FBLN1

Gene Information
 
Gene Symbol
FBLN1
 
Aliases
FBLN, FIBL1
 
Entrez Gene ID
 
Gene Name
Fibulin 1
 
Chromosomal Location
22q13.31
 
HGNC ID
 
Summary
Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0001933 Biological process Negative regulation of protein phosphorylation IDA 11792823
GO:0007162 Biological process Negative regulation of cell adhesion IDA 11792823
GO:0007229 Biological process Integrin-mediated signaling pathway IDA 11792823
GO:0070373 Biological process Negative regulation of ERK1 and ERK2 cascade IDA 11792823
GO:0072378 Biological process Blood coagulation, fibrin clot formation IDA 7642629
Protein Information
 
Protein Name
Fibulin-1
 
Function
Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supramolecular organization of ECM architecture, in particular to those of basement membranes. Has been implicated in a role in cellular transformation and tumor invasion, it appears to be a tumor suppressor. May play a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and incorporate into clots. Could play a significant role in modulating the neurotrophic activities of APP, particularly soluble APP.
 
Refseq Proteins
 
UniProt
Pathways
 
Reactome
 

 

Molecules associated with elastic fibres

Interactions
 
STRING MINT IntAct
ENSP00000362570 Q8NAU1
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Neoplasms
Prostate cancer
Psychiatric/Brain disorders
Bipolar Disorder
Reproductive disorders
Endometrioma
Endometriosis
References
 

Increased fibulin-1 plasma levels in polycystic ovary syndrome (PCOS) patients: possible contribution to the link between PCOS and cardiovascular risk.

Scarinci E, Tropea A, Russo G, Notaristefano G, Messana C, Alesiani O, Fabozzi S M, Lanzone A, Apa R
Department of Obstetrics and Gynecology, Universita Cattolica del Sacro Cuore, L.go Agostino Gemelli, 8, 00168, Rome, Italy. elisascarinci.md@gmail.com.| Department of Obstetrics and Gynecology, Universita Cattolica del Sacro Cuore, L.go Agostino Gemelli, 8, 00168, Rome, Italy.| Department of Cardiovascular Sciences, Universita Cattolica del Sacro Cuore, Rome, Italy.| Department of Obstetrics and Gynecology, Universita Cattolica del Sacro Cuore, L.go Agostino Gemelli, 8, 00168, Rome, Italy.| Department of Obstetrics and Gynecology, Universita Cattolica del Sacro Cuore, L.go Agostino Gemelli, 8, 00168, Rome, Italy.| Department of Obstetrics and Gynecology, Universita Cattolica del Sacro Cuore, L.go Agostino Gemelli, 8, 00168, Rome, Italy.| Department of Obstetrics and Gynecology, Universita Cattolica del Sacro Cuore, L.go Agostino Gemelli, 8, 00168, Rome, Italy.| Department of Obstetrics and Gynecology, Universita Cattolica del Sacro Cuore, L.go Agostino Gemelli, 8, 00168, Rome, Italy.| Department of Obstetrics and Gynecology, Universita Cattolica del Sacro Cuore, L.go Agostino Gemelli, 8, 00168, Rome, Italy.
J Endocrinol Invest. 2019 Jan;42(1):91-96. doi: 10.1007/s40618-018-0891-3. Epub

Abnormal gene expression profiles in human ovaries from polycystic ovary syndrome patients.

Jansen Erik, Laven Joop S E, Dommerholt Henri B R, Polman Jan, van Rijt Cindy, van den Hurk Caroline, Westland Jolanda, Mosselman Sietse, Fauser Bart C J M
Global Business Inteligence Center, NV Organon, PO Box 20, 5340 BH Oss, The Netherlands. erik.jansen@organon.com
Mol Endocrinol. 2004 Dec;18(12):3050-63. doi: 10.1210/me.2004-0074. Epub 2004 Aug

| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412