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Aliases for VAC14 Gene

Aliases for VAC14 Gene

  • Vac14 Homolog (S. Cerevisiae) 2 3
  • TAX1BP2 3 4 6
  • TRX 3 4 6
  • Tax1 (Human T-Cell Leukemia Virus Type I) Binding Protein 2 2 3
  • Tax1-Binding Protein 2 3 4
  • Tax1 (Human T-Cell Leukemia Virus Type I) Binding Protein 1 3
  • Protein VAC14 Homolog 3
  • ArPIKfyve 3

External Ids for VAC14 Gene

Previous Symbols for VAC14 Gene

  • TAX1BP2

Summaries for VAC14 Gene

Entrez Gene Summary for VAC14 Gene

  • The content of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) in endosomal membranes changes dynamically with fission and fusion events that generate or absorb intracellular transport vesicles. VAC14 is a component of a trimolecular complex that tightly regulates the level of PtdIns(3,5)P2. Other components of this complex are the PtdIns(3,5)P2-synthesizing enzyme PIKFYVE (MIM 609414) and the PtdIns(3,5)P2 phosphatase FIG4 (MIM 609390). VAC14 functions as an activator of PIKFYVE (Sbrissa et al., 2007 [PubMed 17556371]).[supplied by OMIM, Feb 2010]

GeneCards Summary for VAC14 Gene

VAC14 (Vac14 Homolog (S. Cerevisiae)) is a Protein Coding gene. Diseases associated with VAC14 include t-cell leukemia and congenital hydrocephalus. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include receptor activity and kinase activator activity.

UniProtKB/Swiss-Prot for VAC14 Gene

  • The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.

Gene Wiki entry for VAC14 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VAC14 Gene

Genomics for VAC14 Gene

Genomic Location for VAC14 Gene

Start:
70,687,439 bp from pter
End:
70,801,171 bp from pter
Size:
113,733 bases
Orientation:
Minus strand

Genomic View for VAC14 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for VAC14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VAC14 Gene

Regulatory Elements for VAC14 Gene

Proteins for VAC14 Gene

  • Protein details for VAC14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08AM6-VAC14_HUMAN
    Recommended name:
    Protein VAC14 homolog
    Protein Accession:
    Q08AM6
    Secondary Accessions:
    • B3KPJ5
    • B3KSM8
    • Q13174
    • Q6IA12
    • Q7L4Y1
    • Q9BW96
    • Q9H6V6

    Protein attributes for VAC14 Gene

    Size:
    782 amino acids
    Molecular mass:
    87973 Da
    Quaternary structure:
    • Forms homooligomers. Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14. VAC14 nucleates the assembly of the complex and serves as a scaffold. Interacts with NOS1. Interacts with HTLV-1 Tax.
    SequenceCaution:
    • Sequence=AAB03813.1; Type=Miscellaneous discrepancy; Note=Unknown C-terminal region.; Evidence={ECO:0000305}; Sequence=BAB15145.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for VAC14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VAC14 Gene

Proteomics data for VAC14 Gene at MOPED

Post-translational modifications for VAC14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VAC14 Gene

No data available for DME Specific Peptides for VAC14 Gene

Domains for VAC14 Gene

Protein Domains for VAC14 Gene

UniProtKB/Swiss-Prot:

VAC14_HUMAN
Domain:
  • The C-terminal domain (residues 523-782) mediates homomeric interactions and is necessary for the formation and maintenance of the PI(3,5)P2 regulatory complex.:
    • Q08AM6
Family:
  • Belongs to the VAC14 family.:
    • Q08AM6
Similarity:
  • Contains 6 HEAT repeats.:
    • Q08AM6
genes like me logo Genes that share domains with VAC14: view

No data available for Gene Families for VAC14 Gene

Function for VAC14 Gene

Molecular function for VAC14 Gene

UniProtKB/Swiss-Prot Function: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.

Gene Ontology (GO) - Molecular Function for VAC14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity NAS 8611628
GO:0005488 binding --
GO:0005515 protein binding IPI 17161399
genes like me logo Genes that share ontologies with VAC14: view
genes like me logo Genes that share phenotypes with VAC14: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for VAC14 Gene

Localization for VAC14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VAC14 Gene

Endosome membrane. Microsome membrane. Note=Mainly associated with membranes of the late endocytic pathway.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VAC14 Gene COMPARTMENTS Subcellular localization image for VAC14 gene
Compartment Confidence
endosome 5
golgi apparatus 4
cytosol 3
endoplasmic reticulum 3
lysosome 2
vacuole 2
nucleus 1

Gene Ontology (GO) - Cellular Components for VAC14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0010008 endosome membrane IDA 17556371
GO:0031901 early endosome membrane TAS --
GO:0031902 late endosome membrane TAS --
genes like me logo Genes that share ontologies with VAC14: view

Pathways for VAC14 Gene

genes like me logo Genes that share pathways with VAC14: view

Pathways by source for VAC14 Gene

Gene Ontology (GO) - Biological Process for VAC14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007165 signal transduction NAS 8611628
GO:0016032 viral process IEA --
GO:0043550 regulation of lipid kinase activity IEA --
genes like me logo Genes that share ontologies with VAC14: view

Transcripts for VAC14 Gene

Unigene Clusters for VAC14 Gene

Vac14 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for VAC14 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^
SP1:
SP2:
SP3: - -
SP4: - - -
SP5:
SP6: -
SP7: -
SP8:

ExUns: 18 ^ 19 ^ 20a · 20b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for VAC14 Gene

GeneLoc Exon Structure for
VAC14
ECgene alternative splicing isoforms for
VAC14

Expression for VAC14 Gene

mRNA expression in normal human tissues for VAC14 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for VAC14 Gene

SOURCE GeneReport for Unigene cluster for VAC14 Gene Hs.445061

mRNA Expression by UniProt/SwissProt for VAC14 Gene

Q08AM6-VAC14_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expressions with VAC14: view

Orthologs for VAC14 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VAC14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VAC14 36
  • 99.49 (n)
  • 99.74 (a)
VAC14 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia VAC14 36
  • 89.86 (n)
  • 94.88 (a)
VAC14 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VAC14 36
  • 91.6 (n)
  • 96.55 (a)
VAC14 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vac14 36
  • 89.5 (n)
  • 94.24 (a)
Vac14 16
Vac14 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VAC14 37
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VAC14 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vac14 36
  • 89.09 (n)
  • 94.63 (a)
chicken
(Gallus gallus)
Aves VAC14 36
  • 81.81 (n)
  • 85.49 (a)
VAC14 37
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VAC14 37
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vac14 36
  • 73.28 (n)
  • 81.97 (a)
zebrafish
(Danio rerio)
Actinopterygii vac14 36
  • 72.9 (n)
  • 82.75 (a)
vac14 37
  • 82 (a)
OneToOne
wufb68e05 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000770 36
  • 59.28 (n)
  • 50.3 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5608 36
  • 55.84 (n)
  • 51.66 (a)
CG5608 37
  • 49 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K04G2.6 36
  • 47.71 (n)
  • 41.79 (a)
vacl-14 37
  • 38 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER049W 36
  • 49.03 (n)
  • 37.2 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VAC14 36
  • 47.26 (n)
  • 40.85 (a)
VAC14 37
  • 28 (a)
OneToOne
VAC14 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05193g 36
  • 46.7 (n)
  • 42.67 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G01690 36
  • 52.07 (n)
  • 47.72 (a)
rice
(Oryza sativa)
Liliopsida Os.11686 36
Os03g0223700 36
  • 53.5 (n)
  • 48.5 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02409 36
  • 51.04 (n)
  • 45.82 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC25H2.03 36
  • 46.94 (n)
  • 44.07 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10719 37
  • 50 (a)
OneToOne
Species with no ortholog for VAC14:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for VAC14 Gene

ENSEMBL:
Gene Tree for VAC14 (if available)
TreeFam:
Gene Tree for VAC14 (if available)

Paralogs for VAC14 Gene

Selected SIMAP similar genes for VAC14 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for VAC14 Gene

genes like me logo Genes that share paralogs with VAC14: view

No data available for Paralogs for VAC14 Gene

Variants for VAC14 Gene

Sequence variations from dbSNP and Humsavar for VAC14 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs713511 -- 70,792,965(+) TCCTA(C/G)GGTCA intron-variant
rs731697 -- 70,729,988(-) GCAGG(A/G)AGTGA intron-variant
rs734147 -- 70,749,019(-) CATCC(C/T)CTGCA intron-variant
rs744844 -- 70,729,248(+) GCCAA(C/T)GGCGC intron-variant
rs875858 -- 70,741,552(+) CCACA(C/T)GTGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for VAC14 Gene

Variant ID Type Subtype PubMed ID
nsv7285 OTHER Inversion 18451855
nsv517391 CNV Loss 19592680
dgv2904n71 CNV Loss 21882294
dgv2905n71 CNV Loss 21882294
dgv2906n71 CNV Loss 21882294
nsv471094 CNV Loss 18288195
nsv906885 CNV Loss 21882294
dgv2907n71 CNV Loss 21882294
nsv906888 CNV Loss 21882294
dgv2908n71 CNV Loss 21882294
dgv897e1 CNV Complex 17122850

Relevant External Links for VAC14 Gene

HapMap Linkage Disequilibrium report
VAC14

Disorders for VAC14 Gene

Relevant External Links for VAC14

Genetic Association Database (GAD)
VAC14
Human Genome Epidemiology (HuGE) Navigator
VAC14
genes like me logo Genes that share disorders with VAC14: view

No data available for UniProtKB/Swiss-Prot for VAC14 Gene

Publications for VAC14 Gene

  1. A mammalian ortholog of Saccharomyces cerevisiae Vac14 that associates with and up-regulates PIKfyve phosphoinositide 5-kinase activity. (PMID: 15542851) Sbrissa D. … Shisheva A. (Mol. Cell. Biol. 2004) 2 3 4 23
  2. Binding of Vac14 to neuronal nitric oxide synthase: Characterisation of a new internal PDZ-recognition motif. (PMID: 17161399) Lemaire J.F. … McPherson P.S. (FEBS Lett. 2006) 3 4 23
  3. Isolation of a cDNA clone, TRX encoding a human T-cell lymphotrophic virus type-I Tax1 binding protein. (PMID: 8611628) Mireskandari A. … Brady J.N. (Biochim. Biophys. Acta 1996) 3 4 23
  4. Core protein machinery for mammalian phosphatidylinositol 3,5- bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex. (PMID: 17556371) Sbrissa D. … Shisheva A. (J. Biol. Chem. 2007) 3 4 23
  5. ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality. (PMID: 18950639) Sbrissa D. … Shisheva A. (J. Mol. Biol. 2008) 3 4

Products for VAC14 Gene

Sources for VAC14 Gene

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