CPNE9_HUMAN
ID CPNE9_HUMAN Reviewed; 553 AA.
AC Q8IYJ1; A1L430; A6NDX6; A8MSP8;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-JUL-2010, sequence version 3.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Copine-9 {ECO:0000305};
DE AltName: Full=Copine IX {ECO:0000312|HGNC:HGNC:24336};
GN Name=CPNE9 {ECO:0000312|HGNC:HGNC:24336};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-95.
RC TISSUE=Plasma;
RX PubMed=16335952; DOI=10.1021/pr0502065;
RA Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J.,
RA Smith R.D.;
RT "Human plasma N-glycoproteome analysis by immunoaffinity subtraction,
RT hydrazide chemistry, and mass spectrometry.";
RL J. Proteome Res. 4:2070-2080(2005).
RN [5]
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=23999003; DOI=10.1016/j.jdermsci.2013.07.010;
RA Yoo J.C., Lim T.Y., Park J.S., Hah Y.S., Park N., Hong S.G., Park J.Y.,
RA Yoon T.J.;
RT "SYT14L, especially its C2 domain, is involved in regulating melanocyte
RT differentiation.";
RL J. Dermatol. Sci. 72:246-251(2013).
CC -!- FUNCTION: Probable calcium-dependent phospholipid-binding protein that
CC may play a role in calcium-mediated intracellular processes (By
CC similarity). Plays a role in dendrite formation by melanocytes
CC (PubMed:23999003). {ECO:0000250|UniProtKB:Q99829,
CC ECO:0000269|PubMed:23999003}.
CC -!- COFACTOR:
CC Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
CC Evidence={ECO:0000255|PROSITE-ProRule:PRU00041};
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IYJ1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IYJ1-2; Sequence=VSP_039523;
CC -!- TISSUE SPECIFICITY: Expressed in melanocytes (PubMed:23999003).
CC {ECO:0000269|PubMed:23999003}.
CC -!- SIMILARITY: Belongs to the copine family. {ECO:0000305}.
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DR EMBL; AC022382; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471055; EAW63970.1; -; Genomic_DNA.
DR EMBL; BC130375; AAI30376.1; -; mRNA.
DR EMBL; BC035735; AAH35735.2; -; mRNA.
DR CCDS; CCDS2574.2; -. [Q8IYJ1-1]
DR CCDS; CCDS77695.1; -. [Q8IYJ1-2]
DR RefSeq; NP_001295317.1; NM_001308388.1. [Q8IYJ1-2]
DR RefSeq; NP_705899.2; NM_153635.2. [Q8IYJ1-1]
DR AlphaFoldDB; Q8IYJ1; -.
DR SMR; Q8IYJ1; -.
DR BioGRID; 127405; 19.
DR IntAct; Q8IYJ1; 1.
DR MINT; Q8IYJ1; -.
DR STRING; 9606.ENSP00000373343; -.
DR GlyGen; Q8IYJ1; 2 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q8IYJ1; -.
DR PhosphoSitePlus; Q8IYJ1; -.
DR BioMuta; CPNE9; -.
DR DMDM; 300669696; -.
DR EPD; Q8IYJ1; -.
DR jPOST; Q8IYJ1; -.
DR MassIVE; Q8IYJ1; -.
DR MaxQB; Q8IYJ1; -.
DR PaxDb; Q8IYJ1; -.
DR PeptideAtlas; Q8IYJ1; -.
DR PRIDE; Q8IYJ1; -.
DR ProteomicsDB; 71184; -. [Q8IYJ1-1]
DR ProteomicsDB; 71185; -. [Q8IYJ1-2]
DR Antibodypedia; 44749; 119 antibodies from 16 providers.
DR DNASU; 151835; -.
DR Ensembl; ENST00000383831.7; ENSP00000373342.3; ENSG00000144550.14. [Q8IYJ1-2]
DR Ensembl; ENST00000383832.8; ENSP00000373343.3; ENSG00000144550.14. [Q8IYJ1-1]
DR GeneID; 151835; -.
DR KEGG; hsa:151835; -.
DR MANE-Select; ENST00000383832.8; ENSP00000373343.3; NM_153635.3; NP_705899.2.
DR UCSC; uc062gli.1; human. [Q8IYJ1-1]
DR CTD; 151835; -.
DR GeneCards; CPNE9; -.
DR HGNC; HGNC:24336; CPNE9.
DR HPA; ENSG00000144550; Tissue enriched (brain).
DR neXtProt; NX_Q8IYJ1; -.
DR OpenTargets; ENSG00000144550; -.
DR PharmGKB; PA142672082; -.
DR VEuPathDB; HostDB:ENSG00000144550; -.
DR eggNOG; KOG1327; Eukaryota.
DR GeneTree; ENSGT00940000159659; -.
DR HOGENOM; CLU_020452_3_2_1; -.
DR InParanoid; Q8IYJ1; -.
DR OMA; CGVIIFA; -.
DR OrthoDB; 1067545at2759; -.
DR PhylomeDB; Q8IYJ1; -.
DR TreeFam; TF316419; -.
DR PathwayCommons; Q8IYJ1; -.
DR SignaLink; Q8IYJ1; -.
DR BioGRID-ORCS; 151835; 7 hits in 1067 CRISPR screens.
DR GenomeRNAi; 151835; -.
DR Pharos; Q8IYJ1; Tbio.
DR PRO; PR:Q8IYJ1; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8IYJ1; protein.
DR Bgee; ENSG00000144550; Expressed in lateral nuclear group of thalamus and 125 other tissues.
DR ExpressionAtlas; Q8IYJ1; baseline and differential.
DR Genevisible; Q8IYJ1; HS.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005615; C:extracellular space; HDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0005544; F:calcium-dependent phospholipid binding; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0071277; P:cellular response to calcium ion; IBA:GO_Central.
DR GO; GO:1903861; P:positive regulation of dendrite extension; IDA:UniProtKB.
DR CDD; cd04047; C2B_Copine; 1.
DR CDD; cd01459; vWA_copine_like; 1.
DR Gene3D; 2.60.40.150; -; 2.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR InterPro; IPR037768; C2B_Copine.
DR InterPro; IPR045052; Copine.
DR InterPro; IPR010734; Copine_C.
DR InterPro; IPR002035; VWF_A.
DR InterPro; IPR036465; vWFA_dom_sf.
DR PANTHER; PTHR10857; PTHR10857; 1.
DR Pfam; PF00168; C2; 2.
DR Pfam; PF07002; Copine; 1.
DR SMART; SM00239; C2; 2.
DR SMART; SM00327; VWA; 1.
DR SUPFAM; SSF49562; SSF49562; 2.
DR SUPFAM; SSF53300; SSF53300; 1.
DR PROSITE; PS50004; C2; 2.
DR PROSITE; PS50234; VWFA; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Calcium; Differentiation; Glycoprotein;
KW Metal-binding; Reference proteome; Repeat.
FT CHAIN 1..553
FT /note="Copine-9"
FT /id="PRO_0000277583"
FT DOMAIN 1..125
FT /note="C2 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 132..255
FT /note="C2 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 299..500
FT /note="VWFA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00219"
FT REGION 531..553
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 534..553
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 163
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 163
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 169
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 225
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 225
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 227
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 227
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 233
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT CARBOHYD 95
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:16335952"
FT VAR_SEQ 493..553
FT /note="FVPFRDYVDRSGNQVLSMARLAKDVLAEIPEQLLSYMRTRDIQPRPPPPANP
FT SPIPAPEQP -> EGCCSLGTSVV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039523"
FT CONFLICT 100
FT /note="Missing (in Ref. 2; EAW63970)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 553 AA; 61864 MW; B57802E3DBFFF579 CRC64;
MSLGGASERS VPATKIEITV SCRNLLDLDT FSKSDPMVVL YTQSRASQEW REFGRTEVID
NTLNPDFVRK FVLDYFFEEK QNLRFDVYNV DSKTNISKPK DFLGQAFLAL GEVIGGQGSR
VERTLTGVPG KKCGTILLTA EELSNCRDIA TMQLCANKLD KKDFFGKSDP FLVFYRSNED
GTFTICHKTE VVKNTLNPVW QPFSIPVRAL CNGDYDRTVK IDVYDWDRDG SHDFIGEFTT
SYRELSKAQN QFTVYEVLNP RKKCKKKKYV NSGTVTLLSF SVDSEFTFVD YIKGGTQLNF
TVAIDFTASN GNPLQPTSLH YMSPYQLSAY AMALKAVGEI IQDYDSDKLF PAYGFGAKLP
PEGRISHQFP LNNNDEDPNC AGIEGVLESY FQSLRTVQLY GPTYFAPVIN QVARAAAKIS
DGSQYYVLLI ITDGVISDMT QTKEAIVSAS SLPMSIIIVG VGPAMFEAME ELDGDDVRVS
SRGRYAERDI VQFVPFRDYV DRSGNQVLSM ARLAKDVLAE IPEQLLSYMR TRDIQPRPPP
PANPSPIPAP EQP
