LMAN1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesLMAN1, ERGIC-53, ERGIC53, F5F8D, FMFD1, MCFD1, MR60, gp58, lectin, mannose binding 1
External IDsOMIM: 601567 MGI: 1917611 HomoloGene: 4070 GeneCards: LMAN1
Orthologs
SpeciesHumanMouse
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 MbChr 18: 66.11 – 66.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

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]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000074695 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041891 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Nichols WC, Seligsohn U, Zivelin A, Terry VH, Hertel CE, Wheatley MA, Moussalli MJ, Hauri HP, Ciavarella N, Kaufman RJ, Ginsburg D (May 1998). "Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII". Cell. 93 (1): 61–70. doi:10.1016/S0092-8674(00)81146-0. PMID 9546392. S2CID 15021770.
  6. Arar C, Mignon C, Mattei M, Monsigny M, Roche A, Legrand A (Feb 1997). "Mapping of the MR60/ERGIC-53 gene to human chromosome 18q21.3-18q22 by in situ hybridization". Mamm Genome. 7 (10): 791–2. doi:10.1007/s003359900238. PMID 8854877. S2CID 19754504.
  7. 1 2 "Entrez Gene: LMAN1 lectin, mannose-binding, 1".
  8. 1 2 Khoriaty R, Vasievich MP, Ginsburg D (July 2012). "The COPII pathway and hematologic disease". Blood. 120 (1): 31–8. doi:10.1182/blood-2012-01-292086. PMC 3390960. PMID 22586181.
  9. Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D (May 2003). "Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex". Nat Genet. 34 (2): 220–5. doi:10.1038/ng1153. PMID 12717434. S2CID 19281158.
  10. Zhang B, Kaufman RJ, Ginsburg D (2005). "LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway". J. Biol. Chem. 280 (27): 25881–6. doi:10.1074/jbc.M502160200. PMID 15886209.
  11. Roeckel N, Woerner SM, Kloor M, Yuan YP, Patsos G, Gromes R, Kopitz J, Gebert J (January 2009). "High frequency of LMAN1 abnormalities in colorectal tumors with microsatellite instability". Cancer Res. 69 (1): 292–9. doi:10.1158/0008-5472.CAN-08-3314. PMID 19118014.

Further reading


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