Summary of EFEMP1
This gene encodes proteins that bind the EGF receptor and activates downstream signaling pathways. Mutations can cause problems with the retina (R).
The Function of 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.
Protein names
Recommended name:
EGF-containing fibulin-like extracellular matrix protein 1Short name:
FIBL-3Alternative name(s):
Extracellular protein S1-5Fibrillin-like protein
Fibulin-3
- RS1346786 (EFEMP1) ??
- RS1367228 (EFEMP1) ??
- RS1430193 (EFEMP1) ??
- RS3791675 (EFEMP1) ??
- RS3791679 (EFEMP1) ??
- RS3905075 (EFEMP1) ??
- RS78857879 (EFEMP1) ??
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Top Gene-Substance Interactions
EFEMP1 Interacts with These Diseases
| Disease | Score |
Substances That Increase EFEMP1
| Substances | Interaction | Organism | Category |
Substances That Decrease EFEMP1
| Substances | Interaction | Organism | Category |
Advanced Summary
From NCBI Gene: Doyne honeycomb retinal dystrophyFrom UniProt: Doyne honeycomb retinal dystrophy (DHRD): Autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. [MIM:126600]
From NCBI Gene: This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009] From UniProt: 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.
Conditions with Increased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Conditions with Decreased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Technical
The following transcription factors affect gene expression:
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.
Gene Pathways:
Molecular Function:
- Epidermal Growth Factor-Activated Receptor Activity
- Epidermal Growth Factor Receptor Binding
- Calcium Ion Binding
Biological Processes:
- Regulation Of Transcription, Dna-Templated
- Epidermal Growth Factor Receptor Signaling Pathway
- Visual Perception
- Positive Regulation Of Cell Proliferation
- Negative Regulation Of Neuron Projection Development
- Peptidyl-Tyrosine Phosphorylation
- Positive Regulation Of Cell Projection Organization
- Negative Regulation Of Chondrocyte Differentiation
- Camera-Type Eye Development
- Embryonic Eye Morphogenesis
- Post-Embryonic Eye Morphogenesis
- Regulation Of Glial Cell Migration