LOCUS       NM_016134               1932 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens carboxypeptidase Q (CPQ), mRNA.
ACCESSION   NM_016134 NM_006102
VERSION     NM_016134.4
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 1932)
  AUTHORS   Gao,C., Xing,X., He,Z., Chen,S., Wang,S., Li,Q., Guo,P., Zhang,H.,
            Li,H., Chen,L., Wang,Q., Zhao,J., Xiao,Y., Chen,W. and Li,D.
  TITLE     Hypermethylation of PGCP gene is associated with human bronchial
            epithelial cells immortalization
  JOURNAL   Gene 642, 505-512 (2018)
   PUBMED   29196255
  REMARK    GeneRIF: Data provide evidence that PGCP promoter hypermethylation
            is associated with human bronchial epithelial cells immortalization
            and lung cancer.
REFERENCE   2  (bases 1 to 1932)
  AUTHORS   Lee,J.H., Cho,H.S., Lee,J.J., Jun,S.Y., Ahn,J.H., Min,J.S.,
            Yoon,J.Y., Choi,M.H., Jeon,S.J., Lim,J.H., Jung,C.R., Kim,D.S.,
            Kim,H.T., Factor,V.M., Lee,Y.H., Thorgeirsson,S.S., Kim,C.H. and
            Kim,N.S.
  TITLE     Plasma glutamate carboxypeptidase is a negative regulator in liver
            cancer metastasis
  JOURNAL   Oncotarget 7 (48), 79774-79786 (2016)
   PUBMED   27806330
  REMARK    GeneRIF: PGCP negatively associates with Wnt/beta-catenin signaling
            during metastasis. Targeting this regulation may represent a novel
            and effective therapeutic option for liver cancer by preventing
            metastatic activity of primary tumor cells.
REFERENCE   3  (bases 1 to 1932)
  AUTHORS   Renteria,M.E., Coolen,M.W., Statham,A.L., Choi,R.S., Qu,W.,
            Campbell,M.J., Smith,S., Henders,A.K., Montgomery,G.W., Clark,S.J.,
            Martin,N.G. and Medland,S.E.
  TITLE     GWAS of DNA methylation variation within imprinting control regions
            suggests parent-of-origin association
  JOURNAL   Twin Res Hum Genet 16 (4), 767-781 (2013)
   PUBMED   23725790
REFERENCE   4  (bases 1 to 1932)
  AUTHORS   Byrne,E.M., Gehrman,P.R., Medland,S.E., Nyholt,D.R., Heath,A.C.,
            Madden,P.A., Hickie,I.B., Van Duijn,C.M., Henders,A.K.,
            Montgomery,G.W., Martin,N.G. and Wray,N.R.
  CONSRTM   Chronogen Consortium
  TITLE     A genome-wide association study of sleep habits and insomnia
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 162B (5), 439-451 (2013)
   PUBMED   23728906
REFERENCE   5  (bases 1 to 1932)
  AUTHORS   Anttila,V., Stefansson,H., Kallela,M., Todt,U., Terwindt,G.M.,
            Calafato,M.S., Nyholt,D.R., Dimas,A.S., Freilinger,T.,
            Muller-Myhsok,B., Artto,V., Inouye,M., Alakurtti,K., Kaunisto,M.A.,
            Hamalainen,E., de Vries,B., Stam,A.H., Weller,C.M., Heinze,A.,
            Heinze-Kuhn,K., Goebel,I., Borck,G., Gobel,H., Steinberg,S.,
            Wolf,C., Bjornsson,A., Gudmundsson,G., Kirchmann,M., Hauge,A.,
            Werge,T., Schoenen,J., Eriksson,J.G., Hagen,K., Stovner,L.,
            Wichmann,H.E., Meitinger,T., Alexander,M., Moebus,S., Schreiber,S.,
            Aulchenko,Y.S., Breteler,M.M., Uitterlinden,A.G., Hofman,A., van
            Duijn,C.M., Tikka-Kleemola,P., Vepsalainen,S., Lucae,S., Tozzi,F.,
            Muglia,P., Barrett,J., Kaprio,J., Farkkila,M., Peltonen,L.,
            Stefansson,K., Zwart,J.A., Ferrari,M.D., Olesen,J., Daly,M.,
            Wessman,M., van den Maagdenberg,A.M., Dichgans,M., Kubisch,C.,
            Dermitzakis,E.T., Frants,R.R. and Palotie,A.
  CONSRTM   International Headache Genetics Consortium
  TITLE     Genome-wide association study of migraine implicates a common
            susceptibility variant on 8q22.1
  JOURNAL   Nat Genet 42 (10), 869-873 (2010)
   PUBMED   20802479
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   6  (bases 1 to 1932)
  AUTHORS   Joslyn,G., Ravindranathan,A., Brush,G., Schuckit,M. and White,R.L.
  TITLE     Human variation in alcohol response is influenced by variation in
            neuronal signaling genes
  JOURNAL   Alcohol Clin Exp Res 34 (5), 800-812 (2010)
   PUBMED   20201926
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 1932)
  AUTHORS   Dolenc,I., Pain,R. and Turk,V.
  TITLE     Presence of the propeptide on recombinant lysosomal dipeptidase
            controls both activation and dimerization
  JOURNAL   Biol Chem 388 (1), 47-51 (2007)
   PUBMED   17214548
REFERENCE   8  (bases 1 to 1932)
  AUTHORS   Smith,M.W., Yue,Z.N., Geiss,G.K., Sadovnikova,N.Y., Carter,V.S.,
            Boix,L., Lazaro,C.A., Rosenberg,G.B., Bumgarner,R.E., Fausto,N.,
            Bruix,J. and Katze,M.G.
  TITLE     Identification of novel tumor markers in hepatitis C
            virus-associated hepatocellular carcinoma
  JOURNAL   Cancer Res 63 (4), 859-864 (2003)
   PUBMED   12591738
REFERENCE   9  (bases 1 to 1932)
  AUTHORS   Dolenc,I. and Mihelic,M.
  TITLE     Purification and primary structure determination of human lysosomal
            dipeptidase
  JOURNAL   Biol Chem 384 (2), 317-320 (2003)
   PUBMED   12675526
REFERENCE   10 (bases 1 to 1932)
  AUTHORS   Gingras,R., Richard,C., El-Alfy,M., Morales,C.R., Potier,M. and
            Pshezhetsky,A.V.
  TITLE     Purification, cDNA cloning, and expression of a new human blood
            plasma glutamate carboxypeptidase homologous to
            N-acetyl-aspartyl-alpha-glutamate
            carboxypeptidase/prostate-specific membrane antigen
  JOURNAL   J Biol Chem 274 (17), 11742-11750 (1999)
   PUBMED   10206990
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA699663.1, AK315447.1 and
            AA492294.1.
            
            On Nov 23, 2018 this sequence version replaced NM_016134.3.
            
            Summary: This gene encodes a metallopeptidase that belongs to the
            peptidase M28 family. The encoded protein may catalyze the cleavage
            of dipeptides with unsubstituted terminals into amino acids.
            [provided by RefSeq, Jul 2013].
            
            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 :: SRR3476690.988663.1,
                                           SRR3476690.1004497.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000220763.10/ ENSP00000220763.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-68                DA699663.1         16-83
            69-1614             AK315447.1         1-1546
            1615-1932           AA492294.1         41-358
FEATURES             Location/Qualifiers
     source          1..1932
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1"
     gene            1..1932
                     /gene="CPQ"
                     /gene_synonym="LDP; PGCP"
                     /note="carboxypeptidase Q"
                     /db_xref="GeneID:10404"
                     /db_xref="HGNC:HGNC:16910"
                     /db_xref="MIM:618754"
     exon            1..161
                     /gene="CPQ"
                     /gene_synonym="LDP; PGCP"
                     /inference="alignment:Splign:2.1.0"
     exon            162..628
                     /gene="CPQ"
                     /gene_synonym="LDP; PGCP"
                     /inference="alignment:Splign:2.1.0"
     CDS             196..1614
                     /gene="CPQ"
                     /gene_synonym="LDP; PGCP"
                     /EC_number="3.4.17.-"
                     /note="aminopeptidase; blood plasma glutamate
                     carboxypeptidase; Ser-Met dipeptidase; lysosomal
                     dipeptidase"
                     /codon_start=1
                     /product="carboxypeptidase Q preproprotein"
                     /protein_id="NP_057218.1"
                     /db_xref="CCDS:CCDS6273.1"
                     /db_xref="GeneID:10404"
                     /db_xref="HGNC:HGNC:16910"
                     /db_xref="MIM:618754"
                     /translation="MKFLIFAFFGGVHLLSLCSGKAICKNGISKRTFEEIKEEIASCG
                     DVAKAIINLAVYGKAQNRSYERLALLVDTVGPRLSGSKNLEKAIQIMYQNLQQDGLEK
                     VHLEPVRIPHWERGEESAVMLEPRIHKIAILGLGSSIGTPPEGITAEVLVVTSFDELQ
                     RRASEARGKIVVYNQPYINYSRTVQYRTQGAVEAAKVGALASLIRSVASFSIYSPHTG
                     IQEYQDGVPKIPTACITVEDAEMMSRMASHGIKIVIQLKMGAKTYPDTDSFNTVAEIT
                     GSKYPEQVVLVSGHLDSWDVGQGAMDDGGGAFISWEALSLIKDLGLRPKRTLRLVLWT
                     AEEQGGVGAFQYYQLHKVNISNYSLVMESDAGTFLPTGLQFTGSEKARAIMEEVMSLL
                     QPLNITQVLSHGEGTDINFWIQAGVPGASLLDDLYKYFFFHHSHGDTMTVMDPKQMNV
                     AAAVWAVVSYVVADMEEMLPRS"
     exon            629..836
                     /gene="CPQ"
                     /gene_synonym="LDP; PGCP"
                     /inference="alignment:Splign:2.1.0"
     exon            837..1044
                     /gene="CPQ"
                     /gene_synonym="LDP; PGCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..1156
                     /gene="CPQ"
                     /gene_synonym="LDP; PGCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1248
                     /gene="CPQ"
                     /gene_synonym="LDP; PGCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1249..1450
                     /gene="CPQ"
                     /gene_synonym="LDP; PGCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1451..1932
                     /gene="CPQ"
                     /gene_synonym="LDP; PGCP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1909..1914
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPQ"
                     /gene_synonym="LDP; PGCP"
                     /note="hexamer: AATAAA"
     polyA_site      1932
                     /gene="CPQ"
                     /gene_synonym="LDP; PGCP"
                     /note="major polyA site"
ORIGIN      
        1 ctctcggccc cgcggcctgg ccggcaagca gggctgcagt cacggggcgg cgcggagggc
       61 cccagcccag tcaggggtgt ggccgccgcc accgtaaggc taggccgcga gcttagtcct
      121 gggagccgcc tccgtcgccg ccgtcagagc cgccctatca gattatctta acaagaaaac
      181 caactggaaa aaaaaatgaa attccttatc ttcgcatttt tcggtggtgt tcacctttta
      241 tccctgtgct ctgggaaagc tatatgcaag aatggcatct ctaagaggac ttttgaagaa
      301 ataaaagaag aaatagccag ctgtggagat gttgctaaag caatcatcaa cctagctgtt
      361 tatggtaaag cccagaacag atcctatgag cgattggcac ttctggttga tactgttgga
      421 cccagactga gtggctccaa gaacctagaa aaagccatcc aaattatgta ccaaaacctg
      481 cagcaagatg ggctggagaa agttcacctg gagccagtga gaatacccca ctgggagagg
      541 ggagaagaat cagctgtgat gctggagcca agaattcata agatagccat cctgggtctt
      601 ggcagcagca ttgggactcc tccagaaggc attacagcag aagttctggt ggtgacctct
      661 ttcgatgaac tgcagagaag ggcctcagaa gcaagaggga agattgttgt ttataaccaa
      721 ccttacatca actactcaag gacggtgcaa taccgaacgc agggggcggt ggaagctgcc
      781 aaggtggggg ctttggcatc tctcattcga tccgtggcct ccttctccat ctacagtcct
      841 cacacaggta ttcaggaata ccaggatggc gtgcccaaga ttccaacagc ctgtattacg
      901 gtggaagatg cagaaatgat gtcaagaatg gcttctcatg ggatcaaaat tgtcattcag
      961 ctaaagatgg gggcaaagac ctacccagat actgattcct tcaacactgt agcagagatc
     1021 actgggagca aatatccaga acaggttgta ctggtcagtg gacatctgga cagctgggat
     1081 gttgggcagg gtgccatgga tgatggcggt ggagccttta tatcatggga agcactctca
     1141 cttattaaag atcttgggct gcgtccaaag aggactctgc ggctggtgct ctggactgca
     1201 gaagaacaag gtggagttgg tgccttccag tattatcagt tacacaaggt aaatatttcc
     1261 aactacagtc tggtgatgga gtctgacgca ggaaccttct tacccactgg gctgcaattc
     1321 actggcagtg aaaaggccag ggccatcatg gaggaggtta tgagcctgct gcagcccctc
     1381 aatatcactc aggtcctgag ccatggagaa gggacagaca tcaacttttg gatccaagct
     1441 ggagtgcctg gagccagtct acttgatgac ttatacaagt atttcttctt ccatcactcc
     1501 cacggagaca ccatgactgt catggatcca aagcagatga atgttgctgc tgctgtttgg
     1561 gctgttgttt cttatgttgt tgcagacatg gaagaaatgc tgcctaggtc ctagaaacag
     1621 taagaaagaa acgttttcat gcttctggcc aggaatcctg ggtctgcaac tttggaaaac
     1681 tcctcttcac ataacaattt catccaattc atcttcaaag cacaactcta tttcatgctt
     1741 tctgttatta tctttcttga tactttccaa attctctgat tctagaaaaa ggaatcattc
     1801 tcccctccct cccaccacat agaatcaaca tatggtaggg attacagtgg gggcatttct
     1861 ttatatcacc tcttaaaaac attgtttcca ctttaaaagt aaacacttaa taaatttttg
     1921 gaagatctct ga
//
