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    CAMKV CaM kinase like vesicle associated [ Homo sapiens (human) ]

    Gene ID: 79012, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CAMKVprovided by HGNC
    Official Full Name
    CaM kinase like vesicle associatedprovided by HGNC
    Primary source
    HGNC:HGNC:28788
    See related
    Ensembl:ENSG00000164076 MIM:614993; AllianceGenome:HGNC:28788
    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
    Also known as
    1G5; VACAMKL
    Summary
    Predicted to enable calcium/calmodulin-dependent protein kinase activity and calmodulin binding activity. Predicted to be involved in modulation of chemical synaptic transmission; protein phosphorylation; and regulation of modification of postsynaptic structure. Predicted to be located in cytoplasmic vesicle membrane and plasma membrane. Predicted to be active in glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward brain (RPKM 33.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See CAMKV in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49857989..49869906, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49887886..49899806, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49895422..49907339, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49844839-49845735 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49848893-49849392 Neighboring gene microRNA 5193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19880 Neighboring gene ubiquitin like modifier activating enzyme 7 Neighboring gene TRAF interacting protein Neighboring gene RNA, 7SL, cytoplasmic 217, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49905159-49906091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49906092-49907023 Neighboring gene actin like 11, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49921589-49922090 Neighboring gene macrophage stimulating 1 receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49934943-49935443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49939657-49940330 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49940331-49941004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14376

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. 1G5: a calmodulin-binding, vesicle-associated, protein kinase-like protein enriched in forebrain neurites. Godbout M, et al. J Neurosci, 1994 Jan. PMID 8283228, Free PMC Article
    2. The pseudokinase CaMKv is required for the activity-dependent maintenance of dendritic spines. Liang Z, et al. Nat Commun, 2016 Oct 31. PMID 27796283, Free PMC Article
    3. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. So HC, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Jan 5. PMID 19367581
    4. Phosphoproteomic analysis of the developing mouse brain. Ballif BA, et al. Mol Cell Proteomics, 2004 Nov. PMID 15345747
    5. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. Taipale M, et al. Cell, 2012 Aug 31. PMID 22939624, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC8407

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium/calmodulin-dependent protein kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calmodulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of modification of postsynaptic structure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    caM kinase-like vesicle-associated protein
    Names
    testis tissue sperm-binding protein Li 52e
    vesicle-associated calmodulin-binding protein

    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_001320147.2 → NP_001307076.1  caM kinase-like vesicle-associated protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a different 3' structure compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK074899, BC001921
      Consensus CDS
      CCDS82776.1
      UniProtKB/TrEMBL
      B2RDF9
      Related
      ENSP00000418809.1, ENST00000488336.5
      Conserved Domains (3) summary
      smart00220
      Location:24 → 286
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart01104
      Location:347 → 451
      CTD; Spt5 C-terminal nonapeptide repeat binding Spt4
      cd14088
      Location:22 → 286
      STKc_CaMK_like; Catalytic domain of an Uncharacterized group of Serine/Threonine kinases with similarity to Calcium/calmodulin-dependent protein kinases

    2. NM_024046.5 → NP_076951.2  caM kinase-like vesicle-associated protein isoform 1

      See identical proteins and their annotated locations for NP_076951.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK074856, BC017363
      Consensus CDS
      CCDS33762.1
      UniProtKB/Swiss-Prot
      A6NFD4, Q6FIB8, Q8NBS8, Q8NC85, Q8NCB2, Q8NDU4, Q8WTT8, Q9BQC9, Q9H0Q5
      UniProtKB/TrEMBL
      A0A140VKD5, B2RDF9
      Related
      ENSP00000419195.1, ENST00000477224.6
      Conserved Domains (2) summary
      smart00220
      Location:24 → 286
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14088
      Location:22 → 286
      STKc_CaMK_like; Catalytic domain of an Uncharacterized group of Serine/Threonine kinases with similarity to Calcium/calmodulin-dependent protein kinases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      49857989..49869906 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      49887886..49899806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCB2.2 GenPept UniProtKB/Swiss-Prot:Q8NCB2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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