RAB27A
| RAB27A, member RAS oncogene family | |||||||||||
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| Identifiers | |||||||||||
| Symbols | RAB27A ; GS2; HsT18676; MGC117246; RAB27; RAM | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 3069 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE RAB27A 209514 s at tn.png | |||||||||||
| File:PBB GE RAB27A 209515 s at tn.png | |||||||||||
| File:PBB GE RAB27A 210951 x at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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RAB27A, member RAS oncogene family, also known as RAB27A, is a human gene.[1]
The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified.[1]
See also
References
Further reading
- Nagata K, Itoh H, Katada T; et al. (1989). "Purification, identification, and characterization of two GTP-binding proteins with molecular weights of 25,000 and 21,000 in human platelet cytosol. One is the rap1/smg21/Krev-1 protein and the other is a novel GTP-binding protein". J. Biol. Chem. 264 (29): 17000–5. PMID 2507536.
- Seabra MC, Ho YK, Anant JS (1995). "Deficient geranylgeranylation of Ram/Rab27 in choroideremia". J. Biol. Chem. 270 (41): 24420–7. PMID 7592656.
- Chen D, Guo J, Miki T; et al. (1997). "Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets". Biochem. Mol. Med. 60 (1): 27–37. PMID 9066979.
- Tolmachova T, Ramalho JS, Anant JS; et al. (1999). "Cloning, mapping and characterization of the human RAB27A gene". Gene. 239 (1): 109–16. PMID 10571040.
- Ménasché G, Pastural E, Feldmann J; et al. (2000). "Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome". Nat. Genet. 25 (2): 173–6. doi:10.1038/76024. PMID 10835631.
- Hu RM, Han ZG, Song HD; et al. (2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning". Proc. Natl. Acad. Sci. U.S.A. 97 (17): 9543–8. doi:10.1073/pnas.160270997. PMID 10931946.
- Haddad EK, Wu X, Hammer JA, Henkart PA (2001). "Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice". J. Cell Biol. 152 (4): 835–42. PMID 11266473.
- Bahadoran P, Aberdam E, Mantoux F; et al. (2001). "Rab27a: A key to melanosome transport in human melanocytes". J. Cell Biol. 152 (4): 843–50. PMID 11266474.
- Xu XR, Huang J, Xu ZG; et al. (2002). "Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver". Proc. Natl. Acad. Sci. U.S.A. 98 (26): 15089–94. doi:10.1073/pnas.241522398. PMID 11752456.
- Kuroda TS, Fukuda M, Ariga H, Mikoshiba K (2002). "The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain". J. Biol. Chem. 277 (11): 9212–8. doi:10.1074/jbc.M112414200. PMID 11773082.
- Fukuda M, Kuroda TS, Mikoshiba K (2002). "Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport". J. Biol. Chem. 277 (14): 12432–6. doi:10.1074/jbc.C200005200. PMID 11856727.
- Yi Z, Yokota H, Torii S; et al. (2002). "The Rab27a/granuphilin complex regulates the exocytosis of insulin-containing dense-core granules". Mol. Cell. Biol. 22 (6): 1858–67. PMID 11865063.
- Strom M, Hume AN, Tarafder AK; et al. (2002). "A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport". J. Biol. Chem. 277 (28): 25423–30. doi:10.1074/jbc.M202574200. PMID 11980908.
- Wu X, Wang F, Rao K; et al. (2002). "Rab27a is an essential component of melanosome receptor for myosin Va". Mol. Biol. Cell. 13 (5): 1735–49. doi:10.1091/mbc.01-12-0595. PMID 12006666.
- Kuroda TS, Fukuda M, Ariga H, Mikoshiba K (2002). "Synaptotagmin-like protein 5: a novel Rab27A effector with C-terminal tandem C2 domains". Biochem. Biophys. Res. Commun. 293 (3): 899–906. doi:10.1016/S0006-291X(02)00320-0. PMID 12051743.
- Anikster Y, Huizing M, Anderson PD; et al. (2002). "Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A". Am. J. Hum. Genet. 71 (2): 407–14. PMID 12058346.
- Nagashima K, Torii S, Yi Z; et al. (2002). "Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions". FEBS Lett. 517 (1–3): 233–8. PMID 12062444.
- Torii S, Zhao S, Yi Z; et al. (2002). "Granuphilin modulates the exocytosis of secretory granules through interaction with syntaxin 1a". Mol. Cell. Biol. 22 (15): 5518–26. PMID 12101244.
- Wistow G, Bernstein SL, Wyatt MK; et al. (2002). "Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants". Mol. Vis. 8: 205–20. PMID 12107410.
- Barral DC, Ramalho JS, Anders R; et al. (2002). "Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome". J. Clin. Invest. 110 (2): 247–57. PMID 12122117.
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