CPNE7_HUMAN
ID CPNE7_HUMAN Reviewed; 633 AA.
AC Q9UBL6;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Copine-7 {ECO:0000305};
DE AltName: Full=Copine VII {ECO:0000303|PubMed:10534407, ECO:0000312|HGNC:HGNC:2320};
GN Name=CPNE7 {ECO:0000312|HGNC:HGNC:2320};
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 [GENOMIC DNA / MRNA] (ISOFORM 1), AND TISSUE
RP SPECIFICITY.
RX PubMed=10534407; DOI=10.1006/geno.1999.5958;
RA Savino M., D'Apolito M., Centra M., van Beerendonk H.M.,
RA Cleton-Jansen A.-M., Whitmore S.A., Crawford J., Callen D.F., Zelante L.,
RA Savoia A.;
RT "Characterization of copine VII, a new member of the copine family, and its
RT exclusion as a candidate in sporadic breast cancers with loss of
RT heterozygosity at 16q24.3.";
RL Genomics 61:219-226(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 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 [3]
RP TISSUE SPECIFICITY.
RX PubMed=12949241; DOI=10.1189/jlb.0203083;
RA Cowland J.B., Carter D., Bjerregaard M.D., Johnsen A.H., Borregaard N.,
RA Lollike K.;
RT "Tissue expression of copines and isolation of copines I and III from the
RT cytosol of human neutrophils.";
RL J. Leukoc. Biol. 74:379-388(2003).
RN [4]
RP SUBCELLULAR LOCATION.
RX PubMed=21087455; DOI=10.1111/j.1742-4658.2010.07935.x;
RA Perestenko P.V., Pooler A.M., Noorbakhshnia M., Gray A., Bauccio C.,
RA Jeffrey McIlhinney R.A.;
RT "Copines-1, -2, -3, -6 and -7 show different calcium-dependent
RT intracellular membrane translocation and targeting.";
RL FEBS J. 277:5174-5189(2010).
CC -!- FUNCTION: Calcium-dependent phospholipid-binding protein that may play
CC a role in calcium-mediated intracellular processes.
CC {ECO:0000250|UniProtKB:Q99829}.
CC -!- COFACTOR:
CC Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
CC Evidence={ECO:0000255|PROSITE-ProRule:PRU00041};
CC -!- INTERACTION:
CC Q9UBL6; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-744841, EBI-10173507;
CC Q9UBL6-2; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-12012272, EBI-10173507;
CC Q9UBL6-2; Q13137: CALCOCO2; NbExp=3; IntAct=EBI-12012272, EBI-739580;
CC Q9UBL6-2; Q96D03: DDIT4L; NbExp=5; IntAct=EBI-12012272, EBI-742054;
CC Q9UBL6-2; Q9H596: DUSP21; NbExp=3; IntAct=EBI-12012272, EBI-7357329;
CC Q9UBL6-2; Q5JST6: EFHC2; NbExp=3; IntAct=EBI-12012272, EBI-2349927;
CC Q9UBL6-2; Q96SL4: GPX7; NbExp=5; IntAct=EBI-12012272, EBI-749411;
CC Q9UBL6-2; Q9UKT9: IKZF3; NbExp=3; IntAct=EBI-12012272, EBI-747204;
CC Q9UBL6-2; O95678: KRT75; NbExp=3; IntAct=EBI-12012272, EBI-2949715;
CC Q9UBL6-2; Q9UBR4-2: LHX3; NbExp=3; IntAct=EBI-12012272, EBI-12039345;
CC Q9UBL6-2; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12012272, EBI-16439278;
CC Q9UBL6-2; Q8N987: NECAB1; NbExp=7; IntAct=EBI-12012272, EBI-11956853;
CC Q9UBL6-2; Q5XKR4: OTP; NbExp=3; IntAct=EBI-12012272, EBI-12865884;
CC Q9UBL6-2; Q9BYU1: PBX4; NbExp=3; IntAct=EBI-12012272, EBI-10302990;
CC Q9UBL6-2; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-12012272, EBI-79165;
CC Q9UBL6-2; P30613: PKLR; NbExp=3; IntAct=EBI-12012272, EBI-2117450;
CC Q9UBL6-2; Q04864-2: REL; NbExp=3; IntAct=EBI-12012272, EBI-10829018;
CC Q9UBL6-2; Q8IYX7: SAXO1; NbExp=3; IntAct=EBI-12012272, EBI-3957636;
CC Q9UBL6-2; Q96N21: TEPSIN; NbExp=3; IntAct=EBI-12012272, EBI-11139477;
CC Q9UBL6-2; P36406: TRIM23; NbExp=3; IntAct=EBI-12012272, EBI-740098;
CC Q9UBL6-2; P14373: TRIM27; NbExp=3; IntAct=EBI-12012272, EBI-719493;
CC Q9UBL6-2; Q8TF47: ZFP90; NbExp=3; IntAct=EBI-12012272, EBI-11419867;
CC Q9UBL6-2; Q8NF64-3: ZMIZ2; NbExp=3; IntAct=EBI-12012272, EBI-12011330;
CC Q9UBL6-2; P17022: ZNF18; NbExp=3; IntAct=EBI-12012272, EBI-8648067;
CC Q9UBL6-2; Q6S9Z5: ZNF474; NbExp=3; IntAct=EBI-12012272, EBI-17269964;
CC Q9UBL6-2; Q7Z3I7: ZNF572; NbExp=3; IntAct=EBI-12012272, EBI-10172590;
CC Q9UBL6-2; Q8N720: ZNF655; NbExp=3; IntAct=EBI-12012272, EBI-625509;
CC Q9UBL6-2; Q6NX45: ZNF774; NbExp=3; IntAct=EBI-12012272, EBI-10251462;
CC Q9UBL6-2; Q9UGI0: ZRANB1; NbExp=3; IntAct=EBI-12012272, EBI-527853;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21087455}. Nucleus
CC {ECO:0000269|PubMed:21087455}. Cell membrane
CC {ECO:0000269|PubMed:21087455}. Note=Translocates to the cell membrane
CC in a calcium-dependent manner (PubMed:21087455).
CC {ECO:0000269|PubMed:21087455}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UBL6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UBL6-2; Sequence=VSP_001215;
CC -!- TISSUE SPECIFICITY: Expressed in the brain, testis, thymus and small
CC intestine (PubMed:10534407, PubMed:12949241).
CC {ECO:0000269|PubMed:10534407, ECO:0000269|PubMed:12949241}.
CC -!- DOMAIN: The C2 domain 1 is not necessary for calcium-mediated
CC translocation and association to the plasma membrane. The C2 domain 2
CC is necessary for calcium-mediated translocation and association to the
CC plasma membrane. {ECO:0000250|UniProtKB:H1UBN0}.
CC -!- SIMILARITY: Belongs to the copine family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AJ133798; CAB61431.1; -; mRNA.
DR EMBL; AJ133799; CAB61446.1; -; Genomic_DNA.
DR EMBL; AJ133800; CAB61446.1; JOINED; Genomic_DNA.
DR EMBL; AJ133801; CAB61446.1; JOINED; Genomic_DNA.
DR EMBL; AJ133802; CAB61446.1; JOINED; Genomic_DNA.
DR EMBL; AJ133803; CAB61446.1; JOINED; Genomic_DNA.
DR EMBL; AJ133804; CAB61446.1; JOINED; Genomic_DNA.
DR EMBL; AJ133805; CAB61446.1; JOINED; Genomic_DNA.
DR EMBL; AJ133806; CAB61446.1; JOINED; Genomic_DNA.
DR EMBL; AJ133807; CAB61446.1; JOINED; Genomic_DNA.
DR EMBL; AJ133808; CAB61446.1; JOINED; Genomic_DNA.
DR EMBL; AJ133809; CAB61446.1; JOINED; Genomic_DNA.
DR EMBL; AJ133810; CAB61446.1; JOINED; Genomic_DNA.
DR EMBL; BC035334; AAH35334.1; -; mRNA.
DR EMBL; BC064577; AAH64577.1; -; mRNA.
DR CCDS; CCDS10980.1; -. [Q9UBL6-1]
DR CCDS; CCDS10981.1; -. [Q9UBL6-2]
DR RefSeq; NP_055242.1; NM_014427.4. [Q9UBL6-1]
DR RefSeq; NP_705900.1; NM_153636.2. [Q9UBL6-2]
DR AlphaFoldDB; Q9UBL6; -.
DR SMR; Q9UBL6; -.
DR BioGRID; 118023; 81.
DR IntAct; Q9UBL6; 50.
DR MINT; Q9UBL6; -.
DR STRING; 9606.ENSP00000268720; -.
DR iPTMnet; Q9UBL6; -.
DR PhosphoSitePlus; Q9UBL6; -.
DR BioMuta; CPNE7; -.
DR DMDM; 10719954; -.
DR EPD; Q9UBL6; -.
DR jPOST; Q9UBL6; -.
DR MassIVE; Q9UBL6; -.
DR MaxQB; Q9UBL6; -.
DR PaxDb; Q9UBL6; -.
DR PeptideAtlas; Q9UBL6; -.
DR PRIDE; Q9UBL6; -.
DR ProteomicsDB; 83997; -. [Q9UBL6-1]
DR ProteomicsDB; 83998; -. [Q9UBL6-2]
DR Antibodypedia; 30877; 64 antibodies from 21 providers.
DR DNASU; 27132; -.
DR Ensembl; ENST00000268720.9; ENSP00000268720.5; ENSG00000178773.15. [Q9UBL6-1]
DR Ensembl; ENST00000319518.13; ENSP00000317374.8; ENSG00000178773.15. [Q9UBL6-2]
DR GeneID; 27132; -.
DR KEGG; hsa:27132; -.
DR MANE-Select; ENST00000319518.13; ENSP00000317374.8; NM_153636.3; NP_705900.1. [Q9UBL6-2]
DR UCSC; uc002fnp.3; human. [Q9UBL6-1]
DR CTD; 27132; -.
DR DisGeNET; 27132; -.
DR GeneCards; CPNE7; -.
DR HGNC; HGNC:2320; CPNE7.
DR HPA; ENSG00000178773; Tissue enhanced (brain, epididymis, pituitary gland).
DR MIM; 605689; gene.
DR neXtProt; NX_Q9UBL6; -.
DR OpenTargets; ENSG00000178773; -.
DR PharmGKB; PA26837; -.
DR VEuPathDB; HostDB:ENSG00000178773; -.
DR eggNOG; KOG1327; Eukaryota.
DR GeneTree; ENSGT00940000160442; -.
DR HOGENOM; CLU_020452_4_0_1; -.
DR InParanoid; Q9UBL6; -.
DR OMA; HCSIGSQ; -.
DR OrthoDB; 1067545at2759; -.
DR PhylomeDB; Q9UBL6; -.
DR TreeFam; TF316419; -.
DR PathwayCommons; Q9UBL6; -.
DR Reactome; R-HSA-1483206; Glycerophospholipid biosynthesis.
DR SignaLink; Q9UBL6; -.
DR BioGRID-ORCS; 27132; 213 hits in 1074 CRISPR screens.
DR ChiTaRS; CPNE7; human.
DR GenomeRNAi; 27132; -.
DR Pharos; Q9UBL6; Tbio.
DR PRO; PR:Q9UBL6; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q9UBL6; protein.
DR Bgee; ENSG00000178773; Expressed in lateral nuclear group of thalamus and 139 other tissues.
DR ExpressionAtlas; Q9UBL6; baseline and differential.
DR Genevisible; Q9UBL6; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
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:0071277; P:cellular response to calcium ion; IDA:UniProtKB.
DR GO; GO:0006629; P:lipid metabolic process; TAS:ProtInc.
DR CDD; cd04047; C2B_Copine; 1.
DR CDD; cd01459; vWA_copine_like; 1.
DR Gene3D; 2.60.40.150; -; 2.
DR Gene3D; 3.40.50.410; -; 1.
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; Cell membrane; Cytoplasm; Membrane;
KW Metal-binding; Nucleus; Reference proteome; Repeat.
FT CHAIN 1..633
FT /note="Copine-7"
FT /id="PRO_0000144848"
FT DOMAIN 2..133
FT /note="C2 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 212..339
FT /note="C2 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 382..581
FT /note="VWFA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00219"
FT BINDING 245
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 245
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 251
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 307
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 307
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 309
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 309
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 315
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT VAR_SEQ 120..194
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_001215"
FT VARIANT 77
FT /note="F -> L (in dbSNP:rs455527)"
FT /id="VAR_021955"
FT VARIANT 397
FT /note="R -> Q (in dbSNP:rs28568523)"
FT /id="VAR_033822"
FT VARIANT 507
FT /note="K -> E (in dbSNP:rs35731090)"
FT /id="VAR_048849"
FT VARIANT 633
FT /note="P -> L (in dbSNP:rs3751682)"
FT /id="VAR_021956"
SQ SEQUENCE 633 AA; 70294 MW; 8AF4B68D3EFC51BB CRC64;
MSAGSERGAA ATPGGLPAPC ASKVELRLSC RHLLDRDPLT KSDPSVALLQ QAQGQWVQVG
RTEVVRSSLH PVFSKVFTVD YYFEEVQRLR FEVYDTHGPS GFSCQEDDFL GGMECTLGQP
AQKWLLQVVM RVSVDVLGPA GHCAKHFLCC TESSHLARTG PSFLLRYDDL CLPWATAGAV
RWWTCRGGHT QGWQIVAQKK VTRPLLLKFG RNAGKSTITV IAEDISGNNG YVELSFRARK
LDDKDLFSKS DPFLELYRVN DDQGLQLVYR TEVVKNNLNP VWEAFKVSLS SLCSCEETRP
LKCLVWDYDS RGKHDFIGEF STTFEEMQKA FEEGQAQWDC VNPKYKQKRR SYKNSGVVVL
ADLKFHRVYS FLDYIMGGCQ IHFTVAIDFT ASNGDPRNSC SLHYINPYQP NEYLKALVSV
GEICQDYDSD KRFSALGFGA RIPPKYEVSH DFAINFNPED DECEGIQGVV EAYQNCLPRV
QLYGPTNVAP IISKVARVAA AEESTGKASQ YYILLILTDG VVTDMADTRE AIVRASRLPM
SIIIVGVGNA DFTDMQVLDG DDGVLRSPRG EPALRDIVQF VPFRELKNAS PAALAKCVLA
EVPKQVVEYY SHRGLPPRSL GVPAGEASPG CTP
