Filaggrin (FLG)

Profilaggrin

SPN	O650
HGNC	3748
MGI	95553
PubMed	19726197
RGD	2620
UniProt	P20930
Wiki	Filaggrin

Filaggrinis 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. This structure is similar to that of the mouse; however, the human filaggrin repeat is much longer (972 basepairs; 324 amino acids) and shows little sequence homology to the mouse protein. Amino acid sequences encoding the amino and carboxyl termini were more conserved, as were the 5-prime and 3-prime DNA sequences flanking the coding portions of the gene.

Reference

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"Characterization of the human epidermal profilaggrin gene. Genomic organization and identification of an S-100-like calcium binding domain at the amino terminus."
J. Biol. Chem. 267:23772-23781(1992) [PubMed] [Europe PMC] [Abstract]

"Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21."
Proc. Natl. Acad. Sci. U.S.A. 86:4848-4852(1989) [PubMed] [Europe PMC] [Abstract]

"Identification of the amino terminus of human filaggrin using differential LC/MS techniques: implications for profilaggrin processing."
Biochemistry 34:8687-8692(1995) [PubMed] [Europe PMC] [Abstract]

"Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis."
Biochem. Biophys. Res. Commun. 225:712-719(1996) [PubMed] [Europe PMC] [Abstract]

"Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations."
J. Allergy Clin. Immunol. 118:214-219(2006) [PubMed] [Europe PMC] [Abstract]

"Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march."
J. Allergy Clin. Immunol. 118:866-871(2006) [PubMed] [Europe PMC] [Abstract]

"Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris."
Nat. Genet. 38:337-342(2006) [PubMed] [Europe PMC] [Abstract]

"Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis."
Nat. Genet. 38:441-446(2006) [PubMed] [Europe PMC] [Abstract]

"Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis."
J. Allergy Clin. Immunol. 119:434-440(2007) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]