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MIRAGE
elastin microfibril interfacer 1
Summary
- Gene Symbol
-
- EMILIN1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell adhesion
- Coiled coil
- Collagen
- Disease variant
- Disulfide bond
- Extracellular matrix
- Glycoprotein
- Neurodegeneration
- Neuropathy
- Proteomics identification
- Reference proteome
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9Y6C2 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| aortic valve morphogenesis | ||
| cell adhesion | ||
| cell-matrix adhesion | ||
| regulation of blood pressure | ||
| positive regulation of gene expression |
GO Hierarchy
- negative regulation of cell activation
- regulation of cell population proliferation
- negative regulation of cell activation
biological process
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
regulation of signaling [inference]
regulation of signal transduction [inference]
negative regulation of signaling [inference]
positive regulation of biological process [inference]
negative regulation of biological process [inference]
negative regulation of metabolic process [inference]
negative regulation of signaling [inference]
negative regulation of cellular process [inference]
negative regulation of cell communication [inference]
negative regulation of response to stimulus [inference]
regulation of response to stimulus [inference]
regulation of signal transduction [inference]
positive regulation of response to stimulus [inference]
negative regulation of response to stimulus [inference]
regulation of cellular response to growth factor stimulus [inference]
regulation of developmental process [inference]
regulation of cellular process [inference]
regulation of cell communication [inference]
regulation of signal transduction [inference]
negative regulation of cell communication [inference]
regulation of cellular metabolic process [inference]
negative regulation of cellular process [inference]
negative regulation of cell communication [inference]
regulation of cellular component organization [inference]
regulation of multicellular organismal process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region | ||
| collagen trimer | ||
| extracellular space | ||
| integrin alpha4-beta1 complex | ||
| collagen-containing extracellular matrix |
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular matrix structural constituent | ||
| protein binding | ||
| extracellular matrix constituent conferring elasticity | ||
| extracellular matrix constituent conferring elasticity | ||
| identical protein binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Elastin microfibril interfacer 1
- Functional Category
-
- K: Transcription
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| extracellular matrix constituent conferring elasticity |
| regulation of response to stimulus |
| InterPro |
|---|
| C1q domain |
| Collagen triple helix repeat |
| EMI domain |
| Tumour necrosis factor-like domain superfamily |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0081399 | autosomal dominant distal hereditary motor neuronopathy 10 |
