LMAN1

LMAN1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesLMAN1, ERGIC-53, ERGIC53, F5F8D, FMFD1, MCFD1, MR60, gp58, lectin, mannose binding 1
External IDsMGI: 1917611 HomoloGene: 4070 GeneCards: LMAN1
RNA expression pattern


More reference expression data
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: 65.98 – 66.02 Mb
PubMed search[1][2]
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.[3][4][5]

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.[6][5] MCFD2 is the second gene that leads to combined deficiency of factor V-factor VIII.[7] 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,[8]as illustrated here.[6]

Clinical significance

LMAN1 mutational inactivation is a frequent and early event potentially contributing to colorectal tumorigenesis.[9]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ 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. PMID 9546392. doi:10.1016/S0092-8674(00)81146-0.
  4. ↑ 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. PMID 8854877. doi:10.1007/s003359900238.
  5. 1 2 "Entrez Gene: LMAN1 lectin, mannose-binding, 1".
  6. 1 2 Khoriaty R, Vasievich MP, Ginsburg D., Blood. 2012 Jul 5;120(1):31-8. doi: 10.1182/blood-2012-01-292086. "The COPII pathway and hematologic disease.". www.bloodjournal.org. American Society of Hematology. Retrieved 7 April 2017.
  7. ↑ 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. PMID 12717434. doi:10.1038/ng1153.
  8. ↑ 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. PMID 15886209. doi:10.1074/jbc.M502160200.
  9. ↑ 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. PMID 19118014. doi:10.1158/0008-5472.CAN-08-3314.

Further reading


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