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Gene id

2192

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

FBLN1 Gene UCSC Ensembl

Aliases

FBLN, FIBL1

Gene name

fibulin 1

Alternate names

fibulin-1,

Gene location

22q13.31 (45502838: 45601133) Exons: 20 NC_000022.11

Gene summary(Entrez)

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]

OMIM

135820

Protein Summary

Protein general information

P23142

Name: Fibulin 1 (FIBL 1)

Length: 703 Mass: 77,214

Tissue specificity: Isoform A and isoform B are only expressed in placenta. Isoform C and isoform D are expressed in a variety of tissues and cultured cells. {ECO

Sequence

MERAAPSRRVPLPLLLLGGLALLAAGVDADVLLEACCADGHRMATHQKDCSLPYATESKECRMVQEQCCHSQLEE
LHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVFQACCVKSQET
GDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSH
SCRLGESCINTVGSFRCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQ
DALGNCIDINECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVN
SPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSSPC
SQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQD
IDECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAATLQQEKTDTVRCIKSCRPNDVTCVFDPVHTISHTV
ISLPTFREFTRPEEIIFLRAITPPHPASQANIIFDITEGNLRDSFDIIKRYMDGMTVGVVRQVRPIVGPFHAVLK
LEMNYVVGGVVSHRNVVNVHIFVSEYWF

Structural information

Protein Domains	Anaphylatoxin-like (36-76) Anaphylatoxin-like (77-111) Anaphylatoxin-like (112-144) EGF-like (176-215)
Interpro:	IPR000020 IPR026823 IPR001881 IPR013032 IPR000742 IPR000152 IPR018097 IPR017048 IPR009030
Prosite:	PS01177 PS01178 PS00010 PS01186 PS50026 PS01187
Pfam:	PF12662 PF07645
MINT:	5005948
STRING:	ENSP00000331544;

Other Databases

GeneCards: FBLN1; Malacards: FBLN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001933	negative regulation of pr otein phosphorylation	IDA	biological_process
GO:0001968	fibronectin binding	IPI	molecular_function
GO:0001968	fibronectin binding	IPI	molecular_function
GO:0005178	integrin binding	IDA	molecular_function
GO:0005178	integrin binding	IDA	molecular_function
GO:0005201	extracellular matrix stru ctural constituent	IDA	molecular_function
GO:0005509	calcium ion binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IDA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0007162	negative regulation of ce ll adhesion	IDA	biological_process
GO:0007566	embryo implantation	IEA	biological_process
GO:0008022	protein C-terminus bindin g	IPI	molecular_function
GO:0008022	protein C-terminus bindin g	IPI	molecular_function
GO:0010628	positive regulation of ge ne expression	IDA	biological_process
GO:0010952	positive regulation of pe ptidase activity	IEA	biological_process
GO:0016032	viral process	IEA	biological_process
GO:0016504	peptidase activator activ ity	IEA	molecular_function
GO:0030198	extracellular matrix orga nization	IEA	biological_process
GO:0032403	protein complex binding	IPI	molecular_function
GO:0042802	identical protein binding	IDA	molecular_function
GO:0042802	identical protein binding	IDA	molecular_function
GO:0042802	identical protein binding	IDA	molecular_function
GO:0048146	positive regulation of fi broblast proliferation	IDA	biological_process
GO:0070051	fibrinogen binding	IPI	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070373	negative regulation of ER K1 and ERK2 cascade	IDA	biological_process
GO:0071953	elastic fiber	IDA	cellular_component
GO:0072378	blood coagulation, fibrin clot formation	IDA	biological_process
GO:1900025	negative regulation of su bstrate adhesion-dependen t cell spreading	IDA	biological_process
GO:1904188	negative regulation of tr ansformation of host cell by virus	IMP	biological_process
GO:1904237	positive regulation of su bstrate-dependent cell mi gration, cell attachment to substrate	IDA	biological_process
GO:2000146	negative regulation of ce ll motility	IDA	biological_process
GO:2000647	negative regulation of st em cell proliferation	IDA	biological_process
GO:2001202	negative regulation of tr ansforming growth factor- beta secretion	IDA	biological_process
GO:0007229	integrin-mediated signali ng pathway	IDA	biological_process
GO:0005577	fibrinogen complex	IDA	cellular_component
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0001933	negative regulation of pr otein phosphorylation	IDA	biological_process
GO:0001968	fibronectin binding	IPI	molecular_function
GO:0001968	fibronectin binding	IPI	molecular_function
GO:0005178	integrin binding	IDA	molecular_function
GO:0005178	integrin binding	IDA	molecular_function
GO:0005201	extracellular matrix stru ctural constituent	IDA	molecular_function
GO:0005509	calcium ion binding	IEA	molecular_function
GO:0005509	calcium ion binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IDA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0007162	negative regulation of ce ll adhesion	IDA	biological_process
GO:0007566	embryo implantation	IEA	biological_process
GO:0008022	protein C-terminus bindin g	IPI	molecular_function
GO:0008022	protein C-terminus bindin g	IPI	molecular_function
GO:0010628	positive regulation of ge ne expression	IDA	biological_process
GO:0010952	positive regulation of pe ptidase activity	IEA	biological_process
GO:0016032	viral process	IEA	biological_process
GO:0016504	peptidase activator activ ity	IEA	molecular_function
GO:0016504	peptidase activator activ ity	IEA	molecular_function
GO:0030198	extracellular matrix orga nization	IEA	biological_process
GO:0030198	extracellular matrix orga nization	IEA	biological_process
GO:0032403	protein complex binding	IPI	molecular_function
GO:0042802	identical protein binding	IDA	molecular_function
GO:0042802	identical protein binding	IDA	molecular_function
GO:0042802	identical protein binding	IDA	molecular_function
GO:0048146	positive regulation of fi broblast proliferation	IDA	biological_process
GO:0070051	fibrinogen binding	IPI	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070373	negative regulation of ER K1 and ERK2 cascade	IDA	biological_process
GO:0071953	elastic fiber	IDA	cellular_component
GO:0072378	blood coagulation, fibrin clot formation	IDA	biological_process
GO:1900025	negative regulation of su bstrate adhesion-dependen t cell spreading	IDA	biological_process
GO:1904188	negative regulation of tr ansformation of host cell by virus	IMP	biological_process
GO:1904237	positive regulation of su bstrate-dependent cell mi gration, cell attachment to substrate	IDA	biological_process
GO:2000146	negative regulation of ce ll motility	IDA	biological_process
GO:2000647	negative regulation of st em cell proliferation	IDA	biological_process
GO:2001202	negative regulation of tr ansforming growth factor- beta secretion	IDA	biological_process
GO:0007229	integrin-mediated signali ng pathway	IDA	biological_process
GO:0005577	fibrinogen complex	IDA	cellular_component
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0001933	negative regulation of pr otein phosphorylation	IDA	biological_process
GO:0001968	fibronectin binding	IPI	molecular_function
GO:0001968	fibronectin binding	IPI	molecular_function
GO:0005178	integrin binding	IDA	molecular_function
GO:0005178	integrin binding	IDA	molecular_function
GO:0005201	extracellular matrix stru ctural constituent	IDA	molecular_function
GO:0005509	calcium ion binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0007162	negative regulation of ce ll adhesion	IDA	biological_process
GO:0008022	protein C-terminus bindin g	IPI	molecular_function
GO:0008022	protein C-terminus bindin g	IPI	molecular_function
GO:0010628	positive regulation of ge ne expression	IDA	biological_process
GO:0032403	protein complex binding	IPI	molecular_function
GO:0042802	identical protein binding	IDA	molecular_function
GO:0042802	identical protein binding	IDA	molecular_function
GO:0042802	identical protein binding	IDA	molecular_function
GO:0048146	positive regulation of fi broblast proliferation	IDA	biological_process
GO:0070051	fibrinogen binding	IPI	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070373	negative regulation of ER K1 and ERK2 cascade	IDA	biological_process
GO:0071953	elastic fiber	IDA	cellular_component
GO:0072378	blood coagulation, fibrin clot formation	IDA	biological_process
GO:1900025	negative regulation of su bstrate adhesion-dependen t cell spreading	IDA	biological_process
GO:1904188	negative regulation of tr ansformation of host cell by virus	IMP	biological_process
GO:1904237	positive regulation of su bstrate-dependent cell mi gration, cell attachment to substrate	IDA	biological_process
GO:2000146	negative regulation of ce ll motility	IDA	biological_process
GO:2000647	negative regulation of st em cell proliferation	IDA	biological_process
GO:2001202	negative regulation of tr ansforming growth factor- beta secretion	IDA	biological_process
GO:0007229	integrin-mediated signali ng pathway	IDA	biological_process
GO:0005577	fibrinogen complex	IDA	cellular_component
GO:0031012	extracellular matrix	IDA	cellular_component

Diseases

Associated diseases	References
Bipolar disorder	PMID: 22365631
Endometriosis	PMID: 16249290
Endometriosis	INFBASE16249290
Synpolydactyly	OMIM: 135820

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
16249290	Endometrio sis			30 (15 patients undergoing lap aroscopy or hys terectomy for e ndometriosis, 1 5 controls)		IGFBP5 PIM2 RPL41 PSAP FBLN1 SIPL DLX5 HSD11B2 SET and RHOE	Show abstract