QuickView for fibrillin-1 (gene)

Gene Symbol:

FBN1 Homo sapiens

Full name:

fibrillin 1

Synonyms:

ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, fibrillin-1, asprosin, fibrillin 15, fibrillin-1 preproprotein

Genomic Location:

Chr 15: 46487797-46725210

Description:

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 microf...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

ATGTCAC_MIR489 ,  GTGCAAT_MIR25_MIR32_MIR92_MIR363_MIR367 ,  GGGAGGRR_MAZ_Q6 ,  TAATGTG_MIR323 ,  CATGTAA_MIR496 ,  TGCACTG_MIR148A_MIR152_MIR148B ,  ACCAAAG_MIR9 ,  AATGTGA_MIR23A_MIR23B ,  TGGTGCT_MIR29A_MIR29B_MIR29C

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-148 ,  Predicted Gene Targets for miR-23 ,  Predicted Gene Targets for miR-25 ,  Predicted Gene Targets for miR-323 ,  Predicted Gene Targets for miR-329 ,  Predicted Gene Targets for miR-542-3p ,  Predicted Gene Targets for miR-9 ,  Predicted Gene Targets for miR-29 ,  Predicted Gene Targets for miR-380-5p ,  Predicted Gene Targets for miR-496

miRNA binding sites
(Source: miRecords):

hsa-miR-29c Targeted Genes

Cytogenetic Map:

15q21.1

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