Protein-coding gene in the species Homo sapiens
| RAB27A |
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| Identifiers |
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| Aliases | RAB27A, GS2, HsT18676, RAB27, RAM, member RAS oncogene family |
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| External IDs | OMIM: 603868 MGI: 1861441 HomoloGene: 3069 GeneCards: RAB27A |
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| Gene location (Human) |
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 | | Chr. | Chromosome 15 (human)[1] |
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| | Band | 15q21.3 | Start | 55,202,966 bp[1] |
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| End | 55,319,113 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 9 (mouse)[2] |
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| | Band | 9 D|9 40.08 cM | Start | 72,952,136 bp[2] |
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| End | 73,004,911 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - trabecular bone
- monocyte
- lower lobe of lung
- bone marrow
- bone marrow cells
- blood
- secondary oocyte
- retinal pigment epithelium
- rectum
- pylorus
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| | 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
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| | More reference expression data |
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| BioGPS | 
 | | More reference expression data |
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| Gene ontology |
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| 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | |
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NM_004580
NM_183234
NM_183235
NM_183236 |
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NM_001301230
NM_001301232
NM_023635 |
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| RefSeq (protein) | |
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NP_004571
NP_899057
NP_899058
NP_899059 |
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NP_001288159
NP_001288161
NP_076124 |
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| Location (UCSC) | Chr 15: 55.2 – 55.32 Mb | Chr 9: 72.95 – 73 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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
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.
- ^ 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.
- ^ a b "Entrez Gene: RAB27A RAB27A, member RAS oncogene family".
- ^ 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.
- ^ 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.
- ^ a b c 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ a b 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.
- ^ a b 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.
