TBC1D4

TBC1D4
사용 가능한 구조
PDB	Ortholog 검색: PDBe RCSB
PDB ID 코드 목록
	3분기
식별자
에일리어스	TBC1D4, AS160, NIDDM5, TBC1 도메인패밀리 멤버 4
외부 ID	OMIM : 612465 MGI : 2429660 HomoloGene : 45451 GenCard : TBC1D4
유전자 위치(인간)
크르.	13번 염색체(인간)
끝.	75,482,194 bp
유전자 위치(마우스)
크르.	14번 염색체(쥐)
끝.	101,846,627 bp
RNA발현패턴
	상단 표시 위치:
	신장수질; ; 흉부 횡격막; ; 외측 광대근; ; 이하선; ; 부고환 카푸트; ; 부고환 말뭉치; ; 좌부신; ; 상완 삼두근; ; 삼각근; ; 설체;
	추가 참조 표현식 데이터
	; ;
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	GO:0005097, GO:0005099, GO:0005100 GTPase 액티베이터 액티베이션;
셀룰러 컴포넌트	내막계; 세포내 해부학적 구조; 세포질; 세포; 베시클;
생물학적 과정	소포체 수송; 소포융합의 음성조절; 인슐린 자극에 대한 세포 반응; 소포융착조절; GTPase 액티비티의 GO:0032861, GO:0032862, GO:0032856 활성화; 세포내단백질;
	출처:아미고 / QuickGO
맞춤법
	9882
	210789
	ENSG00000136111
	ENSMUSG000033083
	O60343
	Q8BYJ6
	NM_001286658; NM_001286659; NM_014832
	NM_001081278; NM_173380
	NP_001273587; NP_001273588; NP_055647
	NP_001074747; NP_001391600; NP_001391601; NP_001391602; NP_001391603
	위키데이터
인간 보기/편집	마우스 표시/편집

원래 TBC1 도메인 패밀리 멤버 4(TBC1D4)^[5]로 알려진 AS160(Akt 기질 160kDa)은 인간에서 TBC1D4 ^[6]^[7]^[8]^[9]유전자에 의해 암호화되는 Rab GTPase 활성화 단백질이다.

160kD 단백질 제품은 인슐린 자극 ^[11]후 Thr-642 및 Ser-588에서^[5]^[10] AS160을 인산화시키는 세린-트레오닌 키나제 Akt2의 새로운 기질 스크린에서 처음 발견되었다.지방 및 근육세포의 인슐린 자극은 포도당수송체 GLUT4를 혈장막으로 전위시키는 결과를 가져오며, 이 전위 과정은 AS160의 ^[12]인산화에 의존한다.GLUT4 전위에서의 AS160의 역할은 GTPase 활성화 도메인과 소포 형성에서 Rab 단백질과의 상호작용에 의해 매개되며, Akt 인산화로 GTPase 활성이 억제될 때 GLUT4 전위치를 증가시킨다.구체적으로는 이 억제는 RAB2A, RAB8A, RAB10 및 RAB14를 ^[13]활성화한다.

AS160은 또한 칼모듈린 결합 도메인을 포함하고, 이 도메인은 근육세포에서 ^[14]인산화비의존성 포도당 흡수를 매개한다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000136111 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000033083 - 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.
^ ^a ^b Sakamoto K, Holman GD (2008). "Emerging role for AS160/TBC1D4 and TBC1D1 in the regulation of GLUT4 traffic". Am. J. Physiol. Endocrinol. Metab. 295 (1): E29–37. doi:10.1152/ajpendo.90331.2008. PMC 2493596. PMID 18477703.
^ Kurihara LJ, Semenova E, Miller W, Ingram RS, Guan XJ, Tilghman SM (Feb 2002). "Candidate genes required for embryonic development: a comparative analysis of distal mouse chromosome 14 and human chromosome 13q22". Genomics. 79 (2): 154–61. CiteSeerX 10.1.1.16.1099. doi:10.1006/geno.2002.6692. PMID 11829485.
^ Kane S, Sano H, Liu SC, Asara JM, Lane WS, Garner CC, Lienhard GE (Jun 2002). "A method to identify serine kinase substrates. Akt phosphorylates a novel adipocyte protein with a Rab GTPase-activating protein (GAP) domain". The Journal of Biological Chemistry. 277 (25): 22115–8. doi:10.1074/jbc.C200198200. PMID 11994271.
^ Matsumoto Y, Imai Y, Lu Yoshida N, Sugita Y, Tanaka T, Tsujimoto G, Saito H, Oshida T (Aug 2004). "Upregulation of the transcript level of GTPase activating protein KIAA0603 in T cells from patients with atopic dermatitis". FEBS Letters. 572 (1–3): 135–40. doi:10.1016/j.febslet.2004.07.023. PMID 15304337.
^ "Entrez Gene: TBC1D4 TBC1 domain family, member 4".
^ Sano H, Kane S, Sano E, Mîinea CP, Asara JM, Lane WS, Garner CW, Lienhard GE (Apr 2003). "Insulin-stimulated phosphorylation of a Rab GTPase-activating protein regulates GLUT4 translocation". The Journal of Biological Chemistry. 278 (17): 14599–602. doi:10.1074/jbc.C300063200. PMID 12637568.
^ Kane S, Sano H, Liu SC, Asara JM, Lane WS, Garner CC, Lienhard GE (Jun 2002). "A method to identify serine kinase substrates. Akt phosphorylates a novel adipocyte protein with a Rab GTPase-activating protein (GAP) domain". The Journal of Biological Chemistry. 277 (25): 22115–8. doi:10.1074/jbc.C200198200. PMID 11994271.
^ Sano H, Kane S, Sano E, Mîinea CP, Asara JM, Lane WS, Garner CW, Lienhard GE (Apr 2003). "Insulin-stimulated phosphorylation of a Rab GTPase-activating protein regulates GLUT4 translocation". The Journal of Biological Chemistry. 278 (17): 14599–602. doi:10.1074/jbc.C300063200. PMID 12637568.
^ Mîinea CP, Sano H, Kane S, Sano E, Fukuda M, Peränen J, Lane WS, Lienhard GE (Oct 2005). "AS160, the Akt substrate regulating GLUT4 translocation, has a functional Rab GTPase-activating protein domain". The Biochemical Journal. 391 (Pt 1): 87–93. doi:10.1042/BJ20050887. PMC 1237142. PMID 15971998.
^ Kramer HF, Taylor EB, Witczak CA, Fujii N, Hirshman MF, Goodyear LJ (Dec 2007). "Calmodulin-binding domain of AS160 regulates contraction- but not insulin-stimulated glucose uptake in skeletal muscle". Diabetes. 56 (12): 2854–62. doi:10.2337/db07-0681. PMID 17717281.

추가 정보

Chen S, Wasserman DH, MacKintosh C, Sakamoto K (2011). "Mice with AS160/TBC1D4-Thr649Ala knockin mutation are glucose intolerant with reduced insulin sensitivity and altered GLUT4 trafficking". Cell Metabolism. 13 (1): 68–79. doi:10.1016/j.cmet.2010.12.005. PMC 3081066. PMID 21195350.
Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Feb 1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.
Nakayama M, Kikuno R, Ohara O (Nov 2002). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Research. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
Lee SY, Obata Y, Yoshida M, Stockert E, Williamson B, Jungbluth AA, Chen YT, Old LJ, Scanlan MJ (Mar 2003). "Immunomic analysis of human sarcoma". Proceedings of the National Academy of Sciences of the United States of America. 100 (5): 2651–6. Bibcode:2003PNAS..100.2651L. doi:10.1073/pnas.0437972100. PMC 151395. PMID 12601173.
Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (Aug 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S, Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett JR, Langeberg LK, Scott JD, Pawson T (Aug 2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Current Biology. 14 (16): 1436–50. doi:10.1016/j.cub.2004.07.051. PMID 15324660.
Karlsson HK, Zierath JR, Kane S, Krook A, Lienhard GE, Wallberg-Henriksson H (Jun 2005). "Insulin-stimulated phosphorylation of the Akt substrate AS160 is impaired in skeletal muscle of type 2 diabetic subjects". Diabetes. 54 (6): 1692–7. doi:10.2337/diabetes.54.6.1692. PMID 15919790.
Kim JE, Tannenbaum SR, White FM (2005). "Global phosphoproteome of HT-29 human colon adenocarcinoma cells". Journal of Proteome Research. 4 (4): 1339–46. doi:10.1021/pr050048h. PMID 16083285.
Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (Oct 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
Treebak JT, Birk JB, Rose AJ, Kiens B, Richter EA, Wojtaszewski JF (Mar 2007). "AS160 phosphorylation is associated with activation of alpha2beta2gamma1- but not alpha2beta2gamma3-AMPK trimeric complex in skeletal muscle during exercise in humans". American Journal of Physiology. Endocrinology and Metabolism. 292 (3): E715–22. doi:10.1152/ajpendo.00380.2006. PMID 17077344.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
Howlett KF, Sakamoto K, Garnham A, Cameron-Smith D, Hargreaves M (Jun 2007). "Resistance exercise and insulin regulate AS160 and interaction with 14-3-3 in human skeletal muscle". Diabetes. 56 (6): 1608–14. doi:10.2337/db06-1398. PMID 17369524.
Frøsig C, Rose AJ, Treebak JT, Kiens B, Richter EA, Wojtaszewski JF (Aug 2007). "Effects of endurance exercise training on insulin signaling in human skeletal muscle: interactions at the level of phosphatidylinositol 3-kinase, Akt, and AS160". Diabetes. 56 (8): 2093–102. doi:10.2337/db06-1698. PMID 17513702.

인간 염색체 13번 유전자에 대한 이 기사는 짧은 글이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000136111 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000033083 - 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.

[Sakamoto_2008-5] Sakamoto K, Holman GD (2008). "Emerging role for AS160/TBC1D4 and TBC1D1 in the regulation of GLUT4 traffic". Am. J. Physiol. Endocrinol. Metab. 295 (1): E29–37. doi:10.1152/ajpendo.90331.2008. PMC 2493596. PMID 18477703.

[pmid11829485-6] Kurihara LJ, Semenova E, Miller W, Ingram RS, Guan XJ, Tilghman SM (Feb 2002). "Candidate genes required for embryonic development: a comparative analysis of distal mouse chromosome 14 and human chromosome 13q22". Genomics. 79 (2): 154–61. CiteSeerX 10.1.1.16.1099. doi:10.1006/geno.2002.6692. PMID 11829485.

[pmid11994271-7] Kane S, Sano H, Liu SC, Asara JM, Lane WS, Garner CC, Lienhard GE (Jun 2002). "A method to identify serine kinase substrates. Akt phosphorylates a novel adipocyte protein with a Rab GTPase-activating protein (GAP) domain". The Journal of Biological Chemistry. 277 (25): 22115–8. doi:10.1074/jbc.C200198200. PMID 11994271.

[pmid15304337-8] Matsumoto Y, Imai Y, Lu Yoshida N, Sugita Y, Tanaka T, Tsujimoto G, Saito H, Oshida T (Aug 2004). "Upregulation of the transcript level of GTPase activating protein KIAA0603 in T cells from patients with atopic dermatitis". FEBS Letters. 572 (1–3): 135–40. doi:10.1016/j.febslet.2004.07.023. PMID 15304337.

[entrez-9] "Entrez Gene: TBC1D4 TBC1 domain family, member 4".

[10] Sano H, Kane S, Sano E, Mîinea CP, Asara JM, Lane WS, Garner CW, Lienhard GE (Apr 2003). "Insulin-stimulated phosphorylation of a Rab GTPase-activating protein regulates GLUT4 translocation". The Journal of Biological Chemistry. 278 (17): 14599–602. doi:10.1074/jbc.C300063200. PMID 12637568.

[11] Kane S, Sano H, Liu SC, Asara JM, Lane WS, Garner CC, Lienhard GE (Jun 2002). "A method to identify serine kinase substrates. Akt phosphorylates a novel adipocyte protein with a Rab GTPase-activating protein (GAP) domain". The Journal of Biological Chemistry. 277 (25): 22115–8. doi:10.1074/jbc.C200198200. PMID 11994271.

[12] Sano H, Kane S, Sano E, Mîinea CP, Asara JM, Lane WS, Garner CW, Lienhard GE (Apr 2003). "Insulin-stimulated phosphorylation of a Rab GTPase-activating protein regulates GLUT4 translocation". The Journal of Biological Chemistry. 278 (17): 14599–602. doi:10.1074/jbc.C300063200. PMID 12637568.

[13] Mîinea CP, Sano H, Kane S, Sano E, Fukuda M, Peränen J, Lane WS, Lienhard GE (Oct 2005). "AS160, the Akt substrate regulating GLUT4 translocation, has a functional Rab GTPase-activating protein domain". The Biochemical Journal. 391 (Pt 1): 87–93. doi:10.1042/BJ20050887. PMC 1237142. PMID 15971998.

[14] Kramer HF, Taylor EB, Witczak CA, Fujii N, Hirshman MF, Goodyear LJ (Dec 2007). "Calmodulin-binding domain of AS160 regulates contraction- but not insulin-stimulated glucose uptake in skeletal muscle". Diabetes. 56 (12): 2854–62. doi:10.2337/db07-0681. PMID 17717281.

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TBC1D4

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