LMAN1
Lectin, mannose-binding, 1 | |||||||||||||
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File:PBB Protein LMAN1 image.jpg PDB rendering based on 1r1z. | |||||||||||||
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Identifiers | |||||||||||||
Symbols | LMAN1 ; ERGIC-53; ERGIC53; F5F8D; FMFD1; MCFD1; MR60; gp58 | ||||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 4070 | ||||||||||||
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RNA expression pattern | |||||||||||||
File:PBB GE LMAN1 203293 s at tn.png | |||||||||||||
File:PBB GE LMAN1 203294 s at tn.png | |||||||||||||
More reference expression data | |||||||||||||
Orthologs | |||||||||||||
Template:GNF Ortholog box | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | n/a | n/a | |||||||||||
Ensembl | n/a | n/a | |||||||||||
UniProt | n/a | n/a | |||||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||||
RefSeq (protein) | n/a | n/a | |||||||||||
Location (UCSC) | n/a | n/a | |||||||||||
PubMed search | n/a | n/a |
Lectin, mannose-binding, 1, also known as LMAN1, is a human gene.[1]
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.[1]
References
Further reading
- 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. 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. 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. 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. 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. PMID 8666845.
- Arar C, Mignon C, Mattei M; et al. (1997). "Mapping of the MR60/ERGIC-53 gene to human chromosome 18q21.3-18q22 by in situ hybridization". Mamm. Genome. 7 (10): 791–2. PMID 8854877.
- 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. 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. PMID 9373149.
- Nichols WC, Seligsohn U, Zivelin A; et al. (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. PMID 9546392.
- 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. 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. 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. 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. 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.
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