Protein ERGIC-53 (LMAN1) ELISA Kit for Human

The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII deficiency. [provided by RefSeq, Jul 2015]

LMAN1: 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. Defects in LMAN1 are THE cause of factor V and factor VIII combined deficiency type 1 (F5F8D1); also known as multiple coagulation factor deficiency I (MCFD1). F5F8D1 is an autosomal recessive 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.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 18q21.3-q22

Cellular Component: endoplasmic reticulum membrane; ER-Golgi intermediate compartment; ER-Golgi intermediate compartment membrane; Golgi membrane; integral to membrane; membrane; sarcomere

Molecular Function: mannose binding; metal ion binding; protein binding; unfolded protein binding

Biological Process: blood coagulation; cellular protein metabolic process; COPII coating of Golgi vesicle; endoplasmic reticulum organization and biogenesis; ER to Golgi vesicle-mediated transport; Golgi organization and biogenesis; post-translational protein modification; protein amino acid N-linked glycosylation via asparagine; protein exit from endoplasmic reticulum; protein folding

Disease: Factor V And Factor Viii, Combined Deficiency Of, 1