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MGP001040

UniProt Annotations

Entry Information
Gene NameEGF containing fibulin-like extracellular matrix protein 1
Protein EntryFBLN3_HUMAN
UniProt IDQ12805
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=5; Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q12805-1; Sequence=Displayed; Name=2; IsoId=Q12805-2; Sequence=VSP_001392; Name=3; IsoId=Q12805-3; Sequence=VSP_001393; Name=4; IsoId=Q12805-4; Sequence=VSP_001394; Name=5; IsoId=Q12805-5; Sequence=VSP_054372, VSP_054373; Note=No experimental confirmation available.;
DiseaseDoyne honeycomb retinal dystrophy (DHRD) [MIM:126600]: Autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. {ECO:0000269|PubMed:10369267, ECO:0000269|PubMed:11384588}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionBinds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth. {ECO:0000269|PubMed:19804359, ECO:0000269|PubMed:19887559, ECO:0000269|PubMed:20005202}.
InteractionQ9WMX2:- (xeno); NbExp=2; IntAct=EBI-536772, EBI-6863748; P10398:ARAF; NbExp=3; IntAct=EBI-536772, EBI-365961; P54259:ATN1; NbExp=3; IntAct=EBI-536772, EBI-945980;
MiscellaneousUp-regulated in malignant gliomas. May increase glioma cell adhesiveness and invasive properties.
SimilarityBelongs to the fibulin family. {ECO:0000305}.
SimilarityContains 6 EGF-like domains. {ECO:0000255|PROSITE- ProRule:PRU00076}.
Subcellular LocationSecreted, extracellular space {ECO:0000250}. Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Localizes to the lamina propria underneath the olfactory epithelium. {ECO:0000250}.
SubunitInteracts with ECM1. Interacts with TIMP3. {ECO:0000269|PubMed:15123717, ECO:0000269|PubMed:19275936}.
Tissue SpecificityIn the eye, associated with photoreceptor outer and inner segment regions, the nerve fiber layer, outer nuclear layer and inner and outer plexiform layers of the retina. {ECO:0000269|PubMed:12242346, ECO:0000269|PubMed:20005202}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/EFEMP1ID49818ch2p16.html";
Web ResourceName=Mutations of the EFEMP1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/efempmut.htm";
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