VAPB
Vesicle-associated membrane protein-associated protein B/C
Also known as: ALS8, VAP-B, VAP-C, VAPB_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O95292
- Gene
- VAPB
- Ensembl
- ENSG00000124164
- Chromosome
- 20
- Canonical length
- 243 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Endoplasmic reticulum
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
243 residues, UniProt reviewed canonical sequence.
>O95292|VAPB
1 MAKVEQVLSL EPQHELKFRG PFTDVVTTNL KLGNPTDRNV CFKVKTTAPR RYCVRPNSGI
61 IDAGASINVS VMLQPFDYDP NEKSKHKFMV QSMFAPTDTS DMEAVWKEAK PEDLMDSKLR
121 CVFELPAEND KPHDVEINKI ISTTASKTET PIVSKSLSSS LDDTEVKKVM EECKRLQGEV
181 QRLREENKQF KEEDGLRMRK TVQSNSPISA LAPTGKEEGL STRLLALVVL FFIVGVIIGK
241 IALLocalizationUniProt · AlphaFold · HPA
Whether an antibody against VAPB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 44 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 44 nTPM
- tongue: 37 nTPM
- adrenal gland: 36 nTPM
- liver: 34 nTPM
- spinal cord: 33 nTPM
- cerebral cortex: 28 nTPM
Single-cell type
- platelets: 209 nCPM
- corticotrophs: 113 nCPM
- somatotrophs: 107 nCPM
- lactotrophs: 89 nCPM
- renal collecting duct intercalated cells: 86 nCPM
- myonuclei: 82 nCPM
Immune cell
- naive CD8 T-cell: 4.8 nTPM
- memory CD4 T-cell: 4.6 nTPM
- MAIT T-cell: 4.5 nTPM
- gdT-cell: 3.9 nTPM
- neutrophil: 3.7 nTPM
- NK-cell: 3.7 nTPM
Brain region
- thalamus: 60 nTPM
- spinal cord: 58 nTPM
- pons: 56 nTPM
- midbrain: 53 nTPM
- medulla oblongata: 52 nTPM
- hypothalamus: 52 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about VAPB.
Disease | AllUniProt
Conditions VAPB is implicated in, by any mechanism.
- Amyotrophic lateral sclerosis 8 (ALS8) MIM:608627
- Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD) MIM:182980
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 414 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Amyotrophic lateral sclerosis type 8
- Adult-onset proximal spinal muscular atrophy, autosomal dominant
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.56
- gnomAD pLI
- 0.58
- gnomAD missense Z
- 1.25
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 20% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cholesterol transport
- COPII-coated vesicle budding
- endoplasmic reticulum membrane organization
- endoplasmic reticulum organization
- endoplasmic reticulum to Golgi vesicle-mediated transport
- endoplasmic reticulum unfolded protein response
- endoplasmic reticulum-plasma membrane tethering
- host-mediated activation of viral genome replication
- host-mediated perturbation of viral RNA genome replication
- host-mediated suppression of viral genome replication
- intracellular calcium ion homeostasis
- IRE1-mediated unfolded protein response
- negative regulation by virus of viral protein levels in host cell
- positive regulation of viral genome replication
- suppression of viral release by host
- viral release from host cell
Molecular functions
- beta-tubulin binding
- cadherin binding
- enzyme binding
- FFAT motif binding
- microtubule binding
- protein heterodimerization activity
- protein homodimerization activity
- protein-membrane adaptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of VAPB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads VAPB as an antibody target. Whether an autoantibody or antibody against VAPB could matter depends on whether native VAPB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
VAPB is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label VAPB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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