Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8904
Gene name	Copine 1
Gene symbol	CPNE1
Synonyms (NCBI Gene)	COPN1CPN1
Chromosome	20
Chromosome location	20q11.22
Summary	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

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Show/Hide all (117)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032109	hsa-let-7d-5p	Sequencing	20371350
MIRT043882	hsa-miR-378a-3p	CLASH	23622248
MIRT040983	hsa-miR-532-5p	CLASH	23622248
MIRT037995	hsa-miR-500a-5p	CLASH	23622248
MIRT036389	hsa-miR-1229-3p	CLASH	23622248
MIRT727953	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT727952	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT727951	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT727950	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT906491	hsa-miR-106a	CLIP-seq
MIRT906492	hsa-miR-106b	CLIP-seq
MIRT906493	hsa-miR-1253	CLIP-seq
MIRT906494	hsa-miR-15a	CLIP-seq
MIRT906495	hsa-miR-15b	CLIP-seq
MIRT906496	hsa-miR-16	CLIP-seq
MIRT906497	hsa-miR-17	CLIP-seq
MIRT906498	hsa-miR-195	CLIP-seq
MIRT906499	hsa-miR-20a	CLIP-seq
MIRT906500	hsa-miR-20b	CLIP-seq
MIRT906501	hsa-miR-2278	CLIP-seq
MIRT906502	hsa-miR-296-3p	CLIP-seq
MIRT906503	hsa-miR-302a	CLIP-seq
MIRT906504	hsa-miR-302b	CLIP-seq
MIRT906505	hsa-miR-302c	CLIP-seq
MIRT906506	hsa-miR-302d	CLIP-seq
MIRT906507	hsa-miR-302e	CLIP-seq
MIRT906508	hsa-miR-3150b-3p	CLIP-seq
MIRT906509	hsa-miR-3154	CLIP-seq
MIRT906510	hsa-miR-3163	CLIP-seq
MIRT906511	hsa-miR-335	CLIP-seq
MIRT906512	hsa-miR-3613-3p	CLIP-seq
MIRT906513	hsa-miR-372	CLIP-seq
MIRT906514	hsa-miR-373	CLIP-seq
MIRT906515	hsa-miR-3940-5p	CLIP-seq
MIRT906516	hsa-miR-424	CLIP-seq
MIRT906517	hsa-miR-4433	CLIP-seq
MIRT906518	hsa-miR-4459	CLIP-seq
MIRT906519	hsa-miR-4507	CLIP-seq
MIRT906520	hsa-miR-450b-3p	CLIP-seq
MIRT906521	hsa-miR-4654	CLIP-seq
MIRT906522	hsa-miR-4689	CLIP-seq
MIRT906523	hsa-miR-4693-3p	CLIP-seq
MIRT906524	hsa-miR-4713-3p	CLIP-seq
MIRT906525	hsa-miR-4768-3p	CLIP-seq
MIRT906526	hsa-miR-4769-5p	CLIP-seq
MIRT906527	hsa-miR-4784	CLIP-seq
MIRT906528	hsa-miR-497	CLIP-seq
MIRT906529	hsa-miR-519d	CLIP-seq
MIRT906530	hsa-miR-520a-3p	CLIP-seq
MIRT906531	hsa-miR-520b	CLIP-seq
MIRT906532	hsa-miR-520c-3p	CLIP-seq
MIRT906533	hsa-miR-520d-3p	CLIP-seq
MIRT906534	hsa-miR-520d-5p	CLIP-seq
MIRT906535	hsa-miR-520e	CLIP-seq
MIRT906536	hsa-miR-520g	CLIP-seq
MIRT906537	hsa-miR-520h	CLIP-seq
MIRT906538	hsa-miR-524-5p	CLIP-seq
MIRT906539	hsa-miR-545	CLIP-seq
MIRT906540	hsa-miR-548l	CLIP-seq
MIRT906541	hsa-miR-548n	CLIP-seq
MIRT906542	hsa-miR-548p	CLIP-seq
MIRT906543	hsa-miR-548t	CLIP-seq
MIRT906544	hsa-miR-621	CLIP-seq
MIRT906545	hsa-miR-638	CLIP-seq
MIRT906546	hsa-miR-769-3p	CLIP-seq
MIRT906547	hsa-miR-93	CLIP-seq
MIRT906494	hsa-miR-15a	CLIP-seq
MIRT906495	hsa-miR-15b	CLIP-seq
MIRT906496	hsa-miR-16	CLIP-seq
MIRT906498	hsa-miR-195	CLIP-seq
MIRT906501	hsa-miR-2278	CLIP-seq
MIRT906502	hsa-miR-296-3p	CLIP-seq
MIRT906548	hsa-miR-323b-5p	CLIP-seq
MIRT906511	hsa-miR-335	CLIP-seq
MIRT906549	hsa-miR-3663-5p	CLIP-seq
MIRT906516	hsa-miR-424	CLIP-seq
MIRT906517	hsa-miR-4433	CLIP-seq
MIRT906518	hsa-miR-4459	CLIP-seq
MIRT906520	hsa-miR-450b-3p	CLIP-seq
MIRT906521	hsa-miR-4654	CLIP-seq
MIRT906524	hsa-miR-4713-3p	CLIP-seq
MIRT906525	hsa-miR-4768-3p	CLIP-seq
MIRT906526	hsa-miR-4769-5p	CLIP-seq
MIRT906528	hsa-miR-497	CLIP-seq
MIRT906539	hsa-miR-545	CLIP-seq
MIRT906542	hsa-miR-548p	CLIP-seq
MIRT906545	hsa-miR-638	CLIP-seq
MIRT906546	hsa-miR-769-3p	CLIP-seq
MIRT906502	hsa-miR-296-3p	CLIP-seq
MIRT906548	hsa-miR-323b-5p	CLIP-seq
MIRT906549	hsa-miR-3663-5p	CLIP-seq
MIRT906550	hsa-miR-412	CLIP-seq
MIRT906551	hsa-miR-4420	CLIP-seq
MIRT906517	hsa-miR-4433	CLIP-seq
MIRT906518	hsa-miR-4459	CLIP-seq
MIRT906525	hsa-miR-4768-3p	CLIP-seq
MIRT906494	hsa-miR-15a	CLIP-seq
MIRT906495	hsa-miR-15b	CLIP-seq
MIRT906496	hsa-miR-16	CLIP-seq
MIRT906498	hsa-miR-195	CLIP-seq
MIRT906501	hsa-miR-2278	CLIP-seq
MIRT906502	hsa-miR-296-3p	CLIP-seq
MIRT906548	hsa-miR-323b-5p	CLIP-seq
MIRT906511	hsa-miR-335	CLIP-seq
MIRT906516	hsa-miR-424	CLIP-seq
MIRT906517	hsa-miR-4433	CLIP-seq
MIRT906518	hsa-miR-4459	CLIP-seq
MIRT906520	hsa-miR-450b-3p	CLIP-seq
MIRT906521	hsa-miR-4654	CLIP-seq
MIRT906524	hsa-miR-4713-3p	CLIP-seq
MIRT906525	hsa-miR-4768-3p	CLIP-seq
MIRT906526	hsa-miR-4769-5p	CLIP-seq
MIRT906528	hsa-miR-497	CLIP-seq
MIRT906539	hsa-miR-545	CLIP-seq
MIRT906542	hsa-miR-548p	CLIP-seq
MIRT906545	hsa-miR-638	CLIP-seq
MIRT906546	hsa-miR-769-3p	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001786	Function	Phosphatidylserine binding	IDA	9430674
GO:0004175	Function	Endopeptidase activity	IDA	18212740
GO:0005509	Function	Calcium ion binding	IMP	25450385
GO:0005515	Function	Protein binding	IPI	12522145, 32296183
GO:0005544	Function	Calcium-dependent phospholipid binding	IBA
GO:0005544	Function	Calcium-dependent phospholipid binding	IEA
GO:0005544	Function	Calcium-dependent phospholipid binding	TAS	9430674
GO:0005634	Component	Nucleus	IDA	18212740, 21087455
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	21087455, 25450385
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	12949241, 18212740
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IMP	18212740
GO:0006629	Process	Lipid metabolic process	TAS	9430674
GO:0010629	Process	Negative regulation of gene expression	IMP	18212740
GO:0016020	Component	Membrane	IDA	25450385
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	TAS	9430674
GO:0030154	Process	Cell differentiation	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0042802	Function	Identical protein binding	IPI	18212740
GO:0043122	Process	Regulation of canonical NF-kappaB signal transduction	IBA
GO:0043122	Process	Regulation of canonical NF-kappaB signal transduction	IMP	14674885
GO:0043392	Process	Negative regulation of DNA binding	IDA	18212740
GO:0045666	Process	Positive regulation of neuron differentiation	IDA	23263657
GO:0045666	Process	Positive regulation of neuron differentiation	IMP	25450385
GO:0046872	Function	Metal ion binding	IEA
GO:0051059	Function	NF-kappaB binding	IPI	18212740
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	23263657
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	25450385
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145
GO:0071277	Process	Cellular response to calcium ion	IBA
GO:0071277	Process	Cellular response to calcium ion	IMP	14674885
GO:1901223	Process	Negative regulation of non-canonical NF-kappaB signal transduction	IMP	18212740
GO:1903265	Process	Positive regulation of tumor necrosis factor-mediated signaling pathway	IBA
GO:1903265	Process	Positive regulation of tumor necrosis factor-mediated signaling pathway	IMP	14674885
GO:1990138	Process	Neuron projection extension	IDA	23263657
GO:1990138	Process	Neuron projection extension	IMP	25450385

MIM	HGNC	e!Ensembl
604205	2314	ENSG00000214078

Q99829

Protein name

Copine-1 (Chromobindin 17) (Copine I)

Protein 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 calciu

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	6 → 116	C2 domain	Domain
PF00168	C2	138 → 255	C2 domain	Domain
PF07002	Copine	304 → 521	Copine	Family

Tissue specificity

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). {ECO:0000269|PubMed:12949241}.

Sequence

MAHCVTLVQLSISCDHLIDKDIGSKSDPLCVLLQDVGGGSWAELGRTERVRNCSSPEFSK
TLQLEYRFETVQKLRFGIYDIDNKTPELRDDDFLGGAECSLGQIVSSQVLTLPLMLKPGK
PAGRGTITVSAQELKDNRVVTMEVEARNLDKKDFLGKSDPFLEFFRQGDGKWHLVYRSEV
IKNNLNPTWKRFSVPVQHFCGGNPSTPIQVQCSDYDSDGSHDLIGTFHTSLAQLQAVPAE
FECIHPEKQQKKKSYKNSGTIRVKICRVETEYSFLDYVMGGCQINFTVGVDFTGSNGDPS
SPDSLHYLSPTGVNEYLMALWSVGSVVQDYDSDKLFPAFGFGAQVPPDWQVSHEFALNFN
PSNPYCAGIQGIVDAYRQALPQVRLYGPTNFAPIINHVARFAAQAAHQGTASQYFMLLLL
TDGAVTDVEATREAVVRASNLPMSVIIVGVGGADFEAMEQLDADGGPLHTRSGQAAARDI
VQFVPYRRFQNAPREALAQTVLAEVPTQLVSYFRAQGWAPLKPLPPSAKDPAQAPQA

Sequence length

537

Interactions

View interactions

	Reactome
			Glycerophospholipid biosynthesis Neutrophil degranulation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA 19	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (39)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult type dermatomyositis	Dermatomyositis	BEFREE	27153935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	31422903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25803781, 27058005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39351539	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carboxypeptidase N Deficiency	Deficiency of carboxypeptidase B	UNIPROT_DG	12560874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carboxypeptidase N Deficiency	Deficiency of carboxypeptidase B	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29207139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35101055	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29970127, 30221693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	27153935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	GWASCAT_DG	27153935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	30312344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	26932421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	18523666	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	LHGDN	18523666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31056285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	18820673	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30221693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30120957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29151113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	33780365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27452861, 29151113, 31056285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23000247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30646922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29970127, 30221693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31422903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37579195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29207139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29207139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37747823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39972314	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30120957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32066731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29151113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29151113	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SCHIZOPHRENIA 19	Schizophrenia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	27833000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	30312344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	26932421		★★★★★ ★☆☆☆☆ Found in Text Mining only

CPNE1 (copine 1)