• Gene id: 9217

Gene Summary

• Gene Symbol: VAPB   Gene   UCSC   Ensembl
• Aliases: ALS8, VAMP-B, VAP-B
• Gene name: VAMP associated protein B and C
• Alternate names: vesicle-associated membrane protein-associated protein B/C, VAMP (vesicle-associated membrane protein)-associated protein B and C, VAMP-associated 33 kDa protein,
• Gene location: 20q13.32 (58389210: 58451100)     Exons: 7     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 605704

Protein Summary

• Protein general information: O95292  
  • Name: Vesicle associated membrane protein associated protein B/C (VAMP B/VAMP C) (VAMP associated protein B/C) (VAP B/VAP C)
  • Length: 243  
  • Mass: 27228
  • Tissue specificity: Ubiquitous. Isoform 1 predominates.
• Sequence:

  MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNPTDRNVCFKVKTTAPRRYCVRPNSGIIDAGASINVSVMLQP
  FDYDPNEKSKHKFMVQSMFAPTDTSDMEAVWKEAKPEDLMDSKLRCVFELPAENDKPHDVEINKIISTTASKTET
  PIVSKSLSSSLDDTEVKKVMEECKRLQGEVQRLREENKQFKEEDGLRMRKTVQSNSPISALAPTGKEEGLSTRLL
  ALVVLFFIVGVIIGKIAL

• Structural information:
  • Protein Domains: (7..12-)
    (/note="MSP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00132"-)
  • Interpro: IPR013783  IPR000535  IPR008962  IPR016763  IPR030226  
  • Prosite: PS50202
  • PDB: 2MDK 3IKK
  • PDBsum: 2MDK 3IKK
  • DIP: 39816
  • STRING: ENSP00000417175
• Other Databases: GeneCards:  VAPB  Malacards:  VAPB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090158	endoplasmic reticulum membrane organization	IBA	biological process
GO:0061817	endoplasmic reticulum-plasma membrane tethering	IBA	biological process
GO:0033149	FFAT motif binding	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0036498	IRE1-mediated unfolded protein response	IDA	biological process
GO:0033149	FFAT motif binding	IPI	molecular function
GO:0033149	FFAT motif binding	IPI	molecular function
GO:0006874	cellular calcium ion homeostasis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0030968	endoplasmic reticulum unfolded protein response	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006986	response to unfolded protein	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0070971	endoplasmic reticulum exit site	IDA	NOT|cellular component
GO:0008017	microtubule binding	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0048487	beta-tubulin binding	IDA	molecular function
GO:0019048	modulation by virus of host process	IDA	biological process
GO:0033149	FFAT motif binding	IMP	molecular function
GO:0045070	positive regulation of viral genome replication	IMP	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0030968	endoplasmic reticulum unfolded protein response	IMP	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	biological process
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090114	COPII-coated vesicle budding	IMP	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0007029	endoplasmic reticulum organization	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04979	Cholesterol metabolism

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis	KEGG:H00058
Amyotrophic lateral sclerosis	KEGG:H00058
Spinal muscular atrophy	KEGG:H00455
Spinal muscular atrophy	PMID:15372378
Amyotrophic lateral sclerosis	PMID:15372378
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq