InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EFEMP1

Summary

InnateDB Protein

IDBP-52697.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EFEMP1

Protein Name

EGF containing fibulin-like extracellular matrix protein 1

Synonyms

DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5;

Species

Homo sapiens

Ensembl Protein

ENSP00000347596

InnateDB Gene

IDBG-52693 (EFEMP1)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:19804359, ECO:0000269PubMed:19887559, ECO:0000269PubMed:20005202}.

Subcellular Localization

Secreted, extracellular space {ECO:0000250}. Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Localizes to the lamina propria underneath the olfactory epithelium. {ECO:0000250}.

Disease Associations

Doyne 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:0000269PubMed:10369267, ECO:0000269PubMed:11384588}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

In 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:0000269PubMed:12242346, ECO:0000269PubMed:20005202}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.

Experimentally validated
Total	18 [view]
Protein-Protein	18 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005006	epidermal growth factor-activated receptor activity
GO:0005154	epidermal growth factor receptor binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008083	growth factor activity

Biological Process

GO:0006355	regulation of transcription, DNA-templated
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0007601	visual perception
GO:0018108	peptidyl-tyrosine phosphorylation
GO:0030198	extracellular matrix organization
GO:0032331	negative regulation of chondrocyte differentiation

Cellular Component

GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005615	extracellular space
GO:0031012	extracellular matrix
GO:0070062	extracellular vesicular exosome