| Gene Information | |
|---|---|
| Gene Name | EFEMP1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 493 |
| Protein Names | EGF-containing fibulin-like extracellular matrix protein 1 (Extracellular protein S1-5) (Fibrillin-like protein) (Fibulin-3) (FIBL-3) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000115380 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | Q12805 |
| Gene Card | EFEMP1 |
| Uniprot ID | Q12805 |
| Pfam | PF12662; PF07645 |
| In ASD | no |
| Allosteric Prediction | no (-0.398070334) |
| Ortholog in Animals | Alpaca_ EFEMP1 ( ortholog_one2one ) Dog_ EFEMP1 ( ortholog_one2one ) GuineaPig_ EFEMP1 ( ortholog_one2one ) Macaque_ EFEMP1 ( ortholog_one2one ) Mouse_ Efemp1 ( ortholog_one2one ) Pig_ EFEMP1 ( ortholog_one2one ) Rat_ Efemp1 ( ortholog_one2one ) Rabbit_ EFEMP1 ( ortholog_one2one ) |
| Ohnologs | FBLN5, EFEMP2 |
| Paralogs | VWDE, FBLN1, FBLN5, FBLN2, EFEMP2, EYS |
| Tissue | NA |
| 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:0000269|PubMed:12242346, ECO:0000269|PubMed:20005202}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | NA |
| DBSNP | rs748965004 rs121434491 |
| Subcellular location [CC] | Secreted, extracellular space {ECO:0000250}. Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Localizes to the lamina propria underneath the olfactory epithelium. {ECO:0000250}. |
| Mouse PG classification | NA |
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