• Gene id: 8904

Gene Summary

• Gene Symbol: CPNE1   Gene   UCSC   Ensembl
• Aliases: COPN1, CPN1
• Gene name: copine 1
• Alternate names: copine-1, chromobindin 17, copine I,
• Gene location: 20q11.22 (35664899: 35626030)     Exons: 19     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 604205

Protein Summary

• Protein general information: Q99829  
  • Name: Copine 1 (Chromobindin 17) (Copine I)
  • Length: 537  
  • Mass: 59059
  • Tissue specificity: Expressed in neutrophils (at protein level) (PubMed
• Sequence:

  MAHCVTLVQLSISCDHLIDKDIGSKSDPLCVLLQDVGGGSWAELGRTERVRNCSSPEFSKTLQLEYRFETVQKLR
  FGIYDIDNKTPELRDDDFLGGAECSLGQIVSSQVLTLPLMLKPGKPAGRGTITVSAQELKDNRVVTMEVEARNLD
  KKDFLGKSDPFLEFFRQGDGKWHLVYRSEVIKNNLNPTWKRFSVPVQHFCGGNPSTPIQVQCSDYDSDGSHDLIG
  TFHTSLAQLQAVPAEFECIHPEKQQKKKSYKNSGTIRVKICRVETEYSFLDYVMGGCQINFTVGVDFTGSNGDPS
  SPDSLHYLSPTGVNEYLMALWSVGSVVQDYDSDKLFPAFGFGAQVPPDWQVSHEFALNFNPSNPYCAGIQGIVDA
  YRQALPQVRLYGPTNFAPIINHVARFAAQAAHQGTASQYFMLLLLTDGAVTDVEATREAVVRASNLPMSVIIVGV
  GGADFEAMEQLDADGGPLHTRSGQAAARDIVQFVPYRRFQNAPREALAQTVLAEVPTQLVSYFRAQGWAPLKPLP
  PSAKDPAQAPQA

• Structural information:
  • Protein Domains: (1..11-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (123..24-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (285..50-)
    (/note="VWFA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219"-)
  • Interpro: IPR000008  IPR035892  IPR037768  IPR010734  IPR002035   IPR036465  
  • Prosite: PS50004
  • CDD: cd04047 cd01459
  • STRING: ENSP00000317257
• Other Databases: GeneCards:  CPNE1  Malacards:  CPNE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903265	positive regulation of tumor necrosis factor-mediated signaling pathway	IBA	biological process
GO:0071277	cellular response to calcium ion	IBA	biological process
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	IBA	biological process
GO:0005544	calcium-dependent phospholipid binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0045666	positive regulation of neuron differentiation	IDA	biological process
GO:1990138	neuron projection extension	IDA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005215	transporter activity	TAS	molecular function
GO:0005544	calcium-dependent phospholipid binding	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0016192	vesicle-mediated transport	TAS	biological process
GO:0001786	phosphatidylserine binding	IDA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035577	azurophil granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0046474	glycerophospholipid biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043392	negative regulation of DNA binding	IDA	biological process
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:1990138	neuron projection extension	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005509	calcium ion binding	IMP	molecular function
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045666	positive regulation of neuron differentiation	IMP	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:1901223	negative regulation of NIK/NF-kappaB signaling	IMP	biological process
GO:0006508	proteolysis	IMP	biological process
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	IMP	biological process
GO:0071277	cellular response to calcium ion	IMP	biological process
GO:1903265	positive regulation of tumor necrosis factor-mediated signaling pathway	IMP	biological process
GO:0051059	NF-kappaB binding	IPI	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)