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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VAC14 Gene

protein-coding   GIFtS: 59
GCID: GC16M070721

Vac14 Homolog (S. Cerevisiae)

(Previous name: Tax1 (human T-cell leukemia virus type I) binding protein...)
(Previous symbol: TAX1BP2)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Vac14 Homolog (S. Cerevisiae)1 2     Tax1-Binding Protein 22 3
TAX1BP21 2 3 5     ArPIKfyve2
TRX2 3 5     Protein VAC14 Homolog2
Tax1 (Human T-Cell Leukemia Virus Type I) Binding Protein 21 2     Tax1 (Human T-Cell Leukemia Virus Type I) Binding Protein 12

External Ids:    HGNC: 255071   Entrez Gene: 556972   Ensembl: ENSG000001030437   OMIM: 6046325   UniProtKB: Q08AM63   

Export aliases for VAC14 gene to outside databases

Previous GC identifers: GC16M069280 GC16M056552


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 communicating hydrocephalus, and t-cell leukemia, and among its related super-pathways are Metabolism and Synthesis of PIPs at the early endosome membrane. GO annotations related to this gene include receptor activity and kinase activator activity.

UniProtKB/Swiss-Prot: VAC14_HUMAN, Q08AM6
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 Wiki entry for VAC14 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VAC14 gene promoter:
         NF-1   Pbx1a   GCNF   Nkx2-5   CREB   GCNF-1   deltaCREB   ARP-1   GCNF-2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVAC14 promoter sequence
   Search SABiosciences Chromatin IP Primers for VAC14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VAC14


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.2   HGNC cytogenetic band: 16q22.1

VAC14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VAC14 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M070721:  view genomic region     (about GC identifiers)

Start:
70,721,342 bp from pter      End:
70,835,064 bp from pter
Size:
113,723 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VAC14_HUMAN, Q08AM6 (See protein sequence)
Recommended Name: Protein VAC14 homolog  
Size: 782 amino acids; 87973 Da
Subunit: 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
Subcellular location: Endosome membrane. Microsome membrane (By similarity). Note=Mainly associated with membranes
of the late endocytic pathway
Sequence caution: Sequence=AAB03813.1; Type=Miscellaneous discrepancy; Note=Unknown C-terminal region;
Sequence=BAB15145.1; Type=Erroneous initiation;
Secondary accessions: B3KPJ5 Q13174 Q6IA12 Q7L4Y1 Q9BW96 Q9H6V6

Explore the universe of human proteins at neXtProt for VAC14: NX_Q08AM6

Explore proteomics data for VAC14 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q08AM6

  • VAC14 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    VAC14 Protein Expression
    REFSEQ proteins: NP_060522.3  
    ENSEMBL proteins: 
     ENSP00000463485   ENSP00000457809   ENSP00000261776   ENSP00000454650   ENSP00000439284  
     ENSP00000455731  
    Reactome Protein details: Q08AM6
    Human Recombinant Protein Products for VAC14: 
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    Cloud-Clone Corp. Proteins for VAC14 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005783endoplasmic reticulum IEA--
    GO:0010008endosome membrane IDA17556371
    GO:0031901early endosome membrane TAS--
    GO:0031902late endosome membrane TAS--

    VAC14 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR026825 VAC14
     IPR011989 ARM-like
     IPR021841 VAC14_Fig4p-bd
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q08AM6

    ProtoNet protein and cluster: Q08AM6

    1 Blocks protein domain: IPB000357 HEAT repeat

    UniProtKB/Swiss-Prot: VAC14_HUMAN, Q08AM6
    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
    Similarity: Belongs to the VAC14 family
    Similarity: Contains 6 HEAT repeats


    VAC14 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VAC14_HUMAN, Q08AM6
    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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity NAS8611628
    GO:0005488binding ----
    GO:0005515protein binding IPI17161399
    GO:0019209kinase activator activity IEA--
         
    VAC14 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for VAC14:
     Decreased Wnt reporter activit  Increased HPV18 LCR reporter a 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Vac14):
     behavior/neurological  cardiovascular system  cellular  growth/size  integument 
     mortality/aging  nervous system  pigmentation 

    VAC14 for phenotypes           About GeneDecksing

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for VAC14 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Phospholipid metabolism
    Metabolism of lipids and lipoproteins1.00
    PI Metabolism1.00
    Metabolism1.00
    Synthesis of PIPs at the early endosome membrane1.00
    Synthesis of PIPs at the late endosome membrane1.00
    Phospholipid metabolism1.00
    Synthesis of PIPs at the Golgi membrane1.00
    2Synthesis of PIPs at the early endosome membrane
    Synthesis of PIPs at the early endosome membrane0.64
    Synthesis of PIPs at the Golgi membrane0.36
    Synthesis of PIPs at the late endosome membrane0.64
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4PI Metabolism
    PI Metabolism0.66
    5Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/14        Reactome Pathways for VAC14 (see all 14)
        Metabolism
    PI Metabolism
    Metabolism
    Phospholipid metabolism
    Synthesis of PIPs at the Golgi membrane


    2         Kegg Pathways  (Kegg details for VAC14):
        HTLV-I infection
    Viral carcinogenesis


    VAC14 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VAC14

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/114 Interacting proteins for VAC14 (Q08AM62, 3 ENSP000002617764) via UniProtKB, MINT, STRING, and/or I2D (see all 114)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NOS1P294752, 3, ENSP000003207584MINT-3999924 MINT-3999953 MINT-3999982 MINT-3999902 MINT-3999876 I2D: score=3 STRING: ENSP00000320758
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    FIG4Q925622, 3, ENSP000002301244MINT-7277770 I2D: score=6 STRING: ENSP00000230124
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0007165signal transduction NAS8611628
    GO:0019048modulation by virus of host morphology or physiology IEA--
    GO:0044281small molecule metabolic process TAS--

    VAC14 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VAC14

    Search CenterWatch for drugs/clinical trials and news about VAC14

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for VAC14 gene: 
    NM_018052.3  

    Unigene Cluster for VAC14:

    Vac14 homolog (S. cerevisiae)
    Hs.445061  [show with all ESTs]
    Unigene Representative Sequence: AK128439
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000567648 ENST00000568886(uc002ezl.3) ENST00000261776(uc002ezm.3 uc010cfw.3 uc002ezn.3)
    ENST00000571759(uc002ezo.1) ENST00000568548 ENST00000536184 ENST00000564512
    ENST00000566416 ENST00000564685(uc010cfx.1) ENST00000561879 ENST00000563662
    ENST00000566655

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    Additional mRNA sequence: 

    AK001167.1 AK025479.1 AK056433.1 AK090627.1 AK128439.1 AK297564.1 AK307766.1 AK310466.1 
    AL137396.1 BC000536.2 BC007214.1 BC110072.1 BC110852.1 BC125108.1 BC125109.1 CR457343.1 
    U25801.1 

    16 DOTS entries:

    DT.444549  DT.100025998  DT.99987608  DT.100794472  DT.402903  DT.120699564  DT.97809091  DT.102830706 
    DT.120699558  DT.91674240  DT.120699514  DT.87046896  DT.95326400  DT.97847456  DT.99963761  DT.75112160 

    24/258 AceView cDNA sequences (see all 258):

    BQ722099 BM664299 BM904117 CA443836 BU509412 BC007214 AI076914 CA307115 
    BU737693 NM_018052 CB528557 BU846407 AW138702 AI423752 BQ677264 BC000536 
    BQ014101 BX344569 CF272267 AI150352 BQ682774 CA389947 BU732158 AI364652 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for VAC14 (see all 8)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for VAC14

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    VAC14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGTGTGTG
    VAC14 Expression
    About this image


    See VAC14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VAC14

    SOURCE GeneReport for Unigene cluster: Hs.445061

    UniProtKB/Swiss-Prot: VAC14_HUMAN, Q08AM6
    Tissue specificity: Ubiquitously expressed

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for VAC14 gene from 9/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vac141 , 5 Vac14 homolog (S. cerevisiae)1, 5 89.5(n)1
    94.24(a)1
      8 (57.59 cM)5
    2347291  NM_146216.21  NP_666328.21 
     1106186385 
    chicken
    (Gallus gallus)
    Aves VAC141 Vac14 homolog (S. cerevisiae) 81.81(n)
    85.49(a)
      415678  NM_001030564.1  NP_001025735.1 
    lizard
    (Anolis carolinensis)
    Reptilia VAC146
    Uncharacterized protein
    85(a)
    1 ↔ 1
    GL343539.1(165078-227497)
    zebrafish
    (Danio rerio)
    Actinopterygii wufb68e052 Transcribed sequence with moderate similarity to protein more 79.37(n)    BQ480727.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG56081 CG5608 55.74(n)
    51.21(a)
      41543  NM_141951.1  NP_650208.1 
    worm
    (Caenorhabditis elegans)
    Secernentea K04G2.61 Protein K04G2.6 47.46(n)
    41.49(a)
      172589  NM_059814.2  NP_492215.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VAC14(YLR386W)4
    VAC141
    Protein involved in regulated synthesis of PtdIns(3,5)P(2), more4
    Vac14p1
    42.54(n)1
    34.48(a)1
      12(893628-896270)4
    8511021, 4  NP_013490.31  NP_013490.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G016901 hypothetical protein 52.43(n)
    47.94(a)
      814698  NM_126230.2  NP_565275.1 
    rice
    (Oryza sativa)
    Liliopsida Os.116862 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.9(n)    AK068416.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VAC14 gene
    1 SIMAP similar gene for VAC14 using alignment to 6 protein entries:     VAC14_HUMAN (see all proteins):
    DKFZp434J032

    VAC14 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for VAC14
    PGOHUM00000247753


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2028 SNPs in VAC14 are shown (see all 2028)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs118641861,2
    C,F,A,H--70722103(+) GGCCTG/CTGGGC 1 -- int17Minor allele frequency- C:0.22NS NA CSA WA 330
    rs1479520231,2
    C--70722134(+) CTCTT-/CCGTCA
    TGGCGGGC
    CCCAG
    1 -- int10--------
    rs1490795471,2
    --70722291(+) GTTTAC/TGAGTG 1 -- int10--------
    rs1431494291,2
    --70722362(+) ACAGGA/GTCTGG 1 -- int10--------
    rs1512199931,2
    --70722541(+) AATGCC/TGGTCT 1 -- int10--------
    rs284832991,2
    C,F--70722542(+) ATGCCG/AGTCTC 1 -- int11Minor allele frequency- A:0.03WA 118
    rs49854161,2
    C,F,A,H--70722940(+) CCTTCA/CAGTTT 1 -- int127Minor allele frequency- C:0.38NS EA NA CSA WA 2770
    rs1889090111,2
    --70722979(+) GAAGGC/GGGGTG 1 -- int10--------
    rs735750391,2
    C,F--70722988(+) TGCAGG/ACACTG 1 -- int13Minor allele frequency- A:0.16WA 122
    rs1817158601,2
    --70723050(+) CCTAGC/TGGTGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for VAC14 (70721342 - 70835064 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for VAC14 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv517391CNV Loss19592680
    dgv2904n71CNV Loss21882294
    dgv2908n71CNV Loss21882294
    dgv2906n71CNV Loss21882294
    dgv2905n71CNV Loss21882294
    nsv906885CNV Loss21882294
    nsv906888CNV Loss21882294
    dgv2907n71CNV Loss21882294
    nsv471094CNV Loss18288195
    dgv897e1CNV Complex17122850

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing VAC14
    DNA2.0 Custom Variant and Variant Library Synthesis for VAC14

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604632    OMIM disorders: --

    6 diseases for VAC14:    About MalaCards
    communicating hydrocephalus    t-cell leukemia    hydrocephalus    leukemia
    hepatocellular carcinoma    neuronitis


    VAC14 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): VAC14
    Human Genome Epidemiology (HuGE) Navigator: VAC14 (1 document)

    Export disorders for VAC14 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for VAC14 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with VAC14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mammalian ortholog of Saccharomyces cerevisiae Vac14 that associates with and up-regulates PIKfyve phosphoinositide 5-kinase activity. (PubMed id 15542851)1, 2, 3, 9 Sbrissa D.... Shisheva A. (2004)
    2. 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. (PubMed id 17556371)1, 2, 9 Sbrissa D....Shisheva A. (2007)
    3. Binding of Vac14 to neuronal nitric oxide synthase: Characterisation of a new internal PDZ-recognition motif. (PubMed id 17161399)1, 2, 9 Lemaire J.F. and McPherson P.S. (2006)
    4. Isolation of a cDNA clone, TRX encoding a human T-cell lymphotrophic virus type-I Tax1 binding protein. (PubMed id 8611628)1, 2, 9 Mireskandari A....Brady J.N. (1996)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality. (PubMed id 18950639)1, 2 Sbrissa D....Shisheva A. (2008)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. (PubMed id 12719380)1, 3 Davy B.E. and Robinson M.L. (2003)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. The centrosomal protein Tax1 binding protein 2 is a no vel tumor suppressor in hepatocellular carcinoma regulated by cyclin-dependent k inase 2. (PubMed id 22610972)1 Lai W.L....Ching Y.P. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55697 HGNC: 25507 AceView: FLJ10305 Ensembl:ENSG00000103043 euGenes: HUgn55697
    ECgene: VAC14 Kegg: 55697 H-InvDB: VAC14

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for VAC14 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for VAC14 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for VAC14 gene:
    Search GeneIP for patents involving VAC14

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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