Biology:LMAN1
 Generic protein structure example |
Protein ERGIC-53 also known as ER-Golgi intermediate compartment 53 kDa protein or lectin mannose-binding 1 is a protein that in humans is encoded by the LMAN1 gene.[1][2][3]
Function
ERGIC-53 (also named LMAN1) is a type I integral membrane protein localized in the intermediate region (ERGIC) 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 deficiency of factor V-factor VIII, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished.[4][3] MCFD2 is the second gene that leads to combined deficiency of factor V-factor VIII.[5] ERGIC-53 and MCFD2 form a protein complex and serve as a cargo receptor to transport FV and FVIII from the ER to the ERGIC and then the Golgi,[6]as illustrated here.[4]
Clinical significance
LMAN1 mutational inactivation is a frequent and early event potentially contributing to colorectal tumorigenesis.[7]
References
- ↑ "Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII". Cell 93 (1): 61–70. May 1998. doi:10.1016/S0092-8674(00)81146-0. PMID 9546392.
- ↑ "Mapping of the MR60/ERGIC-53 gene to human chromosome 18q21.3-18q22 by in situ hybridization". Mamm Genome 7 (10): 791–2. Feb 1997. doi:10.1007/s003359900238. PMID 8854877.
- ↑ 3.0 3.1 "Entrez Gene: LMAN1 lectin, mannose-binding, 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3998.
- ↑ 4.0 4.1 "The COPII pathway and hematologic disease". Blood 120 (1): 31–8. July 2012. doi:10.1182/blood-2012-01-292086. PMID 22586181.
- ↑ "Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex". Nat Genet 34 (2): 220–5. May 2003. doi:10.1038/ng1153. PMID 12717434.
- ↑ "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. 2005. doi:10.1074/jbc.M502160200. PMID 15886209.
- ↑ "High frequency of LMAN1 abnormalities in colorectal tumors with microsatellite instability". Cancer Res. 69 (1): 292–9. January 2009. doi:10.1158/0008-5472.CAN-08-3314. PMID 19118014.
Further reading
- "Proteins that bind high-mannose sugars of the HIV envelope". Prog. Biophys. Mol. Biol. 88 (2): 233–82. 2005. doi:10.1016/j.pbiomolbio.2004.05.001. PMID 15572157.
- "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. 1995. doi:10.1074/jbc.270.8.3551. PMID 7876089.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "A putative novel class of animal lectins in the secretory pathway homologous to leguminous lectins". Cell 77 (5): 625–6. 1994. doi:10.1016/0092-8674(94)90047-7. PMID 8205612.
- "ERGIC-53, a membrane protein of the ER-Golgi intermediate compartment, carries an ER retention motif". Eur. J. Cell Biol. 61 (1): 1–9. 1993. PMID 8223692.
- "Complement activation upon binding of mannan-binding protein to HIV envelope glycoproteins". AIDS 7 (10): 1307–13. 1994. doi:10.1097/00002030-199310000-00002. PMID 8267903.
- "Circulating levels of mannose binding protein in human immunodeficiency virus infection". J. Infect. 31 (2): 145–8. 1996. doi:10.1016/S0163-4453(95)92185-0. PMID 8666845.
- "The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103". Am. J. Hum. Genet. 61 (1): 143–50. 1997. doi:10.1086/513897. PMID 9245995.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families". Blood 93 (7): 2261–6. 1999. PMID 10090935.
- "Interaction of mannose-binding lectin with primary isolates of human immunodeficiency virus type 1". J. Gen. Virol. 81 (Pt 4): 949–55. 2000. doi:10.1099/0022-1317-81-4-949. PMID 10725420.
- "Cluster analysis of an extensive human breast cancer cell line protein expression map database". Proteomics 2 (2): 212–23. 2002. doi:10.1002/1615-9861(200202)2:2<212::AID-PROT212>3.0.CO;2-H. PMID 11840567.
- "Restricted polymorphisms of the mannose-binding lectin gene in a population of Papua New Guinea". Mutat. Res. 505 (1–2): 87–91. 2002. doi:10.1016/S0027-5107(02)00142-2. PMID 12175909.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "High mannose glycans and sialic acid on gp120 regulate binding of mannose-binding lectin (MBL) to HIV type 1". AIDS Res. Hum. Retroviruses 18 (17): 1311–7. 2003. doi:10.1089/088922202320886352. PMID 12487819.
- "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. 2003. doi:10.1099/vir.0.18734-0. PMID 12560567.
- "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. 2004. doi:10.1038/nbt810. PMID 12665801.
- "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. 2003. PMID 12672193.
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