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Aliases for CPNE1 Gene

Aliases for CPNE1 Gene

  • Copine 1 2 3 5
  • Copine I 2 3 4
  • Chromobindin 17 3 4
  • CPN1 3 4
  • Copine-1 3
  • COPN1 3

External Ids for CPNE1 Gene

Previous GeneCards Identifiers for CPNE1 Gene

  • GC20M033972
  • GC20M033934
  • GC20M034883
  • GC20M034929
  • GC20M033677
  • GC20M034213
  • GC20M030991

Summaries for CPNE1 Gene

Entrez Gene Summary for CPNE1 Gene

  • Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. This protein has a broad tissue distribution and it may function in membrane trafficking. This gene and the gene for RNA binding motif protein 12 overlap at map location 20q11.21. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Aug 2008]

GeneCards Summary for CPNE1 Gene

CPNE1 (Copine 1) is a Protein Coding gene. Among its related pathways are Innate Immune System and Metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding. An important paralog of this gene is CPNE3.

UniProtKB/Swiss-Prot for CPNE1 Gene

  • Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes (PubMed:14674885). Involved in the TNF-alpha receptor signaling pathway in a calcium-dependent manner (PubMed:14674885). Exhibits calcium-dependent phospholipid binding properties (PubMed:9430674, PubMed:19539605). Plays a role in neuronal progenitor cell differentiation; induces neurite outgrowth via a AKT-dependent signaling cascade and calcium-independent manner (PubMed:23263657, PubMed:25450385). May recruit target proteins to the cell membrane in a calcium-dependent manner (PubMed:12522145). May function in membrane trafficking (PubMed:9430674). Involved in TNF-alpha-induced NF-kappa-B transcriptional repression by inducing endoprotease processing of the transcription factor NF-kappa-B p65/RELA subunit (PubMed:18212740). Also induces endoprotease processing of NF-kappa-B p50/NFKB1, p52/NFKB2, RELB and REL (PubMed:18212740).

Gene Wiki entry for CPNE1 Gene

Additional gene information for CPNE1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPNE1 Gene

Genomics for CPNE1 Gene

GeneHancer (GH) Regulatory Elements for CPNE1 Gene

Promoters and enhancers for CPNE1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I035738 Promoter/Enhancer 3.3 UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER 148.7 -76.8 -76767 7 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 RBM39 CPNE1 RBM12 ERGIC3 AAR2 TRPC4AP RPL36P4 PHF20 EIF6 EDEM2
GH20I035655 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.4 +9.7 9726 0.1 CPNE1 LOC102725201 CEP250 RBM12 RNU6-759P ENSG00000272897
GH20I035653 Promoter 0.6 EPDnew 550.4 +11.2 11201 0.1 SUPT5H CPNE1 NFS1 ROMO1 RNU6-759P RBM12 ENSG00000272897
GH20I035764 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 114 -104.6 -104589 9.2 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF416 ZNF548 SP3 PHF20 ENSG00000283527 CPNE1 RBM12 RBM39 ERGIC3 NCOA6 TRPC4AP AAR2 DLGAP4-AS1
GH20I035665 Enhancer 0.5 ENCODE 550.8 -1.0 -978 0.2 BCOR ZGPAT ZNF362 ZBTB33 RBM12 CPNE1 RBM39 ENSG00000272897
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CPNE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CPNE1 gene promoter:

Genomic Locations for CPNE1 Gene

Genomic Locations for CPNE1 Gene
chr20:35,626,031-35,664,956
(GRCh38/hg38)
Size:
38,926 bases
Orientation:
Minus strand
chr20:34,213,953-34,252,878
(GRCh37/hg19)

Genomic View for CPNE1 Gene

Genes around CPNE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPNE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPNE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPNE1 Gene

Proteins for CPNE1 Gene

  • Protein details for CPNE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99829-CPNE1_HUMAN
    Recommended name:
    Copine-1
    Protein Accession:
    Q99829
    Secondary Accessions:
    • E1P5Q4
    • Q6IBL3
    • Q9H243
    • Q9NTZ7

    Protein attributes for CPNE1 Gene

    Size:
    537 amino acids
    Molecular mass:
    59059 Da
    Quaternary structure:
    • Homodimer; homodimerizes via its C2 domains (PubMed:18212740). Interacts with p65/RELA (via N-terminus); this interaction induces proteolytic cleavage of p65/RELA subunit and inhibition of NF-kappa-B transcriptional activity (PubMed:18212740). Interacts (via VWFA domain) with ACTB, CCDC22, MYCBP2, PPP5C, RDX and UBE2O (PubMed:12522145).

neXtProt entry for CPNE1 Gene

Post-translational modifications for CPNE1 Gene

  • Ubiquitination at posLast=6060, Lys73, posLast=157157, posLast=182182, Lys190, and posLast=522522
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CPNE1 Gene

Domains & Families for CPNE1 Gene

Gene Families for CPNE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CPNE1 Gene

Suggested Antigen Peptide Sequences for CPNE1 Gene

Graphical View of Domain Structure for InterPro Entry

Q99829

UniProtKB/Swiss-Prot:

CPNE1_HUMAN :
  • C2 domains are necessary for calcium-dependent cell membrane association. C2 domains are necessary for neuronal progenitor cell differentiation in a calcium-independent manner (PubMed:25450385).
  • Belongs to the copine family.
Domain:
  • C2 domains are necessary for calcium-dependent cell membrane association. C2 domains are necessary for neuronal progenitor cell differentiation in a calcium-independent manner (PubMed:25450385).
Family:
  • Belongs to the copine family.
genes like me logo Genes that share domains with CPNE1: view

Function for CPNE1 Gene

Molecular function for CPNE1 Gene

GENATLAS Biochemistry:
copine 1,calcium-dependent,phospholipid binding protein,potentially involved in regulating membrane trafficking,expressed in brain,fetal liver and heart
UniProtKB/Swiss-Prot Function:
Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes (PubMed:14674885). Involved in the TNF-alpha receptor signaling pathway in a calcium-dependent manner (PubMed:14674885). Exhibits calcium-dependent phospholipid binding properties (PubMed:9430674, PubMed:19539605). Plays a role in neuronal progenitor cell differentiation; induces neurite outgrowth via a AKT-dependent signaling cascade and calcium-independent manner (PubMed:23263657, PubMed:25450385). May recruit target proteins to the cell membrane in a calcium-dependent manner (PubMed:12522145). May function in membrane trafficking (PubMed:9430674). Involved in TNF-alpha-induced NF-kappa-B transcriptional repression by inducing endoprotease processing of the transcription factor NF-kappa-B p65/RELA subunit (PubMed:18212740). Also induces endoprotease processing of NF-kappa-B p50/NFKB1, p52/NFKB2, RELB and REL (PubMed:18212740).
UniProtKB/Swiss-Prot Induction:
Up-regulated by the inflammatory cytokine TNF-alpha (PubMed:14674885). Up-regulated during neuronal progenitor cell differentiation (PubMed:23263657).

Phenotypes From GWAS Catalog for CPNE1 Gene

Gene Ontology (GO) - Molecular Function for CPNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IDA 9430674
GO:0004175 endopeptidase activity IDA 18212740
GO:0005215 transporter activity TAS 9430674
GO:0005509 calcium ion binding IMP 25450385
GO:0005515 protein binding IPI 12522145
genes like me logo Genes that share ontologies with CPNE1: view
genes like me logo Genes that share phenotypes with CPNE1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CPNE1 Gene

Localization for CPNE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPNE1 Gene

Nucleus. Cytoplasm. Cell membrane. Note=Translocates to the cell membrane in a calcium-dependent manner (PubMed:21087455, PubMed:25450385). {ECO:0000269 PubMed:21087455, ECO:0000269 PubMed:25450385}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CPNE1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
lysosome 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CPNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 18212740
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 21087455
GO:0005829 cytosol IDA 12949241
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with CPNE1: view

Pathways & Interactions for CPNE1 Gene

genes like me logo Genes that share pathways with CPNE1: view

Pathways by source for CPNE1 Gene

Gene Ontology (GO) - Biological Process for CPNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006508 proteolysis IMP 18212740
GO:0006629 lipid metabolic process TAS 9430674
GO:0010629 negative regulation of gene expression IMP 18212740
genes like me logo Genes that share ontologies with CPNE1: view

No data available for SIGNOR curated interactions for CPNE1 Gene

Drugs & Compounds for CPNE1 Gene

(2) Drugs for CPNE1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Theophylline Approved Pharma Antagonist, Target 67
calcium Approved Nutra 0

(124) Additional Compounds for CPNE1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PS(14:0/14:0)
  • 1-Myristoyl-2-myristoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:0)
  • Phosphatidylserine(28:0)
  • PS(14:0/14:0)
  • PS(28:0)
PS(14:0/14:1(9Z))
  • 1-Myristoyl-2-myristoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:1)
  • Phosphatidylserine(14:0/14:1n5)
  • Phosphatidylserine(14:0/14:1w5)
  • Phosphatidylserine(28:1)
PS(14:0/16:0)
  • 1-Myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:0)
  • Phosphatidylserine(30:0)
  • PS(14:0/16:0)
  • PS(30:0)
PS(14:0/16:1(9Z))
  • 1-Myristoyl-2-palmitoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:1)
  • Phosphatidylserine(14:0/16:1n7)
  • Phosphatidylserine(14:0/16:1w7)
  • Phosphatidylserine(30:1)
PS(14:0/18:0)
  • 1-Myristoyl-2-stearoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/18:0)
  • Phosphatidylserine(32:0)
  • PS(14:0/18:0)
  • PS(32:0)
genes like me logo Genes that share compounds with CPNE1: view

Transcripts for CPNE1 Gene

Unigene Clusters for CPNE1 Gene

Copine I:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CPNE1 Gene

No ASD Table

Relevant External Links for CPNE1 Gene

GeneLoc Exon Structure for
CPNE1
ECgene alternative splicing isoforms for
CPNE1

Expression for CPNE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CPNE1 Gene

Protein differential expression in normal tissues from HIPED for CPNE1 Gene

This gene is overexpressed in Bone marrow stromal cell (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CPNE1 Gene



Protein tissue co-expression partners for CPNE1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CPNE1 Gene:

CPNE1

SOURCE GeneReport for Unigene cluster for CPNE1 Gene:

Hs.246413

mRNA Expression by UniProt/SwissProt for CPNE1 Gene:

Q99829-CPNE1_HUMAN
Tissue specificity: Expressed in neutrophils (at protein level) (PubMed:12949241). Widely expressed. Expressed in the brain. Expressed in neutrophil precursors from bone marrow and peripheral blood (PubMed:12949241).

Evidence on tissue expression from TISSUES for CPNE1 Gene

  • Nervous system(4.9)
  • Lung(3.7)
  • Skin(3.4)
  • Intestine(3.1)
  • Pancreas(3)
  • Stomach(2.3)
genes like me logo Genes that share expression patterns with CPNE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CPNE1 Gene

Orthologs for CPNE1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CPNE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CPNE1 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CPNE1 33 34
  • 90.8 (n)
cow
(Bos Taurus)
Mammalia CPNE1 33 34
  • 90.15 (n)
rat
(Rattus norvegicus)
Mammalia Cpne1 33
  • 87.48 (n)
mouse
(Mus musculus)
Mammalia Cpne1 33 16 34
  • 86.5 (n)
oppossum
(Monodelphis domestica)
Mammalia CPNE1 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 64 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CPNE1 34
  • 73 (a)
OneToOne
LOC100858298 33
  • 70.52 (n)
lizard
(Anolis carolinensis)
Reptilia CPNE1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cpne1 33
  • 68.69 (n)
Str.3098 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68861 33
zebrafish
(Danio rerio)
Actinopterygii cpne1 33 34
  • 67.49 (n)
worm
(Caenorhabditis elegans)
Secernentea T12A7.1 35
  • 39 (a)
Y73F8A.19 35
  • 24 (a)
soybean
(Glycine max)
eudicotyledons Gma.10127 33
rice
(Oryza sativa)
Liliopsida Os05g0373300 33
  • 51.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7161 34
  • 51 (a)
ManyToMany
-- 34
  • 48 (a)
ManyToMany
-- 34
  • 44 (a)
ManyToMany
Species where no ortholog for CPNE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CPNE1 Gene

ENSEMBL:
Gene Tree for CPNE1 (if available)
TreeFam:
Gene Tree for CPNE1 (if available)

Paralogs for CPNE1 Gene

Variants for CPNE1 Gene

Sequence variations from dbSNP and Humsavar for CPNE1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs781720548 pathogenic, SCHIZOPHRENIA 19 35,652,946(-) C/A intron_variant
rs1000003448 -- 35,661,115(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000250538 -- 35,646,283(-) C/A intron_variant
rs1000337280 -- 35,641,368(-) A/T intron_variant
rs1000535882 -- 35,641,586(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CPNE1 Gene

Variant ID Type Subtype PubMed ID
esv2660434 CNV deletion 23128226
esv3645717 CNV gain 21293372
nsv526188 CNV gain 19592680

Variation tolerance for CPNE1 Gene

Residual Variation Intolerance Score: 98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.70; 97.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CPNE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPNE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPNE1 Gene

Disorders for CPNE1 Gene

Additional Disease Information for CPNE1

No disorders were found for CPNE1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CPNE1 Gene

Publications for CPNE1 Gene

  1. The copines, a novel class of C2 domain-containing, calcium-dependent, phospholipid-binding proteins conserved from Paramecium to humans. (PMID: 9430674) Creutz CE … Cohen J (The Journal of biological chemistry 1998) 2 3 4 22 58
  2. Copine1 C2 domains have a critical calcium-independent role in the neuronal differentiation of hippocampal progenitor HiB5 cells. (PMID: 25450385) Park N … Park JY (Biochemical and biophysical research communications 2014) 3 4 58
  3. Copine1 enhances neuronal differentiation of the hippocampal progenitor HiB5 cells. (PMID: 23263657) Park N … Park JY (Molecules and cells 2012) 3 4 58
  4. Copines-1, -2, -3, -6 and -7 show different calcium-dependent intracellular membrane translocation and targeting. (PMID: 21087455) Perestenko PV … Jeffrey McIlhinney RA (The FEBS journal 2010) 3 4 58
  5. Upregulation of Copine1 in trabecular meshwork cells of POAG patients: a membrane proteomics approach. (PMID: 18523666) Zhang Y … Ge J (Molecular vision 2008) 3 22 58

Products for CPNE1 Gene

Sources for CPNE1 Gene

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