NP_002007.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
26.8 kDa
NCBI Official Full Name
filaggrin
NCBI Official Synonym Full Names
filaggrin
NCBI Official Synonym Symbols
NCBI Protein Information
filaggrin
UniProt Protein Name
Filaggrin
UniProt Entry Name
FILA_HUMAN
NCBI Summary for FLG
The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]
UniProt Comments for FLG
FLG: Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis. Defects in FLG are the cause of ichthyosis vulgaris (VI); also known as ichthyosis simplex. Ichthyosis vulgaris is 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. Defects in FLG are a cause of susceptibility to dermatitis atopic type 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. Belongs to the S100-fused protein family.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 1q21.3
Cellular Component: intermediate filament; intracellular membrane-bound organelle; nucleus
Molecular Function: calcium ion binding; protein binding; structural molecule activity
Biological Process: keratinocyte differentiation; multicellular organismal development
Disease: Dermatitis, Atopic, 2; Ichthyosis Vulgaris
Product References and Citations for FLG recombinant protein
The DNA sequence and biological annotation of human chromosome 1.Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.Nature 441:315-321(2006)
Characterization of the human epidermal profilaggrin gene. Genomic organization and identification of an S-100-like calcium binding domain at the amino terminus.Presland R.B., Haydock P.V., Fleckman P., Nirunsuksiri W., Dale B.A.J. Biol. Chem. 267:23772-23781(1992)
Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21.McKinley-Grant L.J., Idler W.W., Bernstein I.A., Parry D.A.D., Cannizzaro L., Croce C.M., Huebner K., Lessin S.R., Steinert P.M.Proc. Natl. Acad. Sci. U.S.A. 86:4848-4852(1989)
Identification of the amino terminus of human filaggrin using differential LC/MS techniques
implications for profilaggrin processing.Thulin C.D., Walsh K.A.Biochemistry 34:8687-8692(1995)
Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis.Senshu T., Kan S., Ogawa H., Manabe M., Asaga H.Biochem. Biophys. Res. Commun. 225:712-719(1996)
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.Weidinger S., Illig T., Baurecht H., Irvine A.D., Rodriguez E., Diaz-Lacava A., Klopp N., Wagenpfeil S., Zhao Y., Liao H., Lee S.P., Palmer C.N.A., Jenneck C., Maintz L., Hagemann T., Behrendt H., Ring J., Nothen M.M., McLean W.H.I., Novak N.J. Allergy Clin. Immunol. 118:214-219(2006)
Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.Marenholz I., Nickel R., Rueschendorf F., Schulz F., Esparza-Gordillo J., Kerscher T., Grueber C., Lau S., Worm M., Keil T., Kurek M., Zaluga E., Wahn U., Lee Y.-A.J. Allergy Clin. Immunol. 118:866-871(2006)
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.Smith F.J.D., Irvine A.D., Terron-Kwiatkowski A., Sandilands A., Campbell L.E., Zhao Y., Liao H., Evans A.T., Goudie D.R., Lewis-Jones S., Arseculeratne G., Munro C.S., Sergeant A., O'Regan G., Bale S.J., Compton J.G., DiGiovanna J.J., Presland R.B., Fleckman P., McLean W.H.I.Nat. Genet. 38:337-342(2006)
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.Palmer C.N.A., Irvine A.D., Terron-Kwiatkowski A., Zhao Y., Liao H., Lee S.P., Goudie D.R., Sandilands A., Campbell L.E., Smith F.J.D., O'Regan G.M., Watson R.M., Cecil J.E., Bale S.J., Compton J.G., DiGiovanna J.J., Fleckman P., Lewis-Jones S., Arseculeratne G., Sergeant A., Munro C.S., El Houate B., McElreavey K., Halkjaer L.B., Bisgaard H., Mukhopadhyay S., McLean W.H.I.Nat. Genet. 38:441-446(2006)
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis.Nomura T., Sandilands A., Akiyama M., Liao H., Evans A.T., Sakai K., Ota M., Sugiura H., Yamamoto K., Sato H., Palmer C.N.A., Smith F.J.D., McLean W.H.I., Shimizu H.J. Allergy Clin. Immunol. 119:434-440(2007)
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.J. Proteomics 96:253-262(2014)
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Products associated with FLG recombinant protein
Pathways associated with FLG recombinant protein
Diseases associated with FLG recombinant protein
Disease Name |
Pubmed Publications |
Dermatitis, Atopic Antibodies |
>214 publications with FLG and Dermatitis, Atopic |
Dermatitis, Atopic, 1 Antibodies |
>122 publications with FLG and Dermatitis, Atopic, 1 |
Dermatitis, Atopic, 2 Antibodies |
>105 publications with FLG and Dermatitis, Atopic, 2 |
Eczema Antibodies |
>83 publications with FLG and Eczema |
Ichthyosis Vulgaris Antibodies |
>64 publications with FLG and Ichthyosis Vulgaris |
Inflammation Antibodies |
>43 publications with FLG and Inflammation |
Lung Diseases Antibodies |
>38 publications with FLG and Lung Diseases |
Dermatitis, Contact Antibodies |
>30 publications with FLG and Dermatitis, Contact |
Necrosis Antibodies |
>14 publications with FLG and Necrosis |
Breast Neoplasms Antibodies |
>8 publications with FLG and Breast Neoplasms |
Organs/Tissues associated with FLG recombinant protein
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