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
fibrillin 1
fibrillin 1
fibrillin 1
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Elastic fibre formation pathway
Extracellular matrix organization pathway
Molecules associated with elastic fibres pathway
Degradation of the extracellular matrix pathway
Integrin cell surface interactions pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Beta1 integrin cell surface interactions
Beta3 integrin cell surface interactions
Beta5 beta6 beta7 and beta8 integrin cell surface interactions
Cross-References
SwissProt
TrEMBL H0YN80
UniProt Splice Variant
Entrez Gene 2200
UniGene Hs.146447 Hs.591133 Hs.596842 Hs.667213 Hs.733694
RefSeq NM_000138
HUGO HGNC:3603
OMIM 134797
CCDS CCDS32232
HPRD 00618
IMGT
EMBL AC022467 AC084757 AC084758
GenPept
RNA Seq Atlas 2200