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
fibrillin 1
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 F1
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
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathway Predictions based on Human Orthology Data
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 A2AQ53 Q3TNW1 Q3TRZ5
UniProt Splice Variant
Entrez Gene 14118
UniGene Mm.271644 Mm.470705
RefSeq NM_007993 XM_006498747
OMIM
CCDS CCDS16676
HPRD
IMGT
MGI ID MGI:95489
MGI Symbol Fbn1
EMBL AK162378 AK164949 AL844547 AL928930
GenPept BAE36881 BAE37976
RNA Seq Atlas 14118