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VPS4A Gene

protein-coding   GIFtS: 59
GCID: GC16P069345

Vacuolar Protein Sorting 4 Homolog A (S. Cerevisiae)

(Previous names: vacuolar protein sorting 4A (yeast homolog), vacuolar protein...)
  See related diseases
at  

(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
Vacuolar Protein Sorting 4 Homolog A (S. Cerevisiae)1 2     SKD1A2
VPS42 3 5     SKD22
VPS4-12 3     Vacuolar Protein Sorting Factor 4A2
hVPS42 3     Vacuolar Protein Sorting-Associated Protein 4A2
Vacuolar Protein Sorting 4A (Yeast Homolog)1     Vacuolar Sorting Protein 42
Vacuolar Protein Sorting 4A (Yeast)1     EC 3.6.4.63
SKD12     Protein SKD23
SKD1-homolog2     

External Ids:    HGNC: 134881   Entrez Gene: 271832   Ensembl: ENSG000001326127   OMIM: 6099825   UniProtKB: Q9UN373   

Export aliases for VPS4A gene to outside databases

Previous GC identifers: GC16P060030 GC16P069723 GC16P069080 GC16P069121 GC16P067902 GC16P055223 GC16P069335


(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 VPS4A Gene:
The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular
activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been
identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4
and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an
yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal
compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene
encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18.
(provided by RefSeq, Jul 2008)

GeneCards Summary for VPS4A Gene:
VPS4A (vacuolar protein sorting 4 homolog A (S. cerevisiae)) is a protein-coding gene. Diseases associated with VPS4A include hepatitis e, and north american indian childhood cirrhosis. GO annotations related to this gene include ATPase activity, coupled and protein C-terminus binding. An important paralog of this gene is VPS4B.

UniProtKB/Swiss-Prot: VPS4A_HUMAN, Q9UN37
Function: Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes
membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane
fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain
intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the
endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated
growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to
function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and
enveloped virus budding (HIV-1 and other lentiviruses). Involved in cytokinesis

Gene Wiki entry for VPS4A 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  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the VPS4A gene promoter:
         c-Fos   AP-1   Pax-5   Pbx1a   NRSF form 1   NRSF form 2   HNF-4alpha1   GATA-1   AREB6   HSF2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVPS4A promoter sequence
   Search Chromatin IP Primers for VPS4A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VPS4A


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

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q23.1

VPS4A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VPS4A gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P069345:  view genomic region     (about GC identifiers)

Start:
69,345,259 bp from pter      End:
69,358,949 bp from pter
Size:
13,691 bases      Orientation:
plus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VPS4A_HUMAN, Q9UN37 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 4A  
Size: 437 amino acids; 48898 Da
Subunit: Proposed to be monomeric or homodimeric in nucleotide-free form and to oligomerize upon binding to ATP to
form two stacked hexameric or heptameric rings with a central pore through which ESCRT-III substrates are
translocated in an ATP-dependent manner (By similarity). Interacts with CHMP1A, CHMP1B, CHMP2A, CHMP2B, CHMP3,
CHMP4A, CHMP4B, CHMP4C and CHMP6. Interacts with VPS4B; the interaction suggests a heteromeric assembly with
VPS4B. Interacts with SPAST. Interacts with IST1
Sequence caution: Sequence=AAL75948.1; Type=Frameshift; Positions=123, 133, 157, 163;
3 PDB 3D structures from and Proteopedia for VPS4A:
1YXR (3D)        2JQ9 (3D)        2K3W (3D)    
Secondary accessions: B2RCB7 Q8TF07 Q9UI03 Q9Y582

Explore the universe of human proteins at neXtProt for VPS4A: NX_Q9UN37

Explore proteomics data for VPS4A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys140, Lys148, Lys156, Lys210
  • Modification sites at PhosphoSitePlus

  • See VPS4A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_037377.1  
    ENSEMBL proteins: 
     ENSP00000254950  
    Reactome Protein details: Q9UN37

    VPS4A Human Recombinant Protein Products:

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    Cloud-Clone Corp. ELISAs for VPS4A
    Cloud-Clone Corp. CLIAs for VPS4A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AATP: ATPases / AAA-type

    Selected InterPro protein domains (see all 6):
     IPR003959 ATPase_AAA_core
     IPR015415 Vps4_C
     IPR003960 ATPase_AAA_CS
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry Q9UN37

    ProtoNet protein and cluster: Q9UN37

    2 Blocks protein domains:
    IPB003960 AAA-protein subdomain
    IPB007330 MIT


    UniProtKB/Swiss-Prot: VPS4A_HUMAN, Q9UN37
    Domain: The MIT domain serves as an adapter for ESCRT-III proteins. It forms an asymmetric three-helix bundle that
    binds amphipathic MIM (MIT interacting motif) helices along the groove between MIT helices 2 and 3 present in a
    subset of ESCRT-III proteins thus establishing the canonical MIM-MIT interaction. In an extended conformation
    along the groove between helices 1 and 3, also binds to a type-2 MIT interacting motif (MIM2)
    Similarity: Belongs to the AAA ATPase family
    Similarity: Contains 1 MIT domain


    VPS4A 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: VPS4A_HUMAN, Q9UN37
    Function: Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes
    membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane
    fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain
    intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the
    endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated
    growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to
    function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and
    enveloped virus budding (HIV-1 and other lentiviruses). Involved in cytokinesis
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Number (IUBMB): EC 3.6.4.61

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding IPI11559748
    GO:0005524ATP binding IEA--
    GO:0008022protein C-terminus binding IPI17928862
    GO:0009378four-way junction helicase activity ----
         
    VPS4A for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for VPS4A:
     Decreased number of cells in m  Increased circadian period len  Increased gamma-H2AX phosphory  Upregulation of Wnt/beta-caten 

         1 MGI phenotypic allele for Vps4a (no phenotypes)

    VPS4A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VPS4A
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VPS4A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VPS4A

    miRNA
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    miRTarBase miRNAs that target VPS4A:
    hsa-mir-615-3p (MIRT039864), hsa-mir-455-3p (MIRT037863), hsa-mir-7-5p (MIRT025928), hsa-mir-16-5p (MIRT032063), hsa-mir-103a-3p (MIRT027230), hsa-mir-324-3p (MIRT042970)

    Block miRNA regulation of human, mouse, rat VPS4A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VPS4A (see all 20):
    hsa-miR-15a hsa-miR-2909 hsa-miR-1224-3p hsa-miR-1260b hsa-miR-340 hsa-miR-103a hsa-miR-483-3p hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidVPS4A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for VPS4A
    Predesigned siRNA for gene silencing in human, mouse, rat VPS4A

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: VPS4A (NM_013245)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VPS4A

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS4A


    (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
    VPS4A_HUMAN, Q9UN37: Prevacuolar compartment membrane; Peripheral membrane protein. Late endosome membrane;
    Peripheral membrane protein (Probable). Note=Membrane-associated in the prevacuolar endosomal compartment.
    Localizes to the midbody of dividing cells. Localized in two distinct rings on either side of the Fleming body
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    cytosol4
    plasma membrane2
    vacuole2
    cytoskeleton1
    extracellular1
    lysosome1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000815colocalizes with ESCRT III complex IDA18606141
    GO:0005737cytoplasm IDA11563910
    GO:0005829cytosol TAS--
    GO:0030496midbody IDA17853893
    GO:0031902late endosome membrane IEA--

    VPS4A 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 VPS4A About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91
    2Budding and maturation of HIV virion
    Budding and maturation of HIV virion0.64
    Endosomal Sorting Complex Required For Transport (ESCRT)0.64
    3Clathrin derived vesicle budding
    Membrane Trafficking0.32
    4Endocytosis
    Endocytosis
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for VPS4A
        CXCR4-mediated signaling events

    2 Reactome Pathways for VPS4A
        Budding and maturation of HIV virion
    Endosomal Sorting Complex Required For Transport (ESCRT)


    1 Kegg Pathway  (Kegg details for VPS4A):
        Endocytosis


    VPS4A for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including VPS4A: 
              HIV Host Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for VPS4A

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

    Selected Interacting proteins for VPS4A (Q9UN372, 3 ENSP000002549504) via UniProtKB, MINT, STRING, and/or I2D (see all 125)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDCD6IPQ8WUM42, 3, ENSP000003073874MINT-6173868 I2D: score=1 STRING: ENSP00000307387
    TUBA1AQ71U362, 3, ENSP000003010714MINT-6173858 I2D: score=1 STRING: ENSP00000301071
    BABAM1Q9NWV83, ENSP000003524084I2D: score=2 STRING: ENSP00000352408
    CHMP1AQ9HD423, ENSP000002534754I2D: score=2 STRING: ENSP00000253475
    CHMP2AO436333, ENSP000003104404I2D: score=2 STRING: ENSP00000310440
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000910cytokinesis IDA17853893
    GO:0006200ATP catabolic process NAS16174732
    GO:0006281DNA repair ----
    GO:0006310DNA recombination ----
    GO:0015031protein transport IEA--

    VPS4A 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 VPS4A

    1 Novoseek inferred chemical compound relationship for VPS4A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 19.3 5 16193069 (1), 10637304 (1), 17408385 (1)



    VPS4A for compounds           About GeneDecksing



    (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,
    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 VPS4A gene: 
    NM_013245.2  

    Unigene Cluster for VPS4A:

    Vacuolar protein sorting 4 homolog A (S. cerevisiae)
    Hs.128420  [show with all ESTs]
    Unigene Representative Sequence: AK092372
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254950(uc002eww.3) ENST00000562754 ENST00000564399 ENST00000566354

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    Selected qRT-PCR Assays for microRNAs that regulate VPS4A (see all 20):
    hsa-miR-15a hsa-miR-2909 hsa-miR-1224-3p hsa-miR-1260b hsa-miR-340 hsa-miR-103a hsa-miR-483-3p hsa-miR-424
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    GenScript: all cDNA clones in your preferred vector: VPS4A (NM_013245)
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      QuantiTect SYBR Green Assays in human, mouse, rat VPS4A
      QuantiFast Probe-based Assays in human, mouse, rat VPS4A

    Additional mRNA sequence: 

    AF112215.1 AF132747.1 AF155740.1 AF159063.1 AF255952.1 AK000200.1 AK025850.1 AK092372.1 
    AK315026.1 AL133634.1 BC013021.2 BC035121.1 BC047932.1 

    17 DOTS entries:

    DT.100654733  DT.447740  DT.100791140  DT.101984310  DT.91838215  DT.97839394  DT.120681088  DT.100791136 
    DT.100769230  DT.100791139  DT.100791143  DT.100892940  DT.120681031  DT.120681079  DT.95171111  DT.100791128 
    DT.97839393 

    Selected AceView cDNA sequences (see all 648):

    BM700179 AL582891 BF062645 F26818 BE675711 BQ883794 BU557227 AI492564 
    BM704904 AA515681 AL602980 AA732555 CD370211 AI383671 AI694536 CB218455 
    AA418261 AI432600 AF255952 NM_013245 BU507064 AI083530 BM549972 BI767739 

    GeneLoc Exon Structure


    (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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    VPS4A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAACAGCCA
    VPS4A Expression
    About this image


    VPS4A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Thyroid (Endocrine System)
     
     Adipose (Muscoskeletal System)
     
     Esophagus (Gastrointestinal Tract)
     
     Kidney (Urinary System)
    VPS4A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VPS4A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.128420

    UniProtKB/Swiss-Prot: VPS4A_HUMAN, Q9UN37
    Tissue specificity: Ubiquitously expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including VPS4A: 
              HIV Host Response in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat VPS4A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS4A

    (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 VPS4A gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vps4a1 , 5 vacuolar protein sorting 4a (yeast)1, 5 89.09(n)1
    99.08(a)1
      8 (53.53 cM)5
    1167331  NM_126165.11  NP_569053.11 
     1070312225 
    chicken
    (Gallus gallus)
    Aves VPS4A1 vacuolar protein sorting 4 homolog A (S. cerevisiae) 83.57(n)
    91.4(a)
      425637  XM_423372.4  XP_423372.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    92(a)
    1 → many
    GL343643.1(21145-32610)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia vps4a1 vacuolar protein sorting 4 homolog A 77.78(n)
    92.41(a)
      100158600  XM_004915358.1  XP_004915415.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vps4a1 vacuolar protein sorting 4a (yeast) 80.23(n)
    90.07(a)
      767670  NM_001076609.1  NP_001070077.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH026783
    Vps41
    intracellular protein transport
    adenosinetriphosphatase3
    Vacuolar protein sorting 41
    72(a)
    (best of 3)3
    71.32(n)1
    76.74(a)1
      327771  NM_133030.31  NP_573258.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y34D9A.103   -- 57(a)
    (best of 3)
      I(1065980-1066871)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS46
    AAA-ATPase involved in multivesicular body (MVB) p...
    59(a)
    1 → many
    XVI(886524-887837) YPR173C
    soybean
    (Glycine max)
    eudicotyledons 467322542   -- 73.42(n)  
    barley
    (Hordeum vulgare)
    Liliopsida Hv.62352 Transcribed sequence with moderate similarity to protein more 74.19(n)    CA011697.1 


    ENSEMBL Gene Tree for VPS4A (if available)
    TreeFam Gene Tree for VPS4A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VPS4A gene
    VPS4B2  ENSG000002609142  KATNAL12  KATNAL22  KATNA12  
    7 SIMAP similar genes for VPS4A using alignment to 2 protein entries:     VPS4A_HUMAN (see all proteins):
    DKFZp434E0418    VPS4B    KATNAL2    FIGNL1    KATNAL1    KATNA1
    FIGN

    VPS4A for paralogs           About GeneDecksing



    (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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    Selected SNPs for VPS4A (see all 446)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1433007441,2
    C--55237652(+) TTAGCC/TGGGCG 1 -- ds50010--------
    rs1832021331,2
    --69343465(+) GGCTGG/TGTCAC 1 -- us2k10--------
    rs1467671821,2
    --69343485(+) GCAGAG/TATGCC 1 -- us2k10--------
    rs735629001,2
    C,F--69343630(+) TATTTA/GGAGAT 1 -- us2k12Minor allele frequency- G:0.10WA 120
    rs1403833641,2
    --69343652(+) CTTGTC/TGCCCA 1 -- us2k10--------
    rs1480320791,2
    C--69343700(+) CCTCCA/GCCTCC 1 -- us2k10--------
    rs1417104521,2
    --69343777(+) GCCGGC/TGAATA 1 -- us2k10--------
    rs1870895901,2
    --69343803(+) AGAGAC/TAGGGT 1 -- us2k10--------
    rs99390101,2
    C--69343891(+) attatA/Tggcgt 1 -- us2k10--------
    rs285538871,2
    C--69343904(+) GCCACC/TGCGCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for VPS4A (69345259 - 69358949 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for VPS4A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv523736CNV Loss19592680
    nsv827715CNV Loss20364138
    nsv906820CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VPS4A
    DNA2.0 Custom Variant and Variant Library Synthesis for VPS4A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609982    OMIM disorders: --

    10 diseases for VPS4A:    
    About MalaCards
    hepatitis e    north american indian childhood cirrhosis    conjunctivitis    hiv-1
    influenza    hepatitis c virus    hepatitis    hepatitis b
    hepatitis c    cystic fibrosis


    VPS4A for disorders           About GeneDecksing

    Genetic Association Database (GAD): VPS4A

    Export disorders for VPS4A 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 VPS4A gene, integrated from 10 sources (see all 88):
    (articles sorted by number of sources associating them with VPS4A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian cells express two VPS4 proteins both of which are involved in intracellular protein trafficking. (PubMed id 11563910)1, 2, 3, 9 Scheuring S.... Koehrer K. (J. Mol. Biol. 2001)
    2. Comparative sequence and expression analyses of four mammalian VPS4 genes. (PubMed id 12594041)1, 2, 9 Beyer A....Koehrer K. (Gene 2003)
    3. ATPase-defective mammalian VPS4 localizes to aberrant endosomes and impairs cholesterol trafficking. (PubMed id 10637304)2, 3, 9 Bishop N. and Woodman P. (Mol. Biol. Cell 2000)
    4. Biochemical analyses of human IST1 and its function in cytokinesis. (PubMed id 19129479)1, 2, 9 Bajorek M....Sundquist W.I. (Mol. Biol. Cell 2009)
    5. Two distinct modes of ESCRT-III recognition are required for VPS4 functions in lysosomal protein targeting and HIV-1 budding. (PubMed id 18606141)1, 2, 9 Kieffer C.... Sundquist W.I. (Dev. Cell 2008)
    6. ESCRT-III recognition by VPS4 ATPases. (PubMed id 17928862)1, 2, 9 Stuchell-Brereton M.D.... Sundquist W.I. (Nature 2007)
    7. Human ESCRT and ALIX proteins interact with proteins of the midbody and function in cytokinesis. (PubMed id 17853893)1, 2, 9 Morita E.... Sundquist W.I. (EMBO J. 2007)
    8. Structure and ESCRT-III protein interactions of the MIT domain of human VPS4A. (PubMed id 16174732)1, 2, 9 Scott A....Sundquist W.I. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    9. Mechanism of inhibition of retrovirus release from cells by interferon-induced gene ISG15. (PubMed id 21543490)1, 2 Kuang Z....Leis J. (J. Virol. 2011)
    10. ATPase-deficient hVPS4 impairs formation of internal endosomal vesicles and stabilizes bilayered clathrin coats on endosomal vacuoles. (PubMed id 15075231)1, 2 Sachse M.... Klumperman J. (J. Cell Sci. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 27183 HGNC: 13488 AceView: SNTB2andVPS4A Ensembl:ENSG00000132612 euGenes: HUgn27183
    ECgene: VPS4A Kegg: 27183 H-InvDB: VPS4A

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for VPS4A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for VPS4A gene:
    Search GeneIP for patents involving VPS4A

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



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