acagatgttt ccgcagctga catcgttctt agtaaaacag
     1381 cagaaacaga tgtgcttttt aataaagtgg aatcatctgg aaagaattat tcaaatgttg
     1441 atacttcagt cattccattc caaaatgata tgcataatga tgaatctgga aaaaacactg
     1501 atgattgttt aaatcaccag ataagtattg gtgactttgg ttatggtcat tgtagtagtg
     1561 aaatttctaa cattgataaa aacactaaga atgcatttca ggacatttca atgagtaatg
     1621 tatcatggga gaactctcag acggaatata gtaaaacttg ttttataagt tccgttaagc
     1681 acacccagtc agaaaatggc aataaagacc atatagatga gagtggggaa aatgaggaag
     1741 aagcaggtct tgaaaactct tcggaaattt ctgcagatga gtggagcagg ggaaatatac
     1801 ttaaaaattc agtgggagag aatattgaac ctgtgaaaat tttagtgcct gaaaaaagtt
     1861 taccatgtaa agtaagtaat aataattatc caatccctga acaaatgaat cttaatgaag
     1921 attcatgtaa caaaaaatca aatgtaatag ataataaatc tggaaaagtt acagcttatg
     1981 atttacttag caatcgagta atcaagaaac ccatgtcagc aagtgctctt tttgttcaag
     2041 atcatcgtcc tcagtttctc atagaaaatc ctaagactag tttagaggat gcaacactac
     2101 aaattgaaga actgtggaag acattgagtg aagaggaaaa actgaaatat gaagagaagg
     2161 ctactaaaga cttggaacga tacaatagtc aaatgaagag agccattgaa caggagtcac
     2221 aaatgtcact aaaagatggc agaaaaaaga taaaacccac cagcgcatgg aatttggccc
     2281 agaagcacaa gttaaaaacc tcattatcta atcaaccaaa acttgatgaa ctccttcagt
     2341 cccaaattga aaaaagaagg agtcaaaata ttaaaatggt acagatcccc ttttctatga
     2401 aaaacttaaa aataaatttt aagaaacaaa acaaagttga cttagaagag aaggatgaac
     2461 cttgcttgat ccacaatctc aggtttcctg atgcatggct aatgacatcc aaaacagagg
     2521 taatgttatt aaatccatat agagtagaag aagccctgct atttaaaaga cttcttgaga
     2581 atcataaact tcctgcagag ccactggaaa agccaattat gttaacagag agtcttttta
     2641 atggatctca ttatttagac gttttatata aaatgacagc agatgaccaa agatacagtg
     2701 gatcaactta cctgtctgat cctcgtctta cagcgaatgg tttcaagata aaattgatac
     2761 caggagtttc aattactgaa aattacttgg aaatagaagg aatggctaat tgtctcccat
     2821 tctatggagt agcagattta aaagaaattc ttaatgctat attaaacaga aatgcaaagg
     2881 aagtttatga atgtagacct cgcaaagtga taagttattt agagggagaa gcagtgcgtc
     2941 tatccagaca attacccatg tacttatcaa aagaggacat ccaagacatt atctacagaa
     3001 tgaagcacca gtttggaaat gaaattaaag agtgtgttca tggtcgccca ttttttcatc
     3061 atttaaccta tcttccagaa actacatgat taaatatgtt taagaagatt agttaccatt
     3121 gaaattggtt ctgtcataaa acagcatgag tctggtttta aattatcttt gtattatgtg
     3181 tcacatggtt attttttaaa tgaggattca ctgacttgtt tttatattga aaaaagttcc
     3241 acgtattgta gaaaacgtaa ataaactaat atagactatt ca
//
