LMAN1

Protein ERGIC-53 also known as ER-Golgi intermediate compartment 53 kDa protein or lectin mannose-binding 1 is a protein that in humans is encoded by the LMAN1 gene.^[5][6][7]

LMAN1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3A4U, 3LCP, 3WHT, 3WHU, 3WNX, 4GKX, 4GKY, 4YGC, 4YGD, 4YGE, 4YGB
Identifiers
Aliases	LMAN1, ERGIC-53, ERGIC53, F5F8D, FMFD1, MCFD1, MR60, gp58, lectin, mannose binding 1
External IDs	OMIM: 601567; MGI: 1917611; HomoloGene: 4070; GeneCards: LMAN1; OMA:LMAN1 - orthologs
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18q21.32 Start 59,327,823 bp[1] End 59,359,265 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 E1 Start 66,113,809 bp[2] End 66,155,651 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in germinal epithelium jejunal mucosa gingival epithelium corpus epididymis caput epididymis epithelium of nasopharynx secondary oocyte tibia cardia seminal vesicula Top expressed in lacrimal gland calvaria salivary gland islet of Langerhans seminal vesicula submandibular gland retinal pigment epithelium ciliary body parotid gland human fetus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function unfolded protein binding metal ion binding protein binding mannose binding carbohydrate binding Cellular component integral component of membrane Golgi apparatus Golgi membrane sarcomere host cell perinuclear region of cytoplasm endoplasmic reticulum ER to Golgi transport vesicle membrane extracellular exosome endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment membrane endoplasmic reticulum-Golgi intermediate compartment membrane COPII-coated ER to Golgi transport vesicle Biological process Golgi organization early endosome to Golgi transport blood coagulation positive regulation of organelle organization protein N-linked glycosylation via asparagine COPII vesicle coating protein exit from endoplasmic reticulum protein folding protein transport vesicle-mediated transport endoplasmic reticulum to Golgi vesicle-mediated transport endoplasmic reticulum organization transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3998 70361 Ensembl ENSG00000074695 ENSMUSG00000041891 UniProt P49257 Q9D0F3 RefSeq (mRNA) NM_005570 NM_001172062 NM_027400 RefSeq (protein) NP_005561 NP_001165533 NP_081676 Location (UCSC) Chr 18: 59.33 – 59.36 Mb Chr 18: 66.11 – 66.16 Mb PubMed search [3] [4]
Wikidata
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Function

ERGIC-53 (also named LMAN1) is a type I integral membrane protein localized in the intermediate region (ERGIC) 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 deficiency of factor V-factor VIII, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished.^[8][7] MCFD2 is the second gene that leads to combined deficiency of factor V-factor VIII.^[9] ERGIC-53 and MCFD2 form a protein complex and serve as a cargo receptor to transport FV and FVIII from the ER to the ERGIC and then the Golgi,^[10]as illustrated here.^[8]

Clinical significance

LMAN1 mutational inactivation is a frequent and early event potentially contributing to colorectal tumorigenesis.^[11]