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

Gene ID: 234729, updated on 27-Nov-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. Involved in regulation of postsynaptic neurotransmitter receptor internalization. Is active in presynaptic endosome. Is expressed in cerebral cortex ventricular layer; cortical plate; 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, Nov 2024]
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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See Vac14 in Genome Data Viewer
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. 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
  2. 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
  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. 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
  5. 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

See all (39) 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 IEA
Inferred from Electronic Annotation
more info
  
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 phosphatidylinositol biosynthetic process IEA
Inferred from Electronic Annotation
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
  
part_of PAS complex IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum 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 IEA
Inferred from Electronic Annotation
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
  
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

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