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CPNE5 copine 5 [ Homo sapiens (human) ]

Gene ID: 57699, updated on 1-Jun-2020

Summary

Official Symbol
CPNE5provided by HGNC
Official Full Name
copine 5provided by HGNC
Primary source
HGNC:HGNC:2318
See related
Ensembl:ENSG00000124772 MIM:604209
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
CPN5; COPN5
Summary
Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. More variants may exist, but their full-length natures could not be determined. [provided by RefSeq, Sep 2015]
Expression
Biased expression in brain (RPKM 15.7), lymph node (RPKM 8.6) and 9 other tissues See more
Orthologs

Genomic context

See CPNE5 in Genome Data Viewer
Location:
6p21.2
Exon count:
32
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (36740773..36839998, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (36708549..36807220, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RAB44, member RAS oncogene family Neighboring gene G protein-coupled receptor 166 pseudogene Neighboring gene chromosome 6 open reading frame 89 Neighboring gene peptidylprolyl isomerase like 1 Neighboring gene peptidase inhibitor 16

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42228, KIAA1599, DKFZp666C234

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
cellular response to calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of dendrite extension IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_001314017.1NP_001300946.1  copine-5 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several 3' exons and contains an alternate 3' terminal exon compared to variant 1. This results in a novel 3' coding region and 3' UTR compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AA912142, AI951562, DA265730
    Conserved Domains (1) summary
    cd04048
    Location:23135
    C2A_Copine; C2 domain first repeat in Copine
  2. NM_001314018.1NP_001300947.1  copine-5 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several 5' exons and contains an alternate 5' terminal exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 7 both encode the same isoform (c).
    Source sequence(s)
    BC036840, BC053872
    Consensus CDS
    CCDS83078.1
    UniProtKB/Swiss-Prot
    Q9HCH3
    Related
    ENSP00000376885.2, ENST00000393189.2
    Conserved Domains (1) summary
    cd01459
    Location:2262
    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_001314019.2NP_001300948.1  copine-5 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several 5' exons and contains an alternate 5' terminal exon and internal exon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4, 5, and 6 all encode the same isoform (d).
    Source sequence(s)
    BC036840, BC053872, Z85996
    UniProtKB/Swiss-Prot
    Q9HCH3
    Related
    ENST00000459703.5
    Conserved Domains (1) summary
    pfam07002
    Location:1213
    Copine; Copine
  4. NM_001314020.2NP_001300949.1  copine-5 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks several 5' exons and an internal exon and contains an alternate 5' terminal exon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4, 5, and 6 all encode the same isoform (d).
    Source sequence(s)
    BC012765, BC053872, Z85996
    UniProtKB/Swiss-Prot
    Q9HCH3
    Conserved Domains (1) summary
    pfam07002
    Location:1213
    Copine; Copine
  5. NM_001376888.1NP_001363817.1  copine-5 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 4 and 5, encodes isoform d.
    Source sequence(s)
    Z85996
  6. NM_001376889.1NP_001363818.1  copine-5 isoform e

    Status: REVIEWED

    Source sequence(s)
    KF510949, Z85996
  7. NM_001376890.1NP_001363819.1  copine-5 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 3, encodes isoform c.
    Source sequence(s)
    Z85996
  8. NM_001376891.1NP_001363820.1  copine-5 isoform f

    Status: REVIEWED

    Source sequence(s)
    Z85996
  9. NM_001376892.1NP_001363821.1  copine-5 isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variant 11, encodes isoform g.
    Source sequence(s)
    Z85996
  10. NM_001376893.1NP_001363822.1  copine-5 isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variant 10, encodes isoform g.
    Source sequence(s)
    Z85996
  11. NM_001376894.1NP_001363823.1  copine-5 isoform i

    Status: REVIEWED

    Source sequence(s)
    Z85996
  12. NM_001376895.1NP_001363824.1  copine-5 isoform h

    Status: REVIEWED

    Source sequence(s)
    Z85996
  13. NM_020939.2NP_065990.1  copine-5 isoform a

    See identical proteins and their annotated locations for NP_065990.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AI989513, BC036840, BC053872, DA265730, DB320492, Z85996
    Consensus CDS
    CCDS4825.1
    UniProtKB/Swiss-Prot
    Q9HCH3
    Related
    ENSP00000244751.2, ENST00000244751.7
    Conserved Domains (3) summary
    cd04047
    Location:177288
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:23137
    C2A_Copine; C2 domain first repeat in Copine
    cd01459
    Location:298554
    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_164866.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    KF510949, Z85996

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    36740773..36839998 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249247.2XP_005249304.1  copine-5 isoform X4

    See identical proteins and their annotated locations for XP_005249304.1

    Conserved Domains (3) summary
    cd04047
    Location:194305
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:23137
    C2A_Copine; C2 domain first repeat in Copine
    cd01459
    Location:315571
    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. XM_011514769.1XP_011513071.1  copine-5 isoform X2

    Conserved Domains (3) summary
    cd04047
    Location:177288
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:23137
    C2A_Copine; C2 domain first repeat in Copine
    cd01459
    Location:298521
    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. XM_011514768.1XP_011513070.1  copine-5 isoform X1

    Conserved Domains (3) summary
    cd04047
    Location:194305
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:23137
    C2A_Copine; C2 domain first repeat in Copine
    cd01459
    Location:315538
    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. XM_011514770.1XP_011513072.1  copine-5 isoform X3

    See identical proteins and their annotated locations for XP_011513072.1

    Conserved Domains (3) summary
    cd04047
    Location:156267
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:299
    C2A_Copine; C2 domain first repeat in Copine
    cd01459
    Location:277500
    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. XM_011514771.2XP_011513073.1  copine-5 isoform X3

    See identical proteins and their annotated locations for XP_011513073.1

    Conserved Domains (3) summary
    cd04047
    Location:156267
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:299
    C2A_Copine; C2 domain first repeat in Copine
    cd01459
    Location:277500
    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. XM_017011139.2XP_016866628.1  copine-5 isoform X7

  7. XM_011514773.2XP_011513075.1  copine-5 isoform X6

    Conserved Domains (2) summary
    cd04047
    Location:1108
    C2B_Copine; C2 domain second repeat in Copine
    cd01459
    Location:118341
    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. ...
  8. XM_011514772.1XP_011513074.1  copine-5 isoform X5

    Conserved Domains (3) summary
    cd04047
    Location:194305
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:23137
    C2A_Copine; C2 domain first repeat in Copine
    cl00057
    Location:315495
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

RNA

  1. XR_002956291.1 RNA Sequence

  2. XR_002956290.1 RNA Sequence

  3. XR_001743541.1 RNA Sequence

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