LMAN1: Difference between revisions

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Latest revision as of 09:01, 9 January 2019

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 (July 2012). "The COPII pathway and hematologic disease". Blood. 120 (1): 31–8. doi:10.1182/blood-2012-01-292086. PMC 3390960. PMID 22586181.
↑ 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.

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.

This article on a gene on human chromosome 18 is a stub. You can help Wikipedia by expanding it.

[pmid9546392-1] 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.

[pmid8854877-2] 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.

[entrez-3] 3.0 ^3.1 "Entrez Gene: LMAN1 lectin, mannose-binding, 1".

[blood-4] 4.0 ^4.1 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.

[pmid12717434-5] 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.

[pmid15886209-6] 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.

[pmid19118014-7] 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.

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-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{Infobox_gene}}
-{{PBB_Controls
+'''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>
-| update_page = yes
-| require_manual_inspection = no
-| update_protein_box = yes
-| update_summary = yes
-| update_citations = yes
-}}
-<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+== Function ==
-{{GNF_Protein_box
- | image = PBB_Protein_LMAN1_image.jpg
- | image_source = [[Protein_Data_Bank|PDB]] rendering based on 1r1z.
- | PDB = {{PDB2|1r1z}}
- | Name = Lectin, mannose-binding, 1
- | HGNCid = 6631
- | Symbol = LMAN1
- | AltSymbols =; ERGIC-53; ERGIC53; F5F8D; FMFD1; MCFD1; MR60; gp58
- | OMIM = 601567
- | ECnumber =
- | Homologene = 4070
- | MGIid = 1917611
- | GeneAtlas_image1 = PBB_GE_LMAN1_203293_s_at_tn.png
- | GeneAtlas_image2 = PBB_GE_LMAN1_203294_s_at_tn.png
- | Function = {{GNF_GO|id=GO:0005529 |text = sugar binding}} {{GNF_GO|id=GO:0005537 |text = mannose binding}} {{GNF_GO|id=GO:0051082 |text = unfolded protein binding}}
- | Component = {{GNF_GO|id=GO:0000139 |text = Golgi membrane}} {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0005789 |text = endoplasmic reticulum membrane}} {{GNF_GO|id=GO:0005793 |text = ER-Golgi intermediate compartment}} {{GNF_GO|id=GO:0005794 |text = Golgi apparatus}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0030017 |text = sarcomere}}
- | Process = {{GNF_GO|id=GO:0006457 |text = protein folding}} {{GNF_GO|id=GO:0006888 |text = ER to Golgi vesicle-mediated transport}} {{GNF_GO|id=GO:0007596 |text = blood coagulation}} {{GNF_GO|id=GO:0015031 |text = protein transport}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 3998
-    | Hs_Ensembl = ENSG00000074695
-    | Hs_RefseqProtein = NP_005561
-    | Hs_RefseqmRNA = NM_005570
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 18
-    | Hs_GenLoc_start = 55148088
-    | Hs_GenLoc_end = 55177463
-    | Hs_Uniprot = P49257
-    | Mm_EntrezGene = 70361
-    | Mm_Ensembl = ENSMUSG00000041891
-    | Mm_RefseqmRNA = NM_027400
-    | Mm_RefseqProtein = NP_081676
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 18
-    | Mm_GenLoc_start = 66106123
-    | Mm_GenLoc_end = 66127981
-    | Mm_Uniprot = Q3U944
-  }}
-}}
-'''Lectin, mannose-binding, 1''', also known as '''LMAN1''', is a human [[gene]].<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>
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+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 | 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/>
-{{PBB_Summary
-| section_title =
+==Clinical significance==
-| 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. 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 factor V-factor VIII deficiency, 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>
+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==
-{{reflist|2}}
+{{reflist}}
+{{Clear}}
 ==Further reading==
 {{refbegin | 2}}
-{{PBB_Further_reading
+*{{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 }}
-| citations =
+*{{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  | 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=  }}
+*{{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  | 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=  }}
+*{{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  | 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=  }}
+*{{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  | 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=  }}
+*{{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=  }}
+*{{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=Arar C, Mignon C, Mattei M, ''et al.'' |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 |pmid= 8854877 |doi=  }}
+*{{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  | 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=  }}
+*{{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  | 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=  }}
+*{{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  | author=Nichols WC, Seligsohn U, Zivelin A, ''et al.'' |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 |pmid= 9546392 |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=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=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  | 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=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=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=  }}
+*{{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  | 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=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  | 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 }}
+*{{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  | 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  | 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=  }}
-*{{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}}
-{{protein-stub}}
+{{PDB Gallery|geneid=3998}}
-{{WikiDoc Sources}}
+{{Vesicular transport proteins}}
+{{gene-18-stub}}

LMAN1: Difference between revisions

Latest revision as of 09:01, 9 January 2019

Contents

Function

Clinical significance

References

Further reading

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