• Gene id: 2192

Gene Summary

• Gene Symbol: FBLN1   Gene   UCSC   Ensembl
• Aliases: FBLN, FIBL1
• Gene name: fibulin 1
• Alternate names: fibulin-1,
• Gene location: 22q13.31 (45502882: 45601134)     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 v
• OMIM: 135820

Protein Summary

• Protein general information: P23142  
  • Name: Fibulin 1 (FIBL 1)
  • Length: 703  
  • Mass: 77214
  • 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: (36..7-)
    (/note="Anaphylatoxin-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00022-)
    (77..11-)
    (/note="Anaphylatoxin-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00022-)
    (112..14-)
    (/note="Anaphylatoxin-like-3)
    (/evidence="-)
  • Interpro: IPR000020  IPR026823  IPR001881  IPR013032  IPR000742   IPR000152  IPR018097  IPR017048  IPR009030  
  • Prosite: PS01177 PS01178 PS00010 PS01186 PS50026 PS01187
  • CDD: cd00017
  • STRING: ENSP00000331544
• Other Databases: GeneCards:  FBLN1  Malacards:  FBLN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016504	peptidase activator activity	IEA	molecular function
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0016504	peptidase activator activity	IEA	molecular function
GO:0005604	basement membrane	IEA	cellular component
GO:0007566	embryo implantation	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005615	extracellular space	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0010952	positive regulation of peptidase activity	IEA	biological process
GO:0010952	positive regulation of peptidase activity	IEA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0001933	negative regulation of protein phosphorylation	IDA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0072378	blood coagulation, fibrin clot formation	IDA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0005201	extracellular matrix structural constituent	IDA	molecular function
GO:2000146	negative regulation of cell motility	IDA	biological process
GO:0071953	elastic fiber	IDA	cellular component
GO:0007162	negative regulation of cell adhesion	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0031012	extracellular matrix	IDA	cellular component
GO:0007229	integrin-mediated signaling pathway	IDA	NOT|biological process
GO:1900025	negative regulation of substrate adhesion-dependent cell spreading	IDA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:2000647	negative regulation of stem cell proliferation	IDA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070051	fibrinogen binding	IPI	molecular function
GO:0001968	fibronectin binding	IPI	molecular function
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0001968	fibronectin binding	IPI	molecular function

Diseases

Associated diseases	References
Synpolydactyly	KEGG:H00459
Synpolydactyly	KEGG:H00459
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq