LOCUS       NP_057218                472 aa            linear   PRI 28-APR-2025
DEFINITION  carboxypeptidase Q preproprotein [Homo sapiens].
ACCESSION   NP_057218 NP_006093
VERSION     NP_057218.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 472)
  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  (residues 1 to 472)
  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  (residues 1 to 472)
  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  (residues 1 to 472)
  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  (residues 1 to 472)
  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  (residues 1 to 472)
  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  (residues 1 to 472)
  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  (residues 1 to 472)
  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  (residues 1 to 472)
  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 (residues 1 to 472)
  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 4, 2002 this sequence version replaced NP_006093.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..472
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1"
     Protein         1..472
                     /product="carboxypeptidase Q preproprotein"
                     /EC_number="3.4.17.-"
                     /note="aminopeptidase; blood plasma glutamate
                     carboxypeptidase; Ser-Met dipeptidase; lysosomal
                     dipeptidase"
                     /calculated_mol_wt=49718
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=2188
     proprotein      21..472
                     /product="carboxypeptidase Q proprotein"
                     /calculated_mol_wt=49718
     Region          42..449
                     /region_name="M28_Pgcp_like"
                     /note="M28 Zn-Peptidase Plasma glutamate carboxypeptidase;
                     cd03883"
                     /db_xref="CDD:349879"
     mat_peptide     45..472
                     /product="Carboxypeptidase Q. /id=PRO_5000055942"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y646.1)"
                     /calculated_mol_wt=47081
     Site            61
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y646.1)"
     Site            179
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q9Y646.1)"
     Site            353
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (Q9Y646.1)"
     Site            356
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952; propagated from
                     UniProtKB/Swiss-Prot (Q9Y646.1)"
     Site            396
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Y646.1)"
     CDS             1..472
                     /gene="CPQ"
                     /gene_synonym="LDP; PGCP"
                     /coded_by="NM_016134.4:196..1614"
                     /db_xref="CCDS:CCDS6273.1"
                     /db_xref="GeneID:10404"
                     /db_xref="HGNC:HGNC:16910"
                     /db_xref="MIM:618754"
ORIGIN      
        1 mkflifaffg gvhllslcsg kaickngisk rtfeeikeei ascgdvakai inlavygkaq
       61 nrsyerlall vdtvgprlsg sknlekaiqi myqnlqqdgl ekvhlepvri phwergeesa
      121 vmleprihki ailglgssig tppegitaev lvvtsfdelq rraseargki vvynqpyiny
      181 srtvqyrtqg aveaakvgal aslirsvasf siysphtgiq eyqdgvpkip tacitvedae
      241 mmsrmashgi kiviqlkmga ktypdtdsfn tvaeitgsky peqvvlvsgh ldswdvgqga
      301 mddgggafis wealslikdl glrpkrtlrl vlwtaeeqgg vgafqyyqlh kvnisnyslv
      361 mesdagtflp tglqftgsek araimeevms llqplnitqv lshgegtdin fwiqagvpga
      421 sllddlykyf ffhhshgdtm tvmdpkqmnv aaavwavvsy vvadmeemlp rs
//
