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Filamin C, gamma

PDB rendering based on 1v05.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols FLNC ; ABP-280; ABP280A; ABPA; ABPL; FLN2; MFM5; MPD4
External IDs OMIM102565 MGI95557 HomoloGene37481 GeneCards: FLNC Gene
RNA expression pattern
PBB GE FLNC 207876 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2318 68794
Ensembl ENSG00000128591 ENSMUSG00000068699
UniProt Q14315 Q8VHX6
RefSeq (mRNA) NM_001127487 NM_001081185
RefSeq (protein) NP_001120959 NP_001074654
Location (UCSC) Chr 7:
128.47 – 128.5 Mb
Chr 6:
29.43 – 29.46 Mb
PubMed search [1] [2]

Filamin-C (FLN-C) also known as actin-binding-like protein (ABPL) or filamin-2 (FLN2) is a protein that in humans is encoded by the FLNC gene.[1][2][3]

Function[edit]

This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain.[3]

Interactions[edit]

FLNC (gene) has been shown to interact with:

Clinical significance[edit]

Deficiency of this protein has been associated with muscle weakness.[13]

References[edit]

  1. ^ Maestrini E, Patrosso C, Mancini M, Rivella S, Rocchi M, Repetto M, Villa A, Frattini A, Zoppe M, Vezzoni P, et al. (Sep 1993). "Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7". Hum Mol Genet 2 (6): 761–6. doi:10.1093/hmg/2.6.761. PMID 7689010. 
  2. ^ Gariboldi M, Maestrini E, Canzian F, Manenti G, De Gregorio L, Rivella S, Chatterjee A, Herman GE, Archidiacono N, Antonacci R, et al. (Oct 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. 
  3. ^ a b "Entrez Gene: FLNC filamin C, gamma (actin binding protein 280)". 
  4. ^ 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". J. Cell Biol. 155 (6): 1065–79. doi:10.1083/jcb.200104005. PMC 2150887. PMID 11739414. 
  5. ^ 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". J. Neurosci. 20 (23): 8736–44. PMID 11102480. 
  6. ^ 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". J. Biol. Chem. 272 (5): 2620–8. doi:10.1074/jbc.272.5.2620. PMID 9006895. 
  7. ^ 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". Proc. Natl. Acad. Sci. U.S.A. 98 (4): 1595–600. doi:10.1073/pnas.041609698. PMC 29302. PMID 11171996. 
  8. ^ Frey N, Olson EN (April 2002). "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins". J. Biol. Chem. 277 (16): 13998–4004. doi:10.1074/jbc.M200712200. PMID 11842093. 
  9. ^ 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". J. Biol. Chem. 275 (52): 41234–42. doi:10.1074/jbc.M007493200. PMID 10984498. 
  10. ^ Paranavitane V, Coadwell WJ, Eguinoa A, Hawkins PT, Stephens L (January 2003). "LL5beta is a phosphatidylinositol (3,4,5)-trisphosphate sensor that can bind the cytoskeletal adaptor, gamma-filamin". J. Biol. Chem. 278 (2): 1328–35. doi:10.1074/jbc.M208352200. PMID 12376540. 
  11. ^ a b Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Thompson TG, Beckmann JS, Kunkel LM, Spencer MJ (October 2003). "Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans". Muscle Nerve 28 (4): 472–83. doi:10.1002/mus.10465. PMID 14506720. 
  12. ^ a b 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". J. Cell Biol. 148 (1): 115–26. doi:10.1083/jcb.148.1.115. PMID 10629222. 
  13. ^ Guergueltcheva V, Peeters K, Baets J, et al. (November 2011). "Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency". Neurology 77 (24): 2105–14. doi:10.1212/WNL.0b013e31823dc51e. PMID 22131542. 

Further reading[edit]

External links[edit]


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