فیلامین سی

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.[4][5][6]

FLNC
ساختارهای موجود PDB Ortholog search: PDBe RCSB List of PDB id codes 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
Gene location (Mouse) Chr. Chromosome 6 (mouse)[1] Band 6 A3.3|6 12.36 cM Start 29,433,256 bp[1] End 29,461,883 bp[1]
الگوی گسترش RNA More reference expression data
هستی‌شناسی ژن عملکرد ملکولی • actin filament binding • actin binding • cytoskeletal protein binding • GO:0001948 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 Sources:آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
گونه‌ها	انسان	موش
Entrez	2318	68794
آنسامبل	ENSG00000128591	ENSMUSG00000068699
یونی‌پروت	Q14315	Q8VHX6
RefSeq (mRNA)	NM_001127487 NM_001458، NM_001127487	NM_001311074، NM_026839 NM_001081185، NM_001311074، NM_026839
RefSeq (پروتئین)	NP_001449 NP_001120959، NP_001449	NP_001298003، XP_036008175، XP_036008176 NP_001074654، NP_001298003، XP_036008175، XP_036008176
موقعیت (UCSC)	n/a	Chr : 29.43 – 29.46 Mb
جستجوی PubMed	[2]	[3]
ویکی‌داده
مشاهده/ویرایش Human View/Edit Mouse

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.[7][8]

اهمیت بالینی

جهش در ژن «FLNC» با بروز «کاردیومیوپاتی هایپرتروفیک» و «کاردیومیوپاتی محدودکننده»[9] و احتمال بالاتری از ایست قلبی[10] در ارتباط است. کمبود پروتئین فیلامین سی همچنین با بروز ضعف عضلانی مرتبط است.

منابع

1. 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.
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.
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.
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.
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.
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.
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.

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

برای مطالعهٔ بیشتر

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