Lectin, Mannose Binding 1 (LMAN1)

F5F8D; FMFD1; MCFD1; MR60; Gp58; Protein ERGIC-53; Coagulation Factor V-Factor VIII Combined Deficiency; Endoplasmic Reticulum-Golgi Intermediate Compartment Protein 53

SPN	U282
HGNC	6631
MGI	1917611
PubMed	14629470
RGD	71020
UniProt	P49257
Wiki	LMAN1

Protein ERGIC-53 isa 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.

Reference

"ERGIC-53, a membrane protein of the ER-Golgi intermediate compartment, carries an ER retention motif."
Eur. J. Cell Biol. 61:1-9(1993) [PubMed] [Europe PMC] [Abstract]

"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. 270:3551-3553(1995) [PubMed] [Europe PMC] [Abstract]

"ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families."
Blood 93:2261-2266(1999) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."
Nat. Biotechnol. 21:566-569(2003) [PubMed] [Europe PMC] [Abstract]

"A putative novel class of animal lectins in the secretory pathway homologous to leguminous lectins."
Cell 77:625-626(1994) [PubMed] [Europe PMC] [Abstract]

"Cluster analysis of an extensive human breast cancer cell line protein expression map database."
Proteomics 2:212-223(2002) [PubMed] [Europe PMC] [Abstract]

"ER export of ERGIC-53 is controlled by cooperation of targeting determinants in all three of its domains."
J. Cell Sci. 116:4429-4440(2003) [PubMed] [Europe PMC] [Abstract]

"Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex."
Nat. Genet. 34:220-225(2003) [PubMed] [Europe PMC] [Abstract]

"Oligomerization and intracellular localization of the glycoprotein receptor ERGIC-53 is independent of disulfide bonds."
J. Mol. Biol. 354:556-568(2005) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"TMEM115 is an integral membrane protein of the Golgi complex involved in retrograde transport."
J. Cell Sci. 127:2825-2839(2014) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII."
FEBS Lett. 584:878-882(2010) [PubMed] [Europe PMC] [Abstract]

"Structural basis for the cooperative interplay between the two causative gene products of combined factor V and factor VIII deficiency."
Proc. Natl. Acad. Sci. U.S.A. 107:4034-4039(2010) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII."
Am. J. Hematol. 84:738-742(2009) [PubMed] [Europe PMC] [Abstract]