Homo sapiens Protein: FLG | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-102481.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | FLG | ||||||||||||||||||
Protein Name | filaggrin | ||||||||||||||||||
Synonyms | ATOD2; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000357789 | ||||||||||||||||||
InnateDB Gene | IDBG-102479 (FLG) | ||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||
Function | Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis. | ||||||||||||||||||
Subcellular Localization | |||||||||||||||||||
Disease Associations | Ichthyosis vulgaris (VI) [MIM:146700]: The most common form of ichthyosis inherited as an autosomal dominant trait. It is characterized by palmar hyperlinearity, keratosis pilaris and a fine scale that is most prominent over the lower abdomen, arms, and legs. Ichthyosis vulgaris is characterized histologically by absent or reduced keratohyalin granules in the epidermis and mild hyperkeratosis. The disease can be associated with frequent asthma, eczema or hay fever. {ECO:0000269PubMed:16444271}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dermatitis atopic 2 (ATOD2) [MIM:605803]: Atopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE-mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. {ECO:0000269PubMed:16550169, ECO:0000269PubMed:16815158, ECO:0000269PubMed:17030239, ECO:0000269PubMed:17291859}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Keratohyalin granules. {ECO:0000269PubMed:1429717}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
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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 |
IPR002048
EF-hand domain IPR003303 Filaggrin IPR013787 S100/CaBP-9k-type, calcium binding, subdomain |
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PFAM |
PF00036
PF13202 PF13405 PF03516 PF01023 |
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PRINTS |
PR00487
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PIRSF | |||||||||||||||||||
SMART |
SM00054
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P20930 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P20930 | ||||||||||||||||||
TrEMBL | Q4JFL9 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 2312 | ||||||||||||||||||
UniGene | Hs.654510 | ||||||||||||||||||
RefSeq | NP_002007 | ||||||||||||||||||
HUGO | HGNC:3748 | ||||||||||||||||||
OMIM | 135940 | ||||||||||||||||||
CCDS | CCDS30860 | ||||||||||||||||||
HPRD | 15920 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AL356504 JN184345 JN184347 JN184348 JN184350 L01089 L01090 M24355 | ||||||||||||||||||
GenPept | AAA52454 AAA60176 AAA60177 AFH55054 AFH55056 AFH55057 AFH55059 CAI19595 | ||||||||||||||||||