InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: FBLN5

Summary

InnateDB Gene

IDBG-16575.6

Last Modified

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

Gene Symbol

FBLN5

Gene Name

fibulin 5

Synonyms

ADCL2; ARCL1A; ARMD3; DANCE; EVEC; FIBL-5; UP50

Species

Homo sapiens

Ensembl Gene

ENSG00000140092

Encoded Proteins

IDBP-16577

fibulin 5

IDBP-16579

fibulin 5

IDBP-598555

fibulin 5

IDBP-588292

fibulin 5

IDBP-603571

fibulin 5

IDBP-593641

fibulin 5

IDBP-603568

fibulin 5

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 14:91869412-91947987

Strand

Reverse strand

Band

q32.12

Transcripts

ENST00000267620	ENSP00000267620
ENST00000342058	ENSP00000345008
ENST00000556961
ENST00000556154	ENSP00000451982
ENST00000554121	ENSP00000450719
ENST00000557088	ENSP00000451002
ENST00000557462
ENST00000554468	ENSP00000451486
ENST00000557570	ENSP00000450787

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004888	transmembrane signaling receptor activity
GO:0005178	integrin binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008022	protein C-terminus binding

Biological Process

GO:0001558	regulation of cell growth
GO:0007160	cell-matrix adhesion
GO:0007165	signal transduction
GO:0007596	blood coagulation
GO:0030198	extracellular matrix organization
GO:0034394	protein localization to cell surface
GO:0048251	elastic fiber assembly
GO:2000121	regulation of removal of superoxide radicals

Cellular Component

GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005615	extracellular space
GO:0016020	membrane
GO:0031012	extracellular matrix
GO:0070062	extracellular vesicular exosome
GO:0071953	elastic fiber

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000021186

View Gene Order

ENSBTAG00000018123

Not yet available

Pathways

NETPATH

REACTOME

REACT_150331

Molecules associated with elastic fibres pathway

REACT_150366

Elastic fibre formation pathway

REACT_118779

Extracellular matrix organization pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.707292

RefSeq

NM_006329

HUGO

OMIM

CCDS

CCDS9898

HPRD

05204

IMGT

EMBL

GenPept

RNA Seq Atlas