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Aliases & Descriptions for LMAN1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ERGIC-53 1, 2 | | ERGIC53 1, 2, 3, 5 | | F5F8D 2, 3, 5 | | FMFD1 1, 2 | | Gp58 3 | | MCFD1 1, 2, 5 | | MR60 1, 2 | | gp58 1, 2 |
| | | Descriptions |
|---|
| ER-Golgi intermediate compartment 53 kDa protein 3 | | Intracellular mannose-specific lectin MR60 3 | | Lectin mannose-binding 1 3 | | coagulation factor V-factor VIII combined deficiency 1 | endoplasmic reticulum-golgi intermediate compartment protein 53 2 | | intracellular mannose specific lectin 2 | | lectin, mannose-binding, 1 2 |
|
| | Search outside databases for aliases for LMAN1 genePrevious GC identifers: GC18M056829 GC18M056969 GC18M055146 |
Summaries for LMAN1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for LMAN1: 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. [provided by RefSeq] UniProtKB/Swiss-Prot: LMAN1_HUMAN, P49257Function: Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteinsGene Wiki entry for LMAN1 |
Genomic Location for LMAN1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the LMAN1 gene 
Entrez Gene cytogenetic band: 18q21.3-q22 Ensembl cytogenetic band: 18q21.32 HGNC cytogenetic band: 18q21.3-q22LMAN1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 18 GeneLoc Exon Structure GeneLoc location for GC18M055148:
(about GC identifiers)
Start:
|
55,148,088 bp from pter |
End:
|
55,177,463 bp from pter |
Size:
|
29,376 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000018.8 NT_025028.13
| Proteins for LMAN1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: LMAN1_HUMAN, P49257 (See
protein sequence)Recommended Name: Protein ERGIC-53 precursor Size: 510 amino acids; 57549 Da
Subunit: Forms disulfide-linked dimers and hexamers. Interacts with MCFD2
Subcellular location: Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein
Mass spectrometry: Mass=54222.91; Method=MALDI; Range=31-510; Source=PubMed:11840567;
Secondary accessions: Q12895 Q8N5I7 Q9UQG1 Q9UQG2 Q9UQG3 Q9UQG4 Q9UQG5 Q9UQG6 Q9UQG7 Q9UQG8 Q9UQG9 Q9UQH0 Q9UQH1 Q9UQH2Post-translational modifications:
The N-terminal may be partly blocked1
REFSEQ proteins: NP_005561.1
ENSEMBL proteins: ENSP00000251047
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: LMAN1 
5/8 Gene Ontology (GO) cellular component terms (links to tree view) (see all 8
): About this table
Antibodies for LMAN1: Assays for LMAN1: | Protein
Domains/ Families for LMAN1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P49257
ProtoNet protein and cluster: P49257 1 Blocks protein family: IPB005052 Legume-like lectin
UniProtKB/Swiss-Prot: LMAN1_HUMAN, P49257Similarity: Contains 1 L-type lectin-like domain | Gene Function for LMAN1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005570
Applied Biosystems Silencer® siRNAs for LMAN1
Sigma-Aldrich siRNA and siRNA Panels for LMAN1  Sigma-Aldrich shRNA Panels and shRNA for LMAN1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005570                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005570                                  untagged cDNA clone in CMV expression vector: NM_005570 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_005570
UniProtKB/Swiss-Prot: LMAN1_HUMAN, P49257Function: Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteinsGenatlas biochemistry entry for LMAN1:intracellular mannose specific lectin,with homology to galectin,involved in the transport of early processed glycoprotein from endoplasmic reticulum to Golgi3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for LMAN1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for LMAN1 
5/13 Interacting proteins for LMAN1 (P492572 ENSP000002510473) via UniProtKB, MINT, and/or STRING (see all 13
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for LMAN1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for LMAN1 4 Novoseek chemical compound relationships for LMAN1 gene
About this table
|
Transcripts for LMAN1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005570
Sigma-Aldrich siRNA and siRNA Panels for LMAN1  Sigma-Aldrich shRNA Panels and shRNA for LMAN1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_005570 REFSEQ mRNAs for LMAN1 gene: NM_005570.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005570               OriGene GFP tagged cDNA clone in CMV expression vector: NM_005570                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005570                                  untagged cDNA clone in CMV expression vector: NM_005570  Additional cDNA sequence: AK025773.1 AK223208.1 AK225108.1 AK225111.1 AK301244.1 AK312869.1 BC008401.1 BC017858.1 BC032330.1 CR592087.1 CR599221.1 CR600055.1 CR609154.1 CR618370.1 CR625542.1 U09716.1 X71661.1 23 DOTS entries: DT.100803248 DT.91977945 DT.100803239 DT.100714983 DT.100775782 DT.100803243 DT.95194342 DT.100028977 DT.119596 DT.92449210 DT.100803237 DT.119597 DT.75190352 DT.75190833 DT.92449203 DT.95123783 DT.100803245 DT.91657707 DT.95123808 DT.95209221 DT.97815490 DT.99974752 DT.100722013 24/424 AceView cDNA sequences (see all 424
):CR592087 AW613457 CB119446 AA789062 T30277 AU127736 F01830 AI074164 AA442685 AW272648 BQ020103 AA343952 CN484164 BX348814 AV685092 AA425690 BC032330 CB164270 BU607838 AI280513 AI075150 AA459256 AW340515 AA459481
highest scoring ESTs for LMAN1:X71661 AA223421 AI523946 AL530615 AU098546 BC032330 BE675859 BF061705 BF105076 BF317418 Unigene Cluster for LMAN1: Lectin, mannose-binding, 1 Hs.465295 [show with all ESTs]Unigene Representative Sequence: NM_005570
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000251047
|
Expression for LMAN1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| LMAN1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for LMAN1
1 / 2 / 3 9 probe-sets matching LMAN1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TGCTTATTGA
SOURCE GeneReport for Unigene cluster: Hs.465295
Expression variation in blood from EXPOLDB for LMAN1 UniProtKB/Swiss-Prot: LMAN1_HUMAN, P49257Tissue specificity: Ubiquitous |
Orthologs for LMAN1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for LMAN1 gene from 5/13 species (see all 13
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
LMAN11 |
-- |
lectin, mannose-binding, 1 |
90.33(n) 90.98(a) |
476186 XM_533390.2 XP_533390.2 |
chimpanzee (Pan troglodytes) |
LMAN11 |
-- |
lectin, mannose-binding, 1 |
99.15(n) 99.22(a) |
455448 XM_001143039.1 XP_001143039.1 |
cow (Bos taurus) |
LMAN11 |
-- |
lectin, mannose-binding, 1 |
84.66(n) 86.11(a) |
511649 XM_589028.3 XP_589028.3 |
rat (Rattus norvegicus) |
Lman11 |
-- |
lectin, mannose-binding, 1 |
85.33(n) 89.19(a) |
116666 NM_053886.1 NP_446338.1 |
mouse (Mus musculus) |
Lman11, 5 |
185
|
lectin, mannose-binding, 11, 5 |
85.79(n)1 89(a)1 |
703611 NM_027400.21 NP_081676.11 AI3262735 AI7870745 (see all 21) |
About this table Species with no ortholog for LMAN1
ENSEMBL Gene Tree for LMAN1 | Paralogs for LMAN1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for LMAN1 gene
- LMAN22 LMAN2L2 LMAN1L2
|
SNPs/Variants for LMAN1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for LMAN1 (up to first 250kb)
|
Disorders & Mutations for LMAN1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 601567 disorders: 227300 UniProtKB/Swiss-Prot: LMAN1_HUMAN, P49257
Defects in LMAN1 are a cause of factor V and factor VIII combined deficiency (F5F8D) [MIM:227300]; also known as multiple coagulation factor deficiency I (MCFD1). F5F8D is an autosomal recessive bleeding disorder characterized by coordinate reduction of both clotting proteins. Affected patients present with a moderate bleeding tendency and have factor V and factor VIII levels in the range of 5-30% of normal6 Novoseek disease relationships for LMAN1 gene
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| f5f8d |
98.51 |
34 |
16304051 (4), 19141160 (4), 16044454 (3), 10090934 (3) (see all 12) |
| coagulation factor deficiency |
79.35 |
3 |
17010120 (1), 16044454 (1), 15333032 (1) |
| coagulopathy |
68.22 |
9 |
10090934 (2), 14629470 (1), 16044454 (1), 18056485 (1) (see all 8) |
| hemophilia a |
62.72 |
4 |
17971482 (1), 15166951 (1), 18685427 (1) |
| protein deficiency |
51.21 |
2 |
17010120 (1), 15849265 (1) |
| bleeding |
1.11 |
1 |
19183188 (1) |
About this table
Genatlas disease: LMAN1 bleeding diathesis,mild to moderate,with combined factor V/factor VIII deficiency Human Gene Mutation Database: LMAN1 Genetic Association Database: LMAN1 Human Genome Epidemiology Navigator: LMAN1 (9 documents)
|
Medical News for LMAN1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for LMAN1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/108 PubMed articles for LMAN1 gene (see all 108
):- ERGIC-53, a membrane protein of the endoplasmic reticulum-Golgi intermediate compartment, is identical to MR60, an intracellular mannose-specific lectin of myelomonocytic cells. (PubMed id 7876089)1, 3, 4 Arar C....Roche A.-C. (1995)
- A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia. (PubMed id 15166951)1, 3, 6 Segal A....Seligsohn U. (2004)
- ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. (PubMed id 10090935)1, 3, 4 Nichols W.C....Seligsohn U. (1999)
- ERGIC-53, a membrane protein of the ER-Golgi intermediate compartment, carries an ER retention motif. (PubMed id 8223692)1, 3, 4 Schindler R.... Hauri H.-P. (1993)
- Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. (PubMed id 9546392)1, 2, 3 Nichols W.C....Ginsburg D. (1998)
- Prospective analysis of mannose-binding lectin genotypes and coronary artery disease in American Indians: the Strong Heart Study. (PubMed id 14732744)3, 6 Best L.G....Ferrell R.E. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Association of mannose-binding lectin polymorphisms with sepsis and fatal outcome, in patients with systemic inflammatory response syndrome. (PubMed id 14593599)3, 6 Garred P....Madsen H.O. (2003)
- Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)3, 4 Gevaert K.... Vandekerckhove J. (2003)
- Mannose binding lectin polymorphisms as a disease-modulating factor in women with systemic lupus erythematosus from Canary Islands, Spain. (PubMed id 12672193)3, 6 Garcia-Laorden M.I....Rodriguez-Gallego C. (2003)
|
Search for LMAN1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing LMAN1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing LMAN1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing LMAN1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for LMAN1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
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Incremental update: 13 Oct 2009
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