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    VAPA VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa [ Homo sapiens ]

    Gene ID: 9218, updated on 11-May-2012
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    Summary

    Official Symbol
    VAPAprovided by HGNC
    Official Full Name
    VAMP (vesicle-associated membrane protein)-associated protein A, 33kDaprovided by HGNC
    Primary source
    HGNC:12648
    See related
    Ensembl:ENSG00000101558; HPRD:09299; MIM:605703; Vega:OTTHUMG00000131603
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    VAP-A; VAP33; VAP-33; hVAP-33; MGC3745
    Summary
    The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein complex assembly and cell motility. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    18p11.22
    Sequence :
    Chromosome: 18; NC_000018.9 (9913955..9960018)
    See VAPA in Epigenomics, MapViewer

    Chromosome 18 - NC_000018.9Genomic Context describing neighboring genes Neighboring gene zinc finger protein 415 pseudogene Neighboring gene RAB31, member RAS oncogene family Neighboring gene thioredoxin domain containing 2 (spermatozoa) Neighboring gene adenomatosis polyposis coli down-regulated 1 Neighboring gene N-ethylmaleimide-sensitive factor attachment protein, gamma

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Viperin inhibits hepatitis C virus replication by interfering with binding of NS5A to host protein hVAP-33. Wang S, et al. J Gen Virol, 2012 Jan. PMID 21957124.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    5. Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome. Tsui DW, et al. PLoS One, 2010 Nov 30. PMID 21152411.

    See all (33) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Viperin inhibits hepatitis C virus replication by interfering with binding of NS5A to host protein VAP-33.
      Title: Viperin inhibits hepatitis C virus replication by interfering with binding of NS5A to host protein hVAP-33.
    2. Data show that the methylated VAPA-APCDD1 DNA in maternal plasma is predominantly derived from the fetus, and this novel fetal epigenetic marker in maternal plasma is useful for the noninvasive detection of fetal trisomy 18.
      Title: Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome.
    3. three conserved prolines in VAPA and Scs2p confers less vulnerability to mutations equivalent to the amyotrophic lateral sclerosis causing mutation as compared with VAPB, which has only two conserved prolines.
      Title: Human VAPA and the yeast VAP Scs2p with an altered proline distribution can phenocopy amyotrophic lateral sclerosis-associated VAPB(P56S).
    4. Electrostatic interaction between oxysterol-binding protein and VAMP-associated protein A revealed by NMR and mutagenesis studies.
      Title: Electrostatic interaction between oxysterol-binding protein and VAMP-associated protein A revealed by NMR and mutagenesis studies.
    5. GLTP and VAP-A were shown to interact.
      Title: The glycolipid transfer protein interacts with the vesicle-associated membrane protein-associated protein VAP-A.
    6. VAP-A is an important regulator both of the subcellular localization of protrudin and of its ability to stimulate neurite outgrowth.
      Title: Promotion of neurite extension by protrudin requires its interaction with vesicle-associated membrane protein-associated protein.
    7. Data show that overexpression of VAPA and VAPB causes retention of ER membrane proteins by impeding lateral diffusion and their incorporation into transport vesicles.
      Title: FFAT rescues VAPA-mediated inhibition of ER-to-Golgi transport and VAPB-mediated ER aggregation.
    8. Our results provide suggestive evidence of an association between SNPs in the 3'UTR of the VAPA gene and bipolar disorder.
      Title: Association between polymorphisms in the vesicle-associated membrane protein-associated protein A (VAPA) gene on chromosome 18p and bipolar disorder.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between polymorphisms in the vesicle-associated membrane protein-associated protein A (VAPA) gene on chromosome 18p and bipolar disorder.
    10. protein-protein interactions among the various HCV NS proteins and hVAP-33 are important for the formation of HCV replication complex
      Title: Interactions between viral nonstructural proteins and host protein hVAP-33 mediate the formation of hepatitis C virus RNA replication complex on lipid raft.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_919415.1 NP_751927.1 HCVgp1    BIND  PubMed NS5A interacts with hVAP-33. 
    NP_919415.1 NP_751927.1 HCVgp1    BIND  PubMed hVAP-33 interacts with NS5A. 
    NP_919415.1 NP_751928.1 HCVgp1    BIND  PubMed NS5B interacts with hVAP-33. 
    NP_919415.1 NP_751928.1 HCVgp1    BIND  PubMed hVAP-33 interacts with NS5B. 
    NP_919415.1 CAB46677.1     BIND  PubMed NS5A interacts with hVAP-A. 
    Q9P0L0 P46459 NSF    HPRD  PubMed  
    Q9P0L0 P22059 OSBP    HPRD  PubMed  
    Q9P0L0 P57059 SIK1    HPRD  PubMed  
    Q9P0L0 P23763 VAMP1    HPRD  PubMed  
    Q9P0L0 P63027 VAMP2    HPRD  PubMed  
    Q9P0L0 Q9P0L0 VAPA    HPRD  PubMed  
    BioGRID:114651 BioGRID:108276 EGFR    BioGRID  PubMed PCA 
    BioGRID:114651 BioGRID:120476 FAM82A2    BioGRID  PubMed Two-hybrid 
    BioGRID:114651 BioGRID:109850 INSIG1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114651 BioGRID:111048 OSBP    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:114651 BioGRID:125384 OSBPL9    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114651 BioGRID:207877 Rassf1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114651 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114651 BioGRID:116077 USP20    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:114651 BioGRID:112710 VAMP1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114651 BioGRID:112711 VAMP2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114651 BioGRID:114650 VAPB    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Diurnally regulated genes with circadian orthologs, organism-specific biosystem (from WikiPathways)
      Diurnally regulated genes with circadian orthologs, organism-specific biosystemHuman genes regulated in the diurnal comparison with orthologues that display circadian regulation in mouse heart and liver (Panda 2002, Storch 2002), and SCN (Panda 2002). The 608 significantly regu...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Sphingolipid de novo biosynthesis, organism-specific biosystem (from REACTOME)
      Sphingolipid de novo biosynthesis, organism-specific biosystemThe main steps involved in de novo sphingolipid synthesis are annotated here (Merrill 2002, Gault et al. 2010).
    • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
      Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    signal transducer activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cell death IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    cellular membrane fusion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    positive regulation of I-kappaB kinase/NF-kappaB cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    protein localization in endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    sphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    sphingolipid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with tight junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    vesicle-associated membrane protein-associated protein A
    Names
    vesicle-associated membrane protein-associated protein A
    VAMP-A
    VAMP-associated protein A
    33 kDa VAMP-associated protein
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_003574.5 → NP_003565.4  vesicle-associated membrane protein-associated protein A isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC006238, AF154847, BG488667, BP209270
      Consensus CDS
      CCDS11847.2
      UniProtKB/Swiss-Prot
      Q9P0L0
      Related
      ENSP00000345656, OTTHUMP00000162362, ENST00000340541, OTTHUMT00000254489
      Conserved Domains (1) summary
      pfam00635
      Location:15 – 118
      Blast Score: 330
      Motile_Sperm; MSP (Major sperm protein) domain

    2. NM_194434.2 → NP_919415.2  vesicle-associated membrane protein-associated protein A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC006238, BC002992, BP209270
      Consensus CDS
      CCDS11848.2
      UniProtKB/Swiss-Prot
      Q9P0L0
      Related
      ENSP00000382880, OTTHUMP00000162363, ENST00000400000, OTTHUMT00000254490
      Conserved Domains (1) summary
      pfam00635
      Location:15 – 118
      Blast Score: 332
      Motile_Sperm; MSP (Major sperm protein) domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000018.9 Reference GRCh37.p5 Primary Assembly

      Range
      9913955..9960018
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000150.1 Alternate HuRef

      Range
      9893891..9921843
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC006238.1 (39083..44290) None
    genomic CH471113.2 EAX01590.1
      EAX01591.1
      EAX01592.1
    mRNA AF044670.1 AAD09742.1
    mRNA AF057358.1 AAC26508.1
    mRNA AF086627.1 AAD13576.1
    mRNA AF154847.1 AAF72105.1
    mRNA AK024299.1 None
    mRNA AK096868.1 None
    mRNA AK123434.1 None
    mRNA AK292948.1 BAF85637.1
    mRNA AK315577.1 BAG37951.1
    mRNA BC002992.1 AAH02992.2
    mRNA BC033947.2 None
    mRNA BC042860.1 None
    mRNA BG488667.1 None
    mRNA BG719406.1 None
    mRNA BP209270.1 None
    mRNA BT019618.1 AAV38424.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P0L0.3 GenPept UniProtKB/Swiss-Prot:Q9P0L0
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
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