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{{ | '''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]].<ref name="pmid9546392">{{cite journal |vauthors=Nichols WC, Seligsohn U, Zivelin A, Terry VH, Hertel CE, Wheatley MA, Moussalli MJ, Hauri HP, Ciavarella N, Kaufman RJ, Ginsburg D | title = Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII | journal = Cell | volume = 93 | issue = 1 | pages = 61–70 |date=May 1998 | pmid = 9546392 | pmc = | doi =10.1016/S0092-8674(00)81146-0 }}</ref><ref name="pmid8854877">{{cite journal |vauthors=Arar C, Mignon C, Mattei M, Monsigny M, Roche A, Legrand A | title = Mapping of the MR60/ERGIC-53 gene to human chromosome 18q21.3-18q22 by in situ hybridization | journal = Mamm Genome | volume = 7 | issue = 10 | pages = 791–2 |date=Feb 1997 | pmid = 8854877 | pmc = | doi =10.1007/s003359900238 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: LMAN1 lectin, mannose-binding, 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3998| accessdate = }}</ref> | ||
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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 apparatus|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.<ref name="blood">{{cite web|last1=Khoriaty R, Vasievich MP, Ginsburg D.|first1=Blood. 2012 Jul 5;120(1):31-8. doi: 10.1182/blood-2012-01-292086|title=The COPII pathway and hematologic disease.|url=http://www.bloodjournal.org/content/120/1/31?sso-checked=true|website=www.bloodjournal.org|publisher=American Society of Hematology|accessdate=7 April 2017}}</ref><ref name="entrez" /> [[MCFD2]] is the second gene that leads to combined deficiency of factor V-factor VIII.<ref name="pmid12717434">{{cite journal |vauthors=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 | title = Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex | journal = Nat Genet | volume = 34 | issue = 2 | pages = 220–5 |date=May 2003 | pmid = 12717434 | pmc = | doi = 10.1038/ng1153 }}</ref> 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,<ref name="pmid15886209">{{cite journal |vauthors=Zhang B, Kaufman RJ, Ginsburg D |title=LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway |journal=J. Biol. Chem. |volume=280 |issue= 27 |pages= 25881–6 |year= 2005 |pmid= 15886209 |doi= 10.1074/jbc.M502160200 }}</ref>[http://www.bloodjournal.org/content/bloodjournal/120/1/31/F2.large.jpg as illustrated here.]<ref name=blood/> | |||
==Clinical significance== | |||
LMAN1 [[mutation]]al inactivation is a frequent and early event potentially contributing to [[colorectal cancer|colorectal tumorigenesis]].<ref name="pmid19118014">{{cite journal |vauthors=Roeckel N, Woerner SM, Kloor M, Yuan YP, Patsos G, Gromes R, Kopitz J, Gebert J | title = High frequency of LMAN1 abnormalities in colorectal tumors with microsatellite instability | journal = Cancer Res. | volume = 69 | issue = 1 | pages = 292–9 |date=January 2009 | pmid = 19118014 | doi = 10.1158/0008-5472.CAN-08-3314 | url = }}</ref> | |||
}} | |||
==References== | ==References== | ||
{{reflist | {{reflist}} | ||
{{Clear}} | |||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
*{{cite journal |vauthors=Botos I, Wlodawer A |title=Proteins that bind high-mannose sugars of the HIV envelope |journal=Prog. Biophys. Mol. Biol. |volume=88 |issue= 2 |pages= 233–82 |year= 2005 |pmid= 15572157 |doi= 10.1016/j.pbiomolbio.2004.05.001 }} | |||
*{{cite journal |vauthors=Arar C, Carpentier V, Le Caer JP, etal |title=ERGIC-53, a membrane protein of the endoplasmic reticulum-Golgi intermediate compartment, is identical to MR60, an intracellular mannose-specific lectin of myelomonocytic cells |journal=J. Biol. Chem. |volume=270 |issue= 8 |pages= 3551–3 |year= 1995 |pmid= 7876089 |doi=10.1074/jbc.270.8.3551 }} | |||
*{{cite journal | | *{{cite journal |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }} | ||
*{{cite journal | *{{cite journal |vauthors=Fiedler K, Simons K |title=A putative novel class of animal lectins in the secretory pathway homologous to leguminous lectins |journal=Cell |volume=77 |issue= 5 |pages= 625–6 |year= 1994 |pmid= 8205612 |doi=10.1016/0092-8674(94)90047-7 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Schindler R, Itin C, Zerial M, etal |title=ERGIC-53, a membrane protein of the ER-Golgi intermediate compartment, carries an ER retention motif |journal=Eur. J. Cell Biol. |volume=61 |issue= 1 |pages= 1–9 |year= 1993 |pmid= 8223692 |doi= }} | ||
*{{cite journal | | *{{cite journal |vauthors=Haurum JS, Thiel S, Jones IM, etal |title=Complement activation upon binding of mannan-binding protein to HIV envelope glycoproteins |journal=AIDS |volume=7 |issue= 10 |pages= 1307–13 |year= 1994 |pmid= 8267903 |doi=10.1097/00002030-199310000-00002 }} | ||
*{{cite journal | *{{cite journal |vauthors=Senaldi G, Davies ET, Mahalingam M, etal |title=Circulating levels of mannose binding protein in human immunodeficiency virus infection |journal=J. Infect. |volume=31 |issue= 2 |pages= 145–8 |year= 1996 |pmid= 8666845 |doi=10.1016/S0163-4453(95)92185-0 }} | ||
*{{cite journal | *{{cite journal |vauthors=Neerman-Arbez M, Antonarakis SE, Blouin JL, etal |title=The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103 |journal=Am. J. Hum. Genet. |volume=61 |issue= 1 |pages= 143–50 |year= 1997 |pmid= 9245995 |doi=10.1086/513897 | pmc=1715850 }} | ||
*{{cite journal | *{{cite journal |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 }} | ||
*{{cite journal | *{{cite journal |vauthors=Nichols WC, Terry VH, Wheatley MA, etal |title=ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families |journal=Blood |volume=93 |issue= 7 |pages= 2261–6 |year= 1999 |pmid= 10090935 |doi= }} | ||
*{{cite journal | *{{cite journal |vauthors=Saifuddin M, Hart ML, Gewurz H, etal |title=Interaction of mannose-binding lectin with primary isolates of human immunodeficiency virus type 1 |journal=J. Gen. Virol. |volume=81 |issue= Pt 4 |pages= 949–55 |year= 2000 |pmid= 10725420 |doi= 10.1099/0022-1317-81-4-949}} | ||
*{{cite journal | *{{cite journal |vauthors=Harris RA, Yang A, Stein RC, etal |title=Cluster analysis of an extensive human breast cancer cell line protein expression map database |journal=Proteomics |volume=2 |issue= 2 |pages= 212–23 |year= 2002 |pmid= 11840567 |doi=10.1002/1615-9861(200202)2:2<212::AID-PROT212>3.0.CO;2-H }} | ||
*{{cite journal | *{{cite journal |vauthors=Jüliger S, Kremsner PG, Alpers MP, etal |title=Restricted polymorphisms of the mannose-binding lectin gene in a population of Papua New Guinea |journal=Mutat. Res. |volume=505 |issue= 1–2 |pages= 87–91 |year= 2002 |pmid= 12175909 |doi=10.1016/S0027-5107(02)00142-2 }} | ||
*{{cite journal | *{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }} | ||
*{{cite journal | *{{cite journal |vauthors=Hart ML, Saifuddin M, Uemura K, etal |title=High mannose glycans and sialic acid on gp120 regulate binding of mannose-binding lectin (MBL) to HIV type 1 |journal=AIDS Res. Hum. Retroviruses |volume=18 |issue= 17 |pages= 1311–7 |year= 2003 |pmid= 12487819 |doi= 10.1089/088922202320886352 }} | ||
*{{cite journal | *{{cite journal |vauthors=Hart ML, Saifuddin M, Spear GT |title=Glycosylation inhibitors and neuraminidase enhance human immunodeficiency virus type 1 binding and neutralization by mannose-binding lectin |journal=J. Gen. Virol. |volume=84 |issue= Pt 2 |pages= 353–60 |year= 2003 |pmid= 12560567 |doi=10.1099/vir.0.18734-0 }} | ||
*{{cite journal | *{{cite journal |vauthors=Gevaert K, Goethals M, Martens L, etal |title=Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides |journal=Nat. Biotechnol. |volume=21 |issue= 5 |pages= 566–9 |year= 2004 |pmid= 12665801 |doi= 10.1038/nbt810 }} | ||
*{{cite journal | | *{{cite journal |vauthors=García-Laorden MI, Rúa-Figueroa I, Pérez-Aciego P, etal |title=Mannose binding lectin polymorphisms as a disease-modulating factor in women with systemic lupus erythematosus from Canary Islands, Spain |journal=J. Rheumatol. |volume=30 |issue= 4 |pages= 740–6 |year= 2003 |pmid= 12672193 |doi= }} | ||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{refend}} | {{refend}} | ||
{{ | {{PDB Gallery|geneid=3998}} | ||
{{ | {{Vesicular transport proteins}} | ||
{{gene-18-stub}} |
Revision as of 18:00, 2 September 2017
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Location (UCSC) | n/a | n/a | |||||
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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.[1][2][3]
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.[4][3] MCFD2 is the second gene that leads to combined deficiency of factor V-factor VIII.[5] 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,[6]as illustrated here.[4]
Clinical significance
LMAN1 mutational inactivation is a frequent and early event potentially contributing to colorectal tumorigenesis.[7]
References
- ↑ 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.
- ↑ 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.
- ↑ 3.0 3.1 "Entrez Gene: LMAN1 lectin, mannose-binding, 1".
- ↑ 4.0 4.1 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.
- ↑ 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.
- ↑ 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.
- ↑ 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
- Botos I, Wlodawer A (2005). "Proteins that bind high-mannose sugars of the HIV envelope". Prog. Biophys. Mol. Biol. 88 (2): 233–82. doi:10.1016/j.pbiomolbio.2004.05.001. PMID 15572157.
- Arar C, Carpentier V, Le Caer JP, et al. (1995). "ERGIC-53, a membrane protein of the endoplasmic reticulum-Golgi intermediate compartment, is identical to MR60, an intracellular mannose-specific lectin of myelomonocytic cells". J. Biol. Chem. 270 (8): 3551–3. doi:10.1074/jbc.270.8.3551. PMID 7876089.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Fiedler K, Simons K (1994). "A putative novel class of animal lectins in the secretory pathway homologous to leguminous lectins". Cell. 77 (5): 625–6. doi:10.1016/0092-8674(94)90047-7. PMID 8205612.
- Schindler R, Itin C, Zerial M, et al. (1993). "ERGIC-53, a membrane protein of the ER-Golgi intermediate compartment, carries an ER retention motif". Eur. J. Cell Biol. 61 (1): 1–9. PMID 8223692.
- Haurum JS, Thiel S, Jones IM, et al. (1994). "Complement activation upon binding of mannan-binding protein to HIV envelope glycoproteins". AIDS. 7 (10): 1307–13. doi:10.1097/00002030-199310000-00002. PMID 8267903.
- Senaldi G, Davies ET, Mahalingam M, et al. (1996). "Circulating levels of mannose binding protein in human immunodeficiency virus infection". J. Infect. 31 (2): 145–8. doi:10.1016/S0163-4453(95)92185-0. PMID 8666845.
- Neerman-Arbez M, Antonarakis SE, Blouin JL, et al. (1997). "The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103". Am. J. Hum. Genet. 61 (1): 143–50. doi:10.1086/513897. PMC 1715850. PMID 9245995.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Nichols WC, Terry VH, Wheatley MA, et al. (1999). "ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families". Blood. 93 (7): 2261–6. PMID 10090935.
- Saifuddin M, Hart ML, Gewurz H, et al. (2000). "Interaction of mannose-binding lectin with primary isolates of human immunodeficiency virus type 1". J. Gen. Virol. 81 (Pt 4): 949–55. doi:10.1099/0022-1317-81-4-949. PMID 10725420.
- Harris RA, Yang A, Stein RC, et al. (2002). "Cluster analysis of an extensive human breast cancer cell line protein expression map database". Proteomics. 2 (2): 212–23. doi:10.1002/1615-9861(200202)2:2<212::AID-PROT212>3.0.CO;2-H. PMID 11840567.
- Jüliger S, Kremsner PG, Alpers MP, et al. (2002). "Restricted polymorphisms of the mannose-binding lectin gene in a population of Papua New Guinea". Mutat. Res. 505 (1–2): 87–91. doi:10.1016/S0027-5107(02)00142-2. PMID 12175909.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Hart ML, Saifuddin M, Uemura K, et al. (2003). "High mannose glycans and sialic acid on gp120 regulate binding of mannose-binding lectin (MBL) to HIV type 1". AIDS Res. Hum. Retroviruses. 18 (17): 1311–7. doi:10.1089/088922202320886352. PMID 12487819.
- Hart ML, Saifuddin M, Spear GT (2003). "Glycosylation inhibitors and neuraminidase enhance human immunodeficiency virus type 1 binding and neutralization by mannose-binding lectin". J. Gen. Virol. 84 (Pt 2): 353–60. doi:10.1099/vir.0.18734-0. PMID 12560567.
- Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801.
- García-Laorden MI, Rúa-Figueroa I, Pérez-Aciego P, et al. (2003). "Mannose binding lectin polymorphisms as a disease-modulating factor in women with systemic lupus erythematosus from Canary Islands, Spain". J. Rheumatol. 30 (4): 740–6. PMID 12672193.
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