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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000016.10 NT_010498.16 NC_018927.2

Regulatory elements:

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 plasmid: VAC14 promoter sequence

Search Chromatin IP Primers for VAC14

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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

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:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See VAC14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_060522.3

ENSEMBL proteins:

ENSP00000463485 ENSP00000457809 ENSP00000261776 ENSP00000454650 ENSP00000439284

ENSP00000455731

Reactome Protein details: Q08AM6

VAC14 Human Recombinant Protein Products:

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	Novus Biologicals VAC14 Proteins Novus Biologicals VAC14 Lysates
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	LSBio Antibodies in human, mouse, rat for VAC14

VAC14 Assay Products:

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	Cloud-Clone Corp. ELISAs for VAC14 Cloud-Clone Corp. CLIAs for VAC14

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro protein domains:

IPR011989 ARM-like

IPR021841 VAC14_Fig4p-bd

IPR026825 Vac14

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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	NAS	8611628
GO:0005488	binding	--	--
GO:0005515	protein binding	IPI	17161399
GO:0019209	kinase activator activity	--	--

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/body	integument
mortality/aging	nervous system	pigmentation

VAC14 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VAC14

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for VAC14

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VAC14

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miRNA Products:		miRTarBase miRNAs that target VAC14: hsa-mir-200b-3p (MIRT024128), hsa-mir-429 (MIRT016639), hsa-mir-30c-2-3p (MIRT038701), hsa-mir-200c-3p (MIRT021072), hsa-mir-200a-3p (MIRT020349), hsa-mir-423-5p (MIRT038068), hsa-mir-589-5p (MIRT037789), hsa-mir-141-3p (MIRT021651)

		Block miRNA regulation of human, mouse, rat VAC14 using miScript Target Protectors
		1 qRT-PCR Assays for microRNA that regulate VAC14:
		hsa-miR-583
		SwitchGear 3'UTR luciferase reporter plasmid: VAC14 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for VAC14
		Predesigned siRNA for gene silencing in human, mouse, rat VAC14

Gene Editing
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DNA2.0 Custom Protein Engineering Service for VAC14

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		GenScript: all cDNA clones in your preferred vector: VAC14 (NM_018052)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VAC14

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

VAC14_HUMAN, Q08AM6: Endosome membrane. Microsome membrane (By similarity). Note=Mainly associated with membranes

of the late endocytic pathway

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
endosome	5
golgi apparatus	4
cytosol	3
endoplasmic reticulum	3
lysosome	2
vacuole	2
nucleus	1

About this image

Gene Ontology (GO): 5 cellular component terms: About this table

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	--

VAC14 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for VAC14 About

See pathways by source

SuperPath

Contained pathways About

PI Metabolism

	PI Metabolism	0.65			Synthesis of PIPs at the Golgi membrane	0.00
	Synthesis of PIPs at the late endosome membrane	0.00			Synthesis of PIPs at the early endosome membrane	0.00

Metabolism

Metabolism

0.38

Metabolism of lipids and lipoproteins

0.37

Glycerophospholipid biosynthesis

Phospholipid metabolism

0.64

Viral carcinogenesis

Viral carcinogenesis

HTLV-I infection

HTLV-I infection

Pathways by source See SuperPaths
Show all pathways

3 Reactome Pathways for VAC14

	Synthesis of PIPs at the late endosome membrane
	Synthesis of PIPs at the early endosome membrane
	Synthesis of PIPs at the Golgi membrane

2 Kegg Pathways (Kegg details for VAC14):

	HTLV-I infection
	Viral carcinogenesis

VAC14 for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for VAC14
Interactions:

GeneGlobe Interaction Network for VAC14

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for VAC14 (Q08AM6^{1, 2, 3} ENSP00000261776⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 145)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NOS1	P29475¹^,²^,³, ENSP00000320758⁴	EBI-2107455,EBI-7164065 MINT-3999924 MINT-3999953 MINT-3999982 MINT-3999902 MINT-3999876 I2D: score=3 STRING: ENSP00000320758
CALM1	P62158³	I2D: score=1
CALM2	P62158³	I2D: score=1
CALM3	P62158³	I2D: score=1
FIG4	Q92562²^,³, ENSP00000230124⁴	MINT-7277770 I2D: score=6 STRING: ENSP00000230124

About this table

Gene Ontology (GO): Selected biological process terms (see all 6): About this table

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:0019048	modulation by virus of host morphology or physiology	--	--

VAC14 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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

miRNA Products:		Block miRNA regulation of human, mouse, rat VAC14 using miScript Target Protectors
		1 qRT-PCR Assays for microRNA that regulate VAC14:
		hsa-miR-583
		SwitchGear 3'UTR luciferase reporter plasmid: VAC14 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for VAC14
		Predesigned siRNA for gene silencing in human, mouse, rat VAC14

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		GenScript: all cDNA clones in your preferred vector: VAC14 (NM_018052)
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		QuantiTect SYBR Green Assays in human, mouse, rat VAC14
		QuantiFast Probe-based Assays in human, mouse, rat VAC14

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

Selected AceView cDNA sequences (see all 258):

AK025479 BQ014101 BM472596 BU846407 AA813461 BM904117 CA307115 BQ010258

BQ677264 AW964160 CB105697 AI364652 BQ647708 AK056433 CA441225 BQ880812

CA425376 BM712224 CF272267 BM706439 CA389947 BC000536 BQ682774 BC007214

GeneLoc Exon Structure

Selected 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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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VAC14 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CCTGTGTGTG

About this image

VAC14 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

VAC14 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.445061

UniProtKB/Swiss-Prot: VAC14_HUMAN, Q08AM6

Tissue specificity: Ubiquitously expressed

Custom PCR Arrays for VAC14

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		QuantiFast Probe-based Assays in human, mouse, rat VAC14

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VAC14

(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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for VAC14 gene from Selected species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Vac14^{1 , 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	Vac14 homolog (S. cerevisiae)	85(a)	1 ↔ 1	GL343539.1(165078-227497)
tropical clawed frog (Xenopus tropicalis)	Amphibia	vac14¹	Vac14 homolog	73.28(n) 81.97(a)		100216224 NM_001142192.1 NP_001135664.1
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	55.84(n) 51.66(a)		41543 NM_141951.1 NP_650208.1
worm (Caenorhabditis elegans)	Secernentea	K04G2.6¹	K04G2.6	47.71(n) 41.79(a)		172589 NM_059814.3 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 VAC14¹	47.26(n)¹ 40.85(a)¹		12(893628-896270)⁴ 851102^{1, 4} NP_013490.3¹ NP_013490.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G01690¹	AT2G01690	52.07(n) 47.72(a)		814698 NM_201666.1 NP_973395.1
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)
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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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11864186^1,2	C,F,A,H	--	70722103(+)	`GGCCTG/CTGGGC`	1	--	int¹		7		NS NA CSA WA	330
rs147952023^1,2	C	--	70722134(+)	`CTCTT-/CCGTCA TGGCGGGCCCCAG`	1	--	int¹		0	--	--	--	--
rs149079547^1,2		--	70722291(+)	`GTTTAC/TGAGTG`	1	--	int¹		0	--	--	--	--
rs143149429^1,2		--	70722362(+)	`ACAGGA/GTCTGG`	1	--	int¹		0	--	--	--	--
rs151219993^1,2		--	70722541(+)	`AATGCC/TGGTCT`	1	--	int¹		0	--	--	--	--
rs28483299^1,2	C,F	--	70722542(+)	`ATGCCG/AGTCTC`	1	--	int¹		1		WA	118
rs4985416^1,2	C,F,A,H	--	70722940(+)	`CCTTCA/CAGTTT`	1	--	int¹		27		NS EA NA CSA WA	2770
rs188909011^1,2		--	70722979(+)	`GAAGGC/GGGGTG`	1	--	int¹		0	--	--	--	--
rs73575039^1,2	C,F	--	70722988(+)	`TGCAGG/ACACTG`	1	--	int¹		3		WA	122
rs181715860^1,2		--	70723050(+)	`CCTAGC/TGGTGT`	1	--	int¹		0	--	--	--	--

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

Structural Variations
Database of Genomic Variants (DGV) Selected variations for VAC14 (see all 11): About this table

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

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(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.)
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OMIM gene information: 604632 OMIM disorders: --

7 diseases for VAC14: About MalaCards

communicating hydrocephalus t-cell leukemia hydrocephalus leukemia

hepatocellular carcinoma malaria 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)
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PubMed articles for VAC14 gene, integrated from 10 sources (see all 28):
(articles sorted by number of sources associating them with VAC14)

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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. (Mol. Cell. Biol. 2004)
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. (J. Biol. Chem. 2007)
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. (FEBS Lett. 2006)
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. (Biochim. Biophys. Acta 1996)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (Mol. Med. 2010)
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. (J. Mol. Biol. 2008)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
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. (Hum. Mol. Genet. 2003)
Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)¹ Foerster S....Ritter C.A. (Proteomics 2013)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (Cell 2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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)
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Entrez Gene: 55697	HGNC: 25507	AceView: FLJ10305	Ensembl:ENSG00000103043	euGenes: HUgn55697
ECgene: VAC14	Kegg: 55697	H-InvDB: VAC14

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for VAC14	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for VAC14	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for VAC14 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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