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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LMAN1 Gene

protein-coding   GIFtS: 65
GCID: GC18M056969

Lectin, Mannose-Binding, 1

(Previous name: coagulation factor V-factor VIII combined deficiency)
(Previous symbol: F5F8D)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 v and factor viii, combined deficiency of, and among its related super-pathways are WNT ligand biogenesis and trafficking and N-glycan antennae elongation in the medial/trans-Golgi. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.2  NT_025028.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for LMAN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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: Exists both as a covalent disulfide-linked homohexamer, and a complex of three disulfide-linked dimers
non-covalently kept together. 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;
4 PDB 3D structures from and Proteopedia for LMAN1:
3A4U (3D)        3LCP (3D)        4GKX (3D)        4GKY (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:

  • UniProtKB: The N-terminal may be partly blocked
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P49257

  • LMAN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LMAN1 Protein Expression
    REFSEQ proteins: NP_005561.1  
    ENSEMBL proteins: 
     ENSP00000251047  
    Reactome Protein details: P49257
    Human Recombinant Protein Products for LMAN1: 
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    Novus Biologicals LMAN1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LMAN1 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    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--

    LMAN1 for ontologies           About GeneDecksing



    LMAN1 Antibody Products: 
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    Assay Products for LMAN1: 
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    Cloud-Clone Corp. ELISAs for LMAN1 
    Cloud-Clone Corp. CLIAs for LMAN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    LMAN1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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
         
    LMAN1 for ontologies           About GeneDecksing


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

    LMAN1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for LMAN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    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
    Products:
        
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMAN1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LMAN1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation0.77
    Post-translational protein modification0.44
    WNT ligand biogenesis and trafficking0.77
    Metabolism of proteins0.35
    Signaling by Wnt0.62
    2N-glycan antennae elongation in the medial/trans-Golgi
    Transport to the Golgi and subsequent modification0.56
    3Signaling by GPCR
    Signal Transduction0.55
    4Signaling events mediated by TCPTP
    Signaling events mediated by TCPTP
    5Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for LMAN1
        Signaling events mediated by TCPTP

    5/7        Reactome Pathways for LMAN1 (see all 7)
        Transport to the Golgi and subsequent modification
    Signaling by Wnt
    Asparagine N-linked glycosylation
    Signal Transduction
    Metabolism of proteins


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


    LMAN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LMAN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/17 Interacting proteins for LMAN1 (P492571, 2, 3 ENSP000002510474) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNX9Q9Y5X12, 3, ENSP000003760244MINT-61337 I2D: score=1 STRING: ENSP00000376024
    ERP44Q9BS262, 3, ENSP000002624554MINT-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
    VHLP403373, ENSP000002564744I2D: score=1 STRING: ENSP00000256474
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding TAS9546392
    GO:0006888ER to Golgi vesicle-mediated transport TAS9546392
    GO:0007030Golgi organization IMP18287528
    GO:0007596blood coagulation TAS9546392
    GO:0010638positive regulation of organelle organization IMP18287528

    LMAN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    LMAN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about LMAN1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/44 QIAGEN miScript miRNA 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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    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 

    24/424 AceView cDNA sequences (see all 424):

    BX345669 BX348814 AW467333 AA322752 BM721131 AI061097 AI986330 BU615294 
    H22341 BU153913 BX397093 BM984126 AA425690 BX399443 Z41542 AI074164 
    AA459481 AI923658 BQ012074 AA404702 BF508001 CR599221 AI683917 AA872645 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LMAN1 expression in normal human tissues (normalized intensities)      LMAN1 embryonic expression: see
    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 
     5/28 selected tissues (see all 28) fully expand
     
     Testis (Reproductive System)    fully expand to see all 5 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             uterus, post-menopause ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   

    See LMAN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LMAN1

    SOURCE GeneReport for Unigene cluster: Hs.465295

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

        SABiosciences Custom PCR Arrays for LMAN1
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LMAN1 gene from 7/16 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 85.79(n)1
    89(a)1
      18 (39.08 cM)5
    703611  NM_001172062.11  NP_001165533.11 
     659807545 
    chicken
    (Gallus gallus)
    Aves LMAN16
    protein ERGIC-53 precursor
    80(a)
    1 ↔ 1
    Z(942435-962360)
    lizard
    (Anolis carolinensis)
    Reptilia LMAN16
    lectin, mannose-binding, 1
    76(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
    CG6822-PA1
    39(a)3
    51.66(n)1
    43.2(a)1
      3 66D63
    446791  NM_080037.21  NP_524776.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K07A1.83
    ile-11
    P58 protein like3
    Protein ILE-11
    37(a)3
    49.13(n)1
    38.86(a)1
      I(9617873-9619588)3
    1727991  NM_060147.41  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)
    About This Section
    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

    LMAN1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/746 SNPs in LMAN1 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/30 diseases for LMAN1 (see all 30):    About MalaCards
    combined factor v and viii deficiency    factor v and factor viii, combined deficiency of    factor viii deficiency    hemophilia
    cerebral palsy    protein s deficiency    hepatitis b virus infection    aspergillosis
    hiv type 1    hepatitis b    fanconi's anemia    ulcerative colitis
    cystic fibrosis    crohn's disease    meningioma    cerebritis
    systemic lupus erythematosus    pneumonia    liver disease    anemia

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

    LMAN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for LMAN1 gene, integrated from 9 sources (see all 148):
    (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. (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. (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. (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. (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. (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. (1998)
    7. Crystal structure of the LMAN1-CRD/MCFD2 transport re ceptor complex provides insight into combined deficiency of factor V and factor VIII. (PubMed id 20138881)1, 2, 9 Wigren E....Lindqvist Y. (2010)
    8. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    9. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3998 HGNC: 6631 AceView: LMAN1 Ensembl:ENSG00000074695 euGenes: HUgn3998
    ECgene: LMAN1 Kegg: 3998 H-InvDB: LMAN1

    (According to HUGE)
    About This Section
      --

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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