Entity Details

Primary name FILA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP20930
EntryNameFILA_HUMAN
FullNameFilaggrin
TaxID9606
Evidenceevidence at protein level
Length4061
SequenceStatuscomplete
DateCreated1991-02-01
DateModified2021-06-02

Ontological Relatives

GenesFLG

GO terms

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GOName
GO:0001533 cornified envelope
GO:0005198 structural molecule activity
GO:0005509 calcium ion binding
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0007275 multicellular organism development
GO:0018149 peptide cross-linking
GO:0030216 keratinocyte differentiation
GO:0030280 structural constituent of skin epidermis
GO:0036457 keratohyalin granule
GO:0036464 cytoplasmic ribonucleoprotein granule
GO:0046914 transition metal ion binding
GO:0061436 establishment of skin barrier
GO:0062023 collagen-containing extracellular matrix
GO:0070268 cornification

Subcellular Location

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Subcellular Location
Cytoplasmic granule

Domains

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DomainNameCategoryType
IPR001751 S100/Calbindin-D9k, conserved siteSiteConserved site
IPR002048 EF-hand domainDomainDomain
IPR003303 FilaggrinFamilyFamily
IPR011992 EF-hand domain pairFamilyHomologous superfamily
IPR013787 S100/CaBP-9k-type, calcium binding, subdomainDomainDomain
IPR018247 EF-Hand 1, calcium-binding siteSiteBinding site
IPR034325 S-100DomainDomain

Diseases

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Disease IDSourceNameDescription
146700 OMIMIchthyosis vulgaris (VI)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. The disease is caused by variants affecting the gene represented in this entry.
605803 OMIMDermatitis atopic 2 (ATOD2)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. Disease susceptibility is associated with variants affecting the gene represented in this entry.