Homo sapiens Protein: FLNA | |||||||||||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||||||||||
InnateDB Protein | IDBP-91005.7 | ||||||||||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||||||||
Gene Symbol | FLNA | ||||||||||||||||||||||||||||||||||||
Protein 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 Protein | ENSP00000353467 | ||||||||||||||||||||||||||||||||||||
InnateDB Gene | IDBG-91003 (FLNA) | ||||||||||||||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||||||||||||||
Function | Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface- localized furin, modulates its rate of internalization and directs its intracellular trafficking (By similarity). Involved in ciliogenesis. {ECO:0000250, ECO:0000269PubMed:22121117}. | ||||||||||||||||||||||||||||||||||||
Subcellular Localization | Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. | ||||||||||||||||||||||||||||||||||||
Disease Associations | Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049]: A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period. {ECO:0000269PubMed:11532987, ECO:0000269PubMed:11914408, ECO:0000269PubMed:12410386, ECO:0000269PubMed:15249610, ECO:0000269PubMed:16299064}. Note=The disease is caused by mutations affecting the gene represented in this entry.Periventricular nodular heterotopia 4 (PVNH4) [MIM:300537]: A disorder characterized by nodular brain heterotopia, joint hypermobility and development of aortic dilation in early adulthood. {ECO:0000269PubMed:15668422, ECO:0000269PubMed:15994863}. Note=The disease is caused by mutations affecting the gene represented in this entry.Otopalatodigital syndrome 1 (OPD1) [MIM:311300]: X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X-linked skeletal dysplasias known as oto-palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. FLNA is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. Males with OPD1 have cleft palate, malformations of the ossicles causing deafness and milder bone and limb defects than those associated with OPD2. Obligate female carriers of mutations causing both OPD1 and OPD2 have variable (often milder) expression of a similar phenotypic spectrum. {ECO:0000269PubMed:12612583, ECO:0000269PubMed:15940695}. Note=The disease is caused by mutations affecting the gene represented in this entry.Otopalatodigital syndrome 2 (OPD2) [MIM:304120]: Congenital bone disorder that is characterized by abnormally modeled, bowed bones, small or absent first digits and, more variably, cleft palate, posterior fossa brain anomalies, omphalocele and cardiac defects. {ECO:0000269PubMed:12612583, ECO:0000269PubMed:17431908}. Note=The disease is caused by mutations affecting the gene represented in this entry.Frontometaphyseal dysplasia (FMD) [MIM:305620]: Congenital bone disease characterized by supraorbital hyperostosis, deafness and digital anomalies. {ECO:0000269PubMed:12612583, ECO:0000269PubMed:16596676}. Note=The disease is caused by mutations affecting the gene represented in this entry.Melnick-Needles syndrome (MNS) [MIM:309350]: Severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull. {ECO:0000269PubMed:12612583}. Note=The disease is caused by mutations affecting the gene represented in this entry.Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked (IPOX) [MIM:300048]: A disease characterized by a severe abnormality of gastrointestinal motility due to primary qualitative defects of enteric ganglia and nerve fibers. Affected individuals manifest recurrent signs of intestinal obstruction in the absence of any mechanical lesion. {ECO:0000269PubMed:17357080}. Note=The disease is caused by mutations affecting the gene represented in this entry.FG syndrome 2 (FGS2) [MIM:300321]: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. {ECO:0000269PubMed:17632775}. Note=The disease is caused by mutations affecting the gene represented in this entry.Terminal osseous dysplasia (TOD) [MIM:300244]: A rare X- linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin and recurrent digital fibroma during infancy. A significant phenotypic variability is observed in affected females. {ECO:0000269PubMed:20598277}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]: A rare X-linked heart disease characterized by mitral and/or aortic valve regurgitation. The histologic features include fragmentation of collagenous bundles within the valve fibrosa and accumulation of proteoglycans, which produces excessive valve tissue leading to billowing of the valve leaflets. {ECO:0000269PubMed:17190868}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in FLNA may be a cause of macrothrombocytopenia, a disorder characterized by subnormal levels of blood platelets. Blood platelets are abnormally enlarged.Congenital short bowel syndrome, X-linked (CSBSX) [MIM:300048]: A disease characterized by a shortened small intestine, and malabsorption. The mean length of the small intestine in affected individuals is approximately 50 cm, compared with a normal length at birth of 190-280 cm. It is associated with significant mortality and morbidity. Infants usually present with failure to thrive, recurrent vomiting, and diarrhea. {ECO:0000269PubMed:23037936}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||||||||||||||
Tissue Specificity | Ubiquitous. | ||||||||||||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||||||||||
InterPro |
IPR001298
Filamin/ABP280 repeat IPR001715 Calponin homology domain IPR014756 Immunoglobulin E-set IPR017868 Filamin/ABP280 repeat-like |
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PFAM |
PF00307
PF00630 |
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PRINTS | |||||||||||||||||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||||||||||||||||
SMART |
SM00557
SM00033 |
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TIGRFAMs | |||||||||||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||||||||
SwissProt | P21333 | ||||||||||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-P21333 | ||||||||||||||||||||||||||||||||||||
TrEMBL | Q96C61 | ||||||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||||||
Entrez Gene | 2316 | ||||||||||||||||||||||||||||||||||||
UniGene | Hs.195464 | ||||||||||||||||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||||||||||||||||
HUGO | HGNC:3754 | ||||||||||||||||||||||||||||||||||||
OMIM | 300017 | ||||||||||||||||||||||||||||||||||||
CCDS | CCDS44021 | ||||||||||||||||||||||||||||||||||||
HPRD | 02060 | ||||||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||||||
EMBL | AB191259 AB371575 AB371578 AB371579 AB593010 AK074048 AK090427 BC014654 BC041179 BC067111 BX664723 BX936346 CH471172 GU727643 L44140 X53416 X70082 X70085 | ||||||||||||||||||||||||||||||||||||
GenPept | AAA92644 AAH14654 AAH41179 AAH67111 ADU87644 BAB84874 BAC03408 BAD52435 BAG48304 BAG48307 BAG48308 BAJ83965 CAA37495 CAA49687 CAA49690 CAI43197 CAI43199 CAI43225 CAI43227 EAW72745 EAW72746 | ||||||||||||||||||||||||||||||||||||