Gene
emilin1a
- ID
- ZDB-GENE-041001-191
- Name
- elastin microfibril interfacer 1a
- Symbol
- emilin1a Nomenclature History
- Previous Names
-
- im:7159005
- si:dkey-20n10.2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Involved in hemopoiesis. Predicted to localize to collagen trimer and extracellular region. Is expressed in several structures, including cardiovascular system; midbrain neural keel; midbrain neural rod; nervous system; and pronephros. Orthologous to human EMILIN1 (elastin microfibril interfacer 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7159005 (40 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant distal hereditary motor neuronopathy 10 | Alliance | Neuronopathy, distal hereditary motor, autosomal dominant 10 | 620080 |
| Arterial tortuosity-bone fragility syndrome | 620908 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | C1q domain | Collagen/C1q domain-containing | Collagen triple helix repeat | EMI domain | Tumour necrosis factor-like domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:F1QC17
|
1014 | |||||
|
UniProtKB:Q5TZ63
|
1008 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
emilin1a-201
(1)
|
Ensembl | 3,027 nt | ||
| mRNA |
emilin1a-202
(1)
|
Ensembl | 3,882 nt |
Interactions and Pathways
No data available
Plasmids
No data available