FLNB

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Filamin B, beta
Protein FLNB PDB 2di8.png
PDB rendering based on 2di8.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols FLNB ; ABP-278; ABP-280; AOI; FH1; FLN-B; FLN1L; LRS1; SCT; TABP; TAP
External IDs OMIM603381 MGI2446089 HomoloGene37480 GeneCards: FLNB Gene
RNA expression pattern
PBB GE FLNB 208614 s at tn.png
PBB GE FLNB 208613 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2317 286940
Ensembl ENSG00000136068 ENSMUSG00000025278
UniProt O75369 Q80X90
RefSeq (mRNA) NM_001164317 NM_001081427
RefSeq (protein) NP_001157789 NP_001074896
Location (UCSC) Chr 3:
57.99 – 58.16 Mb
Chr 14:
7.82 – 7.95 Mb
PubMed search [1] [2]

Filamin B, beta (FLNB), also known as Filamin B, beta (actin binding protein 278), is a cytoplasmic protein which in humans is encoded by the FLNB gene.

FLNB regulates intracellular communication and signalling by cross-linking the protein actin to allow direct communication between the cell membrane and cytoskeletal network, to control and guide proper skeletal development.[1]

Mutations in the FLNB gene are involved in several lethal bone dysplasias, including boomerang dysplasia and atelosteogenesis type I.[2][3][4]

Interactions[edit]

FLNB has been shown to interact with GP1BA,[5] Filamin,[6] FBLIM1,[7] PSEN1,[8] CD29[9] and PSEN2.[8]

See also[edit]

References[edit]

  1. ^ Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V (2007). "Filamin B mutations cause chondrocyte defects in skeletal development". Hum Mol Genet. 16 (14): 1661–1675. doi:10.1093/hmg/ddm114. PMID 17510210. 
  2. ^ Bicknell LS, Morgan T, Bonife L, Wessels MW, Bialer MG, Willems PJ, Cohen DH, Krakow D, Robertson SP (2005). "Mutations in FLNB cause boomerang dysplasia". Am J Med Genet. 42 (7): e43. doi:10.1136/jmg.2004.029967. PMC 1736093. PMID 15994868. 
  3. ^ Greally MT, Jewett T, Smith WL Jr., Penick GD, Williamson RA (1993). "Lethal bone dysplasia in a fetus with manifestations of Atelosteogenesis type I and Boomerang dysplasia". Am J Med Genet. 47 (4): 1086–1091. doi:10.1002/ajmg.1320470731. PMID 8291529. 
  4. ^ Nishimura G, Horiuchi T, Kim OH, Sasamoto Y (1997). "Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome". Am J Med Genet. 73 (2): 132–138. doi:10.1002/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W. PMID 9409862. 
  5. ^ Takafuta, T; Wu G; Murphy G F; Shapiro S S (Jul 1998). "Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha". J. Biol. Chem. (UNITED STATES) 273 (28): 17531–8. doi:10.1074/jbc.273.28.17531. ISSN 0021-9258. PMID 9651345. 
  6. ^ Sheen, Volney L; Feng Yuanyi; Graham Donna; Takafuta Toshiro; Shapiro Sandor S; Walsh Christopher A (Nov 2002). "Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact". Hum. Mol. Genet. (England) 11 (23): 2845–54. doi:10.1093/hmg/11.23.2845. ISSN 0964-6906. PMID 12393796. 
  7. ^ Takafuta, Toshiro; Saeki Mari; Fujimoto Tetsuro-Takahiro; Fujimura Kingo; Shapiro Sandor S (Apr 2003). "A new member of the LIM protein family binds to filamin B and localizes at stress fibers". J. Biol. Chem. (United States) 278 (14): 12175–81. doi:10.1074/jbc.M209339200. ISSN 0021-9258. PMID 12496242. 
  8. ^ a b Zhang, W; Han S W; McKeel D W; Goate A; Wu J Y (Feb 1998). "Interaction of presenilins with the filamin family of actin-binding proteins". J. Neurosci. (UNITED STATES) 18 (3): 914–22. ISSN 0270-6474. PMC 2042137. PMID 9437013. 
  9. ^ van der Flier, Arjan; Kuikman Ingrid; Kramer Duco; Geerts Dirk; Kreft Maaike; Takafuta Toshiro; Shapiro Sandor S; Sonnenberg Arnoud (Jan 2002). "Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits". J. Cell Biol. (United States) 156 (2): 361–76. doi:10.1083/jcb.200103037. ISSN 0021-9525. PMC 2199218. PMID 11807098. 

External links[edit]

Further reading[edit]