فیلامین سی

FLNC
ساختارهای موجود
PDB	جستجوی هم‌ساخت‌شناسی: PDBe RCSB
فهرست شناسه‌های PDB
	1V05, 2D7M, 2D7N, 2D7O, 2D7P, 2D7Q, 2K9U, 2NQC, 3V8O, 4MGX
معین‌کننده‌ها
نام‌های دیگر	FLNC, ABP-280, ABP280A, ABPA, ABPL, FLN2, MFM5, MPD4, filamin C, RCM5, CMH26
شناسه‌های بیرونی	OMIM: 102565 MGI: 95557 HomoloGene: 37481 GeneCards: FLNC
موقعیت ژن (موش)
کروموزوم	کروموزوم ۶ (موش)
پایان	29,461,882 bp
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• actin filament binding; • actin binding; • cytoskeletal protein binding; • GO:0001948، GO:0016582 پیوند پروتئینی; • ankyrin binding; • identical protein binding;
ترکیبات سلولی	• Z disc; • سارکولما; • پوسته یاخته; • membrane; • focal adhesion; • سارکوپلاسم; • سیتوپلاسم; • costamere; • اسکلت سلولی; • سیتوزول;
فرایند زیستی	• cell junction assembly;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	2318
	68794
	ENSG00000128591
	ENSMUSG00000068699
	Q14315
	Q8VHX6
	NM_001127487 NM_001458، NM_001127487
	NM_001311074، NM_026839، XM_036152282، XM_036152283 NM_001081185، NM_001311074، NM_026839، XM_036152282، XM_036152283
	NP_001449 NP_001120959، NP_001449
	NP_001298003، XP_036008175، XP_036008176 NP_001074654، NP_001298003، XP_036008175، XP_036008176
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

فیلامین سی (انگلیسی: Filamin-C) یا به اختصار FLNC، که با نام‌های دیگری همچون فیلامین ۲ (FLN2)، پروتئین شبه متصل‌شونده اکتین (ABPL) نیز شناخته می‌شود، یک پروتئین است که در انسان توسط ژن «FLNC» کُدگذاری می‌شود.^[۴]^[۵]^[۶]

فیلامین سی بیشتر در ماهیچه‌های اسکلتی و قلب بیان می‌شود و در نواحی تحتِ سارکولما و صفحهٔ Z عملکرد دارد.

فیلامین سی ۲۹۰٫۸ کیلو دالتون وزن و ۲۷۲۵ اسید آمینه دارد.^[۷]^[۸]

اهمیت بالینی[ویرایش]

جهش در ژن «FLNC» با بروز «کاردیومیوپاتی هایپرتروفیک» و «کاردیومیوپاتی محدودکننده»^[۹] و احتمال بالاتری از ایست قلبی^[۱۰] در ارتباط است. کمبود پروتئین فیلامین سی همچنین با بروز ضعف عضلانی مرتبط است.

منابع[ویرایش]

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000068699 - 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.
↑ Maestrini E, Patrosso C, Mancini M, Rivella S, Rocchi M, Repetto M, Villa A, Frattini A, Zoppè M, Vezzoni P (June 1993). "Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7". Human Molecular Genetics. 2 (6): 761–6. doi:10.1093/hmg/2.6.761. PMID 7689010.
↑ Gariboldi M, Maestrini E, Canzian F, Manenti G, De Gregorio L, Rivella S, Chatterjee A, Herman GE, Archidiacono N, Antonacci R (May 1994). "Comparative mapping of the actin-binding protein 280 genes in human and mouse". Genomics. 21 (2): 428–30. doi:10.1006/geno.1994.1288. PMID 8088838.
↑ "Entrez Gene: FLNC filamin C, gamma (actin binding protein 280)".
↑ "Protein information". © COPaKB. Archived from the original on 4 March 2016. Retrieved 24 August 2019.
↑ Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
↑ Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J, Gerull B, FORGE Canada Consortium (2016). "Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy". Human Mutation. 37 (3): 269–79. doi:10.1002/humu.22942. PMID 26666891.
↑ Valdés-Mas R, Gutiérrez-Fernández A, Gómez J, Coto E, Astudillo A, Puente DA, Reguero JR, Álvarez V, Morís C, León D, Martín M, Puente XS, López-Otín C (October 2014). "Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy". Nature Communications. 5: 5326. doi:10.1038/ncomms6326. PMID 25351925.

مشارکت‌کنندگان ویکی‌پدیا. «FLNC (gene)». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۲۴ اوت ۲۰۱۹.

برای مطالعهٔ بیشتر[ویرایش]

Stossel TP, Condeelis J, Cooley L, Hartwig JH, Noegel A, Schleicher M, Shapiro SS (February 2001). "Filamins as integrators of cell mechanics and signalling". Nature Reviews. Molecular Cell Biology. 2 (2): 138–45. doi:10.1038/35052082. PMID 11252955.
Lanfranchi G, Muraro T, Caldara F, Pacchioni B, Pallavicini A, Pandolfo D, Toppo S, Trevisan S, Scarso S, Valle G (January 1996). "Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization". Genome Research. 6 (1): 35–42. doi:10.1101/gr.6.1.35. PMID 8681137.
Marti A, Luo Z, Cunningham C, Ohta Y, Hartwig J, Stossel TP, Kyriakis JM, Avruch J (January 1997). "Actin-binding protein-280 binds the stress-activated protein kinase (SAPK) activator SEK-1 and is required for tumor necrosis factor-alpha activation of SAPK in melanoma cells". The Journal of Biological Chemistry. 272 (5): 2620–8. doi:10.1074/jbc.272.5.2620. PMID 9006895.
Liu G, Thomas L, Warren RA, Enns CA, Cunningham CC, Hartwig JH, Thomas G (December 1997). "Cytoskeletal protein ABP-280 directs the intracellular trafficking of furin and modulates proprotein processing in the endocytic pathway". The Journal of Cell Biology. 139 (7): 1719–33. doi:10.1083/jcb.139.7.1719. PMC 1424222. PMID 9412467.
Xu W, Xie Z, Chung DW, Davie EW (August 1998). "A novel human actin-binding protein homologue that binds to platelet glycoprotein Ibalpha". Blood. 92 (4): 1268–76. PMID 9694715.
Xie Z, Xu W, Davie EW, Chung DW (October 1998). "Molecular cloning of human ABPL, an actin-binding protein homologue". Biochemical and Biophysical Research Communications. 251 (3): 914–9. doi:10.1006/bbrc.1998.9506. PMID 9791010.
Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM (January 2000). "Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein". The Journal of Cell Biology. 148 (1): 115–26. doi:10.1083/jcb.148.1.115. PMC 3207142. PMID 10629222.
van der Ven PF, Obermann WM, Lemke B, Gautel M, Weber K, Fürst DO (February 2000). "Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation". Cell Motility and the Cytoskeleton. 45 (2): 149–62. doi:10.1002/(SICI)1097-0169(200002)45:2<149::AID-CM6>3.0.CO;2-G. PMID 10658210.
Faulkner G, Pallavicini A, Comelli A, Salamon M, Bortoletto G, Ievolella C, Trevisan S, Kojic' S, Dalla Vecchia F, Laveder P, Valle G, Lanfranchi G (December 2000). "FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle". The Journal of Biological Chemistry. 275 (52): 41234–42. doi:10.1074/jbc.M007493200. PMID 10984498.
van der Ven PF, Wiesner S, Salmikangas P, Auerbach D, Himmel M, Kempa S, Hayess K, Pacholsky D, Taivainen A, Schröder R, Carpén O, Fürst DO (October 2000). "Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin". The Journal of Cell Biology. 151 (2): 235–48. doi:10.1083/jcb.151.2.235. PMC 2192634. PMID 11038172.
Petrecca K, Miller DM, Shrier A (December 2000). "Localization and enhanced current density of the Kv4.2 potassium channel by interaction with the actin-binding protein filamin". The Journal of Neuroscience. 20 (23): 8736–44. doi:10.1523/JNEUROSCI.20-23-08736.2000. PMID 11102480.
Chakarova C, Wehnert MS, Uhl K, Sakthivel S, Vosberg HP, van der Ven PF, Fürst DO (December 2000). "Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family". Human Genetics. 107 (6): 597–611. doi:10.1007/s004390000414. PMID 11153914.
Takada F, Vander Woude DL, Tong HQ, Thompson TG, Watkins SC, Kunkel LM, Beggs AH (February 2001). "Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines". Proceedings of the National Academy of Sciences of the United States of America. 98 (4): 1595–600. doi:10.1073/pnas.041609698. PMC 29302. PMID 11171996.
Dyson JM, O'Malley CJ, Becanovic J, Munday AD, Berndt MC, Coghill ID, Nandurkar HH, Ooms LM, Mitchell CA (December 2001). "The SH2-containing inositol polyphosphate 5-phosphatase, SHIP-2, binds filamin and regulates submembraneous actin". The Journal of Cell Biology. 155 (6): 1065–79. doi:10.1083/jcb.200104005. PMC 2150887. PMID 11739414.
Frey N, Olson EN (April 2002). "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins". The Journal of Biological Chemistry. 277 (16): 13998–4004. doi:10.1074/jbc.M200712200. PMID 11842093.
Donaldson JC, Dise RS, Ritchie MD, Hanks SK (August 2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". The Journal of Biological Chemistry. 277 (32): 29028–35. doi:10.1074/jbc.M111697200. PMID 12006559.
Shoeman RL, Hartig R, Hauses C, Traub P (2003). "Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease". Cell Biology International. 26 (6): 529–39. doi:10.1006/cbir.2002.0895. PMID 12119179.

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000068699 - Ensembl, May 2017

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

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

[pmid_7689010-4] Maestrini E, Patrosso C, Mancini M, Rivella S, Rocchi M, Repetto M, Villa A, Frattini A, Zoppè M, Vezzoni P (June 1993). "Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7". Human Molecular Genetics. 2 (6): 761–6. doi:10.1093/hmg/2.6.761. PMID 7689010.

[pmid_8088838-5] Gariboldi M, Maestrini E, Canzian F, Manenti G, De Gregorio L, Rivella S, Chatterjee A, Herman GE, Archidiacono N, Antonacci R (May 1994). "Comparative mapping of the actin-binding protein 280 genes in human and mouse". Genomics. 21 (2): 428–30. doi:10.1006/geno.1994.1288. PMID 8088838.

[entrez-6] "Entrez Gene: FLNC filamin C, gamma (actin binding protein 280)".

[7] "Protein information". © COPaKB. Archived from the original on 4 March 2016. Retrieved 24 August 2019.

[cite_PMID_|_23965338-8] Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.

[pmid_26666891-9] Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J, Gerull B, FORGE Canada Consortium (2016). "Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy". Human Mutation. 37 (3): 269–79. doi:10.1002/humu.22942. PMID 26666891.

[pmid_25351925-10] Valdés-Mas R, Gutiérrez-Fernández A, Gómez J, Coto E, Astudillo A, Puente DA, Reguero JR, Álvarez V, Morís C, León D, Martín M, Puente XS, López-Otín C (October 2014). "Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy". Nature Communications. 5: 5326. doi:10.1038/ncomms6326. PMID 25351925.

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