RAB27A
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| Location (UCSC) | Chr 15: 55.2 – 55.32 Mb | Chr 9: 72.95 – 73 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene.[5][6]
Function
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 and hemophagocytic lymphohistiocytosis. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified.[6]
The RAB27A gene is regulated by the Microphthalmia-associated transcription factor.[7][8]
Interactions
RAB27A has been shown to
interact
with:
See also
- Rab27
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000069974 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032202 – Ensembl, May 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.
- PMID 7592656.
- ^ a b "Entrez Gene: RAB27A RAB27A, member RAS oncogene family".
- PMID 18281284.
- PMID 19067971.
- ^ PMID 11773082.
- PMID 12006666.
- PMID 12062444.
- PMID 14593078.
- PMID 12578829.
- ^ PMID 12590134.
- ^ PMID 11980908.
Further reading
- Nagata K, Itoh H, Katada T, Takenaka K, Ui M, Kaziro Y, Nozawa Y (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.
- Chen D, Guo J, Miki T, Tachibana M, Gahl WA (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, Schultz RA, Huxley CM, Seabra MC (1999). "Cloning, mapping and characterization of the human RAB27A gene". Gene. 239 (1): 109–16. PMID 10571040.
- Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G (2000). "Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome". Nat. Genet. 25 (2): 173–6. S2CID 7698624.
- Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL (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. 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, Buscà R, Bille K, Yalman N, de Saint-Basile G, Casaroli-Marano R, Ortonne JP, Ballotti R (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, Qian BZ, Zhu ZD, Yan Q, Cai T, Zhang X, Xiao HS, Qu J, Liu F, Huang QH, Cheng ZH, Li NG, Du JJ, Hu W, Shen KT, Lu G, Fu G, Zhong M, Xu SH, Gu WY, Huang W, Zhao XT, Hu GX, Gu JR, Chen Z, Han ZG (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. 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. 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. PMID 11856727.
- Yi Z, Yokota H, Torii S, Aoki T, Hosaka M, Zhao S, Takata K, Takeuchi T, Izumi T (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, Barkagianni E, Seabra MC (2002). "A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport". J. Biol. Chem. 277 (28): 25423–30. PMID 11980908.
- Wu X, Wang F, Rao K, Sellers JR, Hammer JA (2002). "Rab27a is an essential component of melanosome receptor for myosin Va". Mol. Biol. Cell. 13 (5): 1735–49. 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. PMID 12051743.
- Anikster Y, Huizing M, Anderson PD, Fitzpatrick DL, Klar A, Gross-Kieselstein E, Berkun Y, Shazberg G, Gahl WA, Hurvitz H (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, Igarashi M, Okamoto K, Takeuchi T, Izumi T (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, Takeuchi T, Izumi T (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, Fariss RN, Behal A, Touchman JW, Bouffard G, Smith D, Peterson K (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, Hume AN, Knapton HJ, Tolmachova T, Collinson LM, Goulding D, Authi KS, Seabra MC (2002). "Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome". J. Clin. Invest. 110 (2): 247–57. PMID 12122117.