InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: FBN1

Summary

InnateDB Gene

IDBG-10989.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FBN1

Gene Name

fibrillin 1

Synonyms

ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1; OCTD; SGS; SSKS; WMS; WMS2

Species

Homo sapiens

Ensembl Gene

ENSG00000166147

Encoded Proteins

IDBP-10991

fibrillin 1

IDBP-602894

fibrillin 1

IDBP-602706

fibrillin 1

IDBP-598591

fibrillin 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 15:48408306-48645849

Strand

Reverse strand

Band

q21.1

Transcripts

ENST00000316623	ENSP00000325527
ENST00000559133	ENSP00000453958
ENST00000561429
ENST00000560720
ENST00000537463	ENSP00000440294
ENST00000560820
ENST00000560355	ENSP00000453901
ENST00000558230

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	15 [view]
Protein-Protein	15 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005201	extracellular matrix structural constituent
GO:0005509	calcium ion binding
GO:0005515	protein binding

Biological Process

GO:0001501	skeletal system development
GO:0001656	metanephros development
GO:0001822	kidney development
GO:0007507	heart development
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0035582	sequestering of BMP in extracellular matrix
GO:0035583	sequestering of TGFbeta in extracellular matrix
GO:0071560	cellular response to transforming growth factor beta stimulus

Cellular Component

GO:0001527	microfibril
GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005604	basement membrane
GO:0005615	extracellular space
GO:0031012	extracellular matrix
GO:0070062	extracellular vesicular exosome