Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

LMAN1 Gene

protein-coding   GIFtS: 64
GCID: GC18M056969

lectin, mannose-binding, 1

(Previous name: coagulation factor V-factor VIII combined deficiency )
(Previous symbol: F5F8D)
 Explore 36 diseases affiliated with
LMAN1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for LMAN1    

Aliases
for LMAN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Lectin, Mannose-Binding, 11 2     Intracellular Mannose-Specific Lectin MR602 3
ERGIC531 2 3 5     ER-Golgi Intermediate Compartment 53 KDa Protein2 3
F5F8D1 2 3 5     Coagulation Factor V-Factor VIII Combined Deficiency1
MCFD11 2 5     Endoplasmic Reticulum-Golgi Intermediate Compartment Protein 532
ERGIC-531 2     Intracellular Mannose Specific Lectin2
FMFD11 2     Protein ERGIC-532
MR601 2     Gp583
Gp583     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


Summaries
for LMAN1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  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 plasmid: LMAN1 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

Proteins
for LMAN1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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;
2 PDB 3D structures from and Proteopedia for LMAN1:
3A4U (3D)        3LCP (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

Post-translational modifications:

  • The N-terminal may be partly blocked1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P49257

    • LMAN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005561.1  
    ENSEMBL proteins: 
     ENSP00000251047  
    Reactome Protein details: P49257
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: LMAN1
    OriGene Protein Over-expression Lysate: LMAN1
    OriGene Custom Protein Services for LMAN1 
    GenScript Custom Purified and Recombinant Proteins Services for LMAN1
    Novus Biologicals LMAN1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for LMAN1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005792microsome ----
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IDA15308636


    LMAN1 for ontologies           About GeneDecksing



    LMAN1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies (see all 6): LMAN1
    OriGene Custom Antibody Services for LMAN1 
    GenScript Custom Superior Antibodies Services for LMAN1
    Novus Biologicals LMAN1 Antibodies
    Abcam antibodies for LMAN1 
    Uscn Antibodies for LMAN1
    ThermoFisher Antibody for LMAN1

    Assay Products for LMAN1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for LMAN1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for LMAN1

    Protein Domains /
    Families
    for LMAN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    LMAN1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: 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


    Function
    for LMAN1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: LMAN1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LMAN1
    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 plasmid: LMAN1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LMAN1 (see all 7)
    OriGene shRNA RFP: LMAN1
    OriGene siRNA: LMAN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LMAN1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for LMAN1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LMAN1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LMAN1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: LMAN1 (NM_005570)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LMAN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LMAN1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for LMAN1
    Search LifeMap BioReagents cell lines for LMAN1

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

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18287528
    GO:0005537mannose binding TAS7876089
    GO:0042802identical protein binding ----
    GO:0046872metal ion binding IEA--
    GO:0051082unfolded protein binding TAS9546392


    LMAN1 for ontologies           About GeneDecksing


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

    LMAN1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for LMAN1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Asparagine N-linked glycosylation
    		Asparagine N-linked glycosylation1.00
    		Metabolism of proteins0.15
    		Post-translational protein modification0.44
    2Signaling events mediated by TCPTP
    		Signaling events mediated by TCPTP1.00
    3Protein processing in endoplasmic reticulum
    		Protein processing in endoplasmic reticulum1.00
    4N-glycan antennae elongation in the medial/trans-Golgi
    		Transport to the Golgi and subsequent modification0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for LMAN1 
        Signaling events mediated by TCPTP

    4        Reactome Pathways for LMAN1
        Transport to the Golgi and subsequent modification
    Asparagine N-linked glycosylation
    Metabolism of proteins
    Post-translational protein modification


    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



    Drugs & Compounds
    for LMAN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for LMAN1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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
    Products:             		 OriGene 3'-UTR Clone: LMAN1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LMAN1
    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 plasmid: LMAN1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LMAN1 (see all 7)
    OriGene shRNA RFP: LMAN1
    OriGene siRNA: LMAN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LMAN1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LMAN1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LMAN1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: LMAN1 (NM_005570)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LMAN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LMAN1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LMAN1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LMAN1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LMAN1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMAN1

    Additional cDNA 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.100714983  DT.100775782  DT.100803243  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):

    BU626954 W85906 AW340515 CR592087 AI683917 F01830 BX399443 AA425690 
    AA452845 CB119446 AW272648 AI074164 BX104691 AI280513 AU127736 AA725421 
    AA329495 AA333292 BG168053 BX399731 AW467333 AA344053 Z41542 BU615294 

    GeneLoc Exon Structure


    Expression
    for LMAN1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCTTATTGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    LMAN1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    Reproductive SystemEarly GonadTestis Somatic CellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LMAN1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LMAN1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LMAN1
    QIAGEN 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
    for LMAN1 gene

    (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 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves LMAN16
    		 lectin, mannose-binding, 1
    		 79(a)
    		 1 ↔ 1
    		 Z(818880-839117)
    lizard
    (Anolis carolinensis)    		 Reptilia LMAN16
    		 --
    		 77(a)
    		 1 ↔ 1
    		 GL343335.1(941525-960852)
    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
    for LMAN1 gene

    (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



    Genomic Variants
    for LMAN1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/602 NCBI SNPs in LMAN1 are shown (see all 602)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs42731431,2
    		H--53704055(+) CACTTC/TTGCCA 1 -- ds50014Minor allele frequency- T:0.00NS EA 392
    rs347532061,2
    		C,F,--53705184(+) AGGTTG/TTCTGA 1 -- ut314Minor allele frequency- T:0.09NA 126
    rs346799961,2
    		C,F,--53705202(+) CGCCAT/CGACCC 1 -- ut314Minor allele frequency- C:0.10NA CSA WA 242
    rs72362941,2
    		C,F,A,--53705372(+) CATTAC/TGCAAT 1 -- ut312Minor allele frequency- T:0.11WA NA 238
    rs72391871,2
    		C,--53705526(+) GAAATG/CAAAGA 1 -- ut313Minor allele frequency- C:0.10CSA WA NA 240
    rs747351021,2
    		--53705668(+) TTTTCA/GAGCAA 1 -- ut312Minor allele frequency- G:0.03CSA WA 119
    rs10433341,2
    		C,F,A,H,--53705790(-) TATACA/CTTTTT 1 -- ut3120Minor allele frequency- C:0.10MN NS EA NA WA 2496
    rs80964381,2
    		--53705936(+) ATTTAA/TTTTTT 1 -- ut310--------
    rs413311481,2
    		C,--53706729(+) CTCAGA/CTCATG 1 -- ut310--------
    rs10433201,2
    		C--53706830(-) GGGGTA/CAGGTC 1 -- ut31 ese30--------

    HapMap Linkage Disequilibrium report for LMAN1 (56995055 - 57027194 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for LMAN1: --
    Human Gene Mutation Database (HGMD): LMAN1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LMAN1
    DNA2.0 Custom Variant and Variant Library Synthesis for LMAN1

    Disorders / Diseases
    for LMAN1 gene

    (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.)
    About This Section
    LMAN1 for disorders           About GeneDecksing

    OMIM gene information: 601567   
    OMIM disorders: 227300  
    UniProtKB/Swiss-Prot: LMAN1_HUMAN, P49257
  • Defects in LMAN1 are THE cause of factor V and factor VIII combined deficiency type 1 (F5F8D1) [MIM:227300];
    • also known as multiple coagulation factor deficiency I (MCFD1). F5F8D1 is an autosomal recessive 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

    20/36 diseases for LMAN1 (see all 36):    About MalaCards
    factor v and factor viii    factor v and factor viii, combined deficiency of    factor viii deficiency    combined factor v and viii deficiency
    hemophilia    systemic lupus erythematosus    lupus erythematosus    protein s deficiency
    cerebral palsy    fanconi's anemia    bleeding disorder    ulcerative colitis
    cystic fibrosis    aspergillosis    stomatitis    crohn's disease
    hepatitis b    anemia    liver disease    fibrosis

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

    6 Novoseek 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

    Publications
    for LMAN1 gene

    (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 140):
    (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. Oligomerization and interacellular localization of the glycoprotein receptor ERGIC-53 is independent of disulfide bonds. (PubMed id 16257008)1, 2 Neve E.P....Pettersson R.F. (2005)
    9. Prospective analysis of mannose-binding lectin genotypes and coronary artery disease in American Indians: the Strong Heart Study. (PubMed id 14732744)1, 4 Best L.G....Ferrell R.E. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for LMAN1 gene

    (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)

    Genome Databases showing LMAN1 gene

    (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

    Other Databases showing LMAN1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing LMAN1 gene

    (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

    Intellectual Property
    for LMAN1 gene

    (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



    Products
    for LMAN1 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for LMAN1   OriGene shRNA RFP for LMAN1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LMAN1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LMAN1  
     OriGene Protein Over-expression Lysate for LMAN1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for LMAN1   OriGene 3'-UTR Clone for LMAN1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LMAN1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LMAN1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for LMAN1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for LMAN1   OriGene Custom Protein Services for LMAN1  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat LMAN1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LMAN1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LMAN1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LMAN1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMAN1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LMAN1
     GenScript Custom Purified and Recombinant Proteins Services for LMAN1 GenScript cDNA clones with any tag delivered in your preferred vector for LMAN1
     GenScript Custom Assay Services for LMAN1 GenScript Custom Superior Antibodies Services for LMAN1
     GenScript Custom overexpressing Cell Line Services for LMAN1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in LMAN1 promoter
     Search Chromatin IP Primers for LMAN1
     RT2 qPCR Primer Assay in human, mouse, rat LMAN1
     GNC Network for LMAN1
     SABiosciences Custom PCR Arrays for LMAN1
     Search Tocris compounds for LMAN1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     LMAN1 antibodies
     LMAN1 lysates
     Antibodies for LMAN1
     See all of Abcam's Antibodies, Kits and Proteins for LMAN1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     LMAN1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for LMAN1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMAN1
     SwitchGear 3'UTR luciferase reporter plasmids for LMAN1
     SwitchGear Promoter luciferase reporter plasmids for LMAN1
     ThermoFisher Antibody for LMAN1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LMAN1
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      LMAN1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4