LMAN1: Difference between revisions

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Template:PBB Protein ERGIC-53 is a protein that in humans is encoded by the LMAN1 gene.^[1]^[2]^[3] [[ Template:PBB Summary

References

^ Nichols WC, Seligsohn U, Zivelin A, Terry VH, Hertel CE, Wheatley MA, Moussalli MJ, Hauri HP, Ciavarella N, Kaufman RJ, Ginsburg D (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. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
^ Arar C, Mignon C, Mattei M, Monsigny M, Roche A, Legrand A (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. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
^ "Entrez Gene: LMAN1 lectin, mannose-binding, 1".

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-| summary_text = 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. 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.<ref name="entrez">{{cite web | title = Entrez Gene: LMAN1 lectin, mannose-binding, 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3998| accessdate = }}</ref> MCFD2 [[http://en.wikipedia.org/wiki/MCFD2]] is the second gene that leads to combined deficiency of factor V-factor VIII.<ref name="pmid12717434">{{cite journal | author = 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 | title = Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex | journal = Nat Genet | volume = 34 | issue = 2 | pages = 220–5 | year = 2003 | month = May | pmid = 12717434 | pmc =  | doi = 10.1038/ng1153 }}</ref> 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.
+| summary_text = 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. 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.<ref name="entrez">{{cite web | title = Entrez Gene: LMAN1 lectin, mannose-binding, 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3998| accessdate = }}</ref> MCFD2 [[http://en.wikipedia.org/wiki/MCFD2]] is the second gene that leads to combined deficiency of factor V-factor VIII.<ref name="pmid12717434">{{cite journal | author = 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 | title = Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex | journal = Nat Genet | volume = 34 | issue = 2 | pages = 220–5 | year = 2003 | month = May | pmid = 12717434 | pmc =  | doi = 10.1038/ng1153 }}</ref> 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.<ref name="pmid15886209”>{{cite journal  | author=Zhang B, Kaufman RJ, Ginsburg D |title=LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway. |journal=J. Biol. Chem. |volume=280 |issue= 27 |pages= 25881–6 |year= 2005 |pmid= 15886209 |doi= 10.1074/jbc.M502160200 }}</ref>
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Revision as of 04:57, 2 January 2011

References

Further reading