Vapb vesicle-associated membrane protein, associated protein B and C [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Vapbprovided by MGI
Official Full Name: vesicle-associated membrane protein, associated protein B and Cprovided by MGI
Primary source: MGI:MGI:1928744
See related: Ensembl:ENSMUSG00000054455 AllianceGenome:MGI:1928744
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: VAP-B; VAMP-B; VAP33b; D2Abb2e; Vamp33b
Summary: Predicted to enable several functions, including FFAT motif binding activity; protein dimerization activity; and tubulin binding activity. Predicted to be involved in several processes, including IRE1-mediated unfolded protein response; endoplasmic reticulum organization; and modulation by host of viral genome replication. Predicted to act upstream of or within response to unfolded protein. Located in membrane. Is expressed in dorsal root ganglion. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8; autosomal dominant adult-onset proximal spinal muscular atrophy; and spinal muscular atrophy. Orthologous to human VAPB (VAMP associated protein B and C). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in cerebellum adult (RPKM 12.3), bladder adult (RPKM 11.2) and 28 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 2 H4; 2 97.37 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (173579378..173626132)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (173737571..173784336)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CALCOCO1 acts with VAMP-associated proteins to mediate ER-phagy.
Title: CALCOCO1 acts with VAMP-associated proteins to mediate ER-phagy.
Proteomics-Based Approach Identifies Altered ER Domain Properties by ALS-Linked VAPB Mutation.
Title: Proteomics-Based Approach Identifies Altered ER Domain Properties by ALS-Linked VAPB Mutation.
There was colocalization of Kv2.1 and Kv2.2 with endogenous VAPB at ER-PM junctions in mouse brain neurons. Expression of Kv2.1 recruits VAPB to ER-PM junctions.The domains of VAPs and Kv2.1 necessary and sufficient for their association at ER-PM junctions were identified.
Title: Identification of VAPA and VAPB as Kv2 Channel-Interacting Proteins Defining Endoplasmic Reticulum-Plasma Membrane Junctions in Mammalian Brain Neurons.
Peroxisomal (PO) long range movements were largely diminished in response to human ACBD5 overexpression in primary mouse hippocampal neurons. PO localization significantly changed in ACBD5-transfected neurons, PO numbers in neurites increased, while PO density in the soma was decreased. Alterations in PO motility and distribution in the hippocampal neurons were independent of the interaction between ACBD5 and mouse Vapb.
Title: Intracellular redistribution of neuronal peroxisomes in response to ACBD5 expression.
ignificant alterations of the vesicle-associated membrane protein-associated protein B (VAPB) and its downstream pathways such as mitochondrial calcium uptake and autophagy were detected in dominant GARS mutations. The role of VAPB has been supported by similar results in the GarsC210R mice. Our data suggest that altered mitochondria-associated endoplasmic reticulum (ER) membranes (MAM) may be important disease mechanisms
Title: Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.
To identify pathological defects in animals expressing the P56S mutant VAPB protein at physiological levels in the appropriate tissues, we have generated Vapb knock-in mice
Title: Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response.
The disruption of the IRE1-XBP1 pathway is a cause for the reduced myotube formation in P56S-VAPB-mutation expressing cells.
Title: ALS-Linked P56S-VAPB Mutation Impairs the Formation of Multinuclear Myotube in C2C12 Cells.
Vapb knock-out mice exhibit abnormal muscular triacylglycerol levels and FoxO target gene transcriptional responses to fasting and refeeding
Title: VAPB/ALS8 MSP ligands regulate striated muscle energy metabolism critical for adult survival in caenorhabditis elegans.
Mice knocked-out for Vapb showed mild motor deficits after 18 months of age.
Title: Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.
VapB positively regulates RANKL-mediated osteoclastogenesis via PLCgamma2-Ca(2+)-NFAT signaling
Title: VapB as a regulator of osteoclastogenesis via modulation of PLCγ2-Ca(2+)-NFAT signaling.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (2)
Targeted (3) 1 citation

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH125260 (e-PCR)
- UniSTS:162082

RH135972 (e-PCR)
- UniSTS:209968

AW742633 (e-PCR)
- UniSTS:207452

AI840687 (e-PCR)
- UniSTS:178786

R75548 (e-PCR)
- UniSTS:125551

AI848259 (e-PCR)
- UniSTS:165234

NoName (e-PCR)
- UniSTS:234622

D2Abb2e (e-PCR), detects polymorphism
- UniSTS:142288

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables FFAT motif binding	IBA Inferred from Biological aspect of Ancestor more info
enables FFAT motif binding	ISO Inferred from Sequence Orthology more info
enables beta-tubulin binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in COPII-coated vesicle budding	ISO Inferred from Sequence Orthology more info
involved_in IRE1-mediated unfolded protein response	ISO Inferred from Sequence Orthology more info
involved_in cholesterol transport	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum membrane organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum organization	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum unfolded protein response	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum-plasma membrane tethering	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in modulation by host of viral RNA genome replication	ISO Inferred from Sequence Orthology more info
involved_in negative regulation by host of viral genome replication	ISO Inferred from Sequence Orthology more info
involved_in negative regulation by virus of viral protein levels in host cell	ISO Inferred from Sequence Orthology more info
involved_in positive regulation by host of viral genome replication	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of viral genome replication	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to unfolded protein	IEA Inferred from Electronic Annotation more info
involved_in suppression of viral release by host	ISO Inferred from Sequence Orthology more info
involved_in viral release from host cell	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: vesicle-associated membrane protein-associated protein B

Names: VAMP-associated protein 33b; VAMP-associated protein B

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.