LMAN1 Antibody

1. Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2 PMID: 29082580
2. 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. PMID: 28097447
3. Mannan-binding lectin reduces CpG DNA-induced inflammatory cytokine production in monocytes. PMID: 25664598
4. MMP-9 secretion was reduced in the LMAN1 knockout cell line compared to control cells confirming the functional role of LMAN1. PMID: 26150355
5. 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. PMID: 24237698
6. Studies indicate that the LMAN1-CRD contains distinct, separable binding sites for both its partner protein MCFD2 and the cargo proteins FV/FVIII. PMID: 23852824
7. Data indicate that together with its soluble coreceptor MCFD2, LMAN1 transports coagulation factors V (FV) and VIII (FVIII). PMID: 23709226
8. Mutations in LMAN1 lead to F5F8D (combined deficiency of factor V And factor VIII) due to alterations in LMAN1-MCFD2 complex of coat protein (COP)II complex trafficking machinery; 70% of F5F8D patients have mutations in LMAN1. [REVIEW] PMID: 22764119
9. UBXD1 modulates the trafficking of ERGIC-53-containing vesicles by controlling the interaction of transport factors with the cytoplasmic tail of ERGIC-53. PMID: 22337587
10. Two new mutations at ERGIC-53 gene in a Turkish family. PMID: 20460353
11. Data present the crystal structure of the LMAN1/MCFD2 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 protein. PMID: 20138881
12. Data show that mutations in MCFD2 that disrupt the tertiary structure and abolish LMAN1 binding still retain the FV/FVIII binding activities, suggesting that this interaction is independent of Ca(2+)-induced folding of the protein. PMID: 20007547
13. Among Papua New Guinea malaria patients, 2 new mannose-binding lectin polymorphic promoter sites were found: one in the untranslated region at position +1 (G-->A, termed R/S), and the 2nd upstream of the gene at position -4 (G-->A, termed T/U). PMID: 12175909
14. MBL deficiency is not a risk factor for SLE in women from the Canary Islands, but it is associated with lower prevalence of autoantibodies and with later age at disease onset and at SLE diagnosis. PMID: 12672193
15. inactivating mutations in MCFD2 cause combined deficiency of factor V and factor VIII with a phenotype indistinguishable from that caused by mutations in LMAN1 PMID: 12717434
16. Data show that the mRNA of lectin ERGIC-53 and its related protein VIP36 is induced by the known inducers of endoplasmic reticulum stress, tunicamycin and thapsigargin. PMID: 12727195
17. an interaction between LMAN1 and FVIII in vivo was mediated via high mannose-containing asparagine-linked oligosaccharides that are densely situated within the B domain of FVIII, as well as protein-protein interactions PMID: 14629470
18. Results describe the x-ray structure of human mannan-binding lectin-associated protein 19 (MAp19), and identify the residues involved in the interaction of MAp19 with mannan-binding lectin and L-ficolin. PMID: 15117939
19. surfactant proteins A and D and mannose-binding lectin play roles in inflammation caused by DNA in lungs and other tissues PMID: 15145932
20. ERGIC-53 and MCFD2 have important functions during cellular response to stress conditions PMID: 15292203
21. The ERGIC-53 is stationary and not simply a collection of mobile carriers that mediate protein traffic from endoplasmic reticulum to Golgi. PMID: 15632110
22. MBL gene polymorphism at codon 54 is not associated with the clearance of hepatitis B virus infection nor progression of disease in chronic hepatitis B virus infection PMID: 15716605
23. MBL1 contains 9 disulfide-linked chains and is therefore trimeric in structure; the oligomerization state of MBL has a direct effect on its carbohydrate-binding properties, but no influence on the interaction with MBL-associated serine proteases (MASPs). PMID: 15728497
24. LMAN1 and MCFD2 form a cargo receptor complex and the primary sorting signals residing in the B domain direct the binding of factor VIII PMID: 15886209
25. Mutations in (LMAN1) and (MCFD2), have been found to be responsible for the dual deficiency of FV and FVIII. PMID: 16044454
26. ERGIC-53 accumulated at the perinuclear region, and remained there even after cells were treated with agents that induce redistribution of Golgi proteins to the ER, indicating an inhibition of Golgi-to-ER transport of ERGIC-53. PMID: 16054885
27. role in Aspergillus mediated allergies and infections PMID: 16114131
28. ERGIC-53 is present exclusively as a hexameric complex in cells PMID: 16257008
29. Mannan-binding lectin activates C3 and the alternative complement pathway without involvement of C2 PMID: 16670774
30. Our findings identify a novel ERGIC-53 substrate, and indicate that interactions with light chains or ERGIC-53 seed muDeltaCH1 condensation in different stations of the early secretory pathway. PMID: 16735443
31. Here, we have observed that NCT N-linked oligosaccharides mediated specific interactions with the secretory pathway lectins calnexin and ERGIC-53 PMID: 16938437
32. Results indicate that ERGIC-53 can bind cargo glycoproteins in an MCFD2-independent fashion and suggest that MCFD2 is a recruitment factor for blood coagulation factors V and VIII. PMID: 17010120
33. a mannose-binding lectin codon 54 gene polymorphism has a role in protection against Chlamydia trachomatis infection and Fallopian tube damage PMID: 17496053
34. ERGIC-53 gene transcription is regulated in response to endoplasmic reticulum stress PMID: 17535801
35. ERGIC-53 bound high-mannose-type oligosaccharides with low affinity and broad specificity, not discriminating between monoglucosylated and deglucosylated high-mannosetype oligosaccharides. PMID: 18025080
36. Silencing Surf4 together with ERGIC-53 or silencing the p24 family member p25 induced an identical phenotype characterized by a reduced number of ERGIC clusters and fragmentation of the Golgi apparatus without effect on anterograde transport. PMID: 18287528
37. MCFD2 may play a primary role in the export of FV and FVIII from the ER, with the impact of LMAN1 mediated indirectly through its interaction with MCFD2 PMID: 18391077
38. Study shows that SUMF1 interacts with protein disulfide isomerase (PDI) and ERp44, two thioredoxin family members residing in the early secretory pathway, and with ERGIC-53, a lectin that shuttles between the ER and the Golgi. PMID: 18508857
39. Data suggest that transient dimerization is an obligatory step in FGFR3 biosynthesis and that TDII/ERGIC-53 complex formation may function as a checkpoint for FGFR3 sorting downstream the endoplasmic reticulum. PMID: 18577465
40. LMAN1 mutational inactivation is a frequent and early event potentially contributing to colorectal tumorigenesis. PMID: 19118014
41. MBL deposition and gene expression in advanced human atherosclerotic lesions revealed the presence of MBL protein in ruptured but not stable atherosclerotic lesions PMID: 19380618
42. Observational study of gene-gene interaction. (HuGE Navigator) PMID: 11333866

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HGNC: 6631

OMIM: 227300

KEGG: hsa:3998

STRING: 9606.ENSP00000251047

UniGene: Hs.465295