Format

Send to:

Choose Destination
    • Showing Current items.

    CPNE7 copine 7 [ Homo sapiens (human) ]

    Gene ID: 27132, updated on 15-Apr-2019

    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 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (89575768..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 Neighboring gene spermatogenesis associated 33

    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

    Pathways from BioSystems

    • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
      Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
      Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...

    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 
    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_014427.4NP_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)
      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 Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

      Range
      89575768..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

    Support Center