InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Fbn1

Summary

InnateDB Gene

IDBG-203635.6

Last Modified

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

Gene Symbol

Fbn1

Gene Name

fibrillin 1

Synonyms

AI536462; B430209H23; Fib-1; Tsk

Species

Mus musculus

Ensembl Gene

ENSMUSG00000027204

Encoded Proteins

IDBP-203639

fibrillin 1

IDBP-203641

fibrillin 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000166147:
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 2:125300594-125507993

Strand

Reverse strand

Band

Transcripts

ENSMUST00000028633	ENSMUSP00000028633
ENSMUST00000103234	ENSMUSP00000099524
ENSMUST00000148272

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	1 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	14 [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: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