VPS53

VPS53
Identifikatori
Aliasi	VPS53
Vanjski ID-jevi	OMIM: 615850 MGI: 1915549 HomoloGene: 6264 GeneCards: VPS53
Lokacija gena (čovjek)
Hrom.	Hromosom 17 (čovjek)
Kraj	721,717 bp
Lokacija gena (miš)
Hrom.	Hromosom 11 (miš)
Kraj	76,070,473 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• perinuklearno područje citoplazme; • reciklirajući endosom; • EARP complex; • endozom; • Golđijev aparat; • endosome membrane; • GARP complex; • membrana; • trans-Golđijeva mreža; • trans-Golgi network membrane; • citosol;
Biološki proces	• protein transport; • endocytic recycling; • lysosomal transport; • retrograde transport, endosome to Golgi;
	Izvori:Amigo / QuickGO
Ortolozi
	55275
	68299
	ENSG00000283883; ENSG00000141252
	ENSMUSG00000017288
	Q5VIR6
	Q8CCB4
	NM_001128159; NM_018289; NM_001366253; NM_001366254
	NM_026664; NM_001364738
	NP_001121631; NP_060759; NP_001353182; NP_001353183
	NP_080940; NP_001351667
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Homolog 53 sortiranja vakuolskih proteina (S. cerevisiae) je protein koji je kod ljudi kodiran genom VPS53.^[5]

Dužina polipeptidnog lanca je 699 aminokiselina, a molekulska težina 79 653 Da.^[6].

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
MMEEEELEFV	EELEAVLQLT	PEVQLAIEQV	FPSQDPLDRA	DFNAVEYINT
LFPTEQSLAN	IDEVVNKIRL	KIRRLDDNIR	TVVRGQTNVG	QDGRQALEEA
QKAIQQLFGK	IKDIKDKAEK	SEQMVKEITR	DIKQLDHAKR	HLTTSITTLN
HLHMLAGGVD	SLEAMTRRRQ	YGEVANLLQG	VMNVLEHFHK	YMGIPQIRQL
SERVKAAQTE	LGQQILADFE	EAFPSQGTKR	PGGPSNVLRD	ACLVANILDP
RIKQEIIKKF	IKQHLSEYLV	LFQENQDVAW	LDKIDRRYAW	IKRQLVDYEE
KYGRMFPREW	CMAERIAVEF	CHVTRAELAK	IMRTRAKEIE	VKLLLFAIQR
TTNFEGFLAK	RFSGCTLTDG	TLKKLESPPP	STNPFLEDEP	TPEMEELATE
KGDLDQPKKP	KAPDNPFHGI	VSKCFEPHLY	VYIESQDKNL	GELIDRFVAD
FKAQGPPKPN	TDEGGAVLPS	CADLFVYYKK	CMVQCSQLST	GEPMIALTTI
FQKYLREYAW	KILSGNLPKT	TTSSGGLTIS	SLLKEKEGSE	VAKFTLEELC
LICNILSTAE	YCLATTQQLE	EKLKEKVDVS	LIERINLTGE	MDTFSTVISS
SIQLLVQDLD	AACDPALTAM	SKMQWQNVEH	VGDQSPYVTS	VILHIKQNVP
IIRDNLASTR	KYFTQFCVKF	ANSFIPKFIT	HLFKCKPISM	VGAEQVRWT

Funkcija

Ovaj gen kodira protein slične sekvence proteinu kvasca Vps53p. Vps53p je uključen u retrogradni promet vezikula u kasnom Golgijjevom aparatu. [prema RefSeq, juli 2008.].

Mutacije u VPS53 uzrokuju cerebelo-cerebralnu atrofiju tip 2.^[7]

Reference

^ ^a ^b ^c ENSG00000141252 GRCh38: Ensembl release 89: ENSG00000283883, ENSG00000141252 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000017288 - 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.
^ "Entrez Gene: Vacuolar protein sorting 53 homolog (S. cerevisiae)".
^ "UniProt, Q5VIR6". Pristupljeno June 15, 2021.
^ 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 (maj 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. S2CID 8752023.

Dopunska literatura

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 (april 2003). "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". American Journal of Human Genetics. 72 (4): 918–30. doi:10.1086/374320. PMC 1180354. PMID 12621583.
Pérez-Victoria FJ, Schindler C, Magadán JG, Mardones GA, Delevoye C, Romao M, Raposo G, Bonifacino JS (oktobar 2010). "Ang2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex". Molecular Biology of the Cell. 21 (19): 3386–95. doi:10.1091/mbc.E10-05-0392. PMC 2947474. PMID 20685960.
Zhu JD, Fei Q, Wang P, Lan F, Mao DQ, Zhang HY, Yao XB (septembar 2006). "Transcription of the putative tumor suppressor gene HCCS1 requires binding of ETS-2 to its consensus near the transcription start site". Cell Research. 16 (9): 780–96. doi:10.1038/sj.cr.7310092. PMID 16953216.
Pérez-Victoria FJ, Bonifacino JS (oktobar 2009). "Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network". Molecular and Cellular Biology. 29 (19): 5251–63. doi:10.1128/MCB.00495-09. PMC 2747979. PMID 19620288.
Ko JK, Choi KH, Pan Z, Lin P, Weisleder N, Kim CW, Ma J (august 2007). "The tail-anchoring domain of Bfl1 and HCCS1 targets mitochondrial membrane permeability to induce apoptosis" (PDF). Journal of Cell Science. 120 (Pt 16): 2912–23. doi:10.1242/jcs.006197. PMID 17666431. S2CID 14635274.
Liewen H, Meinhold-Heerlein I, Oliveira V, Schwarzenbacher R, Luo G, Wadle A, Jung M, Pfreundschuh M, Stenner-Liewen F (maj 2005). "Characterization of the human GARP (Golgi associated retrograde protein) complex". Experimental Cell Research. 306 (1): 24–34. doi:10.1016/j.yexcr.2005.01.022. PMID 15878329.
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 (februar 2003). "The minimum LOH region defined on chromosome 17p13.3 in human hepatocellular carcinoma with gene content analysis". Cancer Letters. 190 (2): 221–32. doi:10.1016/s0304-3835(02)00622-5. PMID 12565177.
Pérez-Victoria FJ, Mardones GA, Bonifacino JS (juni 2008). "Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes". Molecular Biology of the Cell. 19 (6): 2350–62. doi:10.1091/mbc.E07-11-1189. PMC 2397299. PMID 18367545.

[refGRCh38Ensembl-1] ENSG00000141252 GRCh38: Ensembl release 89: ENSG00000283883, ENSG00000141252 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000017288 - 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.

[entrez-5] "Entrez Gene: Vacuolar protein sorting 53 homolog (S. cerevisiae)".

[UniProt-6] "UniProt, Q5VIR6". Pristupljeno June 15, 2021.

[7] 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 (maj 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. S2CID 8752023.

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