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The protein encoded by LMAN1 is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments.
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Genetic variants in the exon1 of MBL gene per se are not risk factors for Systemic lupus erythematosus (SLE) in South Indian Tamils. However, the association of codon 54 (rs1800450) with medium vessel vasculitis suggests that it may be a genetic modifier of clinical phenotype in SLE.
Mannan-binding lectin (zeige MBL2 ELISA Kits) reduces CpG DNA-induced inflammatory cytokine production in monocytes.
MMP-9 (zeige MMP9 ELISA Kits) secretion was reduced in the LMAN1 knockout cell line compared to control cells confirming the functional role of LMAN1.
Authors identified a class of pathogen-derived ERGIC-53 ligands, a lectin-independent basis for their association with ERGIC-53, and a role for ERGIC-53 in the propagation of several highly pathogenic RNA virus families.
Studies indicate that the LMAN1-CRD contains distinct, separable binding sites for both its partner protein MCFD2 (zeige MCFD2 ELISA Kits) and the cargo proteins FV/FVIII (zeige F8 ELISA Kits).
Data indicate that together with its soluble coreceptor MCFD2 (zeige MCFD2 ELISA Kits), LMAN1 transports coagulation factors V (FV) and VIII (FVIII (zeige F8 ELISA Kits)).
Mutations in LMAN1 lead to F5F8D (combined deficiency of factor V And factor VIII) due to alterations in LMAN1-MCFD2 (zeige MCFD2 ELISA Kits) complex of coat protein (zeige GOLPH3 ELISA Kits) (COP)II complex trafficking machinery; 70% of F5F8D patients have mutations in LMAN1. [REVIEW]
UBXD1 modulates the trafficking of ERGIC-53-containing vesicles by controlling the interaction of transport factors with the cytoplasmic tail of ERGIC-53.
Two new mutations at ERGIC-53 gene in a Turkish family.
Data present the crystal structure of the LMAN1/MCFD2 (zeige MCFD2 ELISA Kits) complex and relate it to patient mutations. Circular dichroism data show that the majority of the substitution mutations give rise to a disordered or severely destabilized MCFD2 (zeige MCFD2 ELISA Kits) protein.
LMAN1 may play a role in photoreceptor gene transport and homeostasis.
Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of alpha1-antitrypsin.
surfactant proteins A and D and mannose-binding lectin (zeige MBL2 ELISA Kits) play roles in inflammation caused by DNA in lungs and other tissues
ERGIC-53 gene transcription is regulated in response to endoplasmic reticulum stress
The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region 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 factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished.
ER-Golgi intermediate compartment 53 kDa protein
, endoplasmic reticulum-golgi intermediate compartment protein 53
, intracellular mannose specific lectin
, intracellular mannose-specific lectin MR60
, protein ERGIC-53
, lectin, mannose-binding, 1
, lectin mannose-binding 1
, protein ERGIC-53-like
, ERGIC-53 protein
, intracellular mannose specific lectin MR60
, LOW QUALITY PROTEIN: protein ERGIC-53