MGP Database

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MGP001827

UniProt Annotations

Entry Information
Gene Namelectin, mannose-binding, 1
Protein EntryLMAN1_HUMAN
UniProt IDP49257
SpeciesHuman
Comments
Comment typeDescription
DiseaseFactor V and factor VIII combined deficiency 1 (F5F8D1) [MIM:227300]: A 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. {ECO:0000269|PubMed:10090935, ECO:0000269|PubMed:19787799}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe 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.
FunctionMannose-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. {ECO:0000269|PubMed:12717434, ECO:0000269|PubMed:13130098}.
InteractionQ9BS26:ERP44; NbExp=3; IntAct=EBI-1057738, EBI-541644; O15260:SURF4; NbExp=3; IntAct=EBI-1057738, EBI-1044848;
Mass SpectrometryMass=54222.91; Method=MALDI; Range=31-510; Evidence={ECO:0000269|PubMed:11840567};
PtmThe N-terminal may be partly blocked.
SimilarityContains 1 L-type lectin-like domain. {ECO:0000255|PROSITE-ProRule:PRU00658}.
Subcellular LocationEndoplasmic 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.
SubunitExists both as a covalent disulfide-linked homohexamer, and a complex of three disulfide-linked dimers non-covalently kept together. Interacts with MCFD2. May interact with TMEM115. {ECO:0000269|PubMed:12717434, ECO:0000269|PubMed:13130098, ECO:0000269|PubMed:16257008, ECO:0000269|PubMed:19787799, ECO:0000269|PubMed:20138881, ECO:0000269|PubMed:20142513, ECO:0000269|PubMed:24806965}.
Tissue SpecificityUbiquitous. {ECO:0000269|PubMed:13130098}.
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