FBN1

This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]

Description

Fibrillin 1

Tissue specificity

Tissue enhanced (adipose tissue, placenta)

Subcell location

Cytosol

Predicted location

Secreted to blood

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

15 (48408313 - 48645721)

Ensembl ID

ENSG00000166147  (ver. 103.38)

Orthologs

Mouse Fbn1: ENSMUSG00000027204

UniProt

P35555

neXtProt

NX_P35555

Human splice variants
Mouse splice variants

Protein structure