VAPB_HUMAN » Vesicle-associated membrane protein-associated protein B/C

VAPB_HUMAN » Vesicle-associated membrane protein-associated protein B/C
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Topology in Endoplasmic reticulum membrane
Topologylumenal side
cytoplasmic side
VAPB_HUMAN » Vesicle-associated membrane protein-associated protein B/C » VAMP-B/VAMP-C; VAMP-associated protein B/C; VAP-B/VAP-C;
Hydrophobic Thickness 30.0 ± 2.2 Å
Tilt Angle 0 ± 0°
ΔGtransfer -38.8 kcal/mol
ΔGfold -15.6 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, Reactome
Topology In
TM Segments 219-241 (217-242)
Pathways none
PDB 2mdk (1-125), 3ikk (A/B=1-125)
OPM none
Complexes none
Interactions

ERBB2, Complex: VAPB:ERBB2, PubMed

ESR1, Complex: VAPB:ESR1, PubMed

OST48, Complex: VAPB:OST48

RMD2, Complex: RMD2:VAPB

SC22B, Complex: SC22B:VAPB, PubMed

STX1A, Complex: VAPB:STX1A, PubMed

STX1B, Complex: STX1B:VAPB, PubMed

STX2, Complex: VAPB:STX2, PubMed

STX4, Complex: VAPB:STX4, PubMed

STX5, Complex: VAPB:STX5, PubMed

UCRI, Complex: UCRI:VAPB

VAMP1, Complex: VAPB:VAMP1, PubMed

VAMP2, Complex: VAPB:VAMP2, PubMed

VAPA, Complex: VAPB:VAPA, PubMed

Domains

AA: 7-113, PDBID: 2MDK, Subunit A, Seq Identity:100%, MSP (Major sperm protein) domain

UniProt annotation for VAPB_HUMAN » Vesicle-associated membrane protein-associated protein B/C
FUNCTION: Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation.

SUBUNIT: 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.

TISSUE SPECIFICITY: Ubiquitous. Isoform 1 predominates.

DISEASE: Amyotrophic lateral sclerosis 8 (ALS8) OMIM: 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. mutations affecting the gene represented in this entry.

DISEASE: Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD) OMIM: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

UniProt features for VAPB_HUMAN » Vesicle-associated membrane protein-associated protein B/C
CHAIN 2 243 Vesicle-associated membrane protein- associated protein B/C.
DOMAIN 7 124 MSP.
COILED 159 196 Potential.
Amino Acid Sequence for VAPB_HUMAN » Vesicle-associated membrane protein-associated protein B/C
MAKVEQVLSL EPQHELKFRG PFTDVVTTNL KLGNPTDRNV CFKVKTTAPR RYCVRPNSGI IDAGASINVS VMLQPFDYDP NEKSKHKFMV QSMFAPTDTS DMEAVWKEAK PEDLMDSKLR CVFELPAEND KPHDVEINKI ISTTASKTET PIVSKSLSSS LDDTEVKKVM EECKRLQGEV QRLREENKQF KEEDGLRMRK TVQSNSPISA LAPTGKEEGL STRLLALVVL FFIVGVIIGK IAL