LOCUS       NM_080385               1985 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 1,
            mRNA.
ACCESSION   NM_080385
VERSION     NM_080385.5
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 1985)
  AUTHORS   Bentley,L., Nakabayashi,K., Monk,D., Beechey,C., Peters,J.,
            Birjandi,Z., Khayat,F.E., Patel,M., Preece,M.A., Stanier,P.,
            Scherer,S.W. and Moore,G.E.
  TITLE     The imprinted region on human chromosome 7q32 extends to the
            carboxypeptidase A gene cluster: an imprinted candidate for
            Silver-Russell syndrome
  JOURNAL   J Med Genet 40 (4), 249-256 (2003)
   PUBMED   12676894
  REMARK    Erratum:[J Med Genet. 2004 Aug;41(8):640]
REFERENCE   2  (bases 1 to 1985)
  AUTHORS   Wei,S., Segura,S., Vendrell,J., Aviles,F.X., Lanoue,E., Day,R.,
            Feng,Y. and Fricker,L.D.
  TITLE     Identification and characterization of three members of the human
            metallocarboxypeptidase gene family
  JOURNAL   J Biol Chem 277 (17), 14954-14964 (2002)
   PUBMED   11836249
REFERENCE   3  (bases 1 to 1985)
  AUTHORS   Bonora,E., Bacchelli,E., Levy,E.R., Blasi,F., Marlow,A.,
            Monaco,A.P. and Maestrini,E.
  CONSRTM   International Molecular Genetic Study of Autism Consortium (IMGSAC)
  TITLE     Mutation screening and imprinting analysis of four candidate genes
            for autism in the 7q32 region
  JOURNAL   Mol Psychiatry 7 (3), 289-301 (2002)
   PUBMED   11920156
  REMARK    GeneRIF: mutation screening and imprinting analysis of candidate
            genes for autism in the 7q12 region.
REFERENCE   4  (bases 1 to 1985)
  AUTHORS   .
  TITLE     A full genome screen for autism with evidence for linkage to a
            region on chromosome 7q. International Molecular Genetic Study of
            Autism Consortium
  JOURNAL   Hum Mol Genet 7 (3), 571-578 (1998)
   PUBMED   9546821
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BK000187.1 and BC053681.1.
            
            On Apr 29, 2019 this sequence version replaced NM_080385.4.
            
            Summary: Carboxypeptidases have functions ranging from digestion of
            food to selective biosynthesis of neuroendocrine peptides. Members
            of the A/B subfamily of carboxypeptidases, such as CPA5, contain an
            approximately 90-amino acid pro region that assists in the folding
            of the active carboxypeptidase domain. Cleavage of the pro region
            activates the enzyme (Wei et al., 2002 [PubMed 11836249]).[supplied
            by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) encodes isoform (1). Variants
            1, 2, and 4 encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC053681.1, AY155229.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000474905.6/ ENSP00000417314.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                BK000187.1         20-44
            26-1113             BC053681.1         1-1088
            1114-1889           BK000187.1         1133-1908
            1890-1985           BC053681.1         1865-1960
FEATURES             Location/Qualifiers
     source          1..1985
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.2"
     gene            1..1985
                     /gene="CPA5"
                     /note="carboxypeptidase A5"
                     /db_xref="GeneID:93979"
                     /db_xref="HGNC:HGNC:15722"
                     /db_xref="MIM:609561"
     exon            1..390
                     /gene="CPA5"
                     /inference="alignment:Splign:2.1.0"
     exon            391..448
                     /gene="CPA5"
                     /inference="alignment:Splign:2.1.0"
     exon            449..657
                     /gene="CPA5"
                     /inference="alignment:Splign:2.1.0"
     CDS             542..1852
                     /gene="CPA5"
                     /EC_number="3.4.17.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; testicular tissue protein Li 32"
                     /codon_start=1
                     /product="carboxypeptidase A5 isoform 1 precursor"
                     /protein_id="NP_525124.3"
                     /db_xref="CCDS:CCDS5819.1"
                     /db_xref="GeneID:93979"
                     /db_xref="HGNC:HGNC:15722"
                     /db_xref="MIM:609561"
                     /translation="MQGTPGGGTRPGPSPVDRRTLLVFSFILAAALGQMNFTGDQVLR
                     VLAKDEKQLSLLGDLEGLKPQKVDFWRGPARPSLPVDMRVPFSELKDIKAYLESHGLA
                     YSIMIKDIQVLLDEERQAMAKSRRLERSTNSFSYSSYHTLEEIYSWIDNFVMEHSDIV
                     SKIQIGNSFENQSILVLKFSTGGSRHPAIWIDTGIHSREWITHATGIWTANKIVSDYG
                     KDRVLTDILNAMDIFIELVTNPDGFAFTHSMNRLWRKNKSIRPGIFCIGVDLNRNWKS
                     GFGGNGSNSNPCSETYHGPSPQSEPEVAAIVNFITAHGNFKALISIHSYSQMLMYPYG
                     RLLEPVSNQRELYDLAKDAVEALYKVHGIEYIFGSISTTLYVASGITVDWAYDSGIKY
                     AFSFELRDTGQYGFLLPATQIIPTAQETWMALRTIMEHTLNHPY"
     exon            658..739
                     /gene="CPA5"
                     /inference="alignment:Splign:2.1.0"
     exon            740..874
                     /gene="CPA5"
                     /inference="alignment:Splign:2.1.0"
     exon            875..973
                     /gene="CPA5"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1075
                     /gene="CPA5"
                     /inference="alignment:Splign:2.1.0"
     exon            1076..1177
                     /gene="CPA5"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1288
                     /gene="CPA5"
                     /inference="alignment:Splign:2.1.0"
     exon            1289..1379
                     /gene="CPA5"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1579
                     /gene="CPA5"
                     /inference="alignment:Splign:2.1.0"
     exon            1580..1664
                     /gene="CPA5"
                     /inference="alignment:Splign:2.1.0"
     exon            1665..1985
                     /gene="CPA5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1963..1968
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPA5"
                     /note="hexamer: AATAAA"
     polyA_site      1985
                     /gene="CPA5"
                     /note="major polyA site"
ORIGIN      
        1 aactgcttct ctctctctct tttactctta ttctttctct ctcactctct ctcttttccc
       61 acccttaagc caagtacagg gatagttgtc tcatcattgg tggcttaaaa tgatgttttt
      121 gaacaagaag acgccccatg ggtacttttg gtgactagca ctatctctgt ttttttcctt
      181 ttaaattcct gagctattgt ttagcagtac acccttttat ctccattgct actgaagctg
      241 aatgttactt gggtggaaag cataactgct ttcttttcta tgtccttaaa ccctttgata
      301 atgttactgt ttgagagtcc ctgaagccag gatactagaa gagtctggct tgtctgaaca
      361 gctgaactac gaaataatgg agtagggcag gctttaccaa gccaattcac tcaagttgtc
      421 tcatctatac cccttcaaac cctgtgaggc tgggctttcc agcctctagg tgctgtgctg
      481 tcctgaggcc tgggccatgg tgcccaagga aagcccctga agctcaccag gaggaagaag
      541 catgcagggc acccctggag gcgggacgcg ccctgggcca tcccccgtgg acaggcggac
      601 actcctggtc ttcagcttta tcctggcagc agctttgggc caaatgaatt tcacagggga
      661 ccaggttctt cgagtcctgg ccaaagatga gaagcagctt tcacttctcg gggatctgga
      721 gggcctgaaa ccccagaagg tggacttctg gcgtggccca gccaggccca gcctccctgt
      781 ggatatgaga gttcctttct ctgaactgaa agacatcaaa gcttatctgg agtctcatgg
      841 acttgcttac agcatcatga taaaggacat ccaggtgctg ctggatgagg aaagacaggc
      901 catggcgaaa tcccgccggc tggagcgcag caccaacagc ttcagttact catcatacca
      961 caccctggag gagatatata gctggattga caactttgta atggagcatt ccgatattgt
     1021 ctcaaaaatt cagattggca acagctttga aaaccagtcc attcttgtcc tgaagttcag
     1081 cactggaggt tctcggcacc cagccatctg gattgacact ggaattcact cccgggagtg
     1141 gatcacccat gccaccggca tctggactgc caataagatt gtcagtgatt atggcaaaga
     1201 ccgtgtcctg acagacatac tgaatgccat ggacatcttc atagagctcg tcacaaaccc
     1261 tgatgggttt gcttttaccc acagcatgaa ccgcttatgg cggaagaaca agtccatcag
     1321 acctggaatc ttctgcatcg gcgtggatct caacaggaac tggaagtcgg gttttggagg
     1381 aaatggttct aacagcaacc cctgctcaga aacttatcac gggccctccc ctcagtcgga
     1441 gccggaggtg gctgccatag tgaacttcat cacagcccat ggcaacttca aggctctgat
     1501 ctccatccac agctactctc agatgcttat gtacccttac ggccgattgc tggagcccgt
     1561 ttcaaatcag agggagttgt acgatcttgc caaggatgcg gtggaggcct tgtataaggt
     1621 ccatgggatc gagtacattt ttggcagcat cagcaccacc ctctatgtgg ccagtgggat
     1681 caccgtcgac tgggcctatg acagtggcat caagtacgcc ttcagctttg agctccggga
     1741 cactgggcag tatggcttcc tgctgccggc cacacagatc atccccacgg cccaggagac
     1801 gtggatggcg cttcggacca tcatggagca caccctgaat cacccctact agcagcacga
     1861 ctgagggcag gaggctccat ccttctcccc aaggtctgtg gctcctcccg aaacccaagt
     1921 tatgcatccc catccccatg ccctcatccc gacctcttag aaaataaata caagtttgaa
     1981 caggc
//
