FLNA

For the armed group in northern Mali, see National Liberation Front of Azawad.

FLNA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2AAV, 2BP3, 2BRQ, 2J3S, 2JF1, 2K3T, 2K7P, 2MTP, 2W0P, 2WFN, 3CNK, 3HOC, 3HOP, 3HOR, 3ISW, 3RGH, 4M9P, 4P3W
Identifiers
Aliases	FLNA, ABP-280, ABPX, CSBS, CVD1, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD, filamin A, FGS2
External IDs	OMIM: 300017; MGI: 95556; HomoloGene: 1119; GeneCards: FLNA; OMA:FLNA - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xq28 Start 154,348,524 bp End 154,374,634 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X A7.3|X 37.89 cM Start 73,267,067 bp End 73,293,426 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right coronary artery popliteal artery tibial arteries ascending aorta Descending thoracic aorta body of uterus saphenous vein gastric mucosa left coronary artery muscle layer of sigmoid colon Top expressed in tunica media of zone of aorta granulocyte ascending aorta uterus cervix umbilical cord external carotid artery aortic valve internal carotid artery tail of embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity protein-containing complex binding transcription factor binding mu-type opioid receptor binding signal transducer activity actin filament binding small GTPase binding kinase binding actin binding SMAD binding Fc-gamma receptor I complex binding G protein-coupled receptor binding GTPase binding RNA binding potassium channel regulator activity transmembrane transporter binding cadherin binding protein binding Cellular component cytoplasm membrane focal adhesion cortical cytoskeleton plasma membrane Myb complex dendritic shaft extracellular region soma cell cortex nucleolus actin filament actin cytoskeleton perinuclear region of cytoplasm extracellular exosome cytoskeleton nucleus apical dendrite filamentous actin extracellular matrix cell-cell junction cytosol Z discdkac Biological process actin cytoskeleton reorganization negative regulation of transcription by RNA polymerase I negative regulation of protein catabolic process establishment of protein localization protein stabilization platelet degranulation mRNA transcription by RNA polymerase II negative regulation of apoptotic process receptor clustering negative regulation of DNA-binding transcription factor activity cytoplasmic sequestering of protein platelet activation mitotic spindle assembly positive regulation of substrate adhesion-dependent cell spreading protein localization to cell surface cell projection organization adenylate cyclase-inhibiting dopamine receptor signaling pathway actin crosslink formation positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of integrin-mediated signaling pathway platelet aggregation cell junction assembly regulation of cell migration wound healing, spreading of cells semaphorin-plexin signaling pathway formation of radial glial scaffolds cerebral cortex development cilium assembly protein localization to plasma membrane positive regulation of potassium ion transmembrane transport regulation of membrane repolarization during atrial cardiac muscle cell action potential regulation of membrane repolarization during cardiac muscle cell action potential positive regulation of neural precursor cell proliferation positive regulation of neuron migration Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2316 192176 Ensembl ENSG00000196924 ENSMUSG00000031328 UniProt P21333 Q8BTM8 RefSeq (mRNA) NM_001110556 NM_001456 NM_001290421 NM_010227 RefSeq (protein) NP_001104026 NP_001447 NP_001277350 NP_034357 NP_001390993 Location (UCSC) Chr X: 154.35 – 154.37 Mb Chr X: 73.27 – 73.29 Mb PubMed search
Wikidata
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Filamin A, alpha (FLNA) is a protein that in humans is encoded by the FLNA gene.

Structure

The structure of Filamin A, alpha includes an actin binding N terminal domain, 24 internal repeats and 2 hinge regions.

Function

Actin-binding protein, or filamin, is a 280-kD protein that crosslinks actin filaments into orthogonal networks in cortical cytoplasm and participates in the anchoring of membrane proteins for the actin cytoskeleton. Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the FLNA gene, is a widely expressed filamin that regulates the reorganization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes, and secondary messengers. At least 31 disease-causing mutations in this gene have been discovered.

DNA repair

Interaction of FLNA with the BRCA1 protein is required for efficient regulation of early stages of DNA repair processes. FLNA is implicated in the control of the DNA repair process of homologous recombination and non-homologous end joining.

Interactions

Filamin has been shown to interact with:

• BRCA2,
• CD29
• CASR,
• FBLIM1,
• FILIP1,
• FLNB,
• NPHP1,
• RALA,
• SH2B3,
• TRIO, and
• VHL.

Further reading

• Light S, Sagit R, Ithychanda SS, Qin J, Elofsson A (Sep 2012). "The evolution of filamin — a protein domain repeat perspective". Journal of Structural Biology. 179 (3): 289–298. doi:10.1016/j.jsb.2012.02.010. PMC 3728663. PMID 22414427.
• Stossel TP, Condeelis J, Cooley L, Hartwig JH, Noegel A, Schleicher M, et al. (Feb 2001). "Filamins as integrators of cell mechanics and signalling". Nature Reviews. Molecular Cell Biology. 2 (2): 138–145. doi:10.1038/35052082. PMID 11252955. S2CID 5203942.
• van der Flier A, Sonnenberg A (Apr 2001). "Structural and functional aspects of filamins". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1538 (2–3): 99–117. doi:10.1016/S0167-4889(01)00072-6. PMID 11336782.
• Robertson S (October 2019). "X-Linked Otopalatodigital Spectrum Disorders". In Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Robertson S (eds.). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. PMID 20301567. NBK1393.
• Chen MH, Walsh CA (September 2021). "FLNA Deficiency". In Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Chen MH, Walsh CA (eds.). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. PMID 20301392. NBK1213.