ERGIC-53 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. Also named LMAN1, 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 deficiency of factor V-factor VIII, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished.MCFD2 is the second gene that leads to combined deficiency of factor V-factor VIII. ERGIC-53 and MCFD2 form a protein complex and serve as a cargo receptor to transport FV and FVIII from the ER to the Golgi body.
^Nichols WC, Seligsohn U, Zivelin A, Terry VH, Hertel CE, Wheatley MA, Moussalli MJ, Hauri HP, Ciavarella N, Kaufman RJ, Ginsburg D (May 1998). "Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII". Cell93 (1): 61–70. doi:10.1016/S0092-8674(00)81146-0. PMID9546392.
^Arar C, Mignon C, Mattei M, Monsigny M, Roche A, Legrand A (Feb 1997). "Mapping of the MR60/ERGIC-53 gene to human chromosome 18q21.3-18q22 by in situ hybridization". Mamm Genome7 (10): 791–2. doi:10.1007/s003359900238. PMID8854877.
^Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D (May 2003). "Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex". Nat Genet34 (2): 220–5. doi:10.1038/ng1153. PMID12717434.
^Zhang B, Kaufman RJ, Ginsburg D (2005). "LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway". J. Biol. Chem.280 (27): 25881–6. doi:10.1074/jbc.M502160200. PMID15886209.
^Roeckel N, Woerner SM, Kloor M, Yuan YP, Patsos G, Gromes R, Kopitz J, Gebert J (January 2009). "High frequency of LMAN1 abnormalities in colorectal tumors with microsatellite instability". Cancer Res.69 (1): 292–9. doi:10.1158/0008-5472.CAN-08-3314. PMID19118014.
Arar C, Carpentier V, Le Caer JP, et al. (1995). "ERGIC-53, a membrane protein of the endoplasmic reticulum-Golgi intermediate compartment, is identical to MR60, an intracellular mannose-specific lectin of myelomonocytic cells". J. Biol. Chem.270 (8): 3551–3. doi:10.1074/jbc.270.8.3551. PMID7876089.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Nichols WC, Terry VH, Wheatley MA, et al. (1999). "ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families". Blood93 (7): 2261–6. PMID10090935.
Saifuddin M, Hart ML, Gewurz H, et al. (2000). "Interaction of mannose-binding lectin with primary isolates of human immunodeficiency virus type 1". J. Gen. Virol.81 (Pt 4): 949–55. PMID10725420.
Jüliger S, Kremsner PG, Alpers MP, et al. (2002). "Restricted polymorphisms of the mannose-binding lectin gene in a population of Papua New Guinea". Mutat. Res.505 (1–2): 87–91. doi:10.1016/S0027-5107(02)00142-2. PMID12175909.
Hart ML, Saifuddin M, Uemura K, et al. (2003). "High mannose glycans and sialic acid on gp120 regulate binding of mannose-binding lectin (MBL) to HIV type 1". AIDS Res. Hum. Retroviruses18 (17): 1311–7. doi:10.1089/088922202320886352. PMID12487819.
Hart ML, Saifuddin M, Spear GT (2003). "Glycosylation inhibitors and neuraminidase enhance human immunodeficiency virus type 1 binding and neutralization by mannose-binding lectin". J. Gen. Virol.84 (Pt 2): 353–60. doi:10.1099/vir.0.18734-0. PMID12560567.
Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol.21 (5): 566–9. doi:10.1038/nbt810. PMID12665801.
García-Laorden MI, Rúa-Figueroa I, Pérez-Aciego P, et al. (2003). "Mannose binding lectin polymorphisms as a disease-modulating factor in women with systemic lupus erythematosus from Canary Islands, Spain". J. Rheumatol.30 (4): 740–6. PMID12672193.
1r1z: The Crystal structure of the Carbohydrate recognition domain of the glycoprotein sorting receptor p58/ERGIC-53 reveals a novel metal binding site and conformational changes associated with calcium ion binding