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MIRAGE
Collagen and calcium-binding EGF domain-containing protein 1
Summary
- UniProt ID
- Q6UXH8
- Gene Symbol
-
- CCBE1
- KIAA1983
- UNQ1921/PRO4395
- Gene ID
- 147372
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Angiogenesis
- Calcium
- Collagen
- Developmental protein
- Disease variant
- Disulfide bond
- EGF-like domain
- Intellectual disability
- Proteoglycan
- Reference proteome
- Repeat
- Secreted
- Signal
- Gene Ontology (GO)
| GO Term |
|---|
| extracellular matrix |
| collagen trimer |
| extracellular space |
| GO Term |
|---|
| calcium ion binding |
| protease binding |
| collagen binding |
Sequence
MVPPPPSRGGAARGQLGRSLGPLLLLLALGHTWTYREEPEDGDREICSESKIATTKYPCLKSSGELTTCYRKKCCKGYKFVLGQCIPEDYDVCAEAPCEQQCTDNFGRVLCTCYPGYRYDRERHRKREKPYCLDIDECASSNGTLCAHICINTLGSYRCECREGYIREDDGKTCTRGDKYPNDTGHEKSENMVKAGTCCATCKEFYQMKQTVLQLKQKIALLPNNAADLGKYITGDKVLASNTYLPGPPGLPGGQGPPGSPGPKGSPGFPGMPGPPGQPGPRGSMGPMGPSPDLSHIKQGRRGPVGPPGAPGRDGSKGERGAPGPRGSPGPPGSFDFLLLMLADIRNDITELQEKVFGHRTHSSAEEFPLPQEFPSYPEAMDLGSGDDHPRRTETRDLRAPRDFYP
Glycosylation Sites
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060366 | Hennekam syndrome |
