LOCUS       NM_020361               2011 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens carboxypeptidase A6 (CPA6), mRNA.
ACCESSION   NM_020361
VERSION     NM_020361.5
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 2011)
  AUTHORS   Wang,X., Liu,F., Cui,Z., Li,Z. and Lv,Y.
  TITLE     Carboxypeptidase A6 suppresses the proliferation and invasion of
            colorectal cancer cells and is negatively regulated by miR-96-3p
  JOURNAL   Arch Biochem Biophys 740, 109595 (2023)
   PUBMED   37011707
  REMARK    GeneRIF: Carboxypeptidase A6 suppresses the proliferation and
            invasion of colorectal cancer cells and is negatively regulated by
            miR-96-3p.
REFERENCE   2  (bases 1 to 2011)
  AUTHORS   Wang,H., Zhang,M., Zhang,M., Wang,F., Liu,J. and Zhao,Q.
  TITLE     Carboxypeptidase A6 was identified and validated as a novel
            potential biomarker for predicting the occurrence of active
            ulcerative colitis
  JOURNAL   J Cell Mol Med 24 (15), 8803-8813 (2020)
   PUBMED   32570281
  REMARK    GeneRIF: Carboxypeptidase A6 was identified and validated as a
            novel potential biomarker for predicting the occurrence of active
            ulcerative colitis.
REFERENCE   3  (bases 1 to 2011)
  AUTHORS   Huang,Q.B., Zhang,H.W. and Liao,Z.B.
  TITLE     Carboxypeptidase A6 Promotes the Proliferation and Migration of
            Hepatocellular Carcinoma by Up-regulating AKT Signaling Pathway
  JOURNAL   Curr Med Sci 39 (5), 727-733 (2019)
   PUBMED   31612389
  REMARK    GeneRIF: CPA6 promotes the proliferation and migration of
            hepatocellular carcinoma by up-regulating AKT signaling pathway.
REFERENCE   4  (bases 1 to 2011)
  AUTHORS   Rotroff,D.M., Yee,S.W., Zhou,K., Marvel,S.W., Shah,H.S., Jack,J.R.,
            Havener,T.M., Hedderson,M.M., Kubo,M., Herman,M.A., Gao,H.,
            Mychaleckyi,J.C., McLeod,H.L., Doria,A., Giacomini,K.M.,
            Pearson,E.R., Wagner,M.J., Buse,J.B. and Motsinger-Reif,A.A.
  CONSRTM   MetGen Investigators; ACCORD/ACCORDion Investigators
  TITLE     Genetic Variants in CPA6 and PRPF31 Are Associated With Variation
            in Response to Metformin in Individuals With Type 2 Diabetes
  JOURNAL   Diabetes 67 (7), 1428-1440 (2018)
   PUBMED   29650774
  REMARK    GeneRIF: Common variants in PRPF31 and CPA6 were associated with
            worse and better metformin response, respectively.
REFERENCE   5  (bases 1 to 2011)
  AUTHORS   Lyons,P.J. and Fricker,L.D.
  TITLE     Substrate specificity of human carboxypeptidase A6
  JOURNAL   J Biol Chem 285 (49), 38234-38242 (2010)
   PUBMED   20855895
  REMARK    GeneRIF: Substrate specificity of human carboxypeptidase A6
REFERENCE   6  (bases 1 to 2011)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2011)
  AUTHORS   Sharif,S.A., Du,X., Myles,T., Song,J.J., Price,E., Lee,D.M.,
            Goodman,S.B., Nagashima,M., Morser,J., Robinson,W.H. and Leung,L.L.
  TITLE     Thrombin-activatable carboxypeptidase B cleavage of osteopontin
            regulates neutrophil survival and synoviocyte binding in rheumatoid
            arthritis
  JOURNAL   Arthritis Rheum 60 (10), 2902-2912 (2009)
   PUBMED   19790060
  REMARK    GeneRIF: Thrombin activation of osteopontin (OPN) (resulting in
            OPN-R) and its subsequent inactivation by thrombin-activatable
            carboxypeptidase B (generating OPN-L) occurs locally within
            inflamed joints in rheumatoid arthritis.
REFERENCE   8  (bases 1 to 2011)
  AUTHORS   Lyons,P.J., Callaway,M.B. and Fricker,L.D.
  TITLE     Characterization of carboxypeptidase A6, an extracellular matrix
            peptidase
  JOURNAL   J Biol Chem 283 (11), 7054-7063 (2008)
   PUBMED   18178555
  REMARK    GeneRIF: CPA6 may have a role in the regulation of neuropeptides in
            the extracellular environment within the olfactory bulb and other
            parts of the brain
REFERENCE   9  (bases 1 to 2011)
  AUTHORS   Pizzuti,A., Calabrese,G., Bozzali,M., Telvi,L., Morizio,E.,
            Guida,V., Gatta,V., Stuppia,L., Ion,A., Palka,G. and
            Dallapiccola,B.
  TITLE     A peptidase gene in chromosome 8q is disrupted by a balanced
            translocation in a duane syndrome patient
  JOURNAL   Invest Ophthalmol Vis Sci 43 (12), 3609-3612 (2002)
   PUBMED   12454025
  REMARK    GeneRIF: The CPAH gene was interrupted in a patient with DURS
            carrying a translocation break point in the DURS1 region on
            chromosome 8q13.
REFERENCE   10 (bases 1 to 2011)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI756197.1, BC033684.1,
            BK000188.1, BP421438.1 and AC011037.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_020361.4.
            
            Summary: The gene encodes a member of the peptidase M14 family of
            metallocarboxypeptidases. The encoded preproprotein is
            proteolytically processed to generate the mature enzyme, which
            catalyzes the release of large hydrophobic C-terminal amino acids.
            This enzyme has functions ranging from digestion of food to
            selective biosynthesis of neuroendocrine peptides. Mutations in
            this gene may be linked to epilepsy and febrile seizures, and a
            translocation t(6;8)(q26;q13) involving this gene has been
            associated with Duane retraction syndrome. [provided by RefSeq, May
            2016].
            
            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 :: BC033684.1, BK000188.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2152798
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297770.10/ ENSP00000297770.4
            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
            1-15                BI756197.1         27-41
            16-748              BC033684.1         1-733
            749-1545            BK000188.1         732-1528
            1546-1876           BC033684.1         1531-1861
            1877-1879           BP421438.1         422-424
            1880-2011           AC011037.9         51320-51451
FEATURES             Location/Qualifiers
     source          1..2011
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.2"
     gene            1..2011
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /note="carboxypeptidase A6"
                     /db_xref="GeneID:57094"
                     /db_xref="HGNC:HGNC:17245"
                     /db_xref="MIM:609562"
     exon            1..347
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /inference="alignment:Splign:2.1.0"
     CDS             232..1545
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /EC_number="3.4.17.1"
                     /note="carboxypeptidase B"
                     /codon_start=1
                     /product="carboxypeptidase A6 preproprotein"
                     /protein_id="NP_065094.3"
                     /db_xref="CCDS:CCDS6200.1"
                     /db_xref="GeneID:57094"
                     /db_xref="HGNC:HGNC:17245"
                     /db_xref="MIM:609562"
                     /translation="MKCLGKRRGQAAAFLPLCWLFLKILQPGHSHLYNNRYAGDKVIR
                     FIPKTEEEAYALKKISYQLKVDLWQPSSISYVSEGTVTDVHIPQNGSRALLAFLQEAN
                     IQYKVLIEDLQKTLEKGSSLHTQRNRRSLSGYNYEVYHSLEEIQNWMHHLNKTHSGLI
                     HMFSIGRSYEGRSLFILKLGRRSRLKRAVWIDCGIHAREWIGPAFCQWFVKEALLTYK
                     SDPAMRKMLNHLYFYIMPVFNVDGYHFSWTNDRFWRKTRSRNSRFRCRGVDANRNWKV
                     KWCDEGASMHPCDDTYCGPFPESEPEVKAVANFLRKHRKHIRAYLSFHAYAQMLLYPY
                     SYKYATIPNFRCVESAAYKAVNALQSVYGVRYRYGPASTTLYVSSGSSMDWAYKNGIP
                     YAFAFELRDTGYFGFLLPEMLIKPTCTETMLAVKNITMHLLKKCP"
     exon            348..423
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /inference="alignment:Splign:2.1.0"
     exon            424..548
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /inference="alignment:Splign:2.1.0"
     exon            549..663
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /inference="alignment:Splign:2.1.0"
     exon            664..765
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /inference="alignment:Splign:2.1.0"
     exon            766..867
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /inference="alignment:Splign:2.1.0"
     exon            868..978
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1069
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1272
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1357
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /inference="alignment:Splign:2.1.0"
     exon            1358..2011
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1854..1859
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /note="hexamer: AATAAA"
     polyA_site      1892
                     /gene="CPA6"
                     /gene_synonym="CPAH; ETL5; FEB11"
                     /note="major polyA site"
ORIGIN      
        1 gctgctgctg cttgtcccaa gaccaagtcg taatagcaac ttcccttcct cagctgcctg
       61 aacttttttt ttcccttgta gctggagaga agtgtcacat tttgctcact ctcaaccttc
      121 ctcgcccacc cccttcccgg agaacctgtg cggtgtgtag agggtgctgt gagccacctc
      181 cagcctcggg tggctgctta agtaactttc aactcctctc ttcttaacac tatgaagtgt
      241 ctcgggaagc gcaggggcca ggcagctgct ttcctgcctc tttgctggct ctttttgaag
      301 attctgcaac cggggcacag ccacctttat aacaaccgct atgctggtga taaagtgata
      361 agatttattc ccaaaacaga agaggaagca tatgcactga agaaaatatc ctatcaactt
      421 aaggtggacc tgtggcagcc cagcagtatc tcctatgtat cagagggaac agttactgat
      481 gtccatatcc cccaaaatgg ttcccgagcc ctgttagcct tcttacagga agccaacatc
      541 cagtacaagg tcctcataga agatcttcag aaaacactgg agaagggaag cagcttgcac
      601 acccagagaa accgaagatc cctctctgga tataattatg aagtttatca ctccttagaa
      661 gaaattcaaa attggatgca tcatctgaat aaaactcact caggcctcat tcacatgttc
      721 tctattggaa gatcatatga gggaagatct ctttttattt taaagctggg cagacgatca
      781 cgactcaaaa gagctgtttg gatagactgt ggtattcatg caagagaatg gattggtcct
      841 gccttttgtc agtggtttgt aaaagaagct cttctaacat ataagagtga cccagccatg
      901 agaaaaatgt tgaatcatct atatttctat atcatgcctg tgtttaacgt cgatggatac
      961 cattttagtt ggaccaatga tcgattttgg agaaaaacaa ggtcaaggaa ctcaaggttt
     1021 cgctgccgtg gagtggatgc caatagaaac tggaaagtga agtggtgtga tgaaggagct
     1081 tctatgcacc cttgtgatga cacatactgt ggcccttttc cagaatctga gccggaagtg
     1141 aaggctgtag ctaacttcct tcgaaaacac agaaagcaca ttagggctta tctctccttt
     1201 catgcatatg ctcagatgtt actgtatccc tattcttaca aatatgcaac aattcccaat
     1261 tttagatgtg tggaatctgc agcttataaa gctgtgaatg cacttcagtc agtatacggg
     1321 gtacgataca gatatggacc agcctccaca acgttgtatg tgagctctgg tagctcaatg
     1381 gattgggcct acaaaaatgg aataccttat gcatttgctt tcgaactacg tgacactgga
     1441 tattttggat ttttactccc agagatgctc atcaaaccca cctgtacaga aactatgctg
     1501 gctgtgaaaa atatcacaat gcacctgcta aagaaatgtc cctgagacag cccaaggctc
     1561 aggtcaactg ccataggatt ctgagcaagg cctacttggc cctggataga aattgttttc
     1621 aaagagaagg gcagctgctt agagtgaaca tgtctatgga ctttaaaaag accccacgca
     1681 atttgacttt gtggcaatag aaaacagtaa aaaacagggc atagcctagt ttgttataag
     1741 aaaaagcatc cattttctat ccttttagag tcttatttga ttatggtggg agggaatgtt
     1801 ttcaaatttc ccatttctca agaaatgttc atattaattg aggatttccc ttcaataaat
     1861 ctcatgtcct caattaggat ctaggctagt aatgatgttt aattacttgg ttctcattgg
     1921 aaatggaaaa ttatgaaatg gaaaaaaaca actatgcttc ttaatgtaat aaacataggc
     1981 cgggcgcggt ggctcacacc tgtaattcca g
//
