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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{PBB|geneid=3998}}
{{Infobox_gene}}
'''Protein ERGIC-53''' is a [[protein]] that in humans is encoded by the ''LMAN1'' [[gene]].<ref name="pmid9546392">{{cite journal | author = 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 | year = 1998 | month = May | pmid = 9546392 | pmc = | doi =10.1016/S0092-8674(00)81146-0 }}</ref><ref name="pmid8854877">{{cite journal | author = 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 | year = 1997 | month = Feb | pmid = 8854877 | pmc = | doi =10.1007/s003359900238 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: LMAN1 lectin, mannose-binding, 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3998| accessdate = }}</ref>
'''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 | doi =10.1016/S0092-8674(00)81146-0 | s2cid = 15021770 | doi-access = free }}</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 | doi =10.1007/s003359900238 | s2cid = 19754504 }}</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}}</ref>
[[

<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
== Function ==
{{PBB_Summary

| section_title =
| summary_text = The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the [[Golgi]], presumably recycling between the two compartments. Also named LMAN1, 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="entrez">{{cite web | title = Entrez Gene: LMAN1 lectin, mannose-binding, 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3998| accessdate = }}</ref> [[MCFD2]] is the second gene that leads to combined deficiency of factor V-factor VIII.<ref name="pmid12717434">{{cite journal | author = 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 | year = 2003 | month = May | 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 Golgi body.<ref name="pmid15886209”>{{cite journal | author=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>
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 journal | vauthors = Khoriaty R, Vasievich MP, Ginsburg D | title = The COPII pathway and hematologic disease | journal = Blood | volume = 120 | issue = 1 | pages = 31–8 | date = July 2012 | pmid = 22586181 | pmc = 3390960 | doi = 10.1182/blood-2012-01-292086 }}</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 | doi = 10.1038/ng1153 | s2cid = 19281158 }}</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 |doi-access= free }}</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 | doi-access = free }}</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 |doi-access= free }}
{{PBB_Further_reading
*{{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 |doi-access=free }}
| citations =
*{{cite journal | author=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=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 | author=Arar C, Carpentier V, Le Caer JP, ''et al.'' |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 |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 |s2cid=21111364 }}
*{{cite journal | author=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 |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 }}
*{{cite journal | author=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 |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 |s2cid=25026640 }}
*{{cite journal | author=Schindler R, Itin C, Zerial M, ''et al.'' |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 |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 | author=Haurum JS, Thiel S, Jones IM, ''et al.'' |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 |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 | author=Senaldi G, Davies ET, Mahalingam M, ''et al.'' |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 |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 | author=Neerman-Arbez M, Antonarakis SE, Blouin JL, ''et al.'' |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 |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 }}
*{{cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |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 |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|doi-access=free }}
*{{cite journal | author=Nichols WC, Terry VH, Wheatley MA, ''et al.'' |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 |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 |s2cid=44946014 }}
*{{cite journal | author=Saifuddin M, Hart ML, Gewurz H, ''et al.'' |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= }}
*{{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 | author=Harris RA, Yang A, Stein RC, ''et al.'' |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 |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 |bibcode=2002PNAS...9916899M |doi-access=free }}
*{{cite journal | author=Jüliger S, Kremsner PG, Alpers MP, ''et al.'' |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= }}
*{{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 | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 |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 |doi-access=free }}
*{{cite journal | author=Hart ML, Saifuddin M, Uemura K, ''et al.'' |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 |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 |s2cid=23783563 }}
*{{cite journal | author=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 |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 }}
*{{cite journal | author=Gevaert K, Goethals M, Martens L, ''et al.'' |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 | author=García-Laorden MI, Rúa-Figueroa I, Pérez-Aciego P, ''et al.'' |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= }}
}}
{{refend}}
{{refend}}

{{PDB Gallery|geneid=3998}}
{{PDB Gallery|geneid=3998}}
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{{Vesicular transport proteins}}


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{{gene-18-stub}}


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Latest revision as of 04:49, 14 October 2024

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; OMA:LMAN1 - orthologs
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

[edit]

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

[edit]

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

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000074695 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: LMAN1 lectin, mannose-binding, 1".
  8. ^ a b 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

[edit]


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