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LMAN1 Gene

protein-coding   GIFtS: 66
GCID: GC18M056969

Lectin, Mannose-Binding, 1

(Previous name: coagulation factor V-factor VIII combined deficiency)
(Previous symbol: F5F8D)
  See LMAN1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Lectin, Mannose-Binding, 11 2     ERGIC-532
F5F8D1 2 3 5     FMFD12
ERGIC532 3 5     MR602
Endoplasmic Reticulum-Golgi Intermediate Compartment Protein 531 2     gp582
Intracellular Mannose-Specific Lectin MR602 3     Intracellular Mannose Specific Lectin2
ER-Golgi Intermediate Compartment 53 KDa Protein2 3     Protein ERGIC-532
MCFD12 5     Gp583
Coagulation Factor V-Factor VIII Combined Deficiency1     Lectin Mannose-Binding 13

External Ids:    HGNC: 66311   Entrez Gene: 39982   Ensembl: ENSG000000746957   OMIM: 6015675   UniProtKB: P492573   

Export aliases for LMAN1 gene to outside databases

Previous GC identifers: GC18M056829 GC18M055146 GC18M055148 GC18M053704


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LMAN1 Gene:
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, Jul 2008)

GeneCards Summary for LMAN1 Gene:
LMAN1 (lectin, mannose-binding, 1) is a protein-coding gene. Diseases associated with LMAN1 include combined factor v and viii deficiency, and factor viii deficiency. GO annotations related to this gene include unfolded protein binding and mannose binding. An important paralog of this gene is LMAN2.

UniProtKB/Swiss-Prot: LMAN1_HUMAN, P49257
Function: 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 proteins

Gene Wiki entry for LMAN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the LMAN1 gene promoter:
         GR   AML1a   MAZR   GR-beta   GATA-1   POU2F1   POU2F1a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLMAN1 promoter sequence
   Search Chromatin IP Primers for LMAN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LMAN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21.3-q22   Ensembl cytogenetic band:  18q21.32   HGNC cytogenetic band: 18q21.3-q22

LMAN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LMAN1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M056969:  view genomic region     (about GC identifiers)

Start:
56,995,055 bp from pter      End:
57,027,194 bp from pter
Size:
32,140 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LMAN1_HUMAN, P49257 (See protein sequence)
Recommended Name: Protein ERGIC-53 precursor  
Size: 510 amino acids; 57549 Da
Subunit: Exists both as a covalent disulfide-linked homohexamer, and a complex of three disulfide-linked dimers
non-covalently kept together. Interacts with MCFD2
Mass spectrometry: Mass=54222.91; Method=MALDI; Range=31-510; Source=PubMed:11840567;
Selected PDB 3D structures from and Proteopedia for LMAN1 (see all 7):
3A4U (3D)        3LCP (3D)        3WHT (3D)        3WHU (3D)        3WNX (3D)        4GKX (3D)    
Secondary accessions: Q12895 Q8N5I7 Q9UQG1 Q9UQG2 Q9UQG3 Q9UQG4 Q9UQG5 Q9UQG6 Q9UQG7 Q9UQG8
Q9UQG9 Q9UQH0 Q9UQH1 Q9UQH2

Explore the universe of human proteins at neXtProt for LMAN1: NX_P49257

Explore proteomics data for LMAN1 at MOPED

Post-translational modifications: 

  • The N-terminal may be partly blocked1
  • Ubiquitination2 at Lys346, Lys372
  • Glycosylation2 at Thr276, Thr385, Ser425, Thr432, Thr433
  • Modification sites at PhosphoSitePlus

  • See LMAN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005561.1  
    ENSEMBL proteins: 
     ENSP00000251047  
    Reactome Protein details: P49257

    LMAN1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for LMAN1

     
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    LMAN1 Assay Products:

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    Cloud-Clone Corp. ELISAs for LMAN1
    Cloud-Clone Corp. CLIAs for LMAN1
    Search eBioscience for ELISAs for LMAN1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR013320 ConA-like_subgrp
     IPR005052 Lectin_leg
     IPR008985 ConA-like_lec_gl_sf

    Graphical View of Domain Structure for InterPro Entry P49257

    ProtoNet protein and cluster: P49257

    1 Blocks protein domain: IPB005052 Legume-like lectin

    UniProtKB/Swiss-Prot: LMAN1_HUMAN, P49257
    Domain: The FF ER export motif at the C-terminus is not sufficient to support endoplasmic reticulum exit, and
    needs assistance of Gln-501 for proper recognition of COPII coat components
    Similarity: Contains 1 L-type lectin-like domain


    Find genes that share domains with LMAN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LMAN1_HUMAN, P49257
    Function: 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 proteins

         Genatlas biochemistry entry for LMAN1:
    intracellular mannose specific lectin,with homology to galectin,involved in the transport of early processed
    glycoprotein from endoplasmic reticulum to Golgi

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17805346
    GO:0005537mannose binding TAS7876089
    GO:0046872metal ion binding IEA--
    GO:0051082unfolded protein binding TAS9546392
         
    Find genes that share ontologies with LMAN1           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lman1):
     cellular  homeostasis/metabolism  mortality/aging 

    Find genes that share phenotypes with LMAN1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LMAN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LMAN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LMAN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LMAN1

    miRNA
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    miRTarBase miRNAs that target LMAN1:
    hsa-mir-215-5p (MIRT024823), hsa-mir-192-5p (MIRT026376), hsa-mir-18a-3p (MIRT040889)

    Block miRNA regulation of human, mouse, rat LMAN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LMAN1 (see all 44):
    hsa-miR-3607-3p hsa-miR-3938 hsa-miR-642a hsa-miR-429 hsa-miR-449a hsa-miR-4267 hsa-miR-183* hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidLMAN1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for LMAN1
    Predesigned siRNA for gene silencing in human, mouse, rat LMAN1

    Gene Editing
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    Clone
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    Sino Biological Human cDNA Clone for LMAN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LMAN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LMAN1
    Addgene plasmids for LMAN1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMAN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LMAN1_HUMAN, P49257: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    peroxisome2
    plasma membrane2
    cytoskeleton1
    cytosol1
    extracellular1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IDA15308636
    GO:0005794Golgi apparatus ----
    GO:0012507ER to Golgi transport vesicle membrane TAS--

    Find genes that share ontologies with LMAN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LMAN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Transport to the Golgi and subsequent modification0.40
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    2Signaling events mediated by TCPTP
    Signaling events mediated by TCPTP
    3Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum


    Find genes that share SuperPaths with LMAN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for LMAN1
        Signaling events mediated by TCPTP


    1 Reactome Pathway for LMAN1
        Transport to the Golgi and subsequent modification


    1 Kegg Pathway  (Kegg details for LMAN1):
        Protein processing in endoplasmic reticulum

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LMAN1
    Interactions:

        GeneGlobe Interaction Network for LMAN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for LMAN1 (P492571, 2, 3 ENSP000002510474) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNX9Q9Y5X12, 3, ENSP000003760244MINT-61337 I2D: score=1 STRING: ENSP00000376024
    ERP44Q9BS261, 2, 3, ENSP000002624554EBI-1057738,EBI-541644 MINT-6174085 MINT-6174046 MINT-6174031 I2D: score=1 STRING: ENSP00000262455
    MCFD2Q8NI222, 3, ENSP000003172714MINT-7557086 I2D: score=3 STRING: ENSP00000317271
    F8P004513, ENSP000003533934I2D: score=2 STRING: ENSP00000353393
    MAPK3P273613, ENSP000002630254I2D: score=1 STRING: ENSP00000263025
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding TAS9546392
    GO:0006888ER to Golgi vesicle-mediated transport TAS9546392
    GO:0007029endoplasmic reticulum organization IEA--
    GO:0007030Golgi organization IMP18287528
    GO:0007596blood coagulation TAS9546392

    Find genes that share ontologies with LMAN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LMAN1

    1 DrugBank Compound for LMAN1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Antihemophilic FactorAHF (see all 3)--targetchaperone17139284 14726380 14629470 17016423

    5 Novoseek inferred chemical compound relationships for LMAN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 49.8 12 8868475 (3), 7876089 (2), 16044454 (1), 19787799 (1) (see all 6)
    asparagine 35.4 4 8868475 (1)
    polysaccharide 26.4 1 20102547 (1)
    lysine 2.57 2 8119975 (2)
    glucose 0 1 8868475 (1)



    Find genes that share compounds with LMAN1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LMAN1 gene: 
    NM_005570.3  

    Unigene Cluster for LMAN1:

    Lectin, mannose-binding, 1
    Hs.465295  [show with all ESTs]
    Unigene Representative Sequence: NM_005570
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000251047(uc002lhz.3 uc010xek.1) ENST00000592562 ENST00000587918
    ENST00000587940 ENST00000587561
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate LMAN1 (see all 44):
    hsa-miR-3607-3p hsa-miR-3938 hsa-miR-642a hsa-miR-429 hsa-miR-449a hsa-miR-4267 hsa-miR-183* hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidLMAN1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat LMAN1
      QuantiFast Probe-based Assays in human, mouse, rat LMAN1

    Additional mRNA sequence: 

    AK025773.1 AK223208.1 AK225108.1 AK225111.1 AK301244.1 AK312869.1 BC008401.1 BC017858.1 
    BC032330.1 U09716.1 X71661.1 

    23 DOTS entries:

    DT.100803248  DT.91977945  DT.100803239  DT.100803243  DT.100714983  DT.100775782  DT.92449210  DT.95194342 
    DT.100028977  DT.100803237  DT.119596  DT.119597  DT.75190352  DT.75190833  DT.91657707  DT.92449203 
    DT.95123783  DT.100803245  DT.95123808  DT.95209221  DT.97815490  DT.99974752  DT.100722013 

    Selected AceView cDNA sequences (see all 424):

    CA446714 AW340515 AA452855 Z41542 AA452845 AI280513 BQ416641 AK025773 
    BQ437251 AA344053 BQ001418 AA333292 AA725421 CR599221 W85906 BM681360 
    AW613457 BU170873 W24667 N91050 AA872645 BG168053 BQ775759 BE349551 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LMAN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTTATTGA
    LMAN1 Expression
    About this image


    LMAN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Neural Crest (Gastrulation Derivatives)
             Cranial Neural Crest Cells Branchial Arch 1
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
    LMAN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LMAN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.465295

    UniProtKB/Swiss-Prot: LMAN1_HUMAN, P49257
    Tissue specificity: Ubiquitous

        Custom PCR Arrays for LMAN1
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    QuantiFast Probe-based Assays in human, mouse, rat LMAN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMAN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for LMAN1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lman11 , 5 lectin, mannose-binding, 11, 5 85.85(n)1
    89(a)1
      18 (39.08 cM)5
    703611  NM_001172062.11  NP_001165533.11 
     659807545 
    chicken
    (Gallus gallus)
    Aves LMAN11 lectin, mannose-binding, 1 77.8(n)
    81.29(a)
      426849  NM_001031399.2  NP_001026570.1 
    lizard
    (Anolis carolinensis)
    Reptilia LMAN16
    lectin, mannose-binding, 1
    77(a)
    1 ↔ 1
    GL343335.1(941331-960852)
    African clawed frog
    (Xenopus laevis)
    Amphibia lman1-A-prov2 lectin, mannose-binding, 1 76.15(n)    U44130.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc54c092 wufc54c09 77.06(n)   325071  CK016547.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rhea3
    ergic531
    mannose binding3
    ergic531
    39(a)3
    51.52(n)1
    43(a)1
      3 66D63
    446791  NM_080037.31  NP_524776.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K07A1.83
    ile-11
    P58 protein like3
    ile-11
    37(a)3
    50.04(n)1
    41.02(a)1
      I(9617873-9619588)3
    1727991  NM_060147.51  NP_492548.11 


    ENSEMBL Gene Tree for LMAN1 (if available)
    TreeFam Gene Tree for LMAN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LMAN1 gene
    LMAN22  LMAN2L2  LMAN1L2  
    3 SIMAP similar genes for LMAN1 using alignment to 2 protein entries:     LMAN1_HUMAN (see all proteins):
    LMAN1L    LMAN2    LMAN2L

    Find genes that share paralogs with LMAN1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for LMAN1 (see all 746)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs713363361,2
    C--53710346(+) AAAAG-/AAAAAA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs129621561,2
    H--53723845(+) AAGaaA/Ttgaag 1 -- int1 trp34Minor allele frequency- T:0.00NS EA 418
    rs106324321,2
    C--53723953(+) GGCAA-/AACC  
            
    ACTAA
    1 -- int10--------
    rs354565821,2
    C--53723954(+) GCAAA-/AAC   
      C
    /ACCA
    CTAAA
    1 -- int10--------
    rs106100741,2
    C--53734463(+) aaaaa-/A/AAA 
            
    GATTA
    1 -- int11NA 2
    rs1387451271,2
    --56848626(+) CCATGC/TGAGAT 1 -- ds50010--------
    rs1418706911,2
    --56848673(+) GTGAGA/CGAGCC 1 -- ds50010--------
    rs1507084001,2
    --56848742(+) ATTAAA/CTCTCA 1 -- ds50010--------
    rs1850035511,2
    --56848746(+) ACTCTA/CAGAAT 1 -- ds50010--------
    rs1379101811,2
    C--56848751(+) CAGAAC/TTGGAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for LMAN1 (56995055 - 57027194 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for LMAN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv522853CNV Loss19592680

    Human Gene Mutation Database (HGMD): LMAN1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LMAN1
    DNA2.0 Custom Variant and Variant Library Synthesis for LMAN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601567   
    OMIM disorders: 227300  
    UniProtKB/Swiss-Prot: LMAN1_HUMAN, P49257
  • Factor V and factor VIII combined deficiency 1 (F5F8D1) [MIM:227300]: A blood coagulation disorder
    characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single
    deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive
    bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of
    normal. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 2 diseases for LMAN1:    
    About MalaCards
    combined factor v and viii deficiency    factor viii deficiency

    1 disease from the University of Copenhagen DISEASES database for LMAN1:
    Factor VIII deficiency

    Find genes that share disorders with LMAN1           About GenesLikeMe

    6 Novoseek inferred disease relationships for LMAN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    f5f8d 98.8 49 19787799 (5), 16304051 (4), 19141160 (4), 16044454 (3) (see all 18)
    coagulation factor deficiency 82.1 5 17010120 (1), 16044454 (1), 19598067 (1), 15333032 (1)
    coagulopathy 70.1 13 10090934 (2), 14629470 (1), 16044454 (1), 19598067 (1) (see all 11)
    hemophilia a 64.6 4 17971482 (1), 15166951 (1), 18685427 (1)
    protein deficiency 49.1 2 17010120 (1), 15849265 (1)
    bleeding 4.16 1 19183188 (1)

    Genatlas disease: LMAN1
    bleeding diathesis,mild to moderate,with combined factor V/factor VIII deficiency

    Genetic Association Database (GAD): LMAN1
    Human Genome Epidemiology (HuGE) Navigator: LMAN1 (17 documents)

    Export disorders for LMAN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LMAN1 gene, integrated from 10 sources (see all 150):
    (articles sorted by number of sources associating them with LMAN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 2, 9 Arar C....Roche A.-C. (J. Biol. Chem. 1995)
    2. LMAN1 is a molecular chaperone for the secretion of coagulation factor VIII. (PubMed id 14629470)1, 7, 9 Cunningham M.A....Kaufman R.J. (J. Thromb. Haemost. 2003)
    3. 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, 4, 9 Segal A....Seligsohn U. (amp 2004)
    4. ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. (PubMed id 10090935)1, 2, 9 Nichols W.C....Seligsohn U. (Blood 1999)
    5. ERGIC-53, a membrane protein of the ER-Golgi intermediate compartment, carries an ER retention motif. (PubMed id 8223692)1, 2, 9 Schindler R.... Hauri H.-P. (Eur. J. Cell Biol. 1993)
    6. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. (PubMed id 9546392)1, 3, 9 Nichols W.C....Ginsburg D. (Cell 1998)
    7. Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII. (PubMed id 20138881)1, 2, 9 Wigren E.... Lindqvist Y. (FEBS Lett. 2010)
    8. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    9. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3998 HGNC: 6631 AceView: LMAN1 Ensembl:ENSG00000074695 euGenes: HUgn3998
    ECgene: LMAN1 Kegg: 3998 H-InvDB: LMAN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for LMAN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LMAN1 gene:
    Search GeneIP for patents involving LMAN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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