Homo sapiens Protein: FLNC | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-40118.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | FLNC | ||||||||||||||||||||||
Protein Name | filamin C, gamma | ||||||||||||||||||||||
Synonyms | ABP-280; ABP280A; ABPA; ABPL; FLN2; MFM5; MPD4; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000327145 | ||||||||||||||||||||||
InnateDB Gene | IDBG-40116 (FLNC) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross- linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000269PubMed:11038172}. Membrane {ECO:0000269PubMed:11038172}; Peripheral membrane protein {ECO:0000269PubMed:11038172}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:11038172}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269PubMed:11038172}. Note=A small amount localizes at membranes. In striated muscle cells, it predominantly localizes in myofibrillar Z lines, while a minor fraction localizes with subsarcolemme. Targeting to developing and mature Z lines is mediated by the intradomain insert. | ||||||||||||||||||||||
Disease Associations | Myopathy, myofibrillar, 5 (MFM5) [MIM:609524]: A neuromuscular disorder, usually with an adult onset, characterized by focal myofibrillar destruction, pathological cytoplasmic protein aggregations, and clinical features of a limb-girdle myopathy. {ECO:0000269PubMed:15929027}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myopathy, distal, 4 (MPD4) [MIM:614065]: A slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non-specific changes with no evidence of rods, necrosis, or inflammation. {ECO:0000269PubMed:21620354}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Highly expressed in striated muscles. Weakly expressed in thyroid, fetal brain, fetal lung, retina, spinal cord and bone marrow. Not expressed in testis, pancreas, adrenal gland, placenta, liver and kidney. {ECO:0000269PubMed:11038172, ECO:0000269PubMed:7689010, ECO:0000269PubMed:9791010}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 81 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 | Q14315 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q14315 | ||||||||||||||||||||||
TrEMBL | Q59H94 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 2318 | ||||||||||||||||||||||
UniGene | Hs.58414 | ||||||||||||||||||||||
RefSeq | NP_001449 | ||||||||||||||||||||||
HUGO | HGNC:3756 | ||||||||||||||||||||||
OMIM | 102565 | ||||||||||||||||||||||
CCDS | CCDS43644 | ||||||||||||||||||||||
HPRD | 00018 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB208865 AB371585 AC025594 AF089841 AF146692 AF184119 AF184120 AF184121 AF184122 AF184123 AF184124 AF184125 AF184126 AF252549 AJ012737 AJ132990 AK001048 CH471070 X70083 X70084 | ||||||||||||||||||||||
GenPept | AAD12245 AAF67190 AAF68195 AAF80245 BAD92102 BAG48314 BAG50853 CAA49688 CAA49689 CAB46442 CAB51535 EAW83691 | ||||||||||||||||||||||