VAPB: Difference between revisions

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{{Infobox_gene}}
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'''Vesicle-associated membrane protein-associated protein B/C''' is a [[protein]] that in humans is encoded by the ''VAPB'' [[gene]].<ref name="pmid9920726">{{cite journal | vauthors = Nishimura Y, Hayashi M, Inada H, Tanaka T | title = Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins | journal = Biochemical and Biophysical Research Communications | volume = 254 | issue = 1 | pages = 21–6 | date = Jan 1999 | pmid = 9920726 | pmc =  | doi = 10.1006/bbrc.1998.9876 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9217| accessdate = }}</ref>  The VAPB gene is found on the [[Chromosome 20 (human)|20th human chromosome]]. Together with [[VAPA]], it forms the [[VAP protein family]].
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = VAMP (vesicle-associated membrane protein)-associated protein B and C
| HGNCid = 12649
| Symbol = VAPB
| AltSymbols =; ALS8; VAMP-B; VAMP-C; VAP-B; VAP-C
| OMIM = 605704
| ECnumber = 
| Homologene = 36163
| MGIid = 1928744
| GeneAtlas_image1 = PBB_GE_VAPB_202550_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_VAPB_202549_at_tn.png
| Function = {{GNF_GO|id=GO:0005198 |text = structural molecule activity}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006461 |text = protein complex assembly}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 9217
    | Hs_Ensembl = ENSG00000124164
    | Hs_RefseqProtein = NP_004729
    | Hs_RefseqmRNA = NM_004738
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 20
    | Hs_GenLoc_start = 56397651
    | Hs_GenLoc_end = 56455365
    | Hs_Uniprot = O95292
    | Mm_EntrezGene = 56491
    | Mm_Ensembl = ENSMUSG00000054455
    | Mm_RefseqmRNA = NM_019806
    | Mm_RefseqProtein = NP_062780
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 173380510
    | Mm_GenLoc_end = 173427275
    | Mm_Uniprot = Q3TA54
  }}
}}
'''VAMP (vesicle-associated membrane protein)-associated protein B and C''', also known as '''VAPB''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9217| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9217| accessdate = }}</ref>
}}


==References==
Like [[VAPA]], VAPB binds to proteins that contain a [[FFAT motif]].<ref>{{cite journal | vauthors = Loewen CJ, Roy A, Levine TP | title = A conserved ER targeting motif in three families of lipid binding proteins and in Opi1p binds VAP | journal = The EMBO Journal | volume = 22 | issue = 9 | pages = 2025–35 | date = May 2003 | pmid = 12727870 | doi = 10.1093/emboj/cdg201 | pmc=156073}}</ref> Considerable interest in VAPB has arisen because mutations in this protein are associated with rare, familial forms of [[Motor Neurone Disease]] (also called [[Amyotrophic Lateral Sclerosis]] and [[Lou Gehrig's disease]]).<ref>{{cite journal | vauthors = 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 | title = A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis | journal = American Journal of Human Genetics | volume = 75 | issue = 5 | pages = 822–31 | date = Nov 2004 | pmid = 15372378 | doi = 10.1086/425287 | pmc=1182111}}</ref>
{{reflist|2}}
 
==Further reading==
== References ==
{{refbegin | 2}}
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{{PBB_Further_reading
{{Clear}}
| citations =  
 
*{{cite journal  | author=Nishimura Y, Hayashi M, Inada H, Tanaka T |title=Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins. |journal=Biochem. Biophys. Res. Commun. |volume=254 |issue= 1 |pages= 21-6 |year= 1999 |pmid= 9920726 |doi= 10.1006/bbrc.1998.9876 }}
== Further reading ==
*{{cite journal  | author=Bastepe M, Pincus JE, Jüppner H |title=Two frequent tetra-nucleotide repeat polymorphisms between VAPB and STX16 on chromosome 20q13. |journal=Mol. Cell. Probes |volume=13 |issue= 6 |pages= 449-51 |year= 2000 |pmid= 10657150 |doi= 10.1006/mcpr.1999.0271 }}
{{refbegin|33em}}
*{{cite journal  | author=Paumet F, Le Mao J, Martin S, ''et al.'' |title=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=J. Immunol. |volume=164 |issue= 11 |pages= 5850-7 |year= 2000 |pmid= 10820264 |doi= }}
* {{cite journal | vauthors = Bastepe M, Pincus JE, Jüppner H | title = Two frequent tetra-nucleotide repeat polymorphisms between VAPB and STX16 on chromosome 20q13 | journal = Molecular and Cellular Probes | volume = 13 | issue = 6 | pages = 449–51 | date = Dec 1999 | pmid = 10657150 | doi = 10.1006/mcpr.1999.0271 }}
*{{cite journal | author=Hu RM, Han ZG, Song HD, ''et al.'' |title=Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 17 |pages= 9543-8 |year= 2000 |pmid= 10931946 |doi= 10.1073/pnas.160270997 }}
* {{cite journal | vauthors = Paumet F, Le Mao J, Martin S, Galli T, David B, Blank U, Roa M | title = 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 = Journal of Immunology | volume = 164 | issue = 11 | pages = 5850–7 | date = Jun 2000 | pmid = 10820264 | doi = 10.4049/jimmunol.164.11.5850 }}
*{{cite journal | author=Deloukas P, Matthews LH, Ashurst J, ''et al.'' |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865-71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
* {{cite journal | vauthors = 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 | title = Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 97 | issue = 17 | pages = 9543–8 | date = Aug 2000 | pmid = 10931946 | pmc = 16901 | doi = 10.1073/pnas.160270997 }}
*{{cite journal | author=Polgár J, Chung SH, Reed GL |title=Vesicle-associated membrane protein 3 (VAMP-3) and VAMP-8 are present in human platelets and are required for granule secretion. |journal=Blood |volume=100 |issue= 3 |pages= 1081-3 |year= 2002 |pmid= 12130530 |doi= }}
* {{cite journal | vauthors = Polgár J, Chung SH, Reed GL | title = Vesicle-associated membrane protein 3 (VAMP-3) and VAMP-8 are present in human platelets and are required for granule secretion | journal = Blood | volume = 100 | issue = 3 | pages = 1081–3 | date = Aug 2002 | pmid = 12130530 | doi = 10.1182/blood.V100.3.1081 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J | title = Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides | journal = Nature Biotechnology | volume = 21 | issue = 5 | pages = 566–9 | date = May 2003 | pmid = 12665801 | doi = 10.1038/nbt810 }}
*{{cite journal | author=Gevaert K, Goethals M, Martens L, ''et al.'' |title=Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. |journal=Nat. Biotechnol. |volume=21 |issue= 5 |pages= 566-9 |year= 2004 |pmid= 12665801 |doi= 10.1038/nbt810 }}
* {{cite journal | vauthors = 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 | title = The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment | journal = Genome Research | volume = 13 | issue = 10 | pages = 2265–70 | date = Oct 2003 | pmid = 12975309 | pmc = 403697 | doi = 10.1101/gr.1293003 }}
*{{cite journal  | author=Clark HF, Gurney AL, Abaya E, ''et al.'' |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265-70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 }}
* {{cite journal | vauthors = Nishimura AL, Mitne-Neto M, Silva HC, Oliveira JR, Vainzof M, Zatz M | title = A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13 | journal = Journal of Medical Genetics | volume = 41 | issue = 4 | pages = 315–20 | date = Apr 2004 | pmid = 15060112 | pmc = 1735732 | doi = 10.1136/jmg.2003.013029 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
* {{cite journal | vauthors = 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 | title = A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis | journal = American Journal of Human Genetics | volume = 75 | issue = 5 | pages = 822–31 | date = Nov 2004 | pmid = 15372378 | pmc = 1182111 | doi = 10.1086/425287 }}
*{{cite journal | author=Nishimura AL, Mitne-Neto M, Silva HC, ''et al.'' |title=A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13. |journal=J. Med. Genet. |volume=41 |issue= 4 |pages= 315-20 |year= 2004 |pmid= 15060112 |doi= }}
* {{cite journal | vauthors = Amarilio R, Ramachandran S, Sabanay H, Lev S | title = Differential regulation of endoplasmic reticulum structure through VAP-Nir protein interaction | journal = The Journal of Biological Chemistry | volume = 280 | issue = 7 | pages = 5934–44 | date = Feb 2005 | pmid = 15545272 | doi = 10.1074/jbc.M409566200 }}
*{{cite journal | author=Nishimura AL, Mitne-Neto M, Silva HC, ''et al.'' |title=A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. |journal=Am. J. Hum. Genet. |volume=75 |issue= 5 |pages= 822-31 |year= 2005 |pmid= 15372378 |doi= 10.1086/425287 }}
* {{cite journal | vauthors = 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 | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = Oct 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
* {{cite journal | vauthors = Hamamoto I, Nishimura Y, Okamoto T, Aizaki H, Liu M, Mori Y, Abe T, Suzuki T, Lai MM, Miyamura T, Moriishi K, Matsuura Y | title = Human VAP-B is involved in hepatitis C virus replication through interaction with NS5A and NS5B | journal = Journal of Virology | volume = 79 | issue = 21 | pages = 13473–82 | date = Nov 2005 | pmid = 16227268 | pmc = 1262604 | doi = 10.1128/JVI.79.21.13473-13482.2005 }}
*{{cite journal | author=Amarilio R, Ramachandran S, Sabanay H, Lev S |title=Differential regulation of endoplasmic reticulum structure through VAP-Nir protein interaction. |journal=J. Biol. Chem. |volume=280 |issue= 7 |pages= 5934-44 |year= 2005 |pmid= 15545272 |doi= 10.1074/jbc.M409566200 }}
* {{cite journal | vauthors = Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R | title = Phosphoproteome analysis of the human mitotic spindle | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 103 | issue = 14 | pages = 5391–6 | date = Apr 2006 | pmid = 16565220 | pmc = 1459365 | doi = 10.1073/pnas.0507066103 }}
*{{cite journal | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
* {{cite journal | vauthors = Perry RJ, Ridgway ND | title = Oxysterol-binding protein and vesicle-associated membrane protein-associated protein are required for sterol-dependent activation of the ceramide transport protein | journal = Molecular Biology of the Cell | volume = 17 | issue = 6 | pages = 2604–16 | date = Jun 2006 | pmid = 16571669 | pmc = 1474796 | doi = 10.1091/mbc.E06-01-0060 }}
*{{cite journal | author=Hamamoto I, Nishimura Y, Okamoto T, ''et al.'' |title=Human VAP-B is involved in hepatitis C virus replication through interaction with NS5A and NS5B. |journal=J. Virol. |volume=79 |issue= 21 |pages= 13473-82 |year= 2005 |pmid= 16227268 |doi= 10.1128/JVI.79.21.13473-13482.2005 }}
* {{cite journal | vauthors = 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 | title = Sporadic ALS is not associated with VAPB gene mutations in Southern Italy | journal = Journal of Negative Results in Biomedicine | volume = 5 | issue = | pages = 7 | year = 2006 | pmid = 16729899 | pmc = 1481594 | doi = 10.1186/1477-5751-5-7 }}
*{{cite journal | author=Nousiainen M, Silljé HH, Sauer G, ''et al.'' |title=Phosphoproteome analysis of the human mitotic spindle. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 14 |pages= 5391-6 |year= 2006 |pmid= 16565220 |doi= 10.1073/pnas.0507066103 }}
* {{cite journal | vauthors = Kanekura K, Nishimoto I, Aiso S, Matsuoka M | title = Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8) | journal = The Journal of Biological Chemistry | volume = 281 | issue = 40 | pages = 30223–33 | date = Oct 2006 | pmid = 16891305 | doi = 10.1074/jbc.M605049200 }}
*{{cite journal | author=Perry RJ, Ridgway ND |title=Oxysterol-binding protein and vesicle-associated membrane protein-associated protein are required for sterol-dependent activation of the ceramide transport protein. |journal=Mol. Biol. Cell |volume=17 |issue= 6 |pages= 2604-16 |year= 2006 |pmid= 16571669 |doi= 10.1091/mbc.E06-01-0060 }}
*{{cite journal  | author=Conforti FL, Sprovieri T, Mazzei R, ''et al.'' |title=Sporadic ALS is not associated with VAPB gene mutations in Southern Italy. |journal=Journal of negative results in biomedicine |volume=5 |issue=  |pages= 7 |year= 2006 |pmid= 16729899 |doi= 10.1186/1477-5751-5-7 }}
*{{cite journal  | author=Kanekura K, Nishimoto I, Aiso S, Matsuoka M |title=Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8). |journal=J. Biol. Chem. |volume=281 |issue= 40 |pages= 30223-33 |year= 2006 |pmid= 16891305 |doi= 10.1074/jbc.M605049200 }}
}}
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Latest revision as of 15:28, 17 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Wikidata
View/Edit Human

Vesicle-associated membrane protein-associated protein B/C is a protein that in humans is encoded by the VAPB gene.[1][2] The VAPB gene is found on the 20th human chromosome. Together with VAPA, it forms the VAP protein family.

Function

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.[2]

Like VAPA, VAPB binds to proteins that contain a FFAT motif.[3] Considerable interest in VAPB has arisen because mutations in this protein are associated with rare, familial forms of Motor Neurone Disease (also called Amyotrophic Lateral Sclerosis and Lou Gehrig's disease).[4]

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 "Entrez Gene: VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C".
  3. ↑ Loewen CJ, Roy A, Levine TP (May 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.
  4. ↑ 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.

Further reading


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