Aliases for LMAN1 Gene
External Ids for LMAN1 Gene
Previous HGNC Symbols for LMAN1 Gene
Previous GeneCards Identifiers for LMAN1 Gene
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]
GeneCards Summary for LMAN1 Gene
LMAN1 (Lectin, Mannose Binding 1) is a Protein Coding gene. Diseases associated with LMAN1 include combined factor v and viii deficiency and factor v and factor viii, combined deficiency of. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. GO annotations related to this gene include unfolded protein binding and mannose binding. An important paralog of this gene is LMAN2.
UniProtKB/Swiss-Prot for LMAN1 Gene
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.