VPS37A
| Vacuolar protein sorting 37 homolog A (S. cerevisiae) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | VPS37A ; HCRP1; PQBP2; SPG53 | ||||||||||||
| External IDs | OMIM: 609927 HomoloGene: 45120 GeneCards: VPS37A Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 137492 | 52348 | |||||||||||
| Ensembl | ENSG00000155975 | ENSMUSG00000031600 | |||||||||||
| UniProt | Q8NEZ2 | Q8CHS8 | |||||||||||
| RefSeq (mRNA) | NM_001145152 | NM_033560 | |||||||||||
| RefSeq (protein) | NP_001138624 | NP_291038 | |||||||||||
| Location (UCSC) |
Chr 8: 17.25 – 17.3 Mb |
Chr 8: 40.51 – 40.55 Mb | |||||||||||
| PubMed search | |||||||||||||
Vacuolar protein sorting 37 homolog A (S. cerevisiae) is a protein in humans that is encoded by the VPS37A gene.[1] It is a member of the endosomal sorting complex required for transport (ESCRT) system.[2]
Clinical significance
A missense mutation (K382N) in VPS37A protein has been shown to cause complex hereditary spastic paraparesis (cHSP).[3]
References
- ↑ "Entrez Gene: Vacuolar protein sorting 37 homolog A (S. cerevisiae)". Retrieved 2012-04-20.
- ↑ Bache KG, Slagsvold T, Cabezas A, Rosendal KR, Raiborg C, Stenmark H (September 2004). "The growth-regulatory protein HCRP1/hVps37A is a subunit of mammalian ESCRT-I and mediates receptor down-regulation". Mol. Biol. Cell 15 (9): 4337–46. doi:10.1091/mbc.E04-03-0250. PMC 515363. PMID 15240819.
- ↑ Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC (June 2012). "A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis". J Med Genet 49 (7): 462–72. doi:10.1136/jmedgenet-2012-100742. PMID 22717650.
Further reading
- Tsunematsu T, Yamauchi E, Shibata H, Maki M, Ohta T, Konishi H (2010). "Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications". Biochemical and Biophysical Research Communications 399 (2): 232–237. doi:10.1016/j.bbrc.2010.07.060. PMID 20654576.
- Levy D, Larson MG, Benjamin EJ, Newton-Cheh C, Wang TJ, Hwang SJ, Vasan RS, Mitchell GF (2007). "Framingham Heart Study 100K Project: Genome-wide associations for blood pressure and arterial stiffness". BMC Medical Genetics 8: S3. doi:10.1186/1471-2350-8-S1-S3. PMC 1995621. PMID 17903302.
- Xu Z, Liang L, Wang H, Li T, Zhao M (2003). "HCRP1, a novel gene that is downregulated in hepatocellular carcinoma, encodes a growth-inhibitory protein". Biochemical and Biophysical Research Communications 311 (4): 1057–1066. doi:10.1016/j.bbrc.2003.10.109. PMID 14623289.
- Eastman SW, Martin-Serrano J, Chung W, Zang T, Bieniasz PD (2004). "Identification of human VPS37C, a component of ESCRT-I important for viral budding". Journal of Biological Chemistry 280 (1): 628–636. doi:10.1074/jbc.M410384200. PMID 15509564.
- Imafuku I, Waragai M, Takeuchi S, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H (1998). "Polar Amino Acid-Rich Sequences Bind to Polyglutamine Tracts". Biochemical and Biophysical Research Communications 253 (1): 16–20. doi:10.1006/bbrc.1998.9725. PMID 9875212.
- Stuchell MD, Garrus JE, Müller B, Stray KM, Ghaffarian S, McKinnon R, Kräusslich HG, Morham SG, Sundquist WI (2004). "The Human Endosomal Sorting Complex Required for Transport (ESCRT-I) and Its Role in HIV-1 Budding". Journal of Biological Chemistry 279 (34): 36059–36071. doi:10.1074/jbc.M405226200. PMID 15218037.
- Lippincott-Schwartz J, Roberts TH, Hirschberg K (2000). "Secretoryproteintrafficking Andorganelledynamics Inlivingcells1". Annual Review of Cell and Developmental Biology 16: 557–589. doi:10.1146/annurev.cellbio.16.1.557. PMID 11031247.
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