RAB27A

RAB27A
Identifiers
Aliases	RAB27A , GS2, HsT18676, RAB27, RAM, member RAS oncogene family
External IDs	OMIM: 603868 MGI: 1861441 HomoloGene: 3069 GeneCards: RAB27A
Gene location (Human) Chr. Chromosome 15 (human) [1] Band 15q21.3 Start 55,202,966 bp [1] End 55,319,113 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9 D|9 40.08 cM Start 72,952,136 bp [2] End 73,004,911 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spongy bone monocyte lower lobe of lung bone marrow bone marrow cells blood secondary oocyte retinal pigment epithelium rectum pylorus Top expressed in retinal pigment epithelium epithelium of stomach lacrimal gland iris salivary gland islet of Langerhans parotid gland left lung lobe ciliary body submandibular gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein domain specific binding GDP binding GTP binding myosin V binding protein binding GTPase activity Cellular component Weibel-Palade body endosome late endosome Golgi apparatus multivesicular body membrane exocytic vesicle secretory granule membrane membrane melanosome photoreceptor outer segment secretory granule dendrite apical plasma membrane lysosome extracellular exosome extracellular region cytosol melanosome membrane specific granule lumen synapse Biological process positive regulation of reactive oxygen species biosynthetic process natural killer cell degranulation protein targeting positive regulation of phagocytosis antigen processing and presentation multivesicular body sorting pathway pigment granule localization blood coagulation melanosome localization pigment granule transport positive regulation of gene expression multivesicular body organization melanosome transport positive regulation of constitutive secretory pathway synaptic vesicle transport complement-dependent cytotoxicity pigmentation cytotoxic T cell degranulation exosomal secretion positive regulation of exocytosis melanocyte differentiation vesicle-mediated transport positive regulation of regulated secretory pathway exocytosis neutrophil degranulation intracellular protein transport Rab protein signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5873 11891 Ensembl ENSG00000069974 ENSMUSG00000032202 UniProt P51159 Q9ERI2 RefSeq (mRNA) NM_004580 NM_183234 NM_183235 NM_183236 NM_001301230 NM_001301232 NM_023635 RefSeq (protein) NP_004571 NP_899057 NP_899058 NP_899059 NP_001288159 NP_001288161 NP_076124 Location (UCSC) Chr 15: 55.2 – 55.32 Mb Chr 9: 72.95 – 73 Mb PubMed search [3] [4]
Wikidata
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:

• EXPH5, ^[9]
• MYO5A, ^{[10] [11]}
• RPH3AL ^{[12] [13]}
• SYTL1, ^{[9] [14] [15]} and
• SYTL2. ^{[9] [14] [15]}

See also

• Rab27

References

1. GRCh38: Ensembl release 89: ENSG00000069974 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000032202 - Ensembl, May 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.
5. Seabra MC, Ho YK, Anant JS (Dec 1995). "Deficient geranylgeranylation of Ram/Rab27 in choroideremia". J Biol Chem. 270 (41): 24420–7. doi: 10.1074/jbc.270.41.24420 . PMID   7592656.
6. "Entrez Gene: RAB27A RAB27A, member RAS oncogene family".
7. Chiaverini C, Beuret L, Flori E, Busca R, Abbe P, Bille K, Bahadoran P, Ortonne JP, Bertolotto C, Ballotti R (2008). "Microphthalmia-associated transcription factor regulates RAB27A gene expression and controls melanosome transport". J. Biol. Chem. 283 (18): 12635–42. doi: 10.1074/jbc.M800130200 . PMID   18281284.
8. Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi: 10.1111/j.1755-148X.2008.00505.x . PMID   19067971.
9. Kuroda TS, Fukuda M, Ariga H, Mikoshiba K (Mar 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.
10. Wu X, Wang F, Rao K, Sellers JR, Hammer JA (May 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. PMC   111140 . PMID   12006666.
11. Nagashima K, Torii S, Yi Z, Igarashi M, Okamoto K, Takeuchi T, Izumi T (Apr 2002). "Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions". FEBS Lett. 517 (1–3): 233–8. doi: 10.1016/s0014-5793(02)02634-0 . PMID   12062444.
12. Cheviet S, Coppola T, Haynes LP, Burgoyne RD, Regazzi R (Jan 2004). "The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis". Mol. Endocrinol. 18 (1): 117–26. doi: 10.1210/me.2003-0300 . PMID   14593078.
13. Fukuda M (Apr 2003). "Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". J. Biol. Chem. 278 (17): 15373–80. doi: 10.1074/jbc.M212341200 . PMID   12578829.
14. Fukuda M (Apr 2003). "Slp4-a/granuphilin-a inhibits dense-core vesicle exocytosis through interaction with the GDP-bound form of Rab27A in PC12 cells". J. Biol. Chem. 278 (17): 15390–6. doi: 10.1074/jbc.M213090200 . PMID   12590134.
15. Strom M, Hume AN, Tarafder AK, Barkagianni E, Seabra MC (Jul 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.

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. doi: 10.1016/S0021-9258(18)71450-6 . 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. doi:10.1006/bmme.1996.2559. 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. doi:10.1016/S0378-1119(99)00371-6. 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. doi:10.1038/76024. PMID   10835631. 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. Bibcode:2000PNAS...97.9543H. doi: 10.1073/pnas.160270997 . PMC   16901 . 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. doi:10.1083/jcb.152.4.835. PMC   2195776 . 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. doi:10.1083/jcb.152.4.843. PMC   2195788 . 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. Bibcode:2001PNAS...9815089X. doi: 10.1073/pnas.241522398 . PMC   64988 . 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, 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. doi:10.1128/MCB.22.6.1858-1867.2002. PMC   135591 . 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. doi: 10.1074/jbc.M202574200 . 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. doi:10.1091/mbc.01-12-0595. PMC   111140 . 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, 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. doi:10.1086/341606. PMC   379173 . 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. doi: 10.1016/S0014-5793(02)02634-0 . 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. doi:10.1128/MCB.22.15.5518-5526.2002. PMC   133943 . 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. doi:10.1172/JCI15058. PMC   151050 . PMID   12122117.