| Gene Information | |
|---|---|
| Gene Name | EMILIN1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1016 |
| Protein Names | EMILIN-1 (Elastin microfibril interface-located protein 1) (Elastin microfibril interfacer 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000138080 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | Q9Y6C2 |
| Gene Card | EMILIN1 |
| Uniprot ID | Q9Y6C2 |
| Pfam | PF00386; PF01391; PF07546 |
| In ASD | no |
| Allosteric Prediction | no (-1.515576289) |
| Ortholog in Animals | Alpaca_ EMILIN1 ( ortholog_one2one ) Dog_ EMILIN1 ( ortholog_one2one ) GuineaPig_ EMILIN1 ( ortholog_one2one ) Macaque_ EMILIN1 ( ortholog_one2one ) Mouse_ Emilin1 ( ortholog_one2one ) Pig_ EMILIN1 ( ortholog_one2one ) Rat_ Emilin1 ( ortholog_one2one ) Rabbit_ EMILIN1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | EMILIN3, EMILIN2, MMRN1, MMRN2 |
| Tissue | NA |
| Tissue Specificity | Distributed in tissues where resilience and elastic recoil are prominent. Highest levels in the adult small intestine, aorta, lung, uterus, and appendix and in the fetal spleen, kidney, lung, and heart; intermediate expression was detected in adult liver, ovary, colon, stomach, lymph node and spleen; adult heart, bladder, prostate, adrenal gland, mammary gland, placenta and kidney showed low expression whereas a series of other adult tissues, including skeletal muscle and different regions of adult brain show no expression. {ECO:0000269|PubMed:11278945}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.003490(Rat);0.05(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
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| PDB | 2KA3 (NMR - ) 2OII (NMR - ) |
| DBSNP | rs753862645 rs2736976 rs36069611 rs36045790 |
| Subcellular location [CC] | Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:26462740}. Note=Found mainly at the interface between amorphous elastin and microfibrils. {ECO:0000303|PubMed:10625608}. |
| Mouse PG classification | NA |
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