LOCUS       XM_047444775            3216 bp    mRNA    linear   PRI 25-AUG-2024
DEFINITION  PREDICTED: Homo sapiens PMS1 homolog 1, mismatch repair system
            component (PMS1), transcript variant X2, mRNA.
ACCESSION   XM_047444775
VERSION     XM_047444775.1
DBLINK      BioProject: PRJNA168
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000002.12) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2024_08
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.3
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 08/23/2024
            ##Genome-Annotation-Data-END##
FEATURES             Location/Qualifiers
     source          1..3216
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
     gene            1..3216
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="PMS1 homolog 1, mismatch repair system component;
                     Derived by automated computational analysis using gene
                     prediction method: Gnomon. Supporting evidence includes
                     similarity to: 3 mRNAs, 29 ESTs, 468 long SRA reads, 6
                     Proteins, and 99% coverage of the annotated genomic
                     feature by RNAseq alignments, including 11 samples with
                     support for all annotated introns"
                     /db_xref="GeneID:5378"
                     /db_xref="HGNC:HGNC:9121"
                     /db_xref="MIM:600258"
     CDS             342..3023
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /codon_start=1
                     /product="PMS1 protein homolog 1 isoform X1"
                     /protein_id="XP_047300731.1"
                     /db_xref="GeneID:5378"
                     /db_xref="HGNC:HGNC:9121"
                     /db_xref="MIM:600258"
                     /translation="MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKL
                     ENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTYGFRGEALGSICC
                     IAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYS
                     TAKKCKDEIKKIQDLLMSFGILKPDLRIVFVHNKIYLSGFLPKCDADHSFTSLSTPER
                     SFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKS
                     QVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVLSKTAETDVLFNKV
                     ESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKN
                     TKNAFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLEN
                     SSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMNLNEDSCN
                     KKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQI
                     EELWKTLSEEEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLA
                     QKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEEK
                     DEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLT
                     ESLFNGSHYLDVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEG
                     MANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKE
                     DIQDIIYRMKHQFGNEIKECVHGRPFFHHLTYLPETT"
ORIGIN      
        1 agtgccgcgc tctctgcacc cgctctgccg cgcgcgtgcg tgctgggtgc gggtgcgggt
       61 gcggggttgg gcctgcgcat cgggtgagac gctggctgct tgcggctagt ggatggtaat
      121 tgcctgcctc gcgctagcag gaaggtagtg tggtgtgact aacgggtatt tattatatcc
      181 tcgatggctc gagggccccg tcccctctac tcgtcctggt ccgggcgcga acgctatagg
      241 gcagctaagg gcgctccccg cggggcggga agcgaagccg ggcttgcggg cgcgcacacg
      301 tggaacgcgt tttctgagca gctgctctgt taaaagcgaa aatgaaacaa ttgcctgcgg
      361 caacagttcg actcctttca agttctcaga tcatcacttc ggtggtcagt gttgtaaaag
      421 agcttattga aaactccttg gatgctggtg ccacaagcgt agatgttaaa ctggagaact
      481 atggatttga taaaattgag gtgcgagata acggggaggg tatcaaggct gttgatgcac
      541 ctgtaatggc aatgaagtac tacacctcaa aaataaatag tcatgaagat cttgaaaatt
      601 tgacaactta cggttttcgt ggagaagcct tggggtcaat ttgttgtata gctgaggttt
      661 taattacaac aagaacggct gctgataatt ttagcaccca gtatgtttta gatggcagtg
      721 gccacatact ttctcagaaa ccttcacatc ttggtcaagg tacaactgta actgctttaa
      781 gattatttaa gaatctacct gtaagaaagc agttttactc aactgcaaaa aaatgtaaag
      841 atgaaataaa aaagatccaa gatctcctca tgagctttgg tatccttaaa cctgacttaa
      901 ggattgtctt tgtacataac aagatttatc tcagtggatt tcttccaaag tgtgatgcag
      961 accactcttt cactagtctt tcaacaccag aaagaagttt catcttcata aacagtcgac
     1021 cagtacatca aaaagatatc ttaaagttaa tccgacatca ttacaatctg aaatgcctaa
     1081 aggaatctac tcgtttgtat cctgttttct ttctgaaaat cgatgttcct acagctgatg
     1141 ttgatgtaaa tttaacacca gataaaagcc aagtattatt acaaaataag gaatctgttt
     1201 taattgctct tgaaaatctg atgacgactt gttatggacc attacctagt acaaattctt
     1261 atgaaaataa taaaacagat gtttccgcag ctgacatcgt tcttagtaaa acagcagaaa
     1321 cagatgtgct ttttaataaa gtggaatcat ctggaaagaa ttattcaaat gttgatactt
     1381 cagtcattcc attccaaaat gatatgcata atgatgaatc tggaaaaaac actgatgatt
     1441 gtttaaatca ccagataagt attggtgact ttggttatgg tcattgtagt agtgaaattt
     1501 ctaacattga taaaaacact aagaatgcat ttcaggacat ttcaatgagt aatgtatcat
     1561 gggagaactc tcagacggaa tatagtaaaa cttgttttat aagttccgtt aagcacaccc
     1621 agtcagaaaa tggcaataaa gaccatatag atgagagtgg ggaaaatgag gaagaagcag
     1681 gtcttgaaaa ctcttcggaa atttctgcag atgagtggag caggggaaat atacttaaaa
     1741 attcagtggg agagaatatt gaacctgtga aaattttagt gcctgaaaaa agtttaccat
     1801 gtaaagtaag taataataat tatccaatcc ctgaacaaat gaatcttaat gaagattcat
     1861 gtaacaaaaa atcaaatgta atagataata aatctggaaa agttacagct tatgatttac
     1921 ttagcaatcg agtaatcaag aaacccatgt cagcaagtgc tctttttgtt caagatcatc
     1981 gtcctcagtt tctcatagaa aatcctaaga ctagtttaga ggatgcaaca ctacaaattg
     2041 aagaactgtg gaagacattg agtgaagagg aaaaactgaa atatgaagag aaggctacta
     2101 aagacttgga acgatacaat agtcaaatga agagagccat tgaacaggag tcacaaatgt
     2161 cactaaaaga tggcagaaaa aagataaaac ccaccagcgc atggaatttg gcccagaagc
     2221 acaagttaaa aacctcatta tctaatcaac caaaacttga tgaactcctt cagtcccaaa
     2281 ttgaaaaaag aaggagtcaa aatattaaaa tggtacagat ccccttttct atgaaaaact
     2341 taaaaataaa ttttaagaaa caaaacaaag ttgacttaga agagaaggat gaaccttgct
     2401 tgatccacaa tctcaggttt cctgatgcat ggctaatgac atccaaaaca gaggtaatgt
     2461 tattaaatcc atatagagta gaagaagccc tgctatttaa aagacttctt gagaatcata
     2521 aacttcctgc agagccactg gaaaagccaa ttatgttaac agagagtctt tttaatggat
     2581 ctcattattt agacgtttta tataaaatga cagcagatga ccaaagatac agtggatcaa
     2641 cttacctgtc tgatcctcgt cttacagcga atggtttcaa gataaaattg ataccaggag
     2701 tttcaattac tgaaaattac ttggaaatag aaggaatggc taattgtctc ccattctatg
     2761 gagtagcaga tttaaaagaa attcttaatg ctatattaaa cagaaatgca aaggaagttt
     2821 atgaatgtag acctcgcaaa gtgataagtt atttagaggg agaagcagtg cgtctatcca
     2881 gacaattacc catgtactta tcaaaagagg acatccaaga cattatctac agaatgaagc
     2941 accagtttgg aaatgaaatt aaagagtgtg ttcatggtcg cccatttttt catcatttaa
     3001 cctatcttcc agaaactaca tgattaaata tgtttaagaa gattagttac cattgaaatt
     3061 ggttctgtca taaaacagca tgagtctggt tttaaattat ctttgtatta tgtgtcacat
     3121 ggttattttt taaatgagga ttcactgact tgtttttata ttgaaaaaag ttccacgtat
     3181 tgtagaaaac gtaaataaac taatatagac tattca
//
