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CPNE1 copine 1 [ Homo sapiens (human) ]

Gene ID: 8904, updated on 16-Apr-2024

Summary

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Official Symbol
CPNE1provided by HGNC
Official Full Name
copine 1provided by HGNC
Primary source
HGNC:HGNC:2314
See related
Ensembl:ENSG00000214078 MIM:604205; AllianceGenome:HGNC:2314
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CPN1; COPN1
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 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]
Expression
Ubiquitous expression in spleen (RPKM 33.6), placenta (RPKM 33.3) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See CPNE1 in Genome Data Viewer
Location:
20q11.22
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35626044..35664900, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (37347020..37385875, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (34213966..34252822, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene fer-1 like family member 4 (pseudogene) Neighboring gene uncharacterized LOC124904891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34205257-34206207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34206208-34207157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17789 Neighboring gene sperm associated antigen 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:34223677-34224176 Neighboring gene RN7SK pseudogene 271 Neighboring gene RNA, U6 small nuclear 759, pseudogene Neighboring gene RNA binding motif protein 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17790 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34251645-34252150 Neighboring gene Sharpr-MPRA regulatory region 3991 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34252655-34253159 Neighboring gene NFS1 cysteine desulfurase Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34286841-34287500 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34287501-34288160 Neighboring gene reactive oxygen species modulator 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Overexpression of Copines-1 is associated with clinicopathological parameters and poor outcome in gastric cancer. Yang J, et al. J Clin Lab Anal, 2022 Nov. PMID 36310511, Free PMC Article
  2. Up-regulation of CPNE1 Appears to Enhance Cancer Progression in HER2-positive and Luminal A Breast Cancer Cells. Choi HY, et al. Anticancer Res, 2022 Jul. PMID 35790271
  3. CPNE1 predicts poor prognosis and promotes tumorigenesis and radioresistance via the AKT singling pathway in triple-negative breast cancer. Shao Z, et al. Mol Carcinog, 2020 May. PMID 32181526, Free PMC Article
  4. High expression of Copine 1 promotes cell growth and metastasis in human lung adenocarcinoma. Liu S, et al. Int J Oncol, 2018 Dec. PMID 30221693, Free PMC Article
  5. CPNE1 silencing inhibits the proliferation, invasion and migration of human osteosarcoma cells. Jiang Z, et al. Oncol Rep, 2018 Feb. PMID 29207139, Free PMC Article

See all (67) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CPNE1, A Potential Therapeutic Target in Nasopharyngeal Carcinoma, Affects Cell Growth and Radiation Resistance.
    Title: CPNE1, A Potential Therapeutic Target in Nasopharyngeal Carcinoma, Affects Cell Growth and Radiation Resistance.
  2. Silencing of CPNE1-TRAF2 Axis Restrains the Development of Pancreatic Cancer.
    Title: Silencing of CPNE1-TRAF2 Axis Restrains the Development of Pancreatic Cancer.
  3. Overexpression of Copines-1 is associated with clinicopathological parameters and poor outcome in gastric cancer.
    Title: Overexpression of Copines-1 is associated with clinicopathological parameters and poor outcome in gastric cancer.
  4. Up-regulation of CPNE1 Appears to Enhance Cancer Progression in HER2-positive and Luminal A Breast Cancer Cells.
    Title: Up-regulation of CPNE1 Appears to Enhance Cancer Progression in HER2-positive and Luminal A Breast Cancer Cells.
  5. CPNE1 promotes non-small cell lung cancer progression by interacting with RACK1 via the MET signaling pathway.
    Title: CPNE1 promotes non-small cell lung cancer progression by interacting with RACK1 via the MET signaling pathway.
  6. Prognostic Value of Copine 1 in Patients With Renal Cell Carcinoma.
    Title: Prognostic Value of Copine 1 in Patients With Renal Cell Carcinoma.
  7. High CPNE1 expression is associated with tumorigenesis and radioresistance via the AKT singling pathway in triple-negative breast cancer.
    Title: CPNE1 predicts poor prognosis and promotes tumorigenesis and radioresistance via the AKT singling pathway in triple-negative breast cancer.
  8. We observed that knockdown of CPNE1 and increased expression of miR-335-5p inhibits cell proliferation and motility in NSCLC cells, and found that CPNE1 was a target of miR-335-5p.
    Title: CPNE1 is a target of miR-335-5p and plays an important role in the pathogenesis of non-small cell lung cancer.
  9. Study find that CPNE1 expression is upregulated in non-small cell lung cancer (NSCLC) and associated with advanced TNM stage, lymph node and distant metastasis. Furthermore, its knockdown inhibits the cell cycle in NSCLC cells. These data strongly suggest that CPNE1 is an oncogene in NSCLC and serves an important role in tumorigenesis of NSCLC progression.
    Title: High expression of Copine 1 promotes cell growth and metastasis in human lung adenocarcinoma.
  10. Results demonstrated that CPNE1 was highly expressed in the osteosarcoma (OS) tissues and cell lines. Its knockdown significantly inhibited cell proliferation, colony formation, invasion and metastasis in OS cell lines.
    Title: CPNE1 silencing inhibits the proliferation, invasion and migration of human osteosarcoma cells.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: NFS1

Homology

Clone Names

  • MGC1142

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NF-kappaB binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables calcium ion binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables phosphatidylserine binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to calcium ion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in lipid metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of non-canonical NF-kappaB signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neuron projection extension IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in neuron projection extension IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of neuron differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of neuron differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of tumor necrosis factor-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of tumor necrosis factor-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in proteolysis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of canonical NF-kappaB signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of canonical NF-kappaB signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in vesicle-mediated transport TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in azurophil granule membrane TAS
Traceable Author Statement
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
copine-1
Names
chromobindin 17
copine I

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001198863.2 → NP_001185792.1  copine-1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses a different splice site in the 5' UTR and in the 3' coding region, compared to variant 1. The resulting protein (isoform c) is shorter by one amino acid when it is compared to isoform a.
    Source sequence(s)
    BC021010, BG231745, BQ433414
    UniProtKB/TrEMBL
    F2Z2V0
    Related
    ENSP00000415597.1, ENST00000437340.5
    Conserved Domains (3) summary
    cd04047
    Location:138 → 245
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:6 → 124
    C2A_Copine; C2 domain first repeat in Copine
    cd01459
    Location:251 → 508
    vWA_copine_like; VWA Copine: Copines are phospholipid-binding proteins originally identified in paramecium. They are found in human and orthologues have been found in C. elegans and Arabidopsis Thaliana. None have been found in D. Melanogaster or S. Cereviciae. ...

  2. NM_003915.6 → NP_003906.2  copine-1 isoform b

    See identical proteins and their annotated locations for NP_003906.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses a different exon in its 5' UTR and 5' coding region, compared to variant 1. It encodes isoform b, which has a longer and distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AW964878, BC001142, U83246
    Consensus CDS
    CCDS46595.1
    UniProtKB/TrEMBL
    B0QZ18, F2Z2V0
    Related
    ENSP00000317257.5, ENST00000317677.9
    Conserved Domains (3) summary
    cd04047
    Location:143 → 250
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:11 → 129
    C2A_Copine; C2 domain first repeat in Copine
    cd01459
    Location:256 → 514
    vWA_copine_like; VWA Copine: Copines are phospholipid-binding proteins originally identified in paramecium. They are found in human and orthologues have been found in C. elegans and Arabidopsis Thaliana. None have been found in D. Melanogaster or S. Cereviciae. ...

  3. NM_152925.3 → NP_690902.1  copine-1 isoform a

    See identical proteins and their annotated locations for NP_690902.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the predominant transcript.
    Source sequence(s)
    BC001142, DB091531
    Consensus CDS
    CCDS13260.1
    UniProtKB/Swiss-Prot
    E1P5Q4, Q6IBL3, Q99829, Q9H243, Q9NTZ7
    UniProtKB/TrEMBL
    F2Z2V0
    Related
    ENSP00000380585.1, ENST00000397443.7
    Conserved Domains (3) summary
    cd04047
    Location:138 → 245
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:6 → 124
    C2A_Copine; C2 domain first repeat in Copine
    cd01459
    Location:251 → 509
    vWA_copine_like; VWA Copine: Copines are phospholipid-binding proteins originally identified in paramecium. They are found in human and orthologues have been found in C. elegans and Arabidopsis Thaliana. None have been found in D. Melanogaster or S. Cereviciae. ...

  4. NM_152926.3 → NP_690903.1  copine-1 isoform a

    See identical proteins and their annotated locations for NP_690903.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses a different splice site which creates a shorter 5' UTR, compared to variant 1.
    Source sequence(s)
    BC001142, DB091531
    Consensus CDS
    CCDS13260.1
    UniProtKB/Swiss-Prot
    E1P5Q4, Q6IBL3, Q99829, Q9H243, Q9NTZ7
    UniProtKB/TrEMBL
    F2Z2V0
    Related
    ENSP00000380584.1, ENST00000397442.5
    Conserved Domains (3) summary
    cd04047
    Location:138 → 245
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:6 → 124
    C2A_Copine; C2 domain first repeat in Copine
    cd01459
    Location:251 → 509
    vWA_copine_like; VWA Copine: Copines are phospholipid-binding proteins originally identified in paramecium. They are found in human and orthologues have been found in C. elegans and Arabidopsis Thaliana. None have been found in D. Melanogaster or S. Cereviciae. ...

  5. NM_152927.3 → NP_690904.1  copine-1 isoform a

    See identical proteins and their annotated locations for NP_690904.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an additional exon in its 5' UTR, compared to variant 1.
    Source sequence(s)
    BC001142, BG701713
    Consensus CDS
    CCDS13260.1
    UniProtKB/Swiss-Prot
    E1P5Q4, Q6IBL3, Q99829, Q9H243, Q9NTZ7
    UniProtKB/TrEMBL
    F2Z2V0
    Conserved Domains (3) summary
    cd04047
    Location:138 → 245
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:6 → 124
    C2A_Copine; C2 domain first repeat in Copine
    cd01459
    Location:251 → 509
    vWA_copine_like; VWA Copine: Copines are phospholipid-binding proteins originally identified in paramecium. They are found in human and orthologues have been found in C. elegans and Arabidopsis Thaliana. None have been found in D. Melanogaster or S. Cereviciae. ...

  6. NM_152928.3 → NP_690905.1  copine-1 isoform a

    See identical proteins and their annotated locations for NP_690905.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an additional exon in its 5' UTR, compared to variant 1.
    Source sequence(s)
    BC001142, DA983782
    Consensus CDS
    CCDS13260.1
    UniProtKB/Swiss-Prot
    E1P5Q4, Q6IBL3, Q99829, Q9H243, Q9NTZ7
    UniProtKB/TrEMBL
    F2Z2V0
    Related
    ENSP00000336945.4, ENST00000352393.8
    Conserved Domains (3) summary
    cd04047
    Location:138 → 245
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:6 → 124
    C2A_Copine; C2 domain first repeat in Copine
    cd01459
    Location:251 → 509
    vWA_copine_like; VWA Copine: Copines are phospholipid-binding proteins originally identified in paramecium. They are found in human and orthologues have been found in C. elegans and Arabidopsis Thaliana. None have been found in D. Melanogaster or S. Cereviciae. ...

RNA

  1. NR_037188.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC001142, DB091531
    Related
    ENST00000401607.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    35626044..35664900 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    37347020..37385875 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152930.1: Suppressed sequence

    Description
    NM_152930.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_152931.1: Suppressed sequence

    Description
    NM_152931.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99829.1 GenPept UniProtKB/Swiss-Prot:Q99829

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