CPNE1 information

CPNE1
Identifiers
Aliases	CPNE1, COPN1, CPN1, copine 1
External IDs	OMIM: 604205; MGI: 2386621; HomoloGene: 36501; GeneCards: CPNE1; OMA:CPNE1 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q11.22 Start 35,626,031 bp[1] End 35,664,956 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 H1 Start 155,913,762 bp[2] End 155,953,885 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte canal of the cervix right lobe of thyroid gland anterior pituitary left lobe of thyroid gland right uterine tube body of uterus right ovary left ovary ectocervix Top expressed in granulocyte yolk sac thymus uterus lung white adipose tissue adrenal gland spleen placenta cerebellum More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding protein homodimerization activity transporter activity endopeptidase activity phosphatidylserine binding NF-kappaB binding protein binding calcium-dependent phospholipid binding Cellular component cytoplasm cytosol membrane plasma membrane extracellular exosome nucleus nucleoplasm nuclear membrane azurophil granule membrane Biological process cellular response to calcium ion cell differentiation positive regulation of protein kinase B signaling regulation of transcription, DNA-templated lipid metabolism positive regulation of tumor necrosis factor-mediated signaling pathway negative regulation of DNA binding negative regulation of gene expression transcription, DNA-templated proteolysis neuron projection extension negative regulation of NIK/NF-kappaB signaling glycerophospholipid biosynthetic process positive regulation of neuron differentiation vesicle-mediated transport regulation of I-kappaB kinase/NF-kappaB signaling neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8904 266692 Ensembl ENSG00000214078 ENSMUSG00000074643 UniProt Q99829 Q5JX58 Q8C166 RefSeq (mRNA) NM_001198863 NM_003915 NM_152925 NM_152926 NM_152927 NM_152928 NM_152930 NM_152931 NM_170588 NM_170590 RefSeq (protein) NP_001185792 NP_003906 NP_690902 NP_690903 NP_690904 NP_690905 NP_733467 NP_733469 Location (UCSC) Chr 20: 35.63 – 35.66 Mb Chr 2: 155.91 – 155.95 Mb PubMed search [3] [4]
Wikidata
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Copine-1 is a protein that in humans is encoded by the CPNE1 gene.^[5][6]

CPNE is a highly homologous protein first discovered in nematodes and plants. Nine CPNEs were originally discovered (CPNE1-9) and only 8 CPNEs were found in mammals (CPNE1-8). CPNE1-3 are the most widely distributed and are found in most mammalian tissues, this includes but is not limited to, the testis, kidney, brain, lung, heart, and intestine.^[7] (CPNE-1) was reported in 1998, where it was identified by isolating annexin in Paramecium.^[8]

CPNE-1 is a highly conservedCalcium-dependent membrane-binding proteins in different eukaryotes. In humans the CPNE1 gene encodes the, calcium dependant, Copine-1 protein which has an integrin A doman and two N-terminal type II C2 domains. Where the C2 domains act as calcium dependent phospholipid binding motifs and can be included in cell signaling or membrane trafficking pathways.^[9] However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. CPNE-1 may also regulate molecular events at the interface of the cell membrane and cytoplasm. 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. Sequence analysis identified multiple alternatively spliced variants in the 5' UTR. All variants encode the same protein.^[6]