LMAN1

From Wikipedia, the free encyclopedia

Lectin, mannose-binding, 1

PDB rendering based on 1r1z.

Available structures: 1r1z

Identifiers

Symbol(s)

LMAN1; ERGIC-53; ERGIC53; F5F8D; FMFD1; MCFD1; MR60; gp58

External IDs

OMIM: 601567 MGI: 1917611 HomoloGene: 4070

Gene ontology
Molecular Function:	• sugar binding • mannose binding • unfolded protein binding
Cellular Component:	• Golgi membrane • endoplasmic reticulum • endoplasmic reticulum membrane • ER-Golgi intermediate compartment • Golgi apparatus • membrane • integral to membrane • sarcomere
Biological Process:	• protein folding • ER to Golgi vesicle-mediated transport • blood coagulation • protein transport

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_005570 (mRNA)
NP_005561 (protein)

NM_027400 (mRNA)
NP_081676 (protein)

Location

Chr 18: 55.15 - 55.18 Mb

Chr 18: 66.11 - 66.13 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: LMAN1 lectin, mannose-binding, 1.

[edit] 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.