LMAN1

The FF ER export motif at the C-terminus is not sufficient to support endoplasmic reticulum exit, and needs assistance of Gln-501 for proper recognition of COPII coat components.

Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins.

Factor V and factor VIII combined deficiency 1

F5F8D1

A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal.

None

The disease is caused by variants affecting the gene represented in this entry.

The N-terminal may be partly blocked.

Ubiquitous.

• Endoplasmic reticulum-Golgi intermediate compartment membrane
• Single-pass type I membrane protein
• Golgi apparatus membrane
• Single-pass membrane protein
• Endoplasmic reticulum membrane
• Single-pass type I membrane protein

ERGIC53, F5F8D, LMAN1, Protein ERGIC-53, ER-Golgi intermediate compartment 53 kDa protein, Gp58, Intracellular mannose-specific lectin MR60, Lectin mannose-binding 1

• entrezGene:3998
• omim:601567
• swissprot:P49257

Proteins

Immunology & Infectious Disease

57549Da