ID:LMAN1_HUMAN DESCRIPTION: RecName: Full=Protein ERGIC-53; AltName: Full=ER-Golgi intermediate compartment 53 kDa protein; AltName: Full=Gp58; AltName: Full=Intracellular mannose-specific lectin MR60; AltName: Full=Lectin mannose-binding 1; Flags: Precursor; FUNCTION: Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. SUBUNIT: Exists both as a covalent disulfide-linked homohexamer, and a complex of three disulfide-linked dimers non-covalently kept together. Interacts with MCFD2. INTERACTION: O15260:SURF4; NbExp=3; IntAct=EBI-1057738, EBI-1044848; SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Ubiquitous. DOMAIN: The FF ER export motif at the C-terminus is not sufficient to support endoplasmic reticulum exit, and needs assistance of Gln-501 for proper recognition of COPII coat components. PTM: The N-terminal may be partly blocked. MASS SPECTROMETRY: Mass=54222.91; Method=MALDI; Range=31-510; Source=PubMed:11840567; DISEASE: Defects in LMAN1 are THE cause of factor V and factor VIII combined deficiency type 1 (F5F8D1) [MIM:227300]; also known as multiple coagulation factor deficiency I (MCFD1). F5F8D1 is an autosomal recessive blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. SIMILARITY: Contains 1 L-type lectin-like domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P49257
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006457 protein folding GO:0006888 ER to Golgi vesicle-mediated transport GO:0007029 endoplasmic reticulum organization GO:0007030 Golgi organization GO:0007596 blood coagulation GO:0010638 positive regulation of organelle organization GO:0015031 protein transport GO:0016192 vesicle-mediated transport GO:0048208 COPII vesicle coating GO:1903215 negative regulation of protein targeting to mitochondrion GO:0032527 protein exit from endoplasmic reticulum GO:0034498 early endosome to Golgi transport
Cellular Component: GO:0000139 Golgi membrane GO:0005783 endoplasmic reticulum GO:0005789 endoplasmic reticulum membrane GO:0005793 endoplasmic reticulum-Golgi intermediate compartment GO:0005794 Golgi apparatus GO:0012507 ER to Golgi transport vesicle membrane GO:0016020 membrane GO:0016021 integral component of membrane GO:0030017 sarcomere GO:0030134 ER to Golgi transport vesicle GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0044220 host cell perinuclear region of cytoplasm GO:0070062 extracellular exosome
Protein P49257 (Reactome details) participates in the following event(s):
R-HSA-5694431 Hexameric LMAN1:MCFD2 bind glycosylated Factor V and VIII precursors R-HSA-947991 Transport of glycoproteins with Man8 (or Man9) N-glycans to the Golgi R-HSA-5694428 LMAN family proteins bind glycosylated cargo R-HSA-5694522 Inner coat assembly and cargo binding R-HSA-5694527 Loss of SAR1B GTPase R-HSA-5694446 BET1:GOSR2:STX5 bind v-SNARES on tethered vesicle R-HSA-5694441 CSNK1D phosphorylates SEC23 R-HSA-5694439 COPII coat binds TRAPPCII and RAB1:GDP R-HSA-203973 Vesicle budding R-HSA-5694417 SEC16 complex binds SAR1B:GTP:SEC23:SEC24 R-HSA-5694418 RAB1:GTP binds USO1 and GORASP1:GOLGA2 R-HSA-5694409 Nucleotide exchange on RAB1 R-HSA-204008 SEC31:SEC13 and v-SNARE recruitment R-HSA-5694530 Cargo concentration in the ER R-HSA-948021 Transport to the Golgi and subsequent modification R-HSA-199977 ER to Golgi Anterograde Transport R-HSA-446203 Asparagine N-linked glycosylation R-HSA-204005 COPII-mediated vesicle transport R-HSA-199991 Membrane Trafficking R-HSA-597592 Post-translational protein modification R-HSA-5653656 Vesicle-mediated transport R-HSA-392499 Metabolism of proteins
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Common Gene Haplotype Alleles 
