| http://purl.uniprot.org/citations/21795745 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21795745 | http://www.w3.org/2000/01/rdf-schema#comment | "The type 1-transmembrane protein LMAN1 (ERGIC-53) forms a complex with the soluble protein MCFD2 and cycles between the endoplasmic reticulum (ER) and the ER-Golgi intermediate compartment (ERGIC). Mutations in either LMAN1 or MCFD2 cause the combined deficiency of factor V (FV) and factor VIII (FVIII; F5F8D), suggesting an ER-to-Golgi cargo receptor function for the LMAN1-MCFD2 complex. Here we report the analysis of LMAN1-deficient mice. Levels of plasma FV and FVIII, and platelet FV, are all reduced to ∼ 50% of wild-type in Lman1(-/-) mice, compared with the 5%-30% levels typically observed in human F5F8D patients. Despite previous reports identifying cathepsin C, cathepsin Z, and α1-antitrypsin as additional potential cargoes for LMAN1, no differences were observed between wild-type and Lman1(-/-) mice in the levels of cathepsin C and cathepsin Z in liver lysates or α1-antitrypsin levels in plasma. LMAN1 deficiency had no apparent effect on COPII-coated vesicle formation in an in vitro assay. However, the ER in Lman1(-/-) hepatocytes is slightly distended, with significant accumulation of α1-antitrypsin and GRP78. An unexpected, partially penetrant, perinatal lethality was observed for Lman1(-/-) mice, dependent on the specific inbred strain genetic background, suggesting a potential role for other, as yet unidentified LMAN1-dependent cargo proteins."xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2011-05-352815"xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/author | "Kim J."xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/author | "Tao J."xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/author | "Zheng C."xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/author | "Zhang B."xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/author | "Zhu M."xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/author | "Ginsburg D."xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/author | "Kaufman R.J."xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/author | "Schekman R."xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/author | "Baines A."xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/author | "Vasievich M.P."xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/pages | "3384-3391"xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/title | "Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of alpha1-antitrypsin."xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://purl.uniprot.org/core/volume | "118"xsd:string |
| http://purl.uniprot.org/citations/21795745 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/21795745 |
| http://purl.uniprot.org/citations/21795745 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/21795745 |
| http://purl.uniprot.org/uniprot/Q9D0F3#attribution-D6C87C26F03BA0C3084A9B779C02EE43 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/21795745 |
| http://purl.uniprot.org/uniprot/Q9CY50#attribution-B551E560A5B317F6F07E07FE194EDFBD | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/21795745 |
| http://purl.uniprot.org/uniprot/E9PVZ8#attribution-B551E560A5B317F6F07E07FE194EDFBD | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/21795745 |
| http://purl.uniprot.org/uniprot/E9QAH1#attribution-B551E560A5B317F6F07E07FE194EDFBD | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/21795745 |
| http://purl.uniprot.org/uniprot/Q8CGE5#attribution-B551E560A5B317F6F07E07FE194EDFBD | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/21795745 |