알파 골격근 액틴

ACTA1
사용 가능한 구조
PDB	동원체 검색: PDBe RCSB
PDB ID 코드 목록
	1T44
식별자
다른 이름	ACTA1, ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3, Actin, alpha 1, SHPM, actin, alpha 1, skeletal muscle, actin alpha 1, skeletal muscle
외부 ID	OMIM: 102610 MGI: 87902 HomoloGene: 121702 GeneCards: ACTA1
유전자 위치 (인간)
염색체	1번 염색체
끝	229,434,104 bp
유전자 위치 (쥐)
염색체	8번 염색체 (쥐)
끝	124,621,490 bp
RNA 발현 패턴
	최상위 발현
	Skeletal muscle tissue of biceps brachii; ; 볼기근; ; 위팔세갈래근; ; Skeletal muscle tissue of rectus abdominis; ; 가로막; ; 앞정강근; ; muscle of thigh; ; 비복근; ; body of tongue; ; 삼각근;
	최상위 발현
	발목; ; 가자미근; ; 장딴지빗근; ; medial head of gastrocnemius muscle; ; 늑간근; ; muscle of thigh; ; 넙다리뼈몸통; ; 턱두힘살근; ; 관자근; ; 가쪽넓은근;
	추가 참조 발현 데이터
	추가 참조 발현 데이터
유전자 온톨로지
분자 함수	nucleotide binding; myosin binding; ADP binding; structural constituent of cytoskeleton; 단백질 결합; ATP binding;
세포 성분	세포질; cell body; 세포액; blood microparticle; filopodium; 근섬유분절; striated muscle thin filament; stress fiber; 세포외액; 미세섬유; actin cytoskeleton; 엑소좀; 세포골격; lamellipodium;
생물학적 과정	근수축; response to steroid hormone; skeletal muscle fiber adaptation; response to mechanical stimulus; skeletal muscle thin filament assembly; response to lithium ion; 세포 생장; positive regulation of gene expression; muscle filament sliding; mesenchyme migration; response to extracellular stimulus; skeletal muscle fiber development;
	출처: Amigo / QuickGO
동원체
	58
	11459
	ENSG00000143632
	ENSMUSG00000031972
	P68133
	P68134
	NM_001100
	NM_001272041; NM_009606
	NP_001091
	NP_001258970; NP_033736
	위키데이터
인간 보기/편집	쥐 보기/편집

알파 골격근 액틴(actin, alpha skeletal muscle)은 인간에서 ACTA1 유전자에 의해 암호화되는 단백질이다.^[5]^[6]

간략 정보 ACTA1, 사용 가능한 구조 ...

닫기

골격근에서 발현되는 액틴 알파 1은 확인된 6가지 서로 다른 액틴 동형 중 하나이다. 액틴은 세포 운동성, 구조, 완전성에 관여하는 고도로 보존된 단백질이다. 알파 액틴은 수축체(contractile apparatus)의 주요 구성 요소이다.^[7]

알파 골격근 액틴 발현은 근육 형성을 유발하는 것으로 알려진 자극과 조건에 의해 유도된다.^[8] 이러한 조건에서 수임된 세포(committed cell, 또는 위성 세포, satellite cell)가 근관세포로 융합되어 근섬유를 형성한다. 골격근 액틴 자체는 발현될 때 근육 형성에 필수적인 몇 가지 근원성 유전자(myogenic genes)의 발현을 유발한다.^[9] 골격근 액틴 유전자 발현을 활성화시키는 하나의 주요 전사인자는 액틴 유전자의 프로모터 DNA 상의 특정 부위에 결합하는 단백질인 혈청 반응 인자(SRF)이다.^[10] SRF는 안드로겐 수용체와 같은 골격근 액틴의 프로모터에 많은 다른 단백질을 가져와 단백동화 스테로이드(안드로겐성 스테로이드)에 의한 골격근 액틴 유전자 발현 유도에 기여할 수 있다.^[11]

ACTA1은 TMSB4X,^[12]^[13] MIB2,^[14] PRKCE^[15]와 상호 작용하는 것으로 나타났다.

액틴
베타 액틴

[1]
GRCh38: Ensembl release 89: ENSG00000143632 - 앙상블, May 2017
[2]
GRCm38: Ensembl release 89: ENSMUSG00000031972 - 앙상블, May 2017
[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》.
[5]
“Assignment of the human skeletal muscle [FC12]a-actin gene (ACTA1) to chromosome 1q42.13-->q42.2 by radiation hybrid mapping”. 《Cytogenetics and Cell Genetics》 83 (3–4): 224–5. March 1999. doi:10.1159/000015184. PMID 10072583.
[6]
“Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed”. 《Molecular and Cellular Biology》 3 (5): 787–95. May 1983. doi:10.1128/mcb.3.5.787. PMC 368601. PMID 6865942.
[7]
“Entrez Gene: ACTA1 actin, alpha 1, skeletal muscle”.
[8]
“Contractile protein isoforms in muscle development”. 《Developmental Biology》 154 (2): 273–83. December 1992. doi:10.1016/0012-1606(92)90067-Q. PMID 1358730.
[9]
“Alpha-skeletal actin induces a subset of muscle genes independently of muscle differentiation and withdrawal from the cell cycle”. 《Journal of Cell Science》 114 (Pt 3): 513–24. February 2001. doi:10.1242/jcs.114.3.513. PMID 11171321.
[10]
“Dominant negative murine serum response factor: alternative splicing within the activation domain inhibits transactivation of serum response factor binding targets”. 《Molecular and Cellular Biology》 19 (7): 4582–91. July 1999. doi:10.1128/mcb.19.7.4582. PMC 84256. PMID 10373507.
[11]
“Recruitment of the androgen receptor via serum response factor facilitates expression of a myogenic gene”. 《The Journal of Biological Chemistry》 280 (9): 7786–92. March 2005. doi:10.1074/jbc.M413992200. PMID 15623502.
[12]
“Polymerisation of chemically cross-linked actin:thymosin beta(4) complex to filamentous actin: alteration in helical parameters and visualisation of thymosin beta(4) binding on F-actin”. 《Journal of Molecular Biology》 315 (4): 613–25. January 2002. doi:10.1006/jmbi.2001.5281. PMID 11812134.
[13]
“Thymosin beta 4 binds actin in an extended conformation and contacts both the barbed and pointed ends”. 《Biochemistry》 36 (19): 5806–16. May 1997. doi:10.1021/bi970185v. PMID 9153421.
[14]
“Down-regulation of a novel actin-binding molecule, skeletrophin, in malignant melanoma”. 《The American Journal of Pathology》 163 (4): 1395–404. October 2003. doi:10.1016/S0002-9440(10)63497-9. PMC 1868282. PMID 14507647.
[15]
“PKC epsilon is associated with myosin IIA and actin in fibroblasts”. 《Cellular Signalling》 14 (6): 529–36. June 2002. doi:10.1016/S0898-6568(01)00277-7. PMID 11897493.

“The cleavage of host cell proteins by HIV-1 protease”. 《Folia Biologica》 42 (5): 227–30. 1997. doi:10.1007/BF02818986. PMID 8997639.
“Eps8 in the midst of GTPases”. 《The International Journal of Biochemistry & Cell Biology》 34 (10): 1178–83. October 2002. doi:10.1016/S1357-2725(02)00064-X. PMID 12127568.
“Interaction of adenylosuccinate synthetase with F-actin”. 《European Journal of Biochemistry》 85 (2): 331–7. April 1978. doi:10.1111/j.1432-1033.1978.tb12243.x. PMID 648524.
“The EGF receptor is an actin-binding protein”. 《The Journal of Cell Biology》 119 (2): 349–55. October 1992. doi:10.1083/jcb.119.2.349. PMC 2289650. PMID 1383230.
“HIV-1 protease cleaves actin during acute infection of human T-lymphocytes”. 《AIDS Research and Human Retroviruses》 8 (2): 291–5. February 1992. doi:10.1089/aid.1992.8.291. PMID 1540415.
“Binding sites involved in the interaction of actin with the N-terminal region of dystrophin”. 《FEBS Letters》 298 (1): 44–8. February 1992. doi:10.1016/0014-5793(92)80019-D. PMID 1544421.
“Epidermal growth factor induces rapid reorganization of the actin microfilament system in human A431 cells”. 《Journal of Cell Science》. 100 ( Pt 3) (3): 491–9. November 1991. doi:10.1242/jcs.100.3.491. PMID 1808202.
“Actin, troponin C, Alzheimer amyloid precursor protein and pro-interleukin 1 beta as substrates of the protease from human immunodeficiency virus”. 《The Journal of Biological Chemistry》 266 (22): 14548–53. August 1991. doi:10.1016/S0021-9258(18)98721-1. PMID 1907279.
“Non-viral cellular substrates for human immunodeficiency virus type 1 protease”. 《FEBS Letters》 278 (2): 199–203. January 1991. doi:10.1016/0014-5793(91)80116-K. PMID 1991513.
“Smooth muscle calponin. Inhibition of actomyosin MgATPase and regulation by phosphorylation”. 《The Journal of Biological Chemistry》 265 (17): 10148–55. June 1990. doi:10.1016/S0021-9258(19)38792-7. PMID 2161834.
“Atomic structure of the actin:DNase I complex”. 《Nature》 347 (6288): 37–44. September 1990. Bibcode:1990Natur.347...37K. doi:10.1038/347037a0. PMID 2395459.
“Vascular smooth muscle calponin. A novel troponin T-like protein”. 《Hypertension》 11 (6 Pt 2): 620–6. June 1988. doi:10.1161/01.hyp.11.6.620. PMID 2455687.
“Nucleotide sequence and expression of the human skeletal alpha-actin gene: evolution of functional regulatory domains”. 《Genomics》 3 (4): 323–36. November 1988. doi:10.1016/0888-7543(88)90123-1. PMID 2907503.
“Ultrastructure of the intact skeleton of the human erythrocyte membrane”. 《The Journal of Cell Biology》 102 (3): 997–1006. March 1986. doi:10.1083/jcb.102.3.997. PMC 2114132. PMID 2936753.
“Tropomyosin distinguishes between the two actin-binding sites of villin and affects actin-binding properties of other brush border proteins”. 《The Journal of Cell Biology》 104 (1): 29–40. January 1987. doi:10.1083/jcb.104.1.29. PMC 2117036. PMID 3793760.
“The human beta-actin multigene family”. 《Transactions of the Association of American Physicians》 98: 42–6. 1986. PMID 3842206.
“Isolation and characterization of cDNA clones for human skeletal muscle alpha actin”. 《Nucleic Acids Research》 11 (11): 3503–16. June 1983. doi:10.1093/nar/11.11.3503. PMC 325982. PMID 6190133.
“Villin is a major protein of the microvillus cytoskeleton which binds both G and F actin in a calcium-dependent manner”. 《Cell》 20 (3): 839–47. July 1980. doi:10.1016/0092-8674(80)90330-X. PMID 6893424.

GeneReviews/NCBI/NIH/UW entry on Nemaline Myopathy
인간 ACTA1 게놈 위치와 ACTA1 유전자의 상세한 설명은 UCSC 게놈 브라우저에 있습니다.

[refGRCh38Ensembl-1] [1]
GRCh38: Ensembl release 89: ENSG00000143632 - 앙상블, May 2017

[refGRCm38Ensembl-2] [2]
GRCm38: Ensembl release 89: ENSMUSG00000031972 - 앙상블, May 2017

[3] [3]
“Human PubMed Reference:”. 《National Center for Biotechnology Information, U.S. National Library of Medicine》.

[4] [4]
“Mouse PubMed Reference:”. 《National Center for Biotechnology Information, U.S. National Library of Medicine》.

[pmid10072583-5] [5]
“Assignment of the human skeletal muscle [FC12]a-actin gene (ACTA1) to chromosome 1q42.13-->q42.2 by radiation hybrid mapping”. 《Cytogenetics and Cell Genetics》 83 (3–4): 224–5. March 1999. doi:10.1159/000015184. PMID 10072583.

[pmid6865942-6] [6]
“Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed”. 《Molecular and Cellular Biology》 3 (5): 787–95. May 1983. doi:10.1128/mcb.3.5.787. PMC 368601. PMID 6865942.

[entrez-7] [7]
“Entrez Gene: ACTA1 actin, alpha 1, skeletal muscle”.

[8] [8]
“Contractile protein isoforms in muscle development”. 《Developmental Biology》 154 (2): 273–83. December 1992. doi:10.1016/0012-1606(92)90067-Q. PMID 1358730.

[9] [9]
“Alpha-skeletal actin induces a subset of muscle genes independently of muscle differentiation and withdrawal from the cell cycle”. 《Journal of Cell Science》 114 (Pt 3): 513–24. February 2001. doi:10.1242/jcs.114.3.513. PMID 11171321.

[10] [10]
“Dominant negative murine serum response factor: alternative splicing within the activation domain inhibits transactivation of serum response factor binding targets”. 《Molecular and Cellular Biology》 19 (7): 4582–91. July 1999. doi:10.1128/mcb.19.7.4582. PMC 84256. PMID 10373507.

[11] [11]
“Recruitment of the androgen receptor via serum response factor facilitates expression of a myogenic gene”. 《The Journal of Biological Chemistry》 280 (9): 7786–92. March 2005. doi:10.1074/jbc.M413992200. PMID 15623502.

[pmid11812134-12] [12]
“Polymerisation of chemically cross-linked actin:thymosin beta(4) complex to filamentous actin: alteration in helical parameters and visualisation of thymosin beta(4) binding on F-actin”. 《Journal of Molecular Biology》 315 (4): 613–25. January 2002. doi:10.1006/jmbi.2001.5281. PMID 11812134.

[pmid9153421-13] [13]
“Thymosin beta 4 binds actin in an extended conformation and contacts both the barbed and pointed ends”. 《Biochemistry》 36 (19): 5806–16. May 1997. doi:10.1021/bi970185v. PMID 9153421.

[pmid14507647-14] [14]
“Down-regulation of a novel actin-binding molecule, skeletrophin, in malignant melanoma”. 《The American Journal of Pathology》 163 (4): 1395–404. October 2003. doi:10.1016/S0002-9440(10)63497-9. PMC 1868282. PMID 14507647.

[pmid11897493-15] [15]
“PKC epsilon is associated with myosin IIA and actin in fibroblasts”. 《Cellular Signalling》 14 (6): 529–36. June 2002. doi:10.1016/S0898-6568(01)00277-7. PMID 11897493.

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[4]

[7]

[8]

[9]

[10]

[11]

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[15]

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알파 골격근 액틴

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골격근 액틴 유전자 발현

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