VPS53
| Vacuolar protein sorting 53 homolog (S. cerevisiae) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | VPS53 ; HCCS1; PCH2E; hVps53L; pp13624 | ||||||||||||
| External IDs | OMIM: 615850 HomoloGene: 6264 GeneCards: VPS53 Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 55275 | 68299 | |||||||||||
| Ensembl | ENSG00000141252 | ENSMUSG00000017288 | |||||||||||
| UniProt | Q5VIR6 | Q8CCB4 | |||||||||||
| RefSeq (mRNA) | NM_001128159 | NM_026664 | |||||||||||
| RefSeq (protein) | NP_001121631 | NP_080940 | |||||||||||
| Location (UCSC) |
Chr 17: 0.51 – 0.72 Mb |
Chr 11: 76.05 – 76.18 Mb | |||||||||||
| PubMed search | |||||||||||||
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
- ↑ "Entrez Gene: Vacuolar protein sorting 53 homolog (S. cerevisiae)". Retrieved 2014-04-30.
- ↑ 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, O. S. (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
- Cardoso, C; Leventer, R. J.; Ward, H. L.; Toyo-Oka, K; Chung, J; Gross, A; Martin, C. L.; Allanson, J; Pilz, D. T.; Olney, A. H.; Mutchinick, O. M.; Hirotsune, S; Wynshaw-Boris, A; Dobyns, W. B.; Ledbetter, D. H. (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". The American Journal of Human Genetics 72 (4): 918–30. doi:10.1086/374320. PMC 1180354. PMID 12621583.
- Pérez-Victoria, F. J.; Schindler, C; Magadán, J. G.; Mardones, G. A.; Delevoye, C; Romao, M; Raposo, G; Bonifacino, J. S. (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, J. D.; Fei, Q; Wang, P; Lan, F; Mao Da, Q; Zhang, H. Y.; Yao, X. B. (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, F. J.; Bonifacino, J. S. (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, J. K.; Choi, K. H.; Pan, Z; Lin, P; Weisleder, N; Kim, C. W.; Ma, J (2007). "The tail-anchoring domain of Bfl1 and HCCS1 targets mitochondrial membrane permeability to induce apoptosis". Journal of Cell Science 120 (Pt 16): 2912–23. doi:10.1242/jcs.006197. PMID 17666431.
- Liewen, H; Meinhold-Heerlein, I; Oliveira, V; Schwarzenbacher, R; Luo, G; Wadle, A; Jung, M; Pfreundschuh, M; Stenner-Liewen, F (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, M. W.; Chong, W; Chen, J; Zhang, L; Yang, N; Xu, B; Wu, M; Zuo, L; Gu, J (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, F. J.; Mardones, G. A.; Bonifacino, J. S. (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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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