LOCUS       NM_130808               3749 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens copine 4 (CPNE4), transcript variant 3, mRNA.
ACCESSION   NM_130808
VERSION     NM_130808.3
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 3749)
  AUTHORS   Goel,M., Aponte,A.M., Wistow,G. and Badea,T.C.
  TITLE     Molecular studies into cell biological role of Copine-4 in Retinal
            Ganglion Cells
  JOURNAL   PLoS One 16 (11), e0255860 (2021)
   PUBMED   34847148
  REMARK    GeneRIF: Molecular studies into cell biological role of Copine-4 in
            Retinal Ganglion Cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3749)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3749)
  AUTHORS   Lee,J.Y., Kim,G., Park,S., Kang,S.M., Jang,Y. and Lee,S.H.
  TITLE     Associations between Genetic Variants and Angiographic
            Characteristics in Patients with Coronary Artery Disease
  JOURNAL   J Atheroscler Thromb 22 (4), 363-371 (2015)
   PUBMED   25328121
  REMARK    GeneRIF: Single nucleotide polymorphisms in CPEN4 gene is
            associated with Coronary Artery Disease.
REFERENCE   4  (bases 1 to 3749)
  AUTHORS   Ahmeti,K.B., Ajroud-Driss,S., Al-Chalabi,A., Andersen,P.M.,
            Armstrong,J., Birve,A., Blauw,H.M., Brown,R.H., Bruijn,L., Chen,W.,
            Chio,A., Comeau,M.C., Cronin,S., Diekstra,F.P., Soraya Gkazi,A.,
            Glass,J.D., Grab,J.D., Groen,E.J., Haines,J.L., Hardiman,O.,
            Heller,S., Huang,J., Hung,W.Y., Jaworski,J.M., Jones,A., Khan,H.,
            Landers,J.E., Langefeld,C.D., Leigh,P.N., Marion,M.C.,
            McLaughlin,R.L., Meininger,V., Melki,J., Miller,J.W., Mora,G.,
            Pericak-Vance,M.A., Rampersaud,E., Robberecht,W., Russell,L.P.,
            Salachas,F., Saris,C.G., Shatunov,A., Shaw,C.E., Siddique,N.,
            Siddique,T., Smith,B.N., Sufit,R., Topp,S., Traynor,B.J., Vance,C.,
            van Damme,P., van den Berg,L.H., van Es,M.A., van Vught,P.W.,
            Veldink,J.H., Yang,Y. and Zheng,J.G.
  CONSRTM   ITALSGEN consortium; ALSGEN Consortium
  TITLE     Age of onset of amyotrophic lateral sclerosis is modulated by a
            locus on 1p34.1
  JOURNAL   Neurobiol Aging 34 (1), 357 (2013)
   PUBMED   22959728
REFERENCE   5  (bases 1 to 3749)
  AUTHORS   Szigeti,K., Lal,D., Li,Y., Doody,R.S., Wilhelmsen,K., Yan,L.,
            Liu,S. and Ma,C.
  CONSRTM   Texas Alzheimer Research and Care Consortium
  TITLE     Genome-wide scan for copy number variation association with age at
            onset of Alzheimer's disease
  JOURNAL   J Alzheimers Dis 33 (2), 517-523 (2013)
   PUBMED   23202439
REFERENCE   6  (bases 1 to 3749)
  AUTHORS   Ramsuran,V., Kulkarni,H., He,W., Mlisana,K., Wright,E.J.,
            Werner,L., Castiblanco,J., Dhanda,R., Le,T., Dolan,M.J., Guan,W.,
            Weiss,R.A., Clark,R.A., Karim,S.S., Ahuja,S.K. and Ndung'u,T.
  TITLE     Duffy-null-associated low neutrophil counts influence HIV-1
            susceptibility in high-risk South African black women
  JOURNAL   Clin Infect Dis 52 (10), 1248-1256 (2011)
   PUBMED   21507922
REFERENCE   7  (bases 1 to 3749)
  AUTHORS   Kim,Y.C., Jung,Y.C., Xuan,Z., Dong,H., Zhang,M.Q. and Wang,S.M.
  TITLE     Pan-genome isolation of low abundance transcripts using SAGE tag
  JOURNAL   FEBS Lett 580 (28-29), 6721-6729 (2006)
   PUBMED   17113583
REFERENCE   8  (bases 1 to 3749)
  AUTHORS   Maitra,R., Grigoryev,D.N., Bera,T.K., Pastan,I.H. and Lee,B.
  TITLE     Cloning, molecular characterization, and expression analysis of
            Copine 8
  JOURNAL   Biochem Biophys Res Commun 303 (3), 842-847 (2003)
   PUBMED   12670487
  REMARK    GeneRIF: Cloning, molecular characterization, and expression
            analysis. May have an important role to play in prostate regulation
            and development.
REFERENCE   9  (bases 1 to 3749)
  AUTHORS   Tomsig,J.L., Snyder,S.L. and Creutz,C.E.
  TITLE     Identification of targets for calcium signaling through the copine
            family of proteins. Characterization of a coiled-coil
            copine-binding motif
  JOURNAL   J Biol Chem 278 (12), 10048-10054 (2003)
   PUBMED   12522145
REFERENCE   10 (bases 1 to 3749)
  AUTHORS   Creutz,C.E., Tomsig,J.L., Snyder,S.L., Gautier,M.C., Skouri,F.,
            Beisson,J. and Cohen,J.
  TITLE     The copines, a novel class of C2 domain-containing,
            calcium-dependent, phospholipid-binding proteins conserved from
            Paramecium to humans
  JOURNAL   J Biol Chem 273 (3), 1393-1402 (1998)
   PUBMED   9430674
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA194161.1, DA156722.1,
            BC014396.1 and BC028613.1.
            
            On Aug 14, 2020 this sequence version replaced NM_130808.2.
            
            Summary: This gene belongs to the highly conserved copine family.
            It encodes a calcium-dependent, phospholipid-binding protein, which
            may be involved in membrane trafficking, mitogenesis and
            development. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jan 2014].
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
            portion of the 5' coding region and initiates translation from a
            downstream start codon, compared to variant 1. It encodes isoform
            2, which has a shorter N-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038194.2318176.1, BC014396.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000429747.6/ ENSP00000411904.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-114               DA194161.1         43-156
            115-336             DA156722.1         1-222
            337-2590            BC014396.1         323-2576
            2591-3749           BC028613.1         1144-2302
FEATURES             Location/Qualifiers
     source          1..3749
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     gene            1..3749
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /note="copine 4"
                     /db_xref="GeneID:131034"
                     /db_xref="HGNC:HGNC:2317"
                     /db_xref="MIM:604208"
     exon            1..448
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     exon            449..629
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     CDS             450..2123
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /note="isoform 2 is encoded by transcript variant 3;
                     copine 8; copine IV"
                     /codon_start=1
                     /product="copine-4 isoform 2"
                     /protein_id="NP_570720.1"
                     /db_xref="CCDS:CCDS3072.1"
                     /db_xref="GeneID:131034"
                     /db_xref="HGNC:HGNC:2317"
                     /db_xref="MIM:604208"
                     /translation="MKKMSNIYESAANTLGIFNSPCLTKVELRVACKGISDRDALSKP
                     DPCVILKMQSHGQWFEVDRTEVIRTCINPVYSKLFTVDFYFEEVQRLRFEVHDISSNH
                     NGLKEADFLGGMECTLGQIVSQRKLSKSLLKHGNTAGKSSITVIAEELSGNDDYVELA
                     FNARKLDDKDFFSKSDPFLEIFRMNDDATQQLVHRTEVVMNNLSPAWKSFKVSVNSLC
                     SGDPDRRLKCIVWDWDSNGKHDFIGEFTSTFKEMRGAMEGKQVQWECINPKYKAKKKN
                     YKNSGTVILNLCKIHKMHSFLDYIMGGCQIQFTVAIDFTASNGDPRNSCSLHYIHPYQ
                     PNEYLKALVAVGEICQDYDSDKMFPAFGFGARIPPEYTVSHDFAINFNEDNPECAGIQ
                     GVVEAYQSCLPKLQLYGPTNIAPIIQKVAKSASEETNTKEASQYFILLILTDGVITDM
                     ADTREAIVHASHLPMSVIIVGVGNADFSDMQMLDGDDGILRSPKGEPVLRDIVQFVPF
                     RNFKHASPAALAKSVLAEVPNQVVDYYNGKGIKPKCSSEMYESSRTLAP"
     exon            630..809
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     exon            810..881
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     exon            882..956
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1040
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1041..1130
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..1229
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..1316
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1317..1376
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1377..1510
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1511..1565
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1566..1617
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1618..1751
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1752..1988
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1989..3749
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2581..2586
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /note="hexamer: AATAAA"
     polyA_site      2600
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /note="major polyA site"
     regulatory      3728..3733
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
                     /note="hexamer: AATAAA"
     polyA_site      3749
                     /gene="CPNE4"
                     /gene_synonym="COPN4; CPN4"
ORIGIN      
        1 gtcagaaggt ggaaatctct ctgtgagaag ctgccatctc cccgccaccc gctcgtcccc
       61 ttctctttct gccaccctcc tttccttcct ccctcgctcc actccactcc ctccctcttt
      121 tctcagtacc ctcctcttta ctctccgagt taactgagag ccgacctgac atctccaaca
      181 ttttcaccct cttcccccac ccccatcacc gagaatggag tcagggtttc cggagagacc
      241 gaactctgct ctcagcacct ttcccagccg ctgttgctaa actgacctcg gaggacgaga
      301 ggggaaggag gtgcgacgcc ccttacatca gtacaaaact accacaccaa ccacctccac
      361 ttcaaagccg gattttgcat cctgggggcg ggacagacct cgtcccgggc tgaattctct
      421 ctccactctt cgagattggc acacccagaa tgaagaagat gagcaacatt tatgagtccg
      481 ctgccaacac actgggaatc tttaacagcc cctgcctgac caaagttgag ctgcgtgtgg
      541 cgtgcaaagg catttctgac agagatgccc tttccaaacc agacccctgt gtcatcctca
      601 agatgcagtc tcatgggcag tggtttgagg ttgacaggac tgaggtgatt cgcacctgca
      661 taaacccagt gtactcaaaa ctgtttactg tggactttta ctttgaggag gtgcagcgcc
      721 tgcggtttga agtccatgac atcagcagca accacaatgg gctgaaggag gccgacttcc
      781 ttggtggcat ggagtgcaca cttggccaga ttgtttccca gagaaagctg tccaaatcct
      841 tgctgaagca tgggaacaca gcagggaaat cttccatcac ggtgattgct gaagaattat
      901 ctggcaatga cgactatgtt gagcttgcat tcaatgcacg gaaattggat gacaaggatt
      961 tcttcagtaa atctgaccca tttctggaaa tttttcgtat gaatgatgat gcaactcagc
     1021 agctggtgca ccgaactgag gttgtgatga ataacttaag cccagcctgg aaatcattca
     1081 aagtatctgt aaattctcta tgcagcggag acccagaccg ccggctaaag tgcatagtat
     1141 gggactggga ctccaatggc aagcatgact tcattggaga attcacctcg acattcaagg
     1201 agatgagagg agcaatggaa gggaaacagg tgcagtggga gtgcatcaat cccaagtaca
     1261 aagccaagaa gaagaattac aagaactcag gcactgtgat tctgaatctg tgcaagattc
     1321 acaagatgca ttctttcttg gactacatca tgggtggctg ccaaatccag tttacagtag
     1381 ctatagattt cactgcctca aacggggacc ccaggaacag ctgttccttg cactacatcc
     1441 acccttacca acccaatgag tatctgaaag ctttggtagc tgtgggggag atttgccaag
     1501 actatgacag tgacaaaatg ttccctgcct ttgggtttgg cgccaggata cctccagagt
     1561 acacggtctc tcatgacttt gcaatcaact ttaatgaaga caacccagaa tgtgcaggaa
     1621 ttcaaggagt tgtggaagcc tatcagagct gtcttcctaa gctccaactc tacggtccca
     1681 ccaacattgc ccccatcatc cagaaggttg ccaagtcagc gtcagaggaa actaacacca
     1741 aggaggcatc gcaatacttc atcctgctga tcctgacaga tggtgttatc acagacatgg
     1801 ccgacacccg ggaggccatt gtccatgcct cccacctccc catgtcagtc atcatcgtgg
     1861 gagtagggaa cgctgacttc agtgacatgc agatgctgga cggtgatgat gggattctga
     1921 ggtcacccaa gggagagcct gttcttcgag acatcgtcca gttcgtgccc ttcaggaact
     1981 tcaaacacgc atctccagct gccctggcaa agagcgtgct ggctgaagtc ccaaaccaag
     2041 ttgtggacta ttacaatggc aaaggaatta aaccaaaatg ttcatcagaa atgtatgaat
     2101 cttccagaac actagcacca tgaactcccc acacagtttt acagagttct gaaatactat
     2161 tcctgctaat atttcatatt taatacttct actactcctg tactttaaaa aaccaacaac
     2221 atatacacat ttaaaaatag cacgttttgg tgatttttaa ctatctgaca attttttttg
     2281 catgtgtagc cctgaggcct ggatctgtta agcccttgta ttgttaactt tttacaaaga
     2341 aacacagata acaataactt actatttaca ttacagcatg tcgccttgaa ataaaatggt
     2401 atctgtatcc attttttata caggtttgtt gaaattttgc taaatttctt atctttacac
     2461 tctaaagcat tttgaaacat ttactgaatg ttgatagacg aaatatactt ggttttatct
     2521 gctataggat gagagacttt ttaaaatggc agatgcatgg actgtatttt gcatgtttaa
     2581 aataaaaaaa gaaaaaccca catggttttt gcagttgtta tctctaattc ctccctgctg
     2641 agaatggtct ctctactaaa gaagaggttt atttacttct tctttctgag gtgagtcttt
     2701 ttgaggtaag tctgggtcat ctagcccagc acctctcata ctttatactg tgtacacaaa
     2761 tcacctgaga gtcttattaa aattcagatt gtgatacata ggtctgtgtg ggacccaaga
     2821 ttctgcatct ttaactaggt cccaggtgat gctaatgcag tccctggact ataccaagag
     2881 gagtgaggat ctagacttta gggtgtcatg atggagacca tcaaaaacag cgtggcttct
     2941 agtctgcttg agaatggcac ctcttcctga cagtagcaca aaagtcctgc ctgtctccag
     3001 aggtgacagt agaaagtaat gagactgact ccagaagctg cacacctcaa atcagtctcg
     3061 ctgctttata ctcacacctc ttccttagat aagactagaa agtgctcctc ctggccagtc
     3121 cctgccctct taaaagtggc atcacacacc actgcatgga tggtgtcaat ccctagaagt
     3181 gatctcaaag cgtcttcact ggaaccacaa caatagaaac ttacacatgg caaatggcta
     3241 tgcagtacag ctcccgatat ctggtccact aaattgacct ttgagcttag tgtgggaatt
     3301 tcttgcctcc tttctatcac ttctgagaac aaattctata agcagaaatg cctggaatta
     3361 ttgtctgggg tcgaggtgtt ttgtttcaat ataagctggc cagtctggaa ccaaaaggac
     3421 gaatgtttaa cttgtataat cttcttgcag ggaaacaggc aagtgttttt gcaagcataa
     3481 aaggcacaaa gtggagttta tttttggtca gagagatgaa gaagtaaatc acaaggcaaa
     3541 atttgttgtt tgtttgaaga ggggagcagt attaacaagc aaataaaatg ccttctatga
     3601 tttccacagt tacaattata gatcctaatc ttgcaaatac atgtcaccaa atgcacaaca
     3661 ttttgggaat gatggtaaaa ttgtatgact gaaaaaatca taaatattta agctatattg
     3721 ttttattaat aaattgggta cttacagaa
//
