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Aliases for VAPB Gene

Aliases for VAPB Gene

  • VAMP (Vesicle-Associated Membrane Protein)-Associated Protein B And C 2 3
  • ALS8 3 6
  • Vesicle-Associated Membrane Protein-Associated Protein B/C 3
  • VAMP-Associated 33 KDa Protein 3
  • VAMP-Associated Protein B/C 4
  • VAMP-B/VAMP-C 4
  • VAP-B/VAP-C 4
  • VAMP-B 3
  • VAP-B 3
  • VAPC 6

External Ids for VAPB Gene

Summaries for VAPB Gene

Entrez Gene Summary for VAPB Gene

  • The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]

GeneCards Summary for VAPB Gene

VAPB (VAMP (Vesicle-Associated Membrane Protein)-Associated Protein B And C) is a Protein Coding gene. Diseases associated with VAPB include amyotrophic lateral sclerosis 8 and adult-onset proximal spinal muscular atrophy, autosomal dominant. Among its related pathways are Sphingolipid metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is VAPA.

UniProtKB/Swiss-Prot for VAPB Gene

  • Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation.

Gene Wiki entry for VAPB Gene

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

Genomics for VAPB Gene

Genomic Location for VAPB Gene

Start:
58,389,119 bp from pter
End:
58,451,101 bp from pter
Size:
61,983 bases
Orientation:
Plus strand

Genomic View for VAPB Gene

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

RefSeq DNA sequence for VAPB Gene

Regulatory Elements for VAPB Gene

Proteins for VAPB Gene

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

    Protein Symbol:
    O95292-VAPB_HUMAN
    Recommended name:
    Vesicle-associated membrane protein-associated protein B/C
    Protein Accession:
    O95292
    Secondary Accessions:
    • A2A2F2
    • O95293
    • Q9P0H0

    Protein attributes for VAPB Gene

    Size:
    243 amino acids
    Molecular mass:
    27228 Da
    Quaternary structure:
    • Homodimer, and heterodimer with VAPA. Interacts with VAMP1 and VAMP2. Interacts with HCV NS5A and NS5B. Interacts (via MSP domain) with ZFYVE27. Interacts with RMDN3.

    Three dimensional structures from OCA and Proteopedia for VAPB Gene

    Alternative splice isoforms for VAPB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VAPB Gene

Proteomics data for VAPB Gene at MOPED

Post-translational modifications for VAPB Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys155

Other Protein References for VAPB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for VAPB Gene

Domains for VAPB Gene

Protein Domains for VAPB Gene

UniProtKB/Swiss-Prot:

VAPB_HUMAN
Domain:
  • Contains 1 MSP domain.:
    • O95292
Family:
  • Belongs to the VAMP-associated protein (VAP) (TC 9.B.17) family.:
    • O95292
genes like me logo Genes that share domains with VAPB: view

No data available for Gene Families for VAPB Gene

Function for VAPB Gene

Molecular function for VAPB Gene

UniProtKB/Swiss-Prot Function: Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation.

Gene Ontology (GO) - Molecular Function for VAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity --
GO:0005515 protein binding IPI 16227268
GO:0008017 microtubule binding IDA 18713837
GO:0019899 enzyme binding IPI 17540579
GO:0033149 FFAT motif binding IMP 18713837
genes like me logo Genes that share ontologies with VAPB: view
genes like me logo Genes that share phenotypes with VAPB: view

Animal Models for VAPB Gene

MGI Knock Outs for VAPB:

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

Localization for VAPB Gene

Subcellular locations from UniProtKB/Swiss-Prot for VAPB Gene

Endoplasmic reticulum membrane; Single-pass type IV membrane protein. Note=Present in mitochondria-associated membranes that are endoplasmic reticulum membrane regions closely apposed to the outer mitochondrial membrane. {ECO:0000269 PubMed:22131369}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VAPB Gene COMPARTMENTS Subcellular localization image for VAPB gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
cytosol 3
endosome 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for VAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IMP 18713837
GO:0005783 endoplasmic reticulum IDA 15372378
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IDA 16227268
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with VAPB: view

Pathways for VAPB Gene

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

Pathways by source for VAPB Gene

Gene Ontology (GO) - Biological Process for VAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process TAS --
GO:0006874 cellular calcium ion homeostasis IMP 22131369
GO:0006888 ER to Golgi vesicle-mediated transport IMP 18713837
GO:0006987 activation of signaling protein activity involved in unfolded protein response IDA 20940299
GO:0007029 endoplasmic reticulum organization IMP 18713837
genes like me logo Genes that share ontologies with VAPB: view

Transcripts for VAPB Gene

Unigene Clusters for VAPB Gene

VAMP (vesicle-associated membrane protein)-associated protein B and C:
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1: - - -
SP2: - - -
SP3:
SP4: - - - -
SP5: - - - - - - -
SP6:

Relevant External Links for VAPB Gene

GeneLoc Exon Structure for
VAPB
ECgene alternative splicing isoforms for
VAPB

Expression for VAPB Gene

mRNA expression in normal human tissues for VAPB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

SOURCE GeneReport for Unigene cluster for VAPB Gene Hs.182625

mRNA Expression by UniProt/SwissProt for VAPB Gene

O95292-VAPB_HUMAN
Tissue specificity: Ubiquitous. Isoform 1 predominates
genes like me logo Genes that share expressions with VAPB: view

Orthologs for VAPB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for VAPB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VAPB 36
  • 99.86 (n)
  • 100 (a)
VAPB 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia VAPB 36
  • 91.5 (n)
  • 95.88 (a)
VAPB 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VAPB 36
  • 92.59 (n)
  • 96.3 (a)
VAPB 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vapb 36
  • 87.52 (n)
  • 90.12 (a)
Vapb 16
Vapb 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VAPB 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VAPB 37
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vapb 36
  • 85.46 (n)
  • 88.48 (a)
chicken
(Gallus gallus)
Aves VAPB 36
  • 83.4 (n)
  • 87.24 (a)
VAPB 37
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VAPB 37
  • 90 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.29271 36
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76271 36
MGC76271 36
  • 74.34 (n)
  • 82.43 (a)
zebrafish
(Danio rerio)
Actinopterygii vapb 36
  • 71.49 (n)
  • 75.21 (a)
vapb 37
  • 75 (a)
OneToOne
wufa96d05 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000626 36
  • 50.35 (n)
  • 41.84 (a)
fruit fly
(Drosophila melanogaster)
Insecta fan 37
  • 23 (a)
ManyToMany
Vap-33-1 36
  • 47.13 (n)
  • 40.52 (a)
Vap-33-1 37
  • 34 (a)
ManyToMany
Vap-33-1 38
  • 56 (a)
worm
(Caenorhabditis elegans)
Secernentea vpr-1 36
  • 44.96 (n)
  • 36.13 (a)
vpr-1 37
  • 31 (a)
OneToMany
F33D11.11 38
  • 36 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCS2 37
  • 19 (a)
ManyToMany
SCS22 37
  • 26 (a)
ManyToMany
Species with no ortholog for VAPB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for VAPB Gene

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

Paralogs for VAPB Gene

Paralogs for VAPB Gene

Selected SIMAP similar genes for VAPB Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for VAPB Gene

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

Variants for VAPB Gene

Sequence variations from dbSNP and Humsavar for VAPB Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs7400 -- 58,445,500(-) ATAGT(C/G)AAACA utr-variant-3-prime, nc-transcript-variant
rs12512 -- 58,445,288(-) GACCT(A/G)GGCGC utr-variant-3-prime, nc-transcript-variant
rs714572 -- 58,448,724(-) ACAGT(C/T)TTAAT utr-variant-3-prime, nc-transcript-variant
rs720426 -- 58,409,292(+) GGTAT(A/G)GAACG intron-variant
rs763514 -- 58,448,755(-) TTCCA(A/G)CAGAA utr-variant-3-prime, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
nsv834019 CNV Loss 17160897
esv2722621 CNV Deletion 23290073
nsv3428 CNV Loss 18451855

Relevant External Links for VAPB Gene

HapMap Linkage Disequilibrium report
VAPB
Human Gene Mutation Database (HGMD)
VAPB

Disorders for VAPB Gene

(2) OMIM Diseases for VAPB Gene (605704)

UniProtKB/Swiss-Prot

VAPB_HUMAN
  • Amyotrophic lateral sclerosis 8 (ALS8) [MIM:608627]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:15372378, ECO:0000269 PubMed:20940299}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD) [MIM:182980]: A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign course. Most of the patients remain ambulatory 10 to 40 years after clinical onset. {ECO:0000269 PubMed:15372378}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for VAPB Gene

Disease -log(P) Hits PubMed IDs
amyotrophic lateral sclerosis 78.6 5

Relevant External Links for VAPB

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

Publications for VAPB Gene

  1. Sporadic ALS is not associated with VAPB gene mutations in Southern Italy. (PMID: 16729899) Conforti F.L. … Quattrone A. (J Negat Results Biomed 2006) 3 23 49
  2. Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8). (PMID: 16891305) Kanekura K. … Matsuoka M. (J. Biol. Chem. 2006) 3 4 23
  3. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. (PMID: 15372378) Nishimura A.L. … Zatz M. (Am. J. Hum. Genet. 2004) 3 4 23
  4. Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins. (PMID: 9920726) Nishimura Y. … Tanaka T. (Biochem. Biophys. Res. Commun. 1999) 2 3 4
  5. Human VAP-C negatively regulates hepatitis C virus propagation. (PMID: 19515777) Kukihara H. … Matsuura Y. (J. Virol. 2009) 3 23

Products for VAPB Gene

Sources for VAPB Gene

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