Filamiini A, endoteliaalinen aktiinia sitova proteiini ( ei-lihasfilamiini)

FLNA

https://www.ncbi.nlm.nih.gov/gene/2316

Also known as

FLN; FMD; MNS; OPD; ABPX; CSBS; CVD1; FGS2; FLN1; NHBP; OPD1; OPD2; XLVD; XMVD; FLN-A; ABP-280

Summary

The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including

 periventricular nodular heterotopias (PVNH1, PVNH4), 

otopalatodigital syndromes (OPD1, OPD2),

 frontometaphyseal dysplasia (FMD),

Melnick-Needles syndrome (MNS), and 

X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). 

Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

ExpressionBroad expression in endometrium (RPKM 345.6), esophagus (RPKM 285.0) and 22 other tissues See more

Preferred Names

filamin-A

Names

actin binding protein 280

alpha-filamin

endothelial actin-binding protein

epididymis secretory sperm binding protein

filamin A, alpha

filamin-1

non-muscle filamin

Conserved Domains (4) summary

smart00033
Location:172 → 264

CH; Calponin homology domain

smart00557
Location:1448 → 1542

IG_FLMN; Filamin-type immunoglobulin domains

cd00014
Location:44 → 148

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

pfam00630
Location:1445 → 1536

Filamin; Filamin/ABP280 repeat

 

 

Related articles in PubMed

1. Filamin A (FLNA) regulates autophagy of bladder carcinoma cell and affects its proliferation, invasion and metastasis. Wang Z, et al. Int Urol Nephrol, 2018 Feb. PMID 29288417
2. Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA. Mercer CL, et al. Circ Cardiovasc Genet, 2017 Dec. PMID 29237676
3. Integrity of the corpus callosum in patients with periventricular nodular heterotopia related epilepsy by FLNA mutation. Liu W, et al. Neuroimage Clin, 2018. PMID 29062687, Free PMC Article
4. Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies. Jenkins ZA, et al. Hum Mutat, 2018 Jan. PMID 29024177
5. Lung Transplantation for FLNA-Associated Progressive Lung Disease. Burrage LC, et al. J Pediatr, 2017 Jul. PMID 28457522, Free PMC Article

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

1. The authors describe a family with a novel FLNA mutation with a male-expressed, apparently isolated, cardiac phenotype with no skewed X-inactivation pattern in female carriers.
2. silencing filamin A may inhibit the invasion and migration of breast cancer cells by upregulating 14-3-3sigma.
3. FLNA overexpression suppressed the proliferation of Bladder Carcinoma cells, blocked cell cycle and promoted apoptosis of Bladder Carcinoma cell.
4. Silencing filamin A (FLNa) expression in lung cancer cell line A549 cells promoted proliferation, migration, and invasiveness of A549 cells by enhancing the activation of epidermal growth factor receptor and ERK signaling pathway.
5. The interaction between tissue factor and filamin A is dependent on the differential phosphorylation of Ser253 and Ser258. The interaction with filamin A may translocate cell surface TF to cholesterol-rich lipid rafts, increasing cell surface TF activity as well as TF incorporation and release into microvesicles.
6. Reduced RNA editing of FLNA gene is associated with psoriasis.
7. Data indicate mutations in FLNA (Filamin A) associated with Ebstein anomaly.
8. these observations describe a new mechanism of tissue-specific regulation of FLNA that could reflect the differing mechanical requirements of these cell types during development.
9. This study also indicates that FLNA may affect white matter integrity in patients with periventricular nodular heterotopia related epilepsy.
10. The mutations of the FLNA gene were observed in 7 (30.4%) of the 23 patients who with Sporadic periventricular nodular heterotopia.