肌联蛋白

肌联蛋白
已知的結構
PDB	直系同源搜索: PDBe RCSB
PDBID列表
	4UOW、1BPV、1G1C、1NCT、1NCU、1TIT、1TIU、1TKI、1TNM、1TNN、1WAA、1YA5、2A38、2BK8、2F8V、2ILL、2J8H、2J8O、2NZI、2RQ8、2WP3、2WWK、2WWM、2Y9R、3KNB、3LCY、3LPW、3PUC、3Q5O、3QP3、4C4K、4JNW、4O00、4QEG、5BS0
識別號
别名	TTN；, CMD1G, CMH9, CMPD4, EOMFC, HMERF, LGMD2J, MYLK5, TMD, titin, SALMY, LGMDR10
外部ID	OMIM：188840 MGI：98864 HomoloGene：130650 GeneCards：TTN
EC number	2.7.11.1
相關疾病
	hypertrophic cardiomyopathy 9、dilated cardiomyopathy 1G、tibial muscular dystrophy、autosomal recessive limb-girdle muscular dystrophy type 2J、心肌病變、扩张型心肌病、肥厚性梗阻型心肌病、hereditary proximal myopathy with early respiratory failure、early-onset myopathy with fatal cardiomyopathy
基因位置（人类）
染色体	2號染色體
终止	178,830,802 bp
基因位置（小鼠）
染色体	小鼠2号染色体
终止	76,982,547 bp
RNA表达模式
	查阅更多表达数据
基因本體
分子功能	• 轉移酶活性; • 核苷酸結合; • calcium ion binding; • 蛋白激酶活性; • actinin binding; • muscle alpha-actinin binding; • structural molecule activity conferring elasticity; • 金屬離子結合; • telethonin binding; • 蛋白酶結合; • 蛋白質自締合; • actin filament binding; • 蛋白质丝氨酸/苏氨酸激酶活性; • 激酶活性; • 血浆蛋白结合; • 相同蛋白质结合; • 酶结合; • protein tyrosine kinase activity; • structural constituent of muscle; • ATP結合; • protein kinase binding; • calmodulin binding;
細胞組分	• 細胞質; • 细胞质基质; • I band; • striated muscle thin filament; • condensed nuclear chromosome; • 細胞外區域; • Z disc; • muscle myosin complex; • 外排體; • 细胞核; • M band; • 肌节;
生物學過程	• sarcomerogenesis; • 肌肉收缩; • mitotic chromosome condensation; • cardiac muscle contraction; • 磷酸化; • cardiac muscle hypertrophy; • platelet degranulation; • cardiac muscle tissue morphogenesis; • skeletal muscle thin filament assembly; • detection of muscle stretch; • response to calcium ion; • cardiac myofibril assembly; • protein phosphorylation; • muscle filament sliding; • regulation of protein kinase activity; • regulation of catalytic activity; • sarcomere organization; • skeletal muscle myosin thick filament assembly; • striated muscle contraction; • peptidyl-tyrosine phosphorylation; • positive regulation of gene expression; • protein kinase A signaling; • positive regulation of protein secretion;
	Sources:Amigo / QuickGO
直系同源
	7273
	22138
	ENSG00000155657
	ENSMUSG00000051747
	Q8WZ42
	A2ASS6
NM_001256850; NM_001267550; NM_003319; NM_133378; NM_133379;
	NM_133432; NM_133437
	NM_011652; NM_028004
NP_001243779; NP_001254479; NP_003310; NP_596869; NP_596870;
	NP_597676; NP_597681
	NP_035782; NP_082280; NP_001372637
	維基數據
檢視/編輯人類	檢視/編輯小鼠

肌联蛋白（英語：titin，源自古希臘神話中的泰坦，形容其結構的巨大程度^[6]。又稱 connectin），又稱肌巨蛋白，是人体中是由肌联蛋白基因（TTN）编码的蛋白质。^[7]^[8]肌联蛋白是已知最巨大的蛋白质，为肌肉收缩的弹性元件。它由244个结构域以及之间的肽序列连接组成。^[9]这些结构域在蛋白拉伸时去折叠，而在张力去除后重新折叠。^[10]

肌联蛋白是已知最大的蛋白质^[11]，同时肌联蛋白基因也拥有已知的单基因中最多的外显子（363个）。^[12]

肌联蛋白对横纹肌的收缩很重要，它横跨肌节从Z线到M线的区域，同粗肌丝的装配和位置固定有关。在这个基因的突变能引起肌肉疾病，例如肢带型肌营养不良。^[13]

肌联蛋白有已知最长的IUPAC命名（如氧的IUPAC命名是oxygen）有189819个字母长^[14]。

另見编辑

名稱獨特的化學物質列表

参考文献编辑

^ 與肌联蛋白相關的疾病；在維基數據上查看/編輯參考.
^ ^2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000155657 - Ensembl, May 2017
^ ^3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000051747 - Ensembl, May 2017
^ 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.
^ Wang K, McClure J, Tu A. Titin: major myofibrillar components of striated muscle. Proceedings of the National Academy of Sciences of the United States of America. August 1979, 76 (8): 3698–702. Bibcode:1979PNAS...76.3698W. PMC 383900  . PMID 291034. doi:10.1073/pnas.76.8.3698  .
^ Entrez Gene: TTN titin. （原始内容存档于2010-03-07）.
^ Labeit S, Barlow DP, Gautel M, Gibson T, Holt J, Hsieh CL, Francke U, Leonard K, Wardale J, Whiting A. A regular pattern of two types of 100-residue motif in the sequence of titin. Nature. May 1990, 345 (6272): 273–6. PMID 2129545. doi:10.1038/345273a0.
^ Labeit S, Kolmerer B. Titins: giant proteins in charge of muscle ultrastructure and elasticity. Science. October 1995, 270 (5234): 293–6. PMID 7569978. doi:10.1126/science.270.5234.293.
^ Minajeva A, Kulke M, Fernandez JM, Linke WA. Unfolding of titin domains explains the viscoelastic behavior of skeletal myofibrils. Biophys. J. March 2001, 80 (3): 1442–51. PMC 1301335  . PMID 11222304. doi:10.1016/S0006-3495(01)76116-4.
^ Opitz CA, Kulke M, Leake MC, Neagoe C, Hinssen H, Hajjar RJ, Linke WA. Damped elastic recoil of the titin spring in myofibrils of human myocardium. Proc. Natl. Acad. Sci. U.S.A. October 2003, 100 (22): 12688–93. PMC 240679  . PMID 14563922. doi:10.1073/pnas.2133733100.
^ Bang ML, Centner T, Fornoff F, Geach AJ, Gotthardt M, McNabb M, Witt CC, Labeit D, Gregorio CC, Granzier H, Labeit S. The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system. Circ. Res. November 2001, 89 (11): 1065–72. PMID 11717165. doi:10.1161/hh2301.100981.
^ Finsterer J. Klinik und Genetik der Gliedergürteldystrophien. Nervenarzt. December, 75 (12): 1153–66. doi:10.1007/s00115-004-1769-5. 请检查|date=中的日期值 (帮助)
^ Sam Kean, The Disappearing Spoon, Little, Brown: 36, 2011, ISBN 9781446437650

[1] 與肌联蛋白相關的疾病；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-2] 2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000155657 - Ensembl, May 2017

[refGRCm38Ensembl-3] 3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000051747 - Ensembl, May 2017

[4] Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[Wang_1979-6] Wang K, McClure J, Tu A. Titin: major myofibrillar components of striated muscle. Proceedings of the National Academy of Sciences of the United States of America. August 1979, 76 (8): 3698–702. Bibcode:1979PNAS...76.3698W. PMC 383900  . PMID 291034. doi:10.1073/pnas.76.8.3698  .

[Entrez_7273-7] Entrez Gene: TTN titin. （原始内容存档于2010-03-07）.

[pmid2129545-8] Labeit S, Barlow DP, Gautel M, Gibson T, Holt J, Hsieh CL, Francke U, Leonard K, Wardale J, Whiting A. A regular pattern of two types of 100-residue motif in the sequence of titin. Nature. May 1990, 345 (6272): 273–6. PMID 2129545. doi:10.1038/345273a0.

[pmid7569978-9] Labeit S, Kolmerer B. Titins: giant proteins in charge of muscle ultrastructure and elasticity. Science. October 1995, 270 (5234): 293–6. PMID 7569978. doi:10.1126/science.270.5234.293.

[pmid11222304-10] Minajeva A, Kulke M, Fernandez JM, Linke WA. Unfolding of titin domains explains the viscoelastic behavior of skeletal myofibrils. Biophys. J. March 2001, 80 (3): 1442–51. PMC 1301335  . PMID 11222304. doi:10.1016/S0006-3495(01)76116-4.

[pmid14563922-11] Opitz CA, Kulke M, Leake MC, Neagoe C, Hinssen H, Hajjar RJ, Linke WA. Damped elastic recoil of the titin spring in myofibrils of human myocardium. Proc. Natl. Acad. Sci. U.S.A. October 2003, 100 (22): 12688–93. PMC 240679  . PMID 14563922. doi:10.1073/pnas.2133733100.

[pmid11717165-12] Bang ML, Centner T, Fornoff F, Geach AJ, Gotthardt M, McNabb M, Witt CC, Labeit D, Gregorio CC, Granzier H, Labeit S. The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system. Circ. Res. November 2001, 89 (11): 1065–72. PMID 11717165. doi:10.1161/hh2301.100981.

[Gliedergürteldystrophie-13] Finsterer J. Klinik und Genetik der Gliedergürteldystrophien. Nervenarzt. December, 75 (12): 1153–66. doi:10.1007/s00115-004-1769-5. 请检查|date=中的日期值 (帮助)

[14] Sam Kean, The Disappearing Spoon, Little, Brown: 36, 2011, ISBN 9781446437650

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肌联蛋白

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