VAPB

VAPB
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2MDK, 3IKK
Identifikatori
Aliasi	VAPB
Vanjski ID-jevi	OMIM: 605704 MGI: 1928744 HomoloGene: 36163 GeneCards: VAPB
Lokacija gena (čovjek)
Hrom.	Hromosom 20 (čovjek)
Kraj	58,451,101 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	173,626,132 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• protein homodimerization activity; • microtubule binding; • GO:0001948, GO:0016582 vezivanje za proteine; • beta-tubulin binding; • protein heterodimerization activity; • vezivanje enzima; • cadherin binding; • FFAT motif binding;
Ćelijska komponenta	• integral component of membrane; • Golđijev aparat; • endoplasmic reticulum membrane; • membrana; • Endoplazmatski retikulum; • endoplasmic reticulum exit site; • Golđijeva membrana; • citoplazma;
Biološki proces	• COPII-coated vesicle budding; • cellular calcium ion homeostasis; • sphingolipid biosynthetic process; • endoplasmic reticulum organization; • positive regulation by host of viral genome replication; • endoplasmic reticulum unfolded protein response; • endoplasmic reticulum to Golgi vesicle-mediated transport; • response to unfolded protein; • suppression of viral release by host; • negative regulation by host of viral genome replication; • positive regulation of viral genome replication; • negative regulation by virus of viral protein levels in host cell; • GO:0022415 viral process; • modulation by host of viral RNA genome replication; • IRE1-mediated unfolded protein response;
	Izvori:Amigo / QuickGO
Ortolozi
	9217
	56491
	ENSG00000124164
	ENSMUSG00000054455
	O95292
	Q9QY76; Q8BH80
	NM_001195677; NM_004738
	NM_019806
	NP_001182606; NP_004729
	NP_062780
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

VAPB je protein koji je kod ljudi kodiran genom VAPB.^[5]^[6] Zajedno s VAPA, on čini Vap porodicu proteina.

Funkcija

Protein koji kodira ovaj gen je membranski protein tipa IV, koji se nalazi u plazmamembrani i unutarćelijskih vezikula. Kodirani protein nalazi se kao homodimer i kao heterodimer sa VAPA. Ovaj protein također može komunicirati s VAMP1 i VAMP2 i može biti uključen u promet vezikulq.^[6]

Poput VAPA, VAPB veže se za proteine koji sadrže motiv FFAT.^[7] Znatan interes za VAPB pojavio se jer su mutacije ovog proteina povezane sa rijetkim, porodičnim oblicima bolesti motornog neurona (zvanih i amiotrofna lateralna skleroza i Lou Gehrigova bolest).^[8]

Aminokiselinska sekvenca

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

10	20	30	40	50
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

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000124164 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000054455 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Nishimura Y, Hayashi M, Inada H, Tanaka T (Jan 1999). "Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins". Biochemical and Biophysical Research Communications. 254 (1): 21–6. doi:10.1006/bbrc.1998.9876. PMID 9920726.
^ ^a ^b "Entrez Gene: VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C".
^ Loewen CJ, Roy A, Levine TP (maj 2003). "A conserved ER targeting motif in three families of lipid binding proteins and in Opi1p binds VAP". The EMBO Journal. 22 (9): 2025–35. doi:10.1093/emboj/cdg201. PMC 156073. PMID 12727870.
^ Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M (Nov 2004). "A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis". American Journal of Human Genetics. 75 (5): 822–31. doi:10.1086/425287. PMC 1182111. PMID 15372378.

Dopunska literatura

Bastepe M, Pincus JE, Jüppner H (Dec 1999). "Two frequent tetra-nucleotide repeat polymorphisms between VAPB and STX16 on chromosome 20q13". Molecular and Cellular Probes. 13 (6): 449–51. doi:10.1006/mcpr.1999.0271. PMID 10657150.
Paumet F, Le Mao J, Martin S, Galli T, David B, Blank U, Roa M (Jun 2000). "Soluble NSF attachment protein receptors (SNAREs) in RBL-2H3 mast cells: functional role of syntaxin 4 in exocytosis and identification of a vesicle-associated membrane protein 8-containing secretory compartment". Journal of Immunology. 164 (11): 5850–7. doi:10.4049/jimmunol.164.11.5850. PMID 10820264.
Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL (Aug 2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning". Proceedings of the National Academy of Sciences of the United States of America. 97 (17): 9543–8. doi:10.1073/pnas.160270997. PMC 16901. PMID 10931946.
Polgár J, Chung SH, Reed GL (Aug 2002). "Vesicle-associated membrane protein 3 (VAMP-3) and VAMP-8 are present in human platelets and are required for granule secretion". Blood. 100 (3): 1081–3. doi:10.1182/blood.V100.3.1081. PMID 12130530.
Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J (maj 2003). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nature Biotechnology. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A (Oct 2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Research. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
Nishimura AL, Mitne-Neto M, Silva HC, Oliveira JR, Vainzof M, Zatz M (Apr 2004). "A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13". Journal of Medical Genetics. 41 (4): 315–20. doi:10.1136/jmg.2003.013029. PMC 1735732. PMID 15060112.
Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M (Nov 2004). "A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis". American Journal of Human Genetics. 75 (5): 822–31. doi:10.1086/425287. PMC 1182111. PMID 15372378.
Amarilio R, Ramachandran S, Sabanay H, Lev S (Feb 2005). "Differential regulation of endoplasmic reticulum structure through VAP-Nir protein interaction". The Journal of Biological Chemistry. 280 (7): 5934–44. doi:10.1074/jbc.M409566200. PMID 15545272.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Hamamoto I, Nishimura Y, Okamoto T, Aizaki H, Liu M, Mori Y, Abe T, Suzuki T, Lai MM, Miyamura T, Moriishi K, Matsuura Y (Nov 2005). "Human VAP-B is involved in hepatitis C virus replication through interaction with NS5A and NS5B". Journal of Virology. 79 (21): 13473–82. doi:10.1128/JVI.79.21.13473-13482.2005. PMC 1262604. PMID 16227268.
Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R (Apr 2006). "Phosphoproteome analysis of the human mitotic spindle". Proceedings of the National Academy of Sciences of the United States of America. 103 (14): 5391–6. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
Perry RJ, Ridgway ND (Jun 2006). "Oxysterol-binding protein and vesicle-associated membrane protein-associated protein are required for sterol-dependent activation of the ceramide transport protein". Molecular Biology of the Cell. 17 (6): 2604–16. doi:10.1091/mbc.E06-01-0060. PMC 1474796. PMID 16571669.
Conforti FL, Sprovieri T, Mazzei R, Ungaro C, Tessitore A, Tedeschi G, Patitucci A, Magariello A, Gabriele A, Labella V, Simone IL, Majorana G, Monsurrò MR, Valentino P, Muglia M, Quattrone A (2006). "Sporadic ALS is not associated with VAPB gene mutations in Southern Italy". Journal of Negative Results in Biomedicine. 5: 7. doi:10.1186/1477-5751-5-7. PMC 1481594. PMID 16729899.
Kanekura K, Nishimoto I, Aiso S, Matsuoka M (Oct 2006). "Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8)". The Journal of Biological Chemistry. 281 (40): 30223–33. doi:10.1074/jbc.M605049200. PMID 16891305.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000124164 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000054455 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9920726-5] Nishimura Y, Hayashi M, Inada H, Tanaka T (Jan 1999). "Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins". Biochemical and Biophysical Research Communications. 254 (1): 21–6. doi:10.1006/bbrc.1998.9876. PMID 9920726.

[entrez-6] "Entrez Gene: VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C".

[7] Loewen CJ, Roy A, Levine TP (maj 2003). "A conserved ER targeting motif in three families of lipid binding proteins and in Opi1p binds VAP". The EMBO Journal. 22 (9): 2025–35. doi:10.1093/emboj/cdg201. PMC 156073. PMID 12727870.

[8] Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M (Nov 2004). "A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis". American Journal of Human Genetics. 75 (5): 822–31. doi:10.1086/425287. PMC 1182111. PMID 15372378.

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