ACTL6A

ACTL6A
식별자
에일리어스	ACTL6A, ACTL6, ARPN-BETA, Arp4, BAF53A, INO80K, 6A와 같은 액틴, SMARCN1
외부 ID	OMIM : 604958 MGI : 1861453 HomoloGene : 55811 GenCard : ACTL6A
유전자 위치(인간)
크르.	3번 염색체(인간)
끝.	179,588,407 bp
유전자 위치(마우스)
크르.	3번 염색체(마우스)
끝.	32,781,194 bp
RNA발현패턴
	상단 표시 위치:
	아킬레스건; ; 신경절 융기; ; 난모세포; ; 이차 난모세포; ; 직장; ; 랑게르한스 섬; ; 정자; ; 췌장체; ; 단구; ; 복부 피부;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	GO:0000980 RNA중합효소II 시스조절영역배열특이적 DNA결합; GO:0001105 트랜스크립션코액티베이터 액티비티; 크로마틴 결합; GO:0001948 단백질 결합; 뉴클레오좀DNA결합;
셀룰러 컴포넌트	SWI/SNF 콤플렉스; Ino80 콤플렉스; NuA4히스톤아세틸전달효소복합체; 혈장막; 핵소체; npBAF 착화체; 핵; 단백질 함유 복합체;
생물학적 과정	염색질 리모델링; DNA재조합; 전사조절, DNA템플릿화; 미토콘드리아를 대상으로 하는 단백질의 양성 조절; RNA중합효소II에 의한 전사조절; 히스톤 H2A 아세틸화; 전사, DNA 템플릿; 신경계의 발달; DNA 손상 자극에 대한 세포 반응; 미토콘드리아의 자가 형성 조절; 척수 발달; 히스톤H4 아세틸화; 생장 조절; DNA복구; 신경망막발달; 신호 변환; 단백질탈유비퀴티네이션; 배반포 형성; 크로마틴 조직; 핵산 촉진 전사의 양성 조절;
	출처:아미고 / QuickGO
맞춤법
	86
	56456
	ENSG00000136518
	ENSMUSG000027671
	O96019
	Q9Z2N8
	NM_178042; NM_004301; NM_177989
	NM_019673
	NP_004292; NP_817126; NP_829888
	NP_062647
	위키데이터
인간 보기/편집	마우스 표시/편집

액틴유사단백질 6A는 ACTL6A ^[5]^[6]^[7]유전자에 의해 인체 내에서 코드되는 단백질이다.

기능.

이 유전자는 기존의 액틴과 유의한 아미노산 배열 정체성을 공유하는 액틴 관련 단백질(ARPs)의 패밀리를 암호화한다.액틴과 ARP는 모두 ATP 결합 균열인 액틴 폴드를 공통 특징으로 가지고 있다.ARP는 소포 운반, 방추 방향, 핵 이동 및 염색질 리모델링을 포함한 다양한 세포 과정에 관여합니다.이 유전자는 포유류의 BAF(BRG1/brm 관련 인자) 복합체의 53kDa 서브유닛 단백질을 코드하며, 이는 기능적으로 S. cerevisiae 및 Drosophila의 SUI/SNF 복합체와 관련이 있으며, 후자는 염색질 전사 억제 억제 억제 작용으로 특이 유전자의 전사 활성화를 촉진하는 것으로 생각된다.베타액틴과 함께 BRG1의 최대 ATP효소 활성 및 염색질/매트릭스와의 BAF 복합체 연관성에 필요하다.두 개의 다른 단백질 아이소폼을 코드하는 세 개의 전사 변이가 ^[7]설명되었습니다.

임상적 의의

ACTL6A는 두부암과 편평상피암에서 증폭되며 환자의 ^[8]예후가 좋지 않다.간세포암에서는 ^[9]전이를 촉진한다.

상호 작용

ACTL6A는 SMARCA2,^[10]^[11]^[12] Myc,^[11] Transformation/transcription 도메인 관련 단백질, ^[11]RuvB-like^[11] ^[5]^[10]1 및 SMARCA4와 상호작용하는 것으로 나타났다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000136518 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000027671 - 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 Zhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A, Crabtree GR (December 1998). "Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling". Cell. 95 (5): 625–36. doi:10.1016/S0092-8674(00)81633-5. PMID 9845365. S2CID 3184211.
^ Harata M, Mochizuki R, Mizuno S (July 1999). "Two isoforms of a human actin-related protein show nuclear localization and mutually selective expression between brain and other tissues". Biosci Biotechnol Biochem. 63 (5): 917–23. doi:10.1271/bbb.63.917. PMID 10380635.
^ ^a ^b "Entrez Gene: ACTL6A actin-like 6A".
^ Saladi SV, Ross K, Karaayvaz M, Tata PR, Mou H, Rajagopal J, Ramaswamy S, Ellisen LW (2017). "ACTL6A Is Co-Amplified with p63 in Squamous Cell Carcinoma to Drive YAP Activation, Regenerative Proliferation, and Poor Prognosis". Cancer Cell. 31 (1): 35–49. doi:10.1016/j.ccell.2016.12.001. PMC 5225026. PMID 28041841.
^ Xiao S, Chang RM, Yang MY, Lei X, Liu X, Gao WB, Xiao JL, Yang LY (2016). "Actin-like 6A predicts poor prognosis of hepatocellular carcinoma and promotes metastasis and epithelial-mesenchymal transition". Hepatology. 63 (4): 1256–71. doi:10.1002/hep.28417. PMC 4834727. PMID 26698646.
^ ^a ^b Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC 452280. PMID 8895581.
^ ^a ^b ^c ^d Park J, Wood MA, Cole MD (March 2002). "BAF53 forms distinct nuclear complexes and functions as a critical c-Myc-interacting nuclear cofactor for oncogenic transformation". Mol. Cell. Biol. 22 (5): 1307–16. doi:10.1128/MCB.22.5.1307-1316.2002. PMC 134713. PMID 11839798.
^ Kuroda Y, Oma Y, Nishimori K, Ohta T, Harata M (November 2002). "Brain-specific expression of the nuclear actin-related protein ArpNalpha and its involvement in mammalian SWI/SNF chromatin remodeling complex". Biochem. Biophys. Res. Commun. 299 (2): 328–34. doi:10.1016/S0006-291X(02)02637-2. PMID 12437990.

추가 정보

Schafer DA, Schroer TA (2000). "Actin-related proteins". Annu. Rev. Cell Dev. Biol. 15: 341–63. doi:10.1146/annurev.cellbio.15.1.341. PMID 10611965.
Doyon Y, Côté J (2004). "The highly conserved and multifunctional NuA4 HAT complex". Curr. Opin. Genet. Dev. 14 (2): 147–54. doi:10.1016/j.gde.2004.02.009. PMID 15196461.
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.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (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.
Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (1998). "A human RNA polymerase II complex containing factors that modify chromatin structure". Mol. Cell. Biol. 18 (9): 5355–63. doi:10.1128/MCB.18.9.5355. PMC 109120. PMID 9710619.
Phelan ML, Sif S, Narlikar GJ, Kingston RE (1999). "Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits". Mol. Cell. 3 (2): 247–53. doi:10.1016/S1097-2765(00)80315-9. PMID 10078207.
Ikura T, Ogryzko VV, Grigoriev M, Groisman R, Wang J, Horikoshi M, Scully R, Qin J, Nakatani Y (2000). "Involvement of the TIP60 histone acetylase complex in DNA repair and apoptosis". Cell. 102 (4): 463–73. doi:10.1016/S0092-8674(00)00051-9. PMID 10966108. S2CID 18047169.
Xue Y, Canman JC, Lee CS, Nie Z, Yang D, Moreno GT, Young MK, Salmon ED, Wang W (2001). "The human SWI/SNF-B chromatin-remodeling complex is related to yeast rsc and localizes at kinetochores of mitotic chromosomes". Proc. Natl. Acad. Sci. U.S.A. 97 (24): 13015–20. doi:10.1073/pnas.240208597. PMC 27170. PMID 11078522.
Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (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, Pepperkok R, Wiemann S (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.
Sung YH, Choi EY, Kwon H (2001). "Identification of a nuclear protein ArpN as a component of human SWI/SNF complex and its selective association with a subset of active genes". Mol. Cells. 11 (1): 75–81. PMID 11266125.
Lai CH, Chiu JY, Lin W (2001). "Identification of the human crooked neck gene by comparative gene identification". Biochim. Biophys. Acta. 1517 (3): 449–54. doi:10.1016/s0167-4781(00)00295-5. PMID 11342225.
Fuchs M, Gerber J, Drapkin R, Sif S, Ikura T, Ogryzko V, Lane WS, Nakatani Y, Livingston DM (2001). "The p400 complex is an essential E1A transformation target". Cell. 106 (3): 297–307. doi:10.1016/S0092-8674(01)00450-0. PMID 11509179. S2CID 15634637.
Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, Ohtsuki Y, Sugano S, de Bruijn DR, Chait BT, Roeder RG (2002). "SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones". J. Biol. Chem. 277 (7): 5498–505. doi:10.1074/jbc.M108702200. PMID 11734557.
Park J, Wood MA, Cole MD (2002). "BAF53 forms distinct nuclear complexes and functions as a critical c-Myc-interacting nuclear cofactor for oncogenic transformation". Mol. Cell. Biol. 22 (5): 1307–16. doi:10.1128/MCB.22.5.1307-1316.2002. PMC 134713. PMID 11839798.
Ohfuchi E, Nishimori K, Harata M (2003). "Alternative splicing products of the gene for a human nuclear actin-related protein, hArpNbeta/Baf53, that encode a protein isoform, hArpNbetaS, in the cytoplasm". Biosci. Biotechnol. Biochem. 66 (8): 1740–3. doi:10.1271/bbb.66.1740. PMID 12353638. S2CID 35246242.
Kuroda Y, Oma Y, Nishimori K, Ohta T, Harata M (2003). "Brain-specific expression of the nuclear actin-related protein ArpNalpha and its involvement in mammalian SWI/SNF chromatin remodeling complex". Biochem. Biophys. Res. Commun. 299 (2): 328–34. doi:10.1016/S0006-291X(02)02637-2. PMID 12437990.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000136518 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000027671 - 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.

[pmid9845365-5] Zhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A, Crabtree GR (December 1998). "Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling". Cell. 95 (5): 625–36. doi:10.1016/S0092-8674(00)81633-5. PMID 9845365. S2CID 3184211.

[pmid10380635-6] Harata M, Mochizuki R, Mizuno S (July 1999). "Two isoforms of a human actin-related protein show nuclear localization and mutually selective expression between brain and other tissues". Biosci Biotechnol Biochem. 63 (5): 917–23. doi:10.1271/bbb.63.917. PMID 10380635.

[entrez-7] "Entrez Gene: ACTL6A actin-like 6A".

[pmid28041841-8] Saladi SV, Ross K, Karaayvaz M, Tata PR, Mou H, Rajagopal J, Ramaswamy S, Ellisen LW (2017). "ACTL6A Is Co-Amplified with p63 in Squamous Cell Carcinoma to Drive YAP Activation, Regenerative Proliferation, and Poor Prognosis". Cancer Cell. 31 (1): 35–49. doi:10.1016/j.ccell.2016.12.001. PMC 5225026. PMID 28041841.

[pmid26698646-9] Xiao S, Chang RM, Yang MY, Lei X, Liu X, Gao WB, Xiao JL, Yang LY (2016). "Actin-like 6A predicts poor prognosis of hepatocellular carcinoma and promotes metastasis and epithelial-mesenchymal transition". Hepatology. 63 (4): 1256–71. doi:10.1002/hep.28417. PMC 4834727. PMID 26698646.

[pmid8895581-10] Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC 452280. PMID 8895581.

[pmid11839798-11] Park J, Wood MA, Cole MD (March 2002). "BAF53 forms distinct nuclear complexes and functions as a critical c-Myc-interacting nuclear cofactor for oncogenic transformation". Mol. Cell. Biol. 22 (5): 1307–16. doi:10.1128/MCB.22.5.1307-1316.2002. PMC 134713. PMID 11839798.

[pmid12437990-12] Kuroda Y, Oma Y, Nishimori K, Ohta T, Harata M (November 2002). "Brain-specific expression of the nuclear actin-related protein ArpNalpha and its involvement in mammalian SWI/SNF chromatin remodeling complex". Biochem. Biophys. Res. Commun. 299 (2): 328–34. doi:10.1016/S0006-291X(02)02637-2. PMID 12437990.

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ACTL6A

네임스페이스

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목차

기능.

임상적 의의

상호 작용

레퍼런스

추가 정보