Human Gene CPNE1 (ENST00000397443.7_14) from GENCODE V47lift37
  Description: copine 1, transcript variant 5 (from RefSeq NM_152928.3)
Gencode Transcript: ENST00000397443.7_14
Gencode Gene: ENSG00000214078.13_20
Transcript (Including UTRs)
   Position: hg19 chr20:34,213,966-34,252,822 Size: 38,857 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr20:34,214,163-34,220,845 Size: 6,683 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:34,213,966-34,252,822)mRNA (may differ from genome)Protein (537 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CPNE1_HUMAN
DESCRIPTION: RecName: Full=Copine-1; AltName: Full=Copine I;
FUNCTION: May function in membrane trafficking. Exhibits calcium- dependent phospholipid binding properties.
SUBUNIT: Interacts with CCDC22 (By similarity).
SIMILARITY: Belongs to the copine family.
SIMILARITY: Contains 2 C2 domains.
SIMILARITY: Contains 1 VWFA domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 91.30 RPKM in Spleen
Total median expression: 2424.94 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -64.80141-0.460 Picture PostScript Text
3' UTR -39.10197-0.198 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000008 - C2_Ca-dep
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR018029 - C2_membr_targeting
IPR010734 - Copine
IPR002035 - VWF_A

Pfam Domains:
PF00168 - C2 domain
PF07002 - Copine

SCOP Domains:
69318 - Integrin alpha N-terminal domain
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
53300 - vWA-like

ModBase Predicted Comparative 3D Structure on Q99829
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001786 phosphatidylserine binding
GO:0004175 endopeptidase activity
GO:0005215 transporter activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005544 calcium-dependent phospholipid binding
GO:0042803 protein homodimerization activity
GO:0051059 NF-kappaB binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006508 proteolysis
GO:0006629 lipid metabolic process
GO:0010629 negative regulation of gene expression
GO:0016192 vesicle-mediated transport
GO:0030154 cell differentiation
GO:0043122 regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043312 neutrophil degranulation
GO:0043392 negative regulation of DNA binding
GO:0045666 positive regulation of neuron differentiation
GO:0046474 glycerophospholipid biosynthetic process
GO:0051897 positive regulation of protein kinase B signaling
GO:0071277 cellular response to calcium ion
GO:1901223 negative regulation of NIK/NF-kappaB signaling
GO:1903265 positive regulation of tumor necrosis factor-mediated signaling pathway
GO:1990138 neuron projection extension

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031965 nuclear membrane
GO:0035577 azurophil granule membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  JD126870 - Sequence 107894 from Patent EP1572962.
AF314092 - Homo sapiens copine I (CPNE1) mRNA, partial cds.
U83246 - Homo sapiens copine I mRNA, complete cds.
BC001142 - Homo sapiens copine I, mRNA (cDNA clone MGC:1142 IMAGE:3502122), complete cds.
AB209827 - Homo sapiens mRNA for copine I variant protein.
JD114618 - Sequence 95642 from Patent EP1572962.
JD496918 - Sequence 477942 from Patent EP1572962.
JD107251 - Sequence 88275 from Patent EP1572962.
KJ892652 - Synthetic construct Homo sapiens clone ccsbBroadEn_02046 CPNE1 gene, encodes complete protein.
CR456790 - Homo sapiens full open reading frame cDNA clone RZPDo834H014D for gene CPNE1, copine I; complete cds, incl. stopcodon.
BC021010 - Homo sapiens copine I, mRNA (cDNA clone IMAGE:4074508).
AK308795 - Homo sapiens cDNA, FLJ98836.
CU674576 - Synthetic construct Homo sapiens gateway clone IMAGE:100017693 5' read CPNE1 mRNA.
JD026259 - Sequence 7283 from Patent EP1572962.
DQ655943 - Homo sapiens clone UGL2a06, mRNA sequence.
DQ655944 - Homo sapiens clone UGL2c06, mRNA sequence.
DQ655945 - Homo sapiens clone UGL2d06, mRNA sequence.
DQ655946 - Homo sapiens clone UGL2e06, mRNA sequence.
DQ656050 - Homo sapiens clone UGL055-A-E5, mRNA sequence.
JD028002 - Sequence 9026 from Patent EP1572962.
JD022947 - Sequence 3971 from Patent EP1572962.
JD020283 - Sequence 1307 from Patent EP1572962.
JD034214 - Sequence 15238 from Patent EP1572962.
JD025422 - Sequence 6446 from Patent EP1572962.
JD027238 - Sequence 8262 from Patent EP1572962.
JD033490 - Sequence 14514 from Patent EP1572962.
JD024641 - Sequence 5665 from Patent EP1572962.
JD021600 - Sequence 2624 from Patent EP1572962.
JD024454 - Sequence 5478 from Patent EP1572962.
JD026364 - Sequence 7388 from Patent EP1572962.
JD025409 - Sequence 6433 from Patent EP1572962.
JD305131 - Sequence 286155 from Patent EP1572962.
AB018308 - Homo sapiens KIAA0765 mRNA for KIAA0765 protein.
AF345332 - Homo sapiens SWAN mRNA, complete cds.
AF393214 - Homo sapiens swan mRNA, complete cds; alternatively spliced.
AK092239 - Homo sapiens cDNA FLJ34920 fis, clone NT2RP7002802, highly similar to RNA-binding protein 12.
BC012787 - Homo sapiens RNA binding motif protein 12, mRNA (cDNA clone MGC:16487 IMAGE:3956772), complete cds.
BC013981 - Homo sapiens RNA binding motif protein 12, mRNA (cDNA clone MGC:19528 IMAGE:3845090), complete cds.
AK299371 - Homo sapiens cDNA FLJ58274 complete cds, highly similar to RNA-binding protein 12.
JD028864 - Sequence 9888 from Patent EP1572962.
JD142383 - Sequence 123407 from Patent EP1572962.
JD407186 - Sequence 388210 from Patent EP1572962.
JD462583 - Sequence 443607 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q99829 (Reactome details) participates in the following event(s):

R-HSA-5333678 CPNEs bind PL
R-HSA-6798739 Exocytosis of azurophil granule membrane proteins
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-6798695 Neutrophil degranulation
R-HSA-1483257 Phospholipid metabolism
R-HSA-168249 Innate Immune System
R-HSA-556833 Metabolism of lipids
R-HSA-168256 Immune System
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: CPN1, CPNE1 , CPNE1_HUMAN, E1P5Q4, ENST00000397443.1, ENST00000397443.2, ENST00000397443.3, ENST00000397443.4, ENST00000397443.5, ENST00000397443.6, NM_152928, Q6IBL3, Q99829, Q9H243, Q9NTZ7, uc318zai.1, uc318zai.2
UCSC ID: ENST00000397443.7_14
RefSeq Accession: NM_152925.3
Protein: Q99829 (aka CPNE1_HUMAN or CNE1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.