LOCUS       NM_001360452            1686 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens protein-L-isoaspartate (D-aspartate)
            O-methyltransferase (PCMT1), transcript variant 7, mRNA.
ACCESSION   NM_001360452
VERSION     NM_001360452.2
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 1686)
  AUTHORS   Wang,Y., Zhang,M., Zhang,Z., Li,B., Huang,J., Li,J., Geng,Z.,
            Zhang,X., Song,X., Wang,L., Zuo,L. and Hu,J.
  TITLE     [Prognostic Value of PCMT1 Expression in Gastric Cancer and Its
            Regulatory Effect on Spindle Assembly Checkpoints]
  JOURNAL   Sichuan Da Xue Xue Bao Yi Xue Ban 54 (6), 1167-1175 (2023)
   PUBMED   38162070
  REMARK    GeneRIF: [Prognostic Value of PCMT1 Expression in Gastric Cancer
            and Its Regulatory Effect on Spindle Assembly Checkpoints].
REFERENCE   2  (bases 1 to 1686)
  AUTHORS   Saiding,A., Maimaitiyiming,D., Chen,M., Yan,F., Chen,D., Hu,X. and
            Shi,P.
  TITLE     PCMT1 knockdown attenuates malignant properties by globally
            regulating transcriptome profiles in triple-negative breast cancer
            cells
  JOURNAL   PeerJ 11, e16006 (2023)
   PUBMED   37953789
  REMARK    GeneRIF: PCMT1 knockdown attenuates malignant properties by
            globally regulating transcriptome profiles in triple-negative
            breast cancer cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1686)
  AUTHORS   Zhong,J., Yuan,C., Liu,L., Du,Y., Hui,Y., Chen,Z., Diao,C.,
            Yang,R., Liu,G. and Liu,X.
  TITLE     PCMT1 regulates the migration, invasion, and apoptosis of prostate
            cancer through modulating the PI3K/AKT/GSK-3beta pathway
  JOURNAL   Aging (Albany NY) 15 (20), 11654-11671 (2023)
   PUBMED   37899170
  REMARK    GeneRIF: PCMT1 regulates the migration, invasion, and apoptosis of
            prostate cancer through modulating the PI3K/AKT/GSK-3beta pathway.
REFERENCE   4  (bases 1 to 1686)
  AUTHORS   Liu,J., Liu,B., Li,Y., Mi,Z., Tan,H. and Rong,P.
  TITLE     PCMT1 is a potential target related to tumor progression and immune
            infiltration in liver cancer
  JOURNAL   Eur J Med Res 28 (1), 289 (2023)
   PUBMED   37596654
  REMARK    GeneRIF: PCMT1 is a potential target related to tumor progression
            and immune infiltration in liver cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1686)
  AUTHORS   Pyun,J.A., Kang,H., Lee,S.K., Kim,M.H. and Kwack,K.
  TITLE     Association between polymorphisms in the protein L-isoaspartate
            (D-aspartate) O-methyltransferase gene and premature ovarian
            failure
  JOURNAL   Fertil Steril 91 (4 Suppl), 1362-1365 (2009)
   PUBMED   18582870
  REMARK    GeneRIF: Four polymorphisms in the protein
            L-isoaspartyl-O-methyltransferase (PCMT1) gene, encoding a protein
            repair enzyme, are associated with premature ovarian failure (POF).
REFERENCE   6  (bases 1 to 1686)
  AUTHORS   Zhu,H., Yang,W., Lu,W., Zhang,J., Shaw,G.M., Lammer,E.J. and
            Finnell,R.H.
  TITLE     A known functional polymorphism (Ile120Val) of the human PCMT1 gene
            and risk of spina bifida
  JOURNAL   Mol Genet Metab 87 (1), 66-70 (2006)
   PUBMED   16256389
  REMARK    GeneRIF: Our results showed that the Ile120Val polymorphism of
            PCMT1 gene is a genetic modifier for the risk of spina bifida.
            Val/Val genotype was associated with a reduction in risk for spina
            bifida.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1686)
  AUTHORS   MacLaren,D.C., O'Connor,C.M., Xia,Y.R., Mehrabian,M., Klisak,I.,
            Sparkes,R.S., Clarke,S. and Lusis,A.J.
  TITLE     The L-isoaspartyl/D-aspartyl protein methyltransferase gene (PCMT1)
            maps to human chromosome 6q22.3-6q24 and the syntenic region of
            mouse chromosome 10
  JOURNAL   Genomics 14 (4), 852-856 (1992)
   PUBMED   1478665
REFERENCE   8  (bases 1 to 1686)
  AUTHORS   MacLaren,D.C., Kagan,R.M. and Clarke,S.
  TITLE     Alternative splicing of the human isoaspartyl protein carboxyl
            methyltransferase RNA leads to the generation of a C-terminal -RDEL
            sequence in isozyme II
  JOURNAL   Biochem Biophys Res Commun 185 (1), 277-283 (1992)
   PUBMED   1339271
REFERENCE   9  (bases 1 to 1686)
  AUTHORS   Ingrosso,D., Kagan,R.M. and Clarke,S.
  TITLE     Distinct C-terminal sequences of isozymes I and II of the human
            erythrocyte L-isoaspartyl/D-aspartyl protein methyltransferase
  JOURNAL   Biochem Biophys Res Commun 175 (1), 351-358 (1991)
   PUBMED   1998518
  REMARK    Erratum:[Biochem Biophys Res Commun 1991 Apr 15;176(1):549]
REFERENCE   10 (bases 1 to 1686)
  AUTHORS   Ingrosso,D., Fowler,A.V., Bleibaum,J. and Clarke,S.
  TITLE     Sequence of the D-aspartyl/L-isoaspartyl protein methyltransferase
            from human erythrocytes. Common sequence motifs for protein, DNA,
            RNA, and small molecule S-adenosylmethionine-dependent
            methyltransferases
  JOURNAL   J Biol Chem 264 (33), 20131-20139 (1989)
   PUBMED   2684970
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355312.24 and AK129778.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 6, 2020 this sequence version replaced NM_001360452.1.
            
            Summary: This gene encodes a member of the type II class of protein
            carboxyl methyltransferase enzymes. The encoded enzyme plays a role
            in protein repair by recognizing and converting D-aspartyl and
            L-isoaspartyl residues resulting from spontaneous deamidation back
            to the normal L-aspartyl form. The encoded protein may play a
            protective role in the pathogenesis of Alzheimer's disease, and
            single nucleotide polymorphisms in this gene have been associated
            with spina bifida and premature ovarian failure. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (7) has the same exon structure,
            but a different 5' UTR and uses an alternate start codon, compared
            to variant 1. It encodes isoform 6, which has a shorter N-terminus,
            compared to isoform 1.
            
            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 :: AK129778.1, D25545.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000464889.7/ ENSP00000420813.2
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                AL355312.24        31280-31317
            39-1683             AK129778.1         1-1645
            1684-1686           AL355312.24        92956-92958
FEATURES             Location/Qualifiers
     source          1..1686
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1"
     gene            1..1686
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
                     /note="protein-L-isoaspartate (D-aspartate)
                     O-methyltransferase"
                     /db_xref="GeneID:5110"
                     /db_xref="HGNC:HGNC:8728"
                     /db_xref="MIM:176851"
     exon            1..216
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
                     /inference="alignment:Splign:2.1.0"
     CDS             162..845
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
                     /EC_number="2.1.1.77"
                     /note="isoform 6 is encoded by transcript variant 7;
                     protein-beta-aspartate methyltransferase; L-isoaspartyl
                     protein carboxyl methyltransferase; protein
                     L-isoaspartyl/D-aspartyl methyltransferase; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="protein-L-isoaspartate(D-aspartate)
                     O-methyltransferase isoform 6"
                     /protein_id="NP_001347381.1"
                     /db_xref="CCDS:CCDS94017.1"
                     /db_xref="GeneID:5110"
                     /db_xref="HGNC:HGNC:8728"
                     /db_xref="MIM:176851"
                     /translation="MAWKSGGASHSELIHNLRKNGIIKTDKVFEVMLATDRSHYAKCN
                     PYMDSPQSIGFQATISAPHMHAYALELLFDQLHEGAKALDVGSGSGILTACFARMVGC
                     TGKVIGIDHIKELVDDSVNNVRKDDPTLLSSGRVQLVVGDGRMGYAEEAPYDAIHVGA
                     AAPVVPQALIDQLKPGGRLILPVGPAGGNQMLEQYDKLQDGSIKMKPLMGVIYVPLTD
                     KEKQWSRWK"
     exon            217..321
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
                     /inference="alignment:Splign:2.1.0"
     exon            322..353
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
                     /inference="alignment:Splign:2.1.0"
     exon            354..458
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
                     /inference="alignment:Splign:2.1.0"
     exon            459..579
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
                     /inference="alignment:Splign:2.1.0"
     exon            580..665
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
                     /inference="alignment:Splign:2.1.0"
     exon            666..882
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1686
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1150..1155
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
                     /note="hexamer: AAGAAA"
     polyA_site      1175
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
                     /note="major polyA site"
     regulatory      1664..1669
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
                     /note="hexamer: AATAAA"
     polyA_site      1686
                     /gene="PCMT1"
                     /gene_synonym="PIMT"
ORIGIN      
        1 gcagtggcgg cagcggcggc gacggcagta acagcggcag ctacagcggg gacgcgagcg
       61 gggcggtgac ggtgtgggag gtggtctcac tcttgggaaa actgctgggc accgtcgtcg
      121 cgctgaaggt ggttctgtac ctgctccgag tgtgcttagc gatggcctgg aaatccggcg
      181 gcgccagcca ctcggagcta atccacaatc tccgcaaaaa tggaatcatc aagacagata
      241 aagtatttga agtgatgctg gctacagacc gctcccacta tgcaaaatgt aacccataca
      301 tggattctcc acaatcaata ggtttccaag caacaatcag tgctccacac atgcatgcat
      361 atgcgctaga acttctattt gatcagttgc atgaaggagc taaagctctt gatgtaggat
      421 ctggaagtgg aatccttact gcatgttttg cacgtatggt tggatgtact ggaaaagtca
      481 taggaattga tcacattaaa gagctagtag atgactcagt aaataatgtc aggaaggacg
      541 atccaacact tctgtcttca gggagagtac agcttgttgt gggggatgga agaatgggat
      601 atgctgaaga agccccttat gatgccattc atgtgggagc tgcagcccct gttgtacccc
      661 aggcgctaat agatcagtta aagcccggag gaagattgat attgcctgtt ggtcctgcag
      721 gcggaaacca aatgttggag cagtatgaca agctacaaga tggcagcatc aaaatgaagc
      781 ctctgatggg ggtgatatac gtgcctttaa cagataaaga aaagcagtgg tccaggtgga
      841 agtgatttta tcttctgctc tttcttcttc cacacatgca agggatgaat tgtaaaagca
      901 acatcagctt gaccagtata aaattacagt ggattgctca tctcagtcct caaagctttt
      961 tgaaaaccaa caccatcaca gcttgttttg gactttgtta cactgttatt ttcagcatga
     1021 aaatgtgtgt ttttttaggg tttctgattc ttcaaagagg cacagagcca aattggtaga
     1081 ggaaggatgc aaagtataaa tttgtgtaat attactttaa catgcccata ttttacttgg
     1141 aaatattaaa agaaagggtt ctgtaaaatg gaaaacttag tttgtgaatt gattttgagg
     1201 agtggttttt cttttcttgg acacttaatt ctgttctgat attaatttat cagattgctt
     1261 ttgtgcattg gataacacca ccattcacaa gttaagattc ttggtatttg gatatctgtt
     1321 agatgctact aagaaaatag agatgagctt tctttttaaa gcttttgatg tggtgtcata
     1381 gaatagcatg ttgtagatac aatcagctgc tttgttacct taaaactagg catttgtaaa
     1441 tattaaacca taagatggca ggtgatgtcc tgtaaacact cagctgttca gattggacat
     1501 aactgactta gttcttccct tctctctctc tcaaaattat aggagacttg tagtttagtg
     1561 tggttttctg tttctaattt gctgctgata atgtatatga acttaacatg ctgtgtaagc
     1621 tgtgtcctag ttcttgaaca gtttatgcag tgctgctttg ccaaataaag ttaaaagtaa
     1681 aagagg
//
