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  3. EFEMP1

EFEMP1 (EGF containing fibulin like extracellular matrix protein 1)

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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).

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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 1

Short name:

FIBL-3

Alternative name(s):

Extracellular protein S1-5
Fibrillin-like protein
Fibulin-3

EFEMP1 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS1346786 (EFEMP1) ??
  2. RS1367228 (EFEMP1) ??
  3. RS1430193 (EFEMP1) ??
  4. RS3791675 (EFEMP1) ??
  5. RS3791679 (EFEMP1) ??
  6. RS3905075 (EFEMP1) ??
  7. RS78857879 (EFEMP1) ??

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

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • PPAR-gamma1
  • HNF-1A
  • PPAR-gamma2
  • Pbx1a
  • PPAR-alpha
  • HNF-1

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:

  • Extracellular matrix organization

Molecular Function:

  • Calcium Ion Binding
  • Epidermal Growth Factor-Activated Receptor Activity
  • Epidermal Growth Factor Receptor Binding

Biological Processes:

  • 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
  • Negative Regulation Of Neuron Projection Development
  • Positive Regulation Of Cell Projection Organization
  • Positive Regulation Of Cell Proliferation
  • Regulation Of Glial Cell Migration
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| T16| AS27_04188| AS28_01700| CB1_000157024| D623_10034322| DHRD| DRAD| EGF containing fibulin-like extracellular matrix protein 1| EGF-containing fibulin-like extracellular matrix protein 1| EGK_05341| epidermal growth factor-containing fibulin-like extracellular matrix protein 1| extracellular protein S1-5| FBLN3| FBNL| FIBL-3| Fibulin-3| H920_20176| I79_020269| M91_19370| M959_03756| MLVT| MTLV| N300_06251| N301_10965| N302_14386| N303_01186| N305_05037| N306_03667| N307_02220| N308_02487| N309_10731| N311_10379| N312_04587| N324_05562| N325_02877| N326_09336| N328_03844| N330_10196| N331_03144| N333_03119| N334_11945| N335_11349| N336_10244| N339_05060| N340_04514| PAL_GLEAN10021238| PANDA_001922| S1-5| TREES_T100001963| UY3_16848| Y1Q_007684| Y956_14512| Z169_04029| efemp1

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