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    Vac14 Vac14 homolog (S. cerevisiae) [ Mus musculus (house mouse) ]

    Gene ID: 234729, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Vac14provided by MGI
    Official Full Name
    Vac14 homolog (S. cerevisiae)provided by MGI
    Primary source
    MGI:MGI:2157980
    See related
    Ensembl:ENSMUSG00000010936 AllianceGenome:MGI:2157980
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Trx; ingls; Tax1bp2; D8Wsu151e
    Summary
    Predicted to enable identical protein binding activity and kinase activator activity. Predicted to be involved in phosphatidylinositol biosynthetic process and positive regulation of kinase activity. Predicted to act upstream of or within response to osmotic stress. Predicted to be located in cytosol and vacuolar membrane. Predicted to be part of PAS complex. Predicted to be active in endosome membrane. Predicted to be extrinsic component of vacuolar membrane. Is expressed in embryo and extraembryonic component. Human ortholog(s) of this gene implicated in striatonigral degeneration. Orthologous to human VAC14 (VAC14 component of PIKFYVE complex). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 25.8), ovary adult (RPKM 22.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 E1; 8 57.59 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (111345161..111447030)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (110618529..110720398)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene HYDIN, axonemal central pair apparatus protein Neighboring gene predicted gene, 35676 Neighboring gene STARR-seq mESC enhancer starr_22677 Neighboring gene predicted gene, 21283 Neighboring gene STARR-seq mESC enhancer starr_22680 Neighboring gene STARR-positive B cell enhancer ABC_E5040 Neighboring gene nuclear encoded tRNA glycine 11 (anticodon GCC) Neighboring gene nuclear encoded tRNA glycine 10 (anticodon GCC) Neighboring gene predicted gene, 53454 Neighboring gene MTSS I-BAR domain containing 2 Neighboring gene predicted gene 15894 Neighboring gene interleukin 34

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P₂ and PI(5)P. Zhang Y, et al. EMBO J, 2012 Aug 15. PMID 22842785, Free PMC Article
    2. Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. Lenk GM, et al. PLoS Genet, 2011 Jun. PMID 21655088, Free PMC Article
    3. Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2. Ferguson CJ, et al. Hum Mol Genet, 2009 Dec 15. PMID 19793721, Free PMC Article
    4. Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice. Zhang Y, et al. Proc Natl Acad Sci U S A, 2007 Oct 30. PMID 17956977, Free PMC Article
    5. ArPIKfyve-PIKfyve interaction and role in insulin-regulated GLUT4 translocation and glucose transport in 3T3-L1 adipocytes. Ikonomov OC, et al. Exp Cell Res, 2007 Jul 1. PMID 17475247, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants.
      Title: The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants.
    2. Thus, VAC14, PI(3,5)P(2) and/or PI(5)P play a role in controlling postsynaptic function via regulation of endocytic cycling of AMPA receptors.
      Title: Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P₂ and PI(5)P.
    3. a novel regulatory mechanism whereby ArPIKfyve enhances Sac3 abundance by attenuating Sac3 proteasome-dependent degradation and suggest that a failure of this mechanism could be the primary molecular defect in the pathogenesis of CMT4J.
      Title: ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder.
    4. The authors show that Vac14 exerts an effect as a scaffold for the PI(3,5)P2 regulatory complex by direct contact with the known regulators of PI(3,5)P2: Fig4, Fab1, Vac7 and Atg18.
      Title: VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse.
    5. report the characterization of a mouse mutant lacking Vac14, a regulator of PI(3,5)P(2) synthesis
      Title: Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice.
    6. The data demonstrate for the first time a physical association between functionally related PIKfyve and ArPIKfyve in 3T3-L1 adipocytes.
      Title: ArPIKfyve-PIKfyve interaction and role in insulin-regulated GLUT4 translocation and glucose transport in 3T3-L1 adipocytes.
    7. This publication pertains to studies in yeast.
      Title: Osmotic stress-induced increase of phosphatidylinositol 3,5-bisphosphate requires Vac14p, an activator of the lipid kinase Fab1p.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC38230

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables kinase activator activity ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in phosphatidylinositol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within response to osmotic stress ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of PAS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in presynaptic endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in presynaptic endosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in vacuolar membrane ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein VAC14 homolog
    Names
    Tax1 (human T-cell leukemia virus type I) binding protein 1
    Tax1 (human T-cell leukemia virus type I) binding protein 2
    vacuole morphology 14

    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_146216.3 → NP_666328.2  protein VAC14 homolog

      See identical proteins and their annotated locations for NP_666328.2

      Status: VALIDATED

      Source sequence(s)
      AC069308, BC052199
      Consensus CDS
      CCDS22663.1
      UniProtKB/Swiss-Prot
      Q3TAX7, Q80WQ2, Q8C8K8
      UniProtKB/TrEMBL
      Q8CCX6
      Related
      ENSMUSP00000034190.10, ENSMUST00000034190.11
      Conserved Domains (3) summary
      pfam11916
      Location:543 → 717
      Vac14_Fig4_bd; Vacuolar protein 14 C-terminal Fig4p binding
      pfam12755
      Location:67 → 163
      Vac14_Fab1_bd; Vacuolar 14 Fab1-binding region
      sd00044
      Location:94 → 122
      HEAT; HEAT repeat [structural motif]

    RNA

    1. NR_151674.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC069308, AK084520, BC052199
      Related
      ENSMUST00000213003.2

    2. NR_151675.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC069308, AC139245

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      111345161..111447030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530918.3 → XP_006530981.1  protein VAC14 homolog isoform X1

      UniProtKB/TrEMBL
      Q8CCX6
      Conserved Domains (3) summary
      sd00044
      Location:94 → 122
      HEAT; HEAT repeat [structural motif]
      pfam11916
      Location:542 → 678
      Vac14_Fig4_bd; Vacuolar protein 14 C-terminal Fig4p binding
      pfam12755
      Location:67 → 163
      Vac14_Fab1_bd; Vacuolar 14 Fab1-binding region

    RNA

    1. XR_003947268.1 RNA Sequence

    2. XR_003947269.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80WQ2.1 GenPept UniProtKB/Swiss-Prot:Q80WQ2

    Gene LinkOut

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

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