RAB18

RAB18
사용 가능한 구조
PDB	Ortholog 검색: PDBe RCSB
PDB ID 코드 목록
	1X3S
식별자
에일리어스	RAB18, RAB18LI1, WARBM3, 멤버 RAS 발암 유전자 패밀리
외부 ID	OMIM: 602207 MGI: 102790 HomoloGene: 40765 GeneCard: RAB18
유전자 위치(인간)
크르.	10번 염색체(인간)
끝.	27,543,207 bp
유전자 위치(마우스)
크르.	18번 염색체(쥐)
끝.	6,794,429 bp
RNA발현패턴
	상단 표시 위치:
	아킬레스건; ; 정강이뼈전근; ; 망막 색소 상피; ; 랑게르한스 섬; ; 부고환 말뭉치; ; 삼각근; ; 우심실; ; 자궁내막간질세포; ; 부고환 카푸트; ; 췌상피세포;
	추가 참조 표현식 데이터
	없음
유전자 존재론
분자 함수	뉴클레오티드 결합; GTP 바인딩; GO:0001948 단백질 결합; GDP 바인딩; GO:0006184 GTPase 액티비티;
셀룰러 컴포넌트	세포내 해부학적 구조; 막; 소포체관망; 세포; 소포체막; 혈장막; 분비 과립막; 골지 장치; 시냅스;
생물학적 과정	눈의 발달; 단백질 수송; 다세포 생물 발달; 소포체관망조직; 뇌의 발달; 지질액적배합; 호중구 탈과립; GTPase 매개 신호 전달; 핵으로 수입하다; 세포내단백질; 랍단백질신호;
	출처:아미고 / QuickGO
맞춤법
	22931
	19330
	ENSG000099246
	ENSMUSG000073639
	Q9NP72
	P35293
	NM_001256410; NM_001256411; NM_001256412; NM_001256415; NM_021252
	NM_001278447; NM_181070
	NP_001243339; NP_001243340; NP_001243341; NP_001243344; NP_067075
	NP_001265376; NP_851415
	위키데이터
인간 보기/편집	마우스 표시/편집

Ras 관련 단백질 Rab-18은 인간에서 RAB18 ^[5]^[6]유전자에 의해 암호화되는 단백질이다.

Rab18은 ^[7]뇌에서 특히 높은 발현을 보이는 보편적으로 발현되는 단백질이다.Rab18은 생쥐의 신장과 ^[7]장의 상피세포에서 내염색체 단백질로 처음 특징지어졌다.후속 연구는 Rab18이 광범위한 세포 내 분포를 가지고 있다는 것을 밝혀냈다; 골지 복합체, 소포체, 지질 방울, 그리고 다양한 ^[8]^[9]^[10]세포 유형의 세포에 대한 국소화.뇌에서 Rab18은 시냅스 소포와^[11]^[12] 함께 분리되었고 신경내분비세포의 ^[13]분비과립에 국재하는 것이 관찰되었다.

RAB18, RAB3GAP1, RAB3GAP2, 또는 TBC1D20의 돌연변이는 RAB18 기능을 방해함으로써 워버그 마이크로 증후군을 일으키는 것으로 생각된다.RAB3GAP1, RAB3GAP2, TBC1D20 유전자는 RAB18을 조절하는 단백질을 만드는 지침을 제공합니다.RAB3GAP1과 RAB3GAP2 단백질은 상호작용하여 RAB18을 활성화하는 복합체를 형성한다.TBC1D20 단백질은 RAB18을 끕니다.^[14]

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG000099246 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000073639 - 앙상블, 2017년 5월
^ "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 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.
^ 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.
^ 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.
^ "RAB18 deficiency: MedlinePlus Genetics".

추가 정보

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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. 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.
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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.

인간 10번 염색체의 유전자에 대한 이 기사는 뭉툭한 것이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG000099246 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000073639 - 앙상블, 2017년 5월

[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.

[pmid10648831-5] 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-6] "Entrez Gene: RAB18 RAB18, member RAS oncogene family".

[Lütcke_1994-7] 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.

[Dejgaard_2008-8] 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.

[Martin_2005-9] 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_2005-10] 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_2006-11] 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_2006-12] 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_2007-13] 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.

[14] "RAB18 deficiency: MedlinePlus Genetics".

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RAB18

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