LMAN1

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Lectin, mannose-binding, 1
Protein LMAN1 PDB 1r1z.png
PDB rendering based on 1r1z.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols LMAN1 ; ERGIC-53; ERGIC53; F5F8D; FMFD1; MCFD1; MR60; gp58
External IDs OMIM601567 MGI1917611 HomoloGene4070 GeneCards: LMAN1 Gene
RNA expression pattern
PBB GE LMAN1 203293 s at tn.png
PBB GE LMAN1 203294 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 3998 70361
Ensembl ENSG00000074695 ENSMUSG00000041891
UniProt P49257 Q9D0F3
RefSeq (mRNA) NM_005570 NM_001172062
RefSeq (protein) NP_005561 NP_001165533
Location (UCSC) Chr 18:
59.33 – 59.36 Mb
Chr 18:
65.98 – 66.02 Mb
PubMed search [1] [2]

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[edit]

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.[3] MCFD2 is the second gene that leads to combined deficiency of factor V-factor VIII.[4] 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.[5]

Clinical significance[edit]

LMAN1 mutational inactivation is a frequent and early event potentially contributing to colorectal tumorigenesis.[6]

References[edit]

  1. ^ 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". Cell 93 (1): 61–70. doi:10.1016/S0092-8674(00)81146-0. PMID 9546392. 
  2. ^ 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 Genome 7 (10): 791–2. doi:10.1007/s003359900238. PMID 8854877. 
  3. ^ a b "Entrez Gene: LMAN1 lectin, mannose-binding, 1". 
  4. ^ 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 Genet 34 (2): 220–5. doi:10.1038/ng1153. PMID 12717434. 
  5. ^ 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. PMID 15886209. 
  6. ^ 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. PMID 19118014. 

Further reading[edit]

  • Botos I, Wlodawer A (2005). "Proteins that bind high-mannose sugars of the HIV envelope". Prog. Biophys. Mol. Biol. 88 (2): 233–82. doi:10.1016/j.pbiomolbio.2004.05.001. PMID 15572157. 
  • 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. PMID 7876089. 
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
  • Fiedler K, Simons K (1994). "A putative novel class of animal lectins in the secretory pathway homologous to leguminous lectins". Cell 77 (5): 625–6. doi:10.1016/0092-8674(94)90047-7. PMID 8205612. 
  • Schindler R, Itin C, Zerial M et al. (1993). "ERGIC-53, a membrane protein of the ER-Golgi intermediate compartment, carries an ER retention motif". Eur. J. Cell Biol. 61 (1): 1–9. PMID 8223692. 
  • Haurum JS, Thiel S, Jones IM et al. (1994). "Complement activation upon binding of mannan-binding protein to HIV envelope glycoproteins". AIDS 7 (10): 1307–13. doi:10.1097/00002030-199310000-00002. PMID 8267903. 
  • Senaldi G, Davies ET, Mahalingam M et al. (1996). "Circulating levels of mannose binding protein in human immunodeficiency virus infection". J. Infect. 31 (2): 145–8. doi:10.1016/S0163-4453(95)92185-0. PMID 8666845. 
  • Neerman-Arbez M, Antonarakis SE, Blouin JL et al. (1997). "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. doi:10.1086/513897. PMC 1715850. PMID 9245995. 
  • 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". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
  • 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". Blood 93 (7): 2261–6. PMID 10090935. 
  • 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. PMID 10725420. 
  • Harris RA, Yang A, Stein RC et al. (2002). "Cluster analysis of an extensive human breast cancer cell line protein expression map database". Proteomics 2 (2): 212–23. doi:10.1002/1615-9861(200202)2:2<212::AID-PROT212>3.0.CO;2-H. PMID 11840567. 
  • 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. PMID 12175909. 
  • Strausberg RL, Feingold EA, Grouse LH et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. 
  • 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. Retroviruses 18 (17): 1311–7. doi:10.1089/088922202320886352. PMID 12487819. 
  • 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. PMID 12560567. 
  • 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. PMID 12665801. 
  • 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. PMID 12672193.