InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: FLNA

Summary

InnateDB Gene

IDBG-91003.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FLNA

Gene Name

filamin A, alpha

Synonyms

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

Species

Homo sapiens

Ensembl Gene

ENSG00000196924

Encoded Proteins

IDBP-91005

filamin A, alpha

IDBP-91013

filamin A, alpha

IDBP-91019

filamin A, alpha

IDBP-91021

filamin A, alpha

IDBP-383489

filamin A, alpha

IDBP-383518

filamin A, alpha

IDBP-383521

filamin A, alpha

IDBP-383522

filamin A, alpha

IDBP-383524

filamin A, alpha

IDBP-808383

filamin A, alpha

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome X:154348524-154374638

Strand

Reverse strand

Band

q28

Transcripts

ENST00000360319	ENSP00000353467
ENST00000369856	ENSP00000358872
ENST00000369850	ENSP00000358866
ENST00000344736	ENSP00000358863
ENST00000420627	ENSP00000408921
ENST00000422373	ENSP00000416926
ENST00000444578	ENSP00000397824
ENST00000415241	ENSP00000405458
ENST00000438732	ENSP00000398215
ENST00000498411
ENST00000490936
ENST00000498491
ENST00000462590
ENST00000474358
ENST00000466325
ENST00000474072
ENST00000466319
ENST00000465144
ENST00000610817	ENSP00000480593

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 167 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	167 [view]
Protein-Protein	165 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001948	glycoprotein binding
GO:0003779	actin binding
GO:0004871	signal transducer activity
GO:0005080	protein kinase C binding
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0017048	Rho GTPase binding
GO:0017160	Ral GTPase binding
GO:0031267	small GTPase binding
GO:0031852	mu-type opioid receptor binding
GO:0034988	Fc-gamma receptor I complex binding
GO:0042803	protein homodimerization activity
GO:0044822	poly(A) RNA binding
GO:0046332	SMAD binding
GO:0048365	Rac GTPase binding
GO:0051015	actin filament binding

Biological Process

GO:0001837	epithelial to mesenchymal transition
GO:0002576	platelet degranulation
GO:0007195	adenylate cyclase-inhibiting dopamine receptor signaling pathway
GO:0007596	blood coagulation
GO:0030036	actin cytoskeleton organization
GO:0030168	platelet activation
GO:0031532	actin cytoskeleton reorganization
GO:0034329	cell junction assembly
GO:0034394	protein localization to cell surface
GO:0042177	negative regulation of protein catabolic process
GO:0042384	cilium assembly
GO:0042789	mRNA transcription from RNA polymerase II promoter
GO:0042993	positive regulation of transcription factor import into nucleus
GO:0043113	receptor clustering
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045022	early endosome to late endosome transport
GO:0045184	establishment of protein localization
GO:0050821	protein stabilization
GO:0051220	cytoplasmic sequestering of protein
GO:0051764	actin crosslink formation
GO:0090307	spindle assembly involved in mitosis

Cellular Component

GO:0005576	extracellular region
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005802	trans-Golgi network
GO:0005829	cytosol
GO:0005884	actin filament
GO:0005886	plasma membrane
GO:0015629	actin cytoskeleton
GO:0016020	membrane
GO:0030863	cortical cytoskeleton
GO:0031523	Myb complex
GO:0043025	neuronal cell body
GO:0043198	dendritic shaft
GO:0043234	protein complex
GO:0048471	perinuclear region of cytoplasm
GO:0070062	extracellular vesicular exosome
GO:0097440	apical dendrite