Protein ERGIC-53 also known as ER-Golgi intermediate compartment 53 kDa proteinorlectin mannose-binding 1 is a protein that in humans is encoded by the LMAN1 gene.[5][6][7]
ERGIC-53 (also named LMAN1) is a type I integral membrane protein localized in the intermediate region (ERGIC) between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined deficiency of factor V-factor VIII, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished.[8][7] MCFD2 is the second gene that leads to combined deficiency of factor V-factor VIII.[9] ERGIC-53 and MCFD2 form a protein complex and serve as a cargo receptor to transport FV and FVIII from the ER to the ERGIC and then the Golgi,[10]as illustrated here.[8]
LMAN1 mutational inactivation is a frequent and early event potentially contributing to colorectal tumorigenesis.[11]
|
PDB gallery
| |
|---|---|
1r1z: The Crystal structure of the Carbohydrate recognition domain of the glycoprotein sorting receptor p58/ERGIC-53 reveals a novel metal binding site and conformational changes associated with calcium ion binding
|
|
| |||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Synaptic vesicle |
| ||||||||||||||||||||||||||
| COPI |
| ||||||||||||||||||||||||||
| COPII |
| ||||||||||||||||||||||||||
| RME/Clathrin |
| ||||||||||||||||||||||||||
| Caveolae |
| ||||||||||||||||||||||||||
| Other/ungrouped |
| ||||||||||||||||||||||||||
 | This article on a gene on human chromosome 18 is a stub. You can help Wikipedia by expanding it. |
