LOCUS       NM_152491               2164 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens peptidase M20 domain containing 1 (PM20D1), transcript
            variant 1, mRNA.
ACCESSION   NM_152491 XM_941220
VERSION     NM_152491.5
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 2164)
  AUTHORS   Huang,X., He,P. and Wu,L.
  TITLE     Clinical Significance of Peptidase M20 Domain Containing 1 Ii
            Patients with Carotid Atherosclerosis
  JOURNAL   Arq Bras Cardiol 119 (3), 372-379 (2022)
   PUBMED   35544855
  REMARK    GeneRIF: Clinical Significance of Peptidase M20 Domain Containing 1
            Ii Patients with Carotid Atherosclerosis.', trans 'Significado
            Clinico do Dominio da Peptidase M20 Contendo 1 em Pacientes com
            Aterosclerose Carotidea.
REFERENCE   2  (bases 1 to 2164)
  AUTHORS   Yang,R., Hu,Y., Lee,C.H., Liu,Y., Diaz-Canestro,C., Fong,C.H.Y.,
            Lin,H., Cheng,K.K.Y., Pravelil,A.P., Song,E., Lam,K.S.L. and Xu,A.
  TITLE     PM20D1 is a circulating biomarker closely associated with obesity,
            insulin resistance and metabolic syndrome
  JOURNAL   Eur J Endocrinol 186 (2), 151-161 (2021)
   PUBMED   34757919
  REMARK    GeneRIF: PM20D1 is a circulating biomarker closely associated with
            obesity, insulin resistance and metabolic syndrome.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2164)
  AUTHORS   Wang,Q., Chen,Y., Readhead,B., Chen,K., Su,Y., Reiman,E.M. and
            Dudley,J.T.
  TITLE     Longitudinal data in peripheral blood confirm that PM20D1 is a
            quantitative trait locus (QTL) for Alzheimer's disease and
            implicate its dynamic role in disease progression
  JOURNAL   Clin Epigenetics 12 (1), 189 (2020)
   PUBMED   33298155
  REMARK    GeneRIF: Longitudinal data in peripheral blood confirm that PM20D1
            is a quantitative trait locus (QTL) for Alzheimer's disease and
            implicate its dynamic role in disease progression.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2164)
  AUTHORS   Kim,J.T., Terrell,S.M., Li,V.L., Wei,W., Fischer,C.R. and Long,J.Z.
  TITLE     Cooperative enzymatic control of N-acyl amino acids by PM20D1 and
            FAAH
  JOURNAL   Elife 9, e55211 (2020)
   PUBMED   32271712
  REMARK    GeneRIF: Cooperative enzymatic control of N-acyl amino acids by
            PM20D1 and FAAH.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2164)
  AUTHORS   Sanchez-Mut,J.V., Glauser,L., Monk,D. and Graff,J.
  TITLE     Comprehensive analysis of PM20D1 QTL in Alzheimer's disease
  JOURNAL   Clin Epigenetics 12 (1), 20 (2020)
   PUBMED   32014019
  REMARK    GeneRIF: Comprehensive analysis of PM20D1 QTL in Alzheimer's
            disease.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2164)
  AUTHORS   Sun,J., Tao,S., Gao,Y., Peng,T., Tan,A., Zhang,H., Yang,X., Qin,X.,
            Hu,Y., Feng,J., Kim,S.T., Lin,X., Wu,Y., Zhang,J., Li,Z., Li,L.,
            Mo,L., Liang,Z., Shi,D., Huang,Z., Huang,X., Liu,M., Liu,Q.,
            Zhang,S., Lilly Zheng,S., Xu,J. and Mo,Z.
  TITLE     Genome-wide association study identified novel genetic variant on
            SLC45A3 gene associated with serum levels prostate-specific antigen
            (PSA) in a Chinese population
  JOURNAL   Hum Genet 132 (4), 423-429 (2013)
   PUBMED   23269536
REFERENCE   7  (bases 1 to 2164)
  AUTHORS   Yan,Y.P., Mo,X.Y., Tian,J., Zhao,G.H., Yin,X.Z., Jin,F.Y. and
            Zhang,B.R.
  TITLE     An association between the PARK16 locus and Parkinson's disease in
            a cohort from eastern China
  JOURNAL   Parkinsonism Relat Disord 17 (10), 737-739 (2011)
   PUBMED   21840748
REFERENCE   8  (bases 1 to 2164)
  AUTHORS   Satake,W., Nakabayashi,Y., Mizuta,I., Hirota,Y., Ito,C., Kubo,M.,
            Kawaguchi,T., Tsunoda,T., Watanabe,M., Takeda,A., Tomiyama,H.,
            Nakashima,K., Hasegawa,K., Obata,F., Yoshikawa,T., Kawakami,H.,
            Sakoda,S., Yamamoto,M., Hattori,N., Murata,M., Nakamura,Y. and
            Toda,T.
  TITLE     Genome-wide association study identifies common variants at four
            loci as genetic risk factors for Parkinson's disease
  JOURNAL   Nat Genet 41 (12), 1303-1307 (2009)
   PUBMED   19915576
REFERENCE   9  (bases 1 to 2164)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   10 (bases 1 to 2164)
  AUTHORS   Brass,A.L., Dykxhoorn,D.M., Benita,Y., Yan,N., Engelman,A.,
            Xavier,R.J., Lieberman,J. and Elledge,S.J.
  TITLE     Identification of host proteins required for HIV infection through
            a functional genomic screen
  JOURNAL   Science 319 (5865), 921-926 (2008)
   PUBMED   18187620
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA387977.1, BC063477.1, AC119673.3 and BM987801.1.
            
            On Nov 22, 2018 this sequence version replaced NM_152491.4.
            
            Transcript Variant: This variant (1) encodes the supported protein.
            
            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 :: AK290786.1, BC063477.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367136.5/ ENSP00000356104.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                DA387977.1         17-31
            16-504              BC063477.1         1-489
            505-517             AC119673.3         172136-172148       c
            518-2158            BC063477.1         503-2143
            2159-2164           BM987801.1         21-26               c
FEATURES             Location/Qualifiers
     source          1..2164
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..2164
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /note="peptidase M20 domain containing 1"
                     /db_xref="GeneID:148811"
                     /db_xref="HGNC:HGNC:26518"
                     /db_xref="MIM:617124"
     exon            1..229
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1569
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /EC_number="3.5.1.14"
                     /EC_number="3.5.1.114"
                     /note="probable carboxypeptidase PM20D1; peptidase M20
                     domain-containing protein 1; N-fatty-acyl-amino acid
                     synthase/hydrolase PM20D1"
                     /codon_start=1
                     /product="N-fatty-acyl-amino acid synthase/hydrolase
                     PM20D1 precursor"
                     /protein_id="NP_689704.4"
                     /db_xref="CCDS:CCDS1460.1"
                     /db_xref="GeneID:148811"
                     /db_xref="HGNC:HGNC:26518"
                     /db_xref="MIM:617124"
                     /translation="MAQRCVCVLALVAMLLLVFPTVSRSMGPRSGEHQRASRIPSQFS
                     KEERVAMKEALKGAIQIPTVTFSSEKSNTTALAEFGKYIHKVFPTVVSTSFIQHEVVE
                     EYSHLFTIQGSDPSLQPYLLMAHFDVVPAPEEGWEVPPFSGLERDGIIYGRGTLDDKN
                     SVMALLQALELLLIRKYIPRRSFFISLGHDEESSGTGAQRISALLQSRGVQLAFIVDE
                     GGFILDDFIPNFKKPIALIAVSEKGSMNLMLQVNMTSGHSSAPPKETSIGILAAAVSR
                     LEQTPMPIIFGSGTVVTVLQQLANEFPFPVNIILSNPWLFEPLISRFMERNPLTNAII
                     RTTTALTIFKAGVKFNVIPPVAQATVNFRIHPGQTVQEVLELTKNIVADNRVQFHVLS
                     AFDPLPVSPSDDKALGYQLLRQTVQSVFPEVNITAPVTSIGNTDSRFFTNLTTGIYRF
                     YPIYIQPEDFKRIHGVNEKISVQAYETQVKFIFELIQNADTDQEPVSHLHKL"
     exon            230..316
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /inference="alignment:Splign:2.1.0"
     exon            317..549
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /inference="alignment:Splign:2.1.0"
     exon            550..636
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /inference="alignment:Splign:2.1.0"
     exon            637..767
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /inference="alignment:Splign:2.1.0"
     exon            768..887
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /inference="alignment:Splign:2.1.0"
     exon            888..963
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1025
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1104
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1176
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /inference="alignment:Splign:2.1.0"
     exon            1177..1345
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1445
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /inference="alignment:Splign:2.1.0"
     exon            1446..2164
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2144..2149
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /note="hexamer: AATAAA"
     polyA_site      2164
                     /gene="PM20D1"
                     /gene_synonym="Cps1"
                     /note="major polyA site"
ORIGIN      
        1 agtctgggcg tttaggtcag aactaccccg gtagcctgac agcaggagct cgagagaagc
       61 atggctcagc ggtgcgtttg cgtgctggcc ctggtggcta tgctgctcct agttttccct
      121 accgtctcca gatcgatggg cccgaggagc ggggagcatc aaagggcgtc gcgaatccct
      181 tctcagttca gcaaagagga acgcgtcgcg atgaaagagg cgctgaaagg tgccatccag
      241 attccaacag tgacttttag ctctgagaag tccaatacta cagccctggc tgagttcgga
      301 aaatacattc ataaagtctt tcctacagtg gtcagcacca gctttatcca gcatgaagtc
      361 gtggaagagt atagccacct gttcactatc caaggctcgg accccagctt gcagccctac
      421 ctgctgatgg ctcactttga tgtggtgcct gcccctgaag aaggctggga ggtgccccca
      481 ttctctgggt tggagcgtga tggcatcatc tatggtcggg gcacactgga cgacaagaac
      541 tctgtgatgg cattactgca ggccttggag ctcctgctga tcaggaagta catcccccga
      601 agatctttct tcatttctct gggccatgat gaggagtcat cagggacagg ggctcagagg
      661 atctcagccc tgctacagtc aaggggcgtc cagctagcct tcattgtgga cgaggggggc
      721 ttcatcttgg atgatttcat tcctaacttc aagaagccca tcgccttgat tgcagtctca
      781 gagaagggtt ccatgaacct catgctgcaa gtaaacatga cttcaggcca ctcttcagct
      841 cctccaaagg agacaagcat tggcatcctt gcagctgctg tcagccgatt ggagcagaca
      901 ccaatgccta tcatatttgg aagcgggaca gtggtgactg tattgcagca actggcaaat
      961 gagtttccct tccctgtcaa tataatcctg agcaacccat ggctatttga accacttata
     1021 agcaggttta tggagagaaa tcccttaacc aatgcaataa tcaggaccac cacggcactc
     1081 accatattca aagcaggggt caagttcaat gtcatccccc cagtggccca ggccacagtc
     1141 aacttccgga ttcaccctgg acagacagtc caagaggtcc tagaactcac gaagaacatt
     1201 gtggctgata acagagtcca gttccatgtg ttgagtgcct ttgaccccct ccccgtcagc
     1261 ccttctgatg acaaggcctt gggctaccag ctgctccgcc agaccgtaca gtccgtcttc
     1321 ccggaagtca atattactgc cccagttact tctattggca acacagacag ccgattcttt
     1381 acaaacctca ccactggcat ctacaggttc taccccatct acatacagcc tgaagacttc
     1441 aaacgcatcc atggagtcaa cgagaaaatc tcagtccaag cctatgagac ccaagtgaaa
     1501 ttcatctttg agttgattca gaatgctgac acagaccagg agccagtttc tcacctgcac
     1561 aaactgtgag gtcaaggggc ctgctgggtt aggcatgccc gaccccggga caggactaac
     1621 ccaaggggga aagctagtgt tgatgaaact tttgatcaaa accacattgt aaaacattgc
     1681 ccatctgtct tgctcactct taaactctcc caagaacaag gccggggtaa ggtaaagtca
     1741 gcagaaatct ggcttctccc ttcctcccga catctgcatc ccttgatcca ctggcatttg
     1801 ctgccctctt gtcccttatc tgtcttatgc tggttatttc actgcttcac cttccaggct
     1861 tgacttaaca aatgtagatt tgagaaatct caaccagttg ttacctgata ggagtcttta
     1921 atttagggca ctcttgctgg gatgctttct ccagagctta tatatttctt cttactagaa
     1981 ctttcttccc ccttttattc ccctctcttc ttggactcat gagctgtctc ttcatctctc
     2041 ctctctctcc tgcatctctc cccttactct tcaatttatt ctacttctgg acctggactt
     2101 acccaaactg tgatactacc ataattgtca ccataatcag tcaaataaag tgatctgtgc
     2161 atca
//
