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    CPNE9 copine family member 9 [ Homo sapiens (human) ]

    Gene ID: 151835, updated on 17-Jun-2019

    Summary

    Official Symbol
    CPNE9provided by HGNC
    Official Full Name
    copine family member 9provided by HGNC
    Primary source
    HGNC:HGNC:24336
    See related
    Ensembl:ENSG00000144550
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Biased expression in brain (RPKM 3.5), skin (RPKM 0.4) and 3 other tissues See more
    Orthologs

    Genomic context

    See CPNE9 in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (9703833..9729908)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (9745510..9771592)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene dual specificity phosphatase 5 pseudogene 2 Neighboring gene myotubularin related protein 14 Neighboring gene bromodomain and PHD finger containing 1 Neighboring gene 8-oxoguanine DNA glycosylase Neighboring gene calcium/calmodulin dependent protein kinase I

    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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA4217

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium-dependent phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 
    extracellular space HDA PubMed 
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    copine-9
    Names
    copine IX
    copine family member IX
    copine-like protein

    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_001308388.2NP_001295317.1  copine-9 isoform 2

      See identical proteins and their annotated locations for NP_001295317.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate 3' exon and contains an alternate 3' terminal exon, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      BC035735
      Consensus CDS
      CCDS77695.1
      UniProtKB/Swiss-Prot
      Q8IYJ1
      Related
      ENSP00000373342.3, ENST00000383831.7
      Conserved Domains (3) summary
      cd04047
      Location:148259
      C2B_Copine; C2 domain second repeat in Copine
      cd04048
      Location:14135
      C2A_Copine; C2 domain first repeat in Copine
      cl00057
      Location:269492
      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 ...
    2. NM_153635.3NP_705899.2  copine-9 isoform 1

      See identical proteins and their annotated locations for NP_705899.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BM545574, BU101942, BX453546, CA307982
      Consensus CDS
      CCDS2574.2
      UniProtKB/Swiss-Prot
      Q8IYJ1
      Related
      ENSP00000373343.3, ENST00000383832.8
      Conserved Domains (3) summary
      cd04047
      Location:148259
      C2B_Copine; C2 domain second repeat in Copine
      cd04048
      Location:14135
      C2A_Copine; C2 domain first repeat in Copine
      cd01459
      Location:269525
      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. ...

    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.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      9703833..9729908
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005747.1XP_016861236.1  copine-9 isoform X4

    2. XM_011533386.2XP_011531688.1  copine-9 isoform X1

      Conserved Domains (3) summary
      cd04047
      Location:257368
      C2B_Copine; C2 domain second repeat in Copine
      cd04048
      Location:132244
      C2A_Copine; C2 domain first repeat in Copine
      cd01459
      Location:378634
      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_011533388.2XP_011531690.1  copine-9 isoform X2

      Conserved Domains (3) summary
      cd04047
      Location:257368
      C2B_Copine; C2 domain second repeat in Copine
      cd04048
      Location:132244
      C2A_Copine; C2 domain first repeat in Copine
      cl00057
      Location:378480
      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 ...
    4. XM_011533389.2XP_011531691.1  copine-9 isoform X3

      Conserved Domains (3) summary
      cd04047
      Location:257368
      C2B_Copine; C2 domain second repeat in Copine
      cd04048
      Location:132244
      C2A_Copine; C2 domain first repeat in Copine
      cl00057
      Location:378420
      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_002959492.1 RNA Sequence

    2. XR_001740032.1 RNA Sequence

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