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

Summary

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, Dec 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

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_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Gene trapped (1) 1 citation
Spontaneous (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125289 (e-PCR)
- UniSTS:162111

NoName (e-PCR)
- UniSTS:224576

AA959718 (e-PCR)
- UniSTS:159816

RH125769 (e-PCR)
- UniSTS:142730

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)

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

NR_151674.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC069308, AK084520, BC052199

Related

ENSMUST00000213003.2
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

NC_000074.7 Reference GRCm39 C57BL/6J

Range

111345161..111447030

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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