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Protein Page:

EFEMP1 Binds 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. Defects in EFEMP1 are a cause of Doyne honeycomb retinal dystrophy (DHRD); also known as malattia leventinese (MLVT) (ML). DHRD is an autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. Belongs to the fibulin family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 2p16.1
Cellular Component: extracellular matrix; extracellular region; extracellular space; proteinaceous extracellular matrix
Molecular Function: calcium ion binding; epidermal growth factor receptor activity; epidermal growth factor receptor binding; growth factor activity; protein binding
Biological Process: camera-type eye development; embryonic eye morphogenesis; epidermal growth factor receptor signaling pathway; negative regulation of chondrocyte differentiation; peptidyl-tyrosine phosphorylation; post-embryonic eye morphogenesis; regulation of transcription, DNA-templated; visual perception
Disease: Doyne Honeycomb Retinal Dystrophy
Reference #:  Q12805 (UniProtKB)
Alt. Names/Synonyms: DHRD; DRAD; EFEMP1; EGF-containing fibulin-like extracellular matrix protein 1; Extracellular protein S1-5; FBLN3; FBNL; FIBL-3; Fibrillin-like protein; fibulin 3; Fibulin-3; FLJ35535; MGC111353; MLVT; MTLV; S1-5
Gene Symbols: EFEMP1
Molecular weight: 54,641 Da
Basal Isoelectric point: 4.95  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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