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Protein Page:
EFEMP1 (human)

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, signal peptide; Secreted
Cellular Component: extracellular matrix; proteinaceous extracellular matrix; extracellular space; extracellular region
Molecular Function: protein binding; growth factor activity; epidermal growth factor receptor activity; calcium ion binding; epidermal growth factor receptor binding
Biological Process: epidermal growth factor receptor signaling pathway; extracellular matrix organization and biogenesis; peptidyl-tyrosine phosphorylation; regulation of transcription, DNA-dependent; visual perception; negative regulation of chondrocyte differentiation
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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