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CPNE7 copine 7 [ Homo sapiens (human) ]

Gene ID: 27132, updated on 18-Aug-2020

Summary

Official Symbol
CPNE7provided by HGNC
Official Full Name
copine 7provided by HGNC
Primary source
HGNC:HGNC:2320
See related
Ensembl:ENSG00000178773 MIM:605689
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
Summary
This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Expression
Broad expression in brain (RPKM 2.3), stomach (RPKM 1.2) and 16 other tissues See more
Orthologs

Genomic context

See CPNE7 in Genome Data Viewer
Location:
16q24.3
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (89575758..89597246)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (89642176..89663654)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SPG7 matrix AAA peptidase subunit, paraplegin Neighboring gene small nucleolar RNA, C/D box 68 Neighboring gene ribosomal protein L13 Neighboring gene dipeptidase 1 Neighboring gene charged multivesicular body protein 1A

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34192

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cellular response to calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
glycerophospholipid biosynthetic process TAS
Traceable Author Statement
more info
 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

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_014427.5NP_055242.1  copine-7 isoform b

    See identical proteins and their annotated locations for NP_055242.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (b).
    Source sequence(s)
    AC092123, AJ133798, AL539371, BU739859
    Consensus CDS
    CCDS10980.1
    UniProtKB/Swiss-Prot
    Q9UBL6
    Related
    ENSP00000268720.5, ENST00000268720.9
    Conserved Domains (3) summary
    cd04047
    Location:230342
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:22119
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:401618
    Copine; Copine
  2. NM_153636.3NP_705900.1  copine-7 isoform a

    See identical proteins and their annotated locations for NP_705900.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame segment compared to variant 2. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform b.
    Source sequence(s)
    AC092123, AJ133798, AL539371, BC064577, BU739859
    Consensus CDS
    CCDS10981.1
    UniProtKB/Swiss-Prot
    Q9UBL6
    Related
    ENSP00000317374.8, ENST00000319518.13
    Conserved Domains (3) summary
    cd04047
    Location:155267
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:22140
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:326543
    Copine; Copine

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    89575758..89597246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523000.1XP_011521302.1  copine-7 isoform X4

    Conserved Domains (3) summary
    cd04047
    Location:155267
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:22140
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:326517
    Copine; Copine
  2. XM_017023138.2XP_016878627.1  copine-7 isoform X1

  3. XM_017023139.2XP_016878628.1  copine-7 isoform X2

  4. XM_017023140.2XP_016878629.1  copine-7 isoform X3

  5. XM_011523001.3XP_011521303.1  copine-7 isoform X5

    Conserved Domains (2) summary
    cd04047
    Location:87199
    C2B_Copine; C2 domain second repeat in Copine
    pfam07002
    Location:258449
    Copine; Copine
  6. XM_017023141.1XP_016878630.1  copine-7 isoform X6

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