LOCUS       NM_052937               4044 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens protein-L-isoaspartate (D-aspartate)
            O-methyltransferase domain containing 1 (PCMTD1), transcript
            variant 1, mRNA.
ACCESSION   NM_052937
VERSION     NM_052937.4
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 4044)
  AUTHORS   Warmack,R.A., Pang,E.Z., Peluso,E., Lowenson,J.D., Ong,J.Y.,
            Torres,J.Z. and Clarke,S.G.
  TITLE     Human Protein-l-isoaspartate O-Methyltransferase Domain-Containing
            Protein 1 (PCMTD1) Associates with Cullin-RING Ligase Proteins
  JOURNAL   Biochemistry 61 (10), 879-894 (2022)
   PUBMED   35486881
  REMARK    GeneRIF: Human Protein-l-isoaspartate O-Methyltransferase
            Domain-Containing Protein 1 (PCMTD1) Associates with Cullin-RING
            Ligase Proteins.
REFERENCE   2  (bases 1 to 4044)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 4044)
  AUTHORS   Liu,J., Murali,T., Yu,T., Liu,C., Sivakumaran,T.A., Moseley,H.N.B.,
            Zhulin,I.B., Weiss,H.L., Durbin,E.B., Ellingson,S.R., Liu,J.,
            Huang,B., Hallahan,B.J., Horbinski,C.M., Hodges,K., Napier,D.L.,
            Bocklage,T., Mueller,J., Vanderford,N.L., Fardo,D.W., Wang,C. and
            Arnold,S.M.
  TITLE     Characterization of Squamous Cell Lung Cancers from Appalachian
            Kentucky
  JOURNAL   Cancer Epidemiol Biomarkers Prev 28 (2), 348-356 (2019)
   PUBMED   30377206
  REMARK    GeneRIF: This study has identified an increased percentage of IDH1
            and PCMTD1 mutations in Squamous Cell Lung Cancers arising in the
            Appalachian Kentucky residents versus The Cancer Genome Atlas, with
            population-specific implications for the personalized treatment of
            this disease.
REFERENCE   4  (bases 1 to 4044)
  AUTHORS   Nongpiur,M.E., Cheng,C.Y., Duvesh,R., Vijayan,S., Baskaran,M.,
            Khor,C.C., Allen,J., Kavitha,S., Venkatesh,R., Goh,D., Husain,R.,
            Boey,P.Y., Quek,D., Ho,C.L., Wong,T.T., Perera,S., Wong,T.Y.,
            Krishnadas,S.R., Sundaresan,P., Aung,T. and Vithana,E.N.
  TITLE     Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci in
            Patients with Early Stages of Angle-Closure Disease
  JOURNAL   Ophthalmology 125 (5), 664-670 (2018)
   PUBMED   29310965
  REMARK    GeneRIF: In this study, 2 of 8 (primary angle-closure glaucoma)
            PACG-associated loci were associated significantly with PACS
            status, the earliest stage in the angle-closure glaucoma disease
            course. The association of these PACG loci with PACS status
            suggests that these loci may confer susceptibility to a narrow
            angle configuration.
REFERENCE   5  (bases 1 to 4044)
  AUTHORS   Tan,C., Huang,L. and Yang,Z.
  TITLE     [Association of PLEKHA7, COL11A1 and PCMTD1-ST18 gene polymorphisms
            with primary angle closure glaucoma in ethnic Han Chinese from
            Sichuan]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 33 (4), 545-549 (2016)
   PUBMED   27455018
  REMARK    GeneRIF: No significant association of PLEKHA7 rs11024102, COL11A1
            rs3753841 and PCMTD1-ST18 rs1015213 with primary angle closure
            glaucoma was found among ethnic Han Chinese from Sichuan
REFERENCE   6  (bases 1 to 4044)
  AUTHORS   Wei,X., Nongpiur,M.E., de Leon,M.S., Baskaran,M., Perera,S.A.,
            How,A.C., Vithana,E.N., Khor,C.C. and Aung,T.
  TITLE     Genotype-phenotype correlation analysis for three primary angle
            closure glaucoma-associated genetic polymorphisms
  JOURNAL   Invest Ophthalmol Vis Sci 55 (2), 1143-1148 (2014)
   PUBMED   24474268
  REMARK    GeneRIF: The three genetic susceptibility loci for primary
            angle-closure glaucoma did not underlie any major phenotypic
            diversity in terms of disease severity or progression.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 4044)
  AUTHORS   Duvesh,R., Verma,A., Venkatesh,R., Kavitha,S., Ramulu,P.Y.,
            Wojciechowski,R. and Sundaresan,P.
  TITLE     Association study in a South Indian population supports rs1015213
            as a risk factor for primary angle closure
  JOURNAL   Invest Ophthalmol Vis Sci 54 (8), 5624-5628 (2013)
   PUBMED   23847314
  REMARK    GeneRIF: In our study, rs1015213 (located in the intergenic region
            between PCMTD1 and ST18) was associated significantly with primary
            angle closure.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 4044)
  AUTHORS   Day,A.C., Luben,R., Khawaja,A.P., Low,S., Hayat,S., Dalzell,N.,
            Wareham,N.J., Khaw,K.T. and Foster,P.J.
  TITLE     Genotype-phenotype analysis of SNPs associated with primary angle
            closure glaucoma (rs1015213, rs3753841 and rs11024102) and ocular
            biometry in the EPIC-Norfolk Eye Study
  JOURNAL   Br J Ophthalmol 97 (6), 704-707 (2013)
   PUBMED   23505305
  REMARK    GeneRIF: Presence of at least one A allele (AG or AA genotype) for
            rs1015213 was associated with a shallower anterior chamber depth
            (-0.07 mm, 95% CI -0.01 to -0.14 mm, p=0.028) after adjusting for
            age and sex (both p</=0.001).
REFERENCE   9  (bases 1 to 4044)
  AUTHORS   Greliche,N., Germain,M., Lambert,J.C., Cohen,W., Bertrand,M.,
            Dupuis,A.M., Letenneur,L., Lathrop,M., Amouyel,P., Morange,P.E. and
            Tregouet,D.A.
  TITLE     A genome-wide search for common SNP x SNP interactions on the risk
            of venous thrombosis
  JOURNAL   BMC Med Genet 14, 36 (2013)
   PUBMED   23509962
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK056952.1 and AC090186.7.
            
            On Nov 22, 2018 this sequence version replaced NM_052937.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.211888.1,
                                           SRR1803615.1857.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000522514.6/ ENSP00000428099.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-708               AK056952.1         1-708
            709-709             AC090186.7         11832-11832
            710-1136            AK056952.1         710-1136
            1137-4044           AC090186.7         24935-27842
FEATURES             Location/Qualifiers
     source          1..4044
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q11.23"
     gene            1..4044
                     /gene="PCMTD1"
                     /note="protein-L-isoaspartate (D-aspartate)
                     O-methyltransferase domain containing 1"
                     /db_xref="GeneID:115294"
                     /db_xref="HGNC:HGNC:30483"
                     /db_xref="MIM:620091"
     exon            1..107
                     /gene="PCMTD1"
                     /inference="alignment:Splign:2.1.0"
     exon            108..509
                     /gene="PCMTD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             203..1276
                     /gene="PCMTD1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein-L-isoaspartate O-methyltransferase
                     domain-containing protein 1"
                     /codon_start=1
                     /product="protein-L-isoaspartate O-methyltransferase
                     domain-containing protein 1 isoform 1"
                     /protein_id="NP_443169.2"
                     /db_xref="CCDS:CCDS6148.1"
                     /db_xref="GeneID:115294"
                     /db_xref="HGNC:HGNC:30483"
                     /db_xref="MIM:620091"
                     /translation="MGGAVSAGEDNDDLIDNLKEAQYIRTERVEQAFRAIDRGDYYLE
                     GYRDNAYKDLAWKHGNIHLSAPCIYSEVMEALKLQPGLSFLNLGSGTGYLSTMVGLIL
                     GPFGINHGIELHSDVVEYAKEKLESFIKNSDSFDKFEFCEPAFVVGNCLQIASDSHQY
                     DRIYCGAGVQKDHENYMKILLKVGGILVMPIEDQLTQIMRTGQNTWESKNILAVSFAP
                     LVQPSKNDNGKPDSVGLPPCAVRNLQDLARIYIRRTLRNFINDEMQAKGIPQRAPPKR
                     KRKRVKQRINTYVFVGNQLIPQPLDSEEDEKMEEDNKEEEEKDHNEAMKPEEPPQNLL
                     REKIMKLPLPESLKAYLTYFRDK"
     exon            510..612
                     /gene="PCMTD1"
                     /inference="alignment:Splign:2.1.0"
     exon            613..784
                     /gene="PCMTD1"
                     /inference="alignment:Splign:2.1.0"
     exon            785..908
                     /gene="PCMTD1"
                     /inference="alignment:Splign:2.1.0"
     exon            909..4044
                     /gene="PCMTD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4022..4027
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCMTD1"
                     /note="hexamer: AATAAA"
     polyA_site      4044
                     /gene="PCMTD1"
                     /note="major polyA site"
ORIGIN      
        1 actcggcggt ggcgtccgtg ttgttattgt ggtggtagcg gcgtctggct gctgcggacc
       61 ccgccgagtc ctagcgcctg gcctgcgcgc cgctgcccgc gccacaggat taatttattt
      121 ttggaaatca agtgcaatat tggaagccat ttctactaat tttatttcac ttttaaattt
      181 atgatttgat ttgaatacta tcatgggagg agctgtgagt gctggggaag ataatgatga
      241 cttaattgat aatttaaaag aagctcagta tattcgtact gaaagagtgg agcaagcctt
      301 cagagcgatt gatcgtggag attactattt ggaaggctac agagacaatg cttacaaaga
      361 cttagcctgg aagcatggaa acatccactt gtcagcacct tgcatttatt ctgaagttat
      421 ggaagcattg aaacttcaac caggattgtc ttttcttaac ctgggaagtg gaaccggata
      481 tttaagtaca atggtgggct taattttagg tccttttgga ataaatcatg ggattgagct
      541 tcattcagat gtggtggaat atgccaagga aaaactggag agcttcatca aaaatagtga
      601 tagctttgat aaatttgagt tctgtgaacc tgcatttgtt gttggtaatt gcctccagat
      661 agcttctgac agtcatcagt atgatcgaat ttattgtgga gctggagtgc agaaagacca
      721 tgaaaactac atgaaaatat tactaaaagt tggaggcata ttagtcatgc ctatagagga
      781 tcagttaaca cagattatgc gaactggaca gaacacttgg gaaagtaaaa atatccttgc
      841 tgtttcattt gctccacttg tgcaaccaag taagaatgat aatggcaaac cagattctgt
      901 gggactccct ccctgtgctg tcaggaatct acaggacttg gctcgtattt acattcgacg
      961 cacacttaga aatttcataa atgatgagat gcaggccaag gggattcctc aaagggctcc
     1021 acccaaaagg aaaagaaaga gagttaaaca gagaattaac acttacgtat ttgtgggtaa
     1081 tcagcttatt cctcagcctc tagacagtga agaggatgaa aaaatggaag aggataacaa
     1141 agaagaggag gaaaaagatc acaatgaagc aatgaagcca gaggagccac ctcaaaattt
     1201 actgagagaa aaaatcatga agctgcccct ccctgaatct ttaaaagctt acttgacata
     1261 ttttagagac aaataactta gatcaagaag aaaaatgcct actgataatt cctttagtct
     1321 tgaaaatgta gcatttgtta ggagttaaaa gagagaatta tttctttcat cagagcaaat
     1381 tatagtggaa aaaaaatcac ttgtttctgt cagtaacaca aatgatgtat tcagtgaata
     1441 aaagaatccc ttttataaaa tctatttttc tttaaatctt ggaaaaatgt tgttttagct
     1501 cagagtgatt tcaaagtgga atgcaacagt agtcaagact tgtgtactat aaatcctttt
     1561 ctgattcctt acagatttgt agtgatgagg tttagattta attttatata tggtttaaat
     1621 aattgttaag cttatataac ctgatctgaa ttgcagttgt ttgcatttcc tctatgaaaa
     1681 cttcatttat ctaataagga agtcaaatgc tttgtagact atttacctta cttttgttgc
     1741 aatcactgtt gttgggttgc tgtatatata ttccgggcaa tatatgagtg caataacaat
     1801 acaagatatt gaataattta gctttaaaaa atcccacaaa ttttatgaaa ttttacagcc
     1861 ctgctacttt tgcttttgaa tctcttgcca aaagacatgg gtaaaatatc tgcctctctc
     1921 atagagattt taagagcaca gcaagtgaat tattaaaaca aagtctatac ttaatacaac
     1981 tctttatatg gaccctttac attttcagta tttaaaaaaa tgaggttatc ttaactctat
     2041 agaattttaa aagtatattt agaattgttt tttctgtagt tcactgtata aagtatttgg
     2101 ttttttaaaa aaagcaaaac cattgttatg tgtgactctt gataggacac agaacgagtg
     2161 aatgagcatg agtgaggcca ctttcttgga tggctgtaag tagcagggcc agggtagacc
     2221 tggtcagcgg atgcacttta gcagatggaa cttctagttt atctgaatat ttatctttga
     2281 caaggtaggg ctgagcctac atttgctttt gatctatcta gtataagaaa tattcacaga
     2341 aattgtatgt agataccctt tgttttgaaa atgctgttca gaatcatagt gtaatctttg
     2401 ggacctatgc catgttcatt tcactccttc ccatattttt tgtgtttctt ttggtaaaac
     2461 tataatggtt ttcatttttt acttaatatc acacagttaa actgtccata tttgagcttt
     2521 attttagctt atcagtgata aaaaacaggt agtaactgcc attgtttgtt tgttttccta
     2581 ataaggcctg aaaacagcca ttccttgtta agaaagtgta caatgtaaca tatttgctag
     2641 agttacatgg attatatatt tcttaaaggg aaaaatttga gagtatcatg gactaccacc
     2701 agcattatta ttacagtagt tactcagatt tggttaagga agcccaagca atgtatagtg
     2761 aaaggattat tatctctctg ctaagattca gatattgttt cagaaatctc agctccagta
     2821 attccacaac atctaaaaac aaatgtttgt gatcatgtgt aagcatgaaa ttgttccaag
     2881 taagtgagga tattttagtt atgtgaaaga cagtttcatg gaaggtattt gttttatacc
     2941 agtggctggg atggtggaat tggggttatt tctacaatta ttcttagacg attactaaac
     3001 tgttaagaaa tgccccatat catttttgta tctaggaaag aaaaaaatca gtttcatact
     3061 gttgtcatct gtcagaaatg ctcattttat tttgaattaa atgtggcttt tgaagtacct
     3121 agttaccttg aattcctggt gaccacatgt ttttatctgg aaaacctgga gaaagttatc
     3181 tgtcccatct cccctgcttg tttttttttt tttttttggt tggagctgct gtttagatga
     3241 tgcttttact atgcaggaga gagtttttgt taaggatata tttgaagatt ggcttttcca
     3301 tattgtcctt cattctttga ccatggcaaa gtgtacagta gattttcatg atcattgcat
     3361 atttcttgtc attgaaatgt atcttttatg tttttaaatg cattcatttt acacttgtga
     3421 gtttatcatt gactttaaga ggtagaaatg aaaaatgaaa attaaagcta aagccttttt
     3481 atctattaat gcagatatat tagaataaga atattttggg tttgtgttta ttttttaatg
     3541 aatttatgtt tacttgatat ggaaaattac gctttatagg tggaaaagta gcaaataaag
     3601 attaagtaaa agtaagtgaa aatgatgggg aatatagtat tggaatttta tagctagtta
     3661 aaacagtaag tatcatctaa tttgggtgtt tattttgcag atgagaaaac agacctagaa
     3721 ccgtggcatg ttttgcctga aacatacagt gagttagaga cagggcctaa gatagcttct
     3781 agcatcagat caatcccaag aatccatcag caacctcaga ccaacccaag aagataattt
     3841 aaatctatac tgcttattgg tcaatatatt tggttctagt attaataaag aaaaatgtta
     3901 ttaaaatagc atacatagta gtaaaataaa atacaaaaag tgtgttgatt tatagctgtt
     3961 tgagatgata aaagtgaagc aaagcctgtt aaatcattgg aagacttgga aaattatttt
     4021 aaataaacaa ttacatgtaa ttaa
//
