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CPNE6 copine 6 [ Homo sapiens (human) ]

Gene ID: 9362, updated on 8-Jul-2021

Summary

Official Symbol
CPNE6provided by HGNC
Official Full Name
copine 6provided by HGNC
Primary source
HGNC:HGNC:2319
See related
Ensembl:ENSG00000100884 MIM:605688
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. Members of this family are calcium-dependent, phospholipid-binding proteins with C2 domains, two calcium- and phospholipid-binding domains. Through their domain structure and lipid binding capabilities, these proteins may play a role in membrane trafficking. This protein is thought to be brain-specific and has a domain structure of two N-terminal C2 domains and one von Willebrand factor A domain. It may have a role in synaptic plasticity. [provided by RefSeq, Jul 2013]
Expression
Biased expression in brain (RPKM 23.5), small intestine (RPKM 2.5) and 3 other tissues See more
Orthologs
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Genomic context

See CPNE6 in Genome Data Viewer
Location:
14q11.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24069833..24078100)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24540158..24547296)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene dehydrogenase/reductase 4 like 1 Neighboring gene capping protein regulator and myosin 1 linker 3 Neighboring gene uncharacterized LOC105370412 Neighboring gene neural retina leucine zipper Neighboring gene phosphoenolpyruvate carboxykinase 2, mitochondrial Neighboring gene DDB1 and CUL4 associated factor 11

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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding TAS
Traceable Author Statement
more info
PubMed 
enables calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phosphatidylserine binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transporter activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in clathrin-coated endocytic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endosome IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
copine-6
Names
N-copine
copine VI (neuronal)

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_001280558.2NP_001267487.1  copine-6 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL136295
    Consensus CDS
    CCDS61413.1
    UniProtKB/Swiss-Prot
    O95741
    Related
    ENSP00000440077.1, ENST00000537691.5
    Conserved Domains (3) summary
    cd04047
    Location:207321
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:75192
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:380596
    Copine; Copine
  2. NM_001385056.1NP_001371985.1  copine-6 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 2. Variants 2-5 all encode the same isoform (2).
    Source sequence(s)
    AL136295
    Conserved Domains (3) summary
    cd04047
    Location:152266
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:20137
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:325541
    Copine
  3. NM_001385057.1NP_001371986.1  copine-6 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 2. Variants 2-5 all encode the same isoform (2).
    Source sequence(s)
    AL136295
    Conserved Domains (3) summary
    cd04047
    Location:152266
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:20137
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:325541
    Copine
  4. NM_001385058.1NP_001371987.1  copine-6 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 2. Variants 2-5 all encode the same isoform (2).
    Source sequence(s)
    AL136295
    Related
    ENSP00000380211.2, ENST00000397016.6
    Conserved Domains (3) summary
    cd04047
    Location:152266
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:20137
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:325541
    Copine
  5. NM_006032.4NP_006023.1  copine-6 isoform 2

    See identical proteins and their annotated locations for NP_006023.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and initiates translation at a downstream start codon,, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AB009288, AL136295, BX118572
    Consensus CDS
    CCDS9607.1
    UniProtKB/Swiss-Prot
    O95741
    Conserved Domains (3) summary
    cd04047
    Location:152266
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:20137
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:325541
    Copine

RNA

  1. NR_169564.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL136295

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    24069833..24078100
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449747.1XP_024305515.1  copine-6 isoform X4

    Conserved Domains (2) summary
    cd04047
    Location:291
    C2B_Copine; C2 domain second repeat in Copine
    pfam07002
    Location:150366
    Copine; Copine
  2. XM_024449749.1XP_024305517.1  copine-6 isoform X5

    Conserved Domains (1) summary
    pfam07002
    Location:66282
    Copine
  3. XM_024449748.1XP_024305516.1  copine-6 isoform X5

    Conserved Domains (1) summary
    pfam07002
    Location:66282
    Copine
  4. XM_024449744.1XP_024305512.1  copine-6 isoform X1

    Conserved Domains (3) summary
    cd04047
    Location:207321
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:75192
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:380643
    Copine
  5. XM_024449745.1XP_024305513.1  copine-6 isoform X2

    Conserved Domains (3) summary
    cd04047
    Location:152266
    C2B_Copine; C2 domain second repeat in Copine
    cd04048
    Location:20137
    C2A_Copine; C2 domain first repeat in Copine
    pfam07002
    Location:325588
    Copine
  6. XM_005268217.1XP_005268274.1  copine-6 isoform X4

    See identical proteins and their annotated locations for XP_005268274.1

    UniProtKB/TrEMBL
    B3KWK1
    Conserved Domains (2) summary
    cd04047
    Location:291
    C2B_Copine; C2 domain second repeat in Copine
    pfam07002
    Location:150366
    Copine; Copine

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p13 PATCHES

    Range
    371927..379065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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