VPS53: Difference between revisions

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{{Underlinked|date=May 2014}}
{{Infobox_gene}}
{{Infobox_gene}}
'''Vacuolar protein sorting 53 homolog (S. cerevisiae)''' is a [[protein]] that in humans is encoded by the VPS53 [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Vacuolar protein sorting 53 homolog (S. cerevisiae) | url = https://www.ncbi.nlm.nih.gov/gene/55275 }}</ref>


'''Vacuolar protein sorting 53 homolog (S. cerevisiae)''' is a [[protein]] that in humans is encoded by the VPS53 [[gene]].
== Function ==
<ref name="entrez">
{{cite web
| title = Entrez Gene: Vacuolar protein sorting 53 homolog (S. cerevisiae)
| url = https://www.ncbi.nlm.nih.gov/gene/55275
| accessdate = 2014-04-30 <!-- T00:41:44.600770-08:00 -->
}}</ref>
 
==Function==


This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008].
This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008].


Mutations in VPS53 cause {{SWL|type=mutation_results_in|target=cerebello-cerebral atrophy type 2|label=cerebello-cerebral atrophy type 2}}.<ref>{{Cite journal
Mutations in VPS53 cause {{SWL|type=mutation_results_in|target=cerebello-cerebral atrophy type 2|label=cerebello-cerebral atrophy type 2}}.<ref>{{cite journal | vauthors = Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS | title = VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2) | journal = Journal of Medical Genetics | volume = 51 | issue = 5 | pages = 303–8 | date = May 2014 | pmid = 24577744 | doi = 10.1136/jmedgenet-2013-101823 }}</ref>
| pmid = 24577744
| year = 2014
| author1 = Feinstein
| first1 = M
| title = VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)
| journal = Journal of Medical Genetics
| volume = 51
| issue = 5
| pages = 303–8
| last2 = Flusser
| first2 = H
| last3 = Lerman-Sagie
| first3 = T
| last4 = Ben-Zeev
| first4 = B
| last5 = Lev
| first5 = D
| last6 = Agamy
| first6 = O
| last7 = Cohen
| first7 = I
| last8 = Kadir
| first8 = R
| last9 = Sivan
| first9 = S
| last10 = Leshinsky-Silver
| first10 = E
| last11 = Markus
| first11 = B
| last12 = Birk
| first12 = O. S.
| doi = 10.1136/jmedgenet-2013-101823
}}</ref>


== References ==
== References ==
{{reflist}}
{{reflist}}


== Further reading ==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
*{{Cite journal
* {{cite journal | vauthors = Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH | title = Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3 | journal = American Journal of Human Genetics | volume = 72 | issue = 4 | pages = 918–30 | date = April 2003 | pmid = 12621583 | pmc = 1180354 | doi = 10.1086/374320 }}
| pmid = 12621583
* {{cite journal | vauthors = Pérez-Victoria FJ, Schindler C, Magadán JG, Mardones GA, Delevoye C, Romao M, Raposo G, Bonifacino JS | title = Ang2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex | journal = Molecular Biology of the Cell | volume = 21 | issue = 19 | pages = 3386–95 | date = October 2010 | pmid = 20685960 | pmc = 2947474 | doi = 10.1091/mbc.E10-05-0392 }}
| year = 2003
* {{cite journal | vauthors = Zhu JD, Fei Q, Wang P, Lan F, Mao DQ, Zhang HY, Yao XB | title = Transcription of the putative tumor suppressor gene HCCS1 requires binding of ETS-2 to its consensus near the transcription start site | journal = Cell Research | volume = 16 | issue = 9 | pages = 780–96 | date = September 2006 | pmid = 16953216 | doi = 10.1038/sj.cr.7310092 }}
| author1 = Cardoso
* {{cite journal | vauthors = Pérez-Victoria FJ, Bonifacino JS | title = Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network | journal = Molecular and Cellular Biology | volume = 29 | issue = 19 | pages = 5251–63 | date = October 2009 | pmid = 19620288 | pmc = 2747979 | doi = 10.1128/MCB.00495-09 }}
| first1 = C
* {{cite journal | vauthors = Ko JK, Choi KH, Pan Z, Lin P, Weisleder N, Kim CW, Ma J | title = The tail-anchoring domain of Bfl1 and HCCS1 targets mitochondrial membrane permeability to induce apoptosis | journal = Journal of Cell Science | volume = 120 | issue = Pt 16 | pages = 2912–23 | date = August 2007 | pmid = 17666431 | doi = 10.1242/jcs.006197 }}
| title = Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3
* {{cite journal | vauthors = Liewen H, Meinhold-Heerlein I, Oliveira V, Schwarzenbacher R, Luo G, Wadle A, Jung M, Pfreundschuh M, Stenner-Liewen F | title = Characterization of the human GARP (Golgi associated retrograde protein) complex | journal = Experimental Cell Research | volume = 306 | issue = 1 | pages = 24–34 | date = May 2005 | pmid = 15878329 | doi = 10.1016/j.yexcr.2005.01.022 }}
| journal = The American Journal of Human Genetics
* {{cite journal | vauthors = Zhao X, He M, Wan D, Ye Y, He Y, Han L, Guo M, Huang Y, Qin W, Wang MW, Chong W, Chen J, Zhang L, Yang N, Xu B, Wu M, Zuo L, Gu J | title = The minimum LOH region defined on chromosome 17p13.3 in human hepatocellular carcinoma with gene content analysis | journal = Cancer Letters | volume = 190 | issue = 2 | pages = 221–32 | date = February 2003 | pmid = 12565177 | doi = 10.1016/s0304-3835(02)00622-5 }}
| volume = 72
* {{cite journal | vauthors = Pérez-Victoria FJ, Mardones GA, Bonifacino JS | title = Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes | journal = Molecular Biology of the Cell | volume = 19 | issue = 6 | pages = 2350–62 | date = June 2008 | pmid = 18367545 | pmc = 2397299 | doi = 10.1091/mbc.E07-11-1189 }}
| issue = 4
| pages = 918–30
| last2 = Leventer
| first2 = R. J.
| last3 = Ward
| first3 = H. L.
| last4 = Toyo-Oka
| first4 = K
| last5 = Chung
| first5 = J
| last6 = Gross
| first6 = A
| last7 = Martin
| first7 = C. L.
| last8 = Allanson
| first8 = J
| last9 = Pilz
| first9 = D. T.
| last10 = Olney
| first10 = A. H.
| last11 = Mutchinick
| first11 = O. M.
| last12 = Hirotsune
| first12 = S
| last13 = Wynshaw-Boris
| first13 = A
| last14 = Dobyns
| first14 = W. B.
| last15 = Ledbetter
| first15 = D. H.
| doi = 10.1086/374320
| pmc = 1180354
}}
*{{Cite journal
| pmid = 20685960
| year = 2010
| author1 = Pérez-Victoria
| first1 = F. J.
| title = Ang2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex
| journal = Molecular Biology of the Cell
| volume = 21
| issue = 19
| pages = 3386–95
| last2 = Schindler
| first2 = C
| last3 = Magadán
| first3 = J. G.
| last4 = Mardones
| first4 = G. A.
| last5 = Delevoye
| first5 = C
| last6 = Romao
| first6 = M
| last7 = Raposo
| first7 = G
| last8 = Bonifacino
| first8 = J. S.
| doi = 10.1091/mbc.E10-05-0392
| pmc = 2947474
}}
*{{Cite journal
| pmid = 16953216
| year = 2006
| author1 = Zhu
| first1 = J. D.
| title = Transcription of the putative tumor suppressor gene HCCS1 requires binding of ETS-2 to its consensus near the transcription start site
| journal = Cell Research
| volume = 16
| issue = 9
| pages = 780–96
| last2 = Fei
| first2 = Q
| last3 = Wang
| first3 = P
| last4 = Lan
| first4 = F
| last5 = Mao Da
| first5 = Q
| last6 = Zhang
| first6 = H. Y.
| last7 = Yao
| first7 = X. B.
| doi = 10.1038/sj.cr.7310092
}}
*{{Cite journal
| pmid = 19620288
| year = 2009
| author1 = Pérez-Victoria
| first1 = F. J.
| title = Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network
| journal = Molecular and Cellular Biology
| volume = 29
| issue = 19
| pages = 5251–63
| last2 = Bonifacino
| first2 = J. S.
| doi = 10.1128/MCB.00495-09
| pmc = 2747979
}}
*{{Cite journal
| pmid = 17666431
| year = 2007
| author1 = Ko
| first1 = J. K.
| title = The tail-anchoring domain of Bfl1 and HCCS1 targets mitochondrial membrane permeability to induce apoptosis
| journal = Journal of Cell Science
| volume = 120
| issue = Pt 16
| pages = 2912–23
| last2 = Choi
| first2 = K. H.
| last3 = Pan
| first3 = Z
| last4 = Lin
| first4 = P
| last5 = Weisleder
| first5 = N
| last6 = Kim
| first6 = C. W.
| last7 = Ma
| first7 = J
| doi = 10.1242/jcs.006197
}}
*{{Cite journal
| pmid = 15878329
| year = 2005
| author1 = Liewen
| first1 = H
| title = Characterization of the human GARP (Golgi associated retrograde protein) complex
| journal = Experimental Cell Research
| volume = 306
| issue = 1
| pages = 24–34
| last2 = Meinhold-Heerlein
| first2 = I
| last3 = Oliveira
| first3 = V
| last4 = Schwarzenbacher
| first4 = R
| last5 = Luo
| first5 = G
| last6 = Wadle
| first6 = A
| last7 = Jung
| first7 = M
| last8 = Pfreundschuh
| first8 = M
| last9 = Stenner-Liewen
| first9 = F
| doi = 10.1016/j.yexcr.2005.01.022
 
}}
*{{Cite journal
| pmid = 12565177
| year = 2003
| author1 = Zhao
| first1 = X
| title = The minimum LOH region defined on chromosome 17p13.3 in human hepatocellular carcinoma with gene content analysis
| journal = Cancer Letters
| volume = 190
| issue = 2
| pages = 221–32
| last2 = He
| first2 = M
| last3 = Wan
| first3 = D
| last4 = Ye
| first4 = Y
| last5 = He
| first5 = Y
| last6 = Han
| first6 = L
| last7 = Guo
| first7 = M
| last8 = Huang
| first8 = Y
| last9 = Qin
| first9 = W
| last10 = Wang
| first10 = M. W.
| last11 = Chong
| first11 = W
| last12 = Chen
| first12 = J
| last13 = Zhang
| first13 = L
| last14 = Yang
| first14 = N
| last15 = Xu
| first15 = B
| last16 = Wu
| first16 = M
| last17 = Zuo
| first17 = L
| last18 = Gu
| first18 = J
| doi=10.1016/s0304-3835(02)00622-5
}}
*{{Cite journal
| pmid = 18367545
| year = 2008
| author1 = Pérez-Victoria
| first1 = F. J.
| title = Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes
| journal = Molecular Biology of the Cell
| volume = 19
| issue = 6
| pages = 2350–62
| last2 = Mardones
| first2 = G. A.
| last3 = Bonifacino
| first3 = J. S.
| doi = 10.1091/mbc.E07-11-1189
| pmc = 2397299
}}
 
{{refend}}
{{refend}}


{{NLM content}}
{{NLM content}}


{{gene-17-stub}}
{{gene-17-stub}}

Latest revision as of 07:54, 27 January 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

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

Vacuolar protein sorting 53 homolog (S. cerevisiae) is a protein that in humans is encoded by the VPS53 gene.[1]

Function

This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008].

Mutations in VPS53 cause cerebello-cerebral atrophy type 2 .[2]

References

  1. ↑ "Entrez Gene: Vacuolar protein sorting 53 homolog (S. cerevisiae)".
  2. ↑ Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS (May 2014). "VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)". Journal of Medical Genetics. 51 (5): 303–8. doi:10.1136/jmedgenet-2013-101823. PMID 24577744.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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