SEPT6

셉틴6
사용 가능한 구조
PDB	Ortholog 검색: PDBe RCSB
PDB ID 코드 목록
	2QAG
식별자
에일리어스	SEPTIN6, SEP2, SEP2, 셉틴6, SEP6
외부 ID	OMIM: 300683 MGI: 1888939 HomoloGene: 62617 유전자 카드: SEPTIN6
유전자 위치(인간)
크르.	X염색체(인간)
끝.	119,693,196 bp
유전자 위치(마우스)
크르.	X염색체(쥐)
끝.	36,255,447 bp
RNA발현패턴
	상단 표시 위치:
	흉선; ; 림프절; ; 부록; ; 좌부신; ; 피; ; 골수 세포; ; 비장; ; 내피 세포; ; 상부 신경; ; 단구;
	추가 참조 표현식 데이터
	; ; ; ;
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	뉴클레오티드 결합; GTP 바인딩; GO:0001948, GO:0016582 단백질 결합; GO:0006184 GTPase 액티비티; GO:0032947 분자 어댑터 액티비티;
셀룰러 컴포넌트	세포질; 축삭 종단; 스핀들; 미드바디; 갈라진 이랑; 염색체, 중심체 영역; 세포골격; 시냅스 소포; 키네토코어; 염색체; 셉틴 고리; 셉틴 칼라; 셉틴 착화체; 정자환; 세포 투영; 운동성 섬모; 섬모; 시냅스 전; 미소관 세포골격; 셉틴 필라멘트 어레이;
생물학적 과정	세포 주기; GO:0022415 바이러스 처리; 세포 분열; 정자 형성; 세포 분화; 유사분열성 사이토키네시스; 셉틴 고리 집합체; 섬모조립체; 세포골격의존성 사이토키네시스;
	출처:아미고 / QuickGO
맞춤법
	23157
	56526
	ENSG00000125354
	ENSMUSG000050379
	문제 14141
	Q9R1T4
	NM_015129; NM_145799; NM_145800; NM_145802
NM_001177323; NM_001177324; NM_001253706; NM_01942; NM_001359140;
	NM_001359141; NM_001359142
	NP_055944; NP_665798; NP_665799; NP_665801
NP_001170794; NP_001170795; NP_001240635; NP_064326; NP_001346069;
	NP_001346070; NP_001346071
	위키데이터
인간 보기/편집	마우스 표시/편집

셉틴-6은 사람에게서 셉틴6 ^[5]^[6]^[7]유전자에 의해 암호화되는 단백질이다.

기능.

이 유전자는 GTPases의 셉틴 계열의 구성원이다.이 가족의 구성원들은 사이토키네시스에 필요하다.이 유전자는 세 개의 서로 다른 아이소폼을 코드하는 네 개의 전사 변이체를 암호화한다.추가적인 전사 변형이 확인되었지만 생물학적 타당성은 ^[7]확인되지 않았다.

임상적 의의

소아 급성 골수성 백혈병의 한 가지 버전은 혼합계 백혈병과 셉틴2 ^[7]단백질을 코드하는 유전자와 관련된 중단점과 함께 염색체 11과 X 사이의 상호 전이의 결과이다.

상호 작용

SEPT6은 ^[8]^[9]SEPT2와 상호작용하는 것으로 나타났다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000125354 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000050379 - 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.
^ Nagase T, Seki N, Tanaka A, Ishikawa K, Nomura N (August 1995). "Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1". DNA Research. 2 (4): 167–74, 199–210. doi:10.1093/dnares/2.4.167. PMID 8590280.
^ Xue J, Wang X, Malladi CS, Kinoshita M, Milburn PJ, Lengyel I, Rostas JA, Robinson PJ (April 2000). "Phosphorylation of a new brain-specific septin, G-septin, by cGMP-dependent protein kinase". The Journal of Biological Chemistry. 275 (14): 10047–56. doi:10.1074/jbc.275.14.10047. PMID 10744683.
^ ^a ^b ^c "Entrez Gene: SEPT6 septin 6".
^ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
^ Surka MC, Tsang CW, Trimble WS (October 2002). "The mammalian septin MSF localizes with microtubules and is required for completion of cytokinesis". Molecular Biology of the Cell. 13 (10): 3532–45. doi:10.1091/mbc.E02-01-0042. PMC 129964. PMID 12388755.

추가 정보

Kinoshita A, Noda M, Kinoshita M (December 2000). "Differential localization of septins in the mouse brain". The Journal of Comparative Neurology. 428 (2): 223–39. doi:10.1002/1096-9861(20001211)428:2<223::AID-CNE3>3.0.CO;2-M. PMID 11064363.
Ono R, Taki T, Taketani T, Kawaguchi H, Taniwaki M, Okamura T, Kawa K, Hanada R, Kobayashi M, Hayashi Y (January 2002). "SEPTIN6, a human homologue to mouse Septin6, is fused to MLL in infant acute myeloid leukemia with complex chromosomal abnormalities involving 11q23 and Xq24". Cancer Research. 62 (2): 333–7. PMID 11809673.
Slater DJ, Hilgenfeld E, Rappaport EF, Shah N, Meek RG, Williams WR, Lovett BD, Osheroff N, Autar RS, Ried T, Felix CA (July 2002). "MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11) in infant acute myeloid leukaemia, and MLL genomic breakpoint in complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase II cleavage site". Oncogene. 21 (30): 4706–14. doi:10.1038/sj.onc.1205572. PMID 12096348.
Surka MC, Tsang CW, Trimble WS (October 2002). "The mammalian septin MSF localizes with microtubules and is required for completion of cytokinesis". Molecular Biology of the Cell. 13 (10): 3532–45. doi:10.1091/mbc.E02-01-0042. PMC 129964. PMID 12388755.
Sheffield PJ, Oliver CJ, Kremer BE, Sheng S, Shao Z, Macara IG (January 2003). "Borg/septin interactions and the assembly of mammalian septin heterodimers, trimers, and filaments". The Journal of Biological Chemistry. 278 (5): 3483–8. doi:10.1074/jbc.M209701200. PMID 12446710.
Vega IE, Hsu SC (January 2003). "The septin protein Nedd5 associates with both the exocyst complex and microtubules and disruption of its GTPase activity promotes aberrant neurite sprouting in PC12 cells". NeuroReport. 14 (1): 31–7. doi:10.1097/00001756-200301200-00006. PMID 12544826.
Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J (May 2003). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nature Biotechnology. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801.
Koshelev YA, Kiselev SL, Georgiev GP (2004). "Interaction of the S100A4 (Mts1) protein with septins Sept2, Sept6, and Sept7 in vitro". Doklady Biochemistry and Biophysics. 391: 195–7. doi:10.1023/A:1025149005902. PMID 14531065.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Kadkol SS, Bruno A, Oh S, Schmidt ML, Lindgren V (July 2006). "MLL-SEPT6 fusion transcript with a novel sequence in an infant with acute myeloid leukemia". Cancer Genetics and Cytogenetics. 168 (2): 162–7. doi:10.1016/j.cancergencyto.2006.02.020. PMID 16843108.
Low C, Macara IG (October 2006). "Structural analysis of septin 2, 6, and 7 complexes". The Journal of Biological Chemistry. 281 (41): 30697–706. doi:10.1074/jbc.M605179200. PMID 16914550.
Kim CS, Seol SK, Song OK, Park JH, Jang SK (April 2007). "An RNA-binding protein, hnRNP A1, and a scaffold protein, septin 6, facilitate hepatitis C virus replication". Journal of Virology. 81 (8): 3852–65. doi:10.1128/JVI.01311-06. PMC 1866118. PMID 17229681.
Sirajuddin M, Farkasovsky M, Hauer F, Kühlmann D, Macara IG, Weyand M, Stark H, Wittinghofer A (September 2007). "Structural insight into filament formation by mammalian septins". Nature. 449 (7160): 311–5. doi:10.1038/nature06052. PMID 17637674.
Kremer BE, Adang LA, Macara IG (September 2007). "Septins regulate actin organization and cell-cycle arrest through nuclear accumulation of NCK mediated by SOCS7". Cell. 130 (5): 837–50. doi:10.1016/j.cell.2007.06.053. PMC 2085444. PMID 17803907.

인간 X 염색체 및/또는 그와 관련된 단백질의 유전자에 대한 이 기사는 스텁이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000125354 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000050379 - 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.

[pmid8590280-5] Nagase T, Seki N, Tanaka A, Ishikawa K, Nomura N (August 1995). "Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1". DNA Research. 2 (4): 167–74, 199–210. doi:10.1093/dnares/2.4.167. PMID 8590280.

[pmid10744683-6] Xue J, Wang X, Malladi CS, Kinoshita M, Milburn PJ, Lengyel I, Rostas JA, Robinson PJ (April 2000). "Phosphorylation of a new brain-specific septin, G-septin, by cGMP-dependent protein kinase". The Journal of Biological Chemistry. 275 (14): 10047–56. doi:10.1074/jbc.275.14.10047. PMID 10744683.

[entrez-7] "Entrez Gene: SEPT6 septin 6".

[pmid16189514-8] Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.

[pmid12388755-9] Surka MC, Tsang CW, Trimble WS (October 2002). "The mammalian septin MSF localizes with microtubules and is required for completion of cytokinesis". Molecular Biology of the Cell. 13 (10): 3532–45. doi:10.1091/mbc.E02-01-0042. PMC 129964. PMID 12388755.

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Search

SEPT6

네임스페이스

더

목차

기능.

임상적 의의

상호 작용

레퍼런스

추가 정보