Protein-coding gene in the species Homo sapiens
| RAB18 |
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| Available structures |
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| PDB | Ortholog search: PDBe RCSB |
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| Identifiers |
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| Aliases | RAB18, RAB18LI1, WARBM3, member RAS oncogene family |
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| External IDs | OMIM: 602207; MGI: 102790; HomoloGene: 40765; GeneCards: RAB18; OMA:RAB18 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 10 (human)[1] |
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| | Band | 10p12.1 | Start | 27,504,174 bp[1] |
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| End | 27,543,207 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 18 (mouse)[2] |
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| | Band | 18 A1|18 4.53 cM | Start | 6,733,905 bp[2] |
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| End | 6,794,429 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - cardiac muscle tissue of right atrium
- skin of arm
- myocardium of left ventricle
- decidua
- Achilles tendon
- tibialis anterior muscle
- retinal pigment epithelium
- islet of Langerhans
- mucosa of ileum
- corpus epididymis
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| | Top expressed in | - extensor digitorum longus muscle
- plantaris muscle
- cingulate gyrus
- pineal gland
- calvaria
- central gray substance of midbrain
- skin of external ear
- right kidney
- yolk sac
- cardiac muscle tissue of left ventricle
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| | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| Molecular function | - nucleotide binding
- GTP binding
- protein binding
- GDP binding
- GTPase activity
| | Cellular component | - intracellular anatomical structure
- membrane
- endoplasmic reticulum tubular network
- cytosol
- endoplasmic reticulum membrane
- plasma membrane
- secretory granule membrane
- Golgi apparatus
- synapse
| | Biological process | - eye development
- protein transport
- multicellular organism development
- endoplasmic reticulum tubular network organization
- brain development
- lipid droplet organization
- neutrophil degranulation
- small GTPase mediated signal transduction
- import into nucleus
- 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_001256410
NM_001256411
NM_001256412
NM_001256415
NM_021252 |
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| RefSeq (protein) | |
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NP_001243339
NP_001243340
NP_001243341
NP_001243344
NP_067075 |
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| Location (UCSC) | Chr 10: 27.5 – 27.54 Mb | Chr 18: 6.73 – 6.79 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-18 is a protein that in humans is encoded by the RAB18 gene.[5][6] It is a member of the Rab family of Ras-related small GTPases.[7]
Rab18 is a ubiquitously expressed protein with particularly high expression in the brain.[8] Rab18 was first characterised as an endosomal protein in epithelial cells of mouse kidney and intestines.[8] Subsequent studies revealed that Rab18 has a wide intracellular distribution; localising to the Golgi complex, endoplasmic reticulum, lipid droplets, and cytosol of various cell types.[7][9][10] In the brain, Rab18 has been isolated in association with synaptic vesicles[11][12] and has been observed to localise to secretory granules in neuroendocrine cells.[13]
Mutations in RAB18, RAB3GAP1, RAB3GAP2, or TBC1D20 are thought to cause Warburg Micro syndrome by disrupting RAB18 function. RAB3GAP1, RAB3GAP2, and TBC1D20 genes offer instructions for creating proteins that regulate RAB18.[14] The RAB3GAP1 and RAB3GAP2 proteins interact and create a guanine–nucleotide exchange factor complex that activates RAB18. The TBC1D20 protein may inactivate RAB18 by acting as a GTPase-activating protein for it.[14][15]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000099246 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000073639 – 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.
- ^ Schafer U, Seibold S, Schneider A, Neugebauer E (Feb 2000). "Isolation and characterisation of the human rab18 gene after stimulation of endothelial cells with histamine". FEBS Lett. 466 (1): 148–54. doi:10.1016/S0014-5793(99)01778-0. PMID 10648831. S2CID 31093183.
- ^ "Entrez Gene: RAB18 RAB18, member RAS oncogene family".
- ^ a b Dejgaard SY, Murshid A, Erman A, Kizilay O, Verbich D, Lodge R, Dejgaard K, Ly-Hartig TB, Pepperkok R, Simpson JC, Presley JF (August 2008). "Rab18 and Rab43 have key roles in ER-Golgi trafficking". J. Cell Sci. 121 (Pt 16): 2768–81. doi:10.1242/jcs.021808. PMID 18664496.
- ^ a b Lütcke A, Parton RG, Murphy C, Olkkonen VM, Dupree P, Valencia A, Simons K, Zerial M (December 1994). "Cloning and subcellular localization of novel rab proteins reveals polarized and cell type-specific expression" (PDF). J. Cell Sci. 107 (12): 3437–48. doi:10.1242/jcs.107.12.3437. PMID 7706395.
- ^ Martin S, Driessen K, Nixon SJ, Zerial M, Parton RG (December 2005). "Regulated localization of Rab18 to lipid droplets: effects of lipolytic stimulation and inhibition of lipid droplet catabolism" (PDF). J. Biol. Chem. 280 (51): 42325–35. doi:10.1074/jbc.M506651200. PMID 16207721. S2CID 30398568.
- ^ Ozeki S, Cheng J, Tauchi-Sato K, Hatano N, Taniguchi H, Fujimoto T (June 2005). "Rab18 localizes to lipid droplets and induces their close apposition to the endoplasmic reticulum-derived membrane". J. Cell Sci. 118 (Pt 12): 2601–11. doi:10.1242/jcs.02401. PMID 15914536.
- ^ Burré J, Beckhaus T, Corvey C, Karas M, Zimmermann H, Volknandt W (September 2006). "Synaptic vesicle proteins under conditions of rest and activation: analysis by 2-D difference gel electrophoresis". Electrophoresis. 27 (17): 3488–96. doi:10.1002/elps.200500864. PMID 16944461. S2CID 43618245.
- ^ Takamori S, Holt M, Stenius K, Lemke EA, Grønborg M, Riedel D, Urlaub H, Schenck S, Brügger B, Ringler P, Müller SA, Rammner B, Gräter F, Hub JS, De Groot BL, Mieskes G, Moriyama Y, Klingauf J, Grubmüller H, Heuser J, Wieland F, Jahn R (November 2006). "Molecular anatomy of a trafficking organelle". Cell. 127 (4): 831–46. doi:10.1016/j.cell.2006.10.030. hdl:11858/00-001M-0000-0012-E357-D. PMID 17110340. S2CID 6703431.
- ^ Vazquez-Martinez R, Cruz-Garcia D, Duran-Prado M, Peinado JR, Castaño JP, Malagon MM (July 2007). "Rab18 inhibits secretory activity in neuroendocrine cells by interacting with secretory granules". Traffic. 8 (7): 867–82. doi:10.1111/j.1600-0854.2007.00570.x. PMID 17488286. S2CID 9987968.
- ^ a b "RAB18 deficiency: MedlinePlus Genetics". Retrieved 27 September 2023.
- ^ Handley MT, Carpanini SM, Mali GR, Sidjanin DJ, Aligianis IA, Jackson IJ, FitzPatrick DR (2015). "Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation". Open Biology. 5 (6). doi:10.1098/rsob.150047. PMC 4632505. PMID 26063829. 150047.
Further reading
- Adams MD, Kerlavage AR, Fleischmann RD, et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF). Nature. 377 (6547 Suppl): 3–174. PMID 7566098.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- 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. Bibcode:2000PNAS...97.9543H. doi:10.1073/pnas.160270997. PMC 16901. PMID 10931946.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Behrends U, Schneider I, Rössler S, et al. (2003). "Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries". Int. J. Cancer. 106 (2): 244–51. doi:10.1002/ijc.11208. PMID 12800201. S2CID 36836051.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. Bibcode:2004Natur.429..375D. doi:10.1038/nature02462. PMID 15164054.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Dou T, Ji C, Gu S, et al. (2006). "Cloning and characterization of a novel splice variant of human Rab18 gene (RAB18)". DNA Seq. 16 (3): 230–4. doi:10.1080/10425170500061681. PMID 16147880. S2CID 45143893.
- Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
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1x3s: Crystal structure of human Rab18 in complex with Gppnhp
