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LMBRD1 Gene

protein-coding   GIFtS: 56
GCID: GC06M070385

LMBR1 Domain Containing 1

(Previous name: chromosome 6 open reading frame 209)
(Previous symbol: C6orf209)
  See LMBRD1-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
LMBR1 Domain Containing 11 2     MAHCF2 5
C6orf2091 2 3     Chromosome 6 Open Reading Frame 2091
NESI2 3 5     Hepatitis Delta Antigen-L Interacting Protein2
Nuclear Export Signal-Interacting Protein2 3     Liver Regeneration P-53 Related Protein2
HDAg-L-Interacting Protein NESI2 3     Probable Lysosomal Cobalamin Transporter2
LMBD12 5     LMBR1 Domain-Containing Protein 13

External Ids:    HGNC: 230381   Entrez Gene: 557882   Ensembl: ENSG000001682167   OMIM: 6126255   UniProtKB: Q9NUN53   

Export aliases for LMBRD1 gene to outside databases

Previous GC identifers: GC06M070443 GC06M067576


(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 LMBRD1 Gene:
This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin.
This protein also interacts with the large form of the hepatitis delta antigen and may be required for the
nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin
B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.(provided by RefSeq,
Oct 2009)

GeneCards Summary for LMBRD1 Gene:
LMBRD1 (LMBR1 domain containing 1) is a protein-coding gene. Diseases associated with LMBRD1 include cblf, and methylmalonic aciduria and homocystinuria type cblf. GO annotations related to this gene include cobalamin binding.

UniProtKB/Swiss-Prot: LMBD1_HUMAN, Q9NUN5
Function: Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its
conversion to cofactors. Isoform 3 may play a role in the assembly of hepatitis delta virus (HDV)

Gene Wiki entry for LMBRD1 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_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LMBRD1 gene promoter:
         HOXA9   HOXA9B   SREBP-1c   SREBP-1b   SREBP-1a   IRF-7A   Meis-1a   Pax-4a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLMBRD1 promoter sequence
   Search Chromatin IP Primers for LMBRD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LMBRD1


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

Entrez Gene cytogenetic band: 6q13   Ensembl cytogenetic band:  6q13   HGNC cytogenetic band: 6q13

LMBRD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LMBRD1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M070385:  view genomic region     (about GC identifiers)

Start:
70,385,641 bp from pter      End:
70,507,049 bp from pter
Size:
121,409 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: LMBD1_HUMAN, Q9NUN5 (See protein sequence)
Recommended Name: Probable lysosomal cobalamin transporter  
Size: 540 amino acids; 61389 Da
Subunit: Isoform 3 interacts with Hepatitis delta virus NES(HDAg-L)
Sequence caution: Sequence=AAK26247.1; Type=Frameshift; Positions=137;
Secondary accessions: A8K204 E1P531 Q5VUN6 Q86Y70 Q96FW4 Q9BY56 Q9NZD6
Alternative splicing: 4 isoforms:  Q9NUN5-1   Q9NUN5-2   Q9NUN5-3   Q9NUN5-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LMBRD1: NX_Q9NUN5

Explore proteomics data for LMBRD1 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn78, Asn88, Asn170, Asn347, Asn448, Asn457
  • Modification sites at PhosphoSitePlus

  • See LMBRD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060838.3  
    ENSEMBL proteins: 
     ENSP00000359609   ENSP00000359602   ENSP00000433385  
    Reactome Protein details: Q9NUN5

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR006876 LMBR1-like_membr_prot

    Graphical View of Domain Structure for InterPro Entry Q9NUN5

    ProtoNet protein and cluster: Q9NUN5

    UniProtKB/Swiss-Prot: LMBD1_HUMAN, Q9NUN5
    Similarity: Belongs to the LIMR family. LMBRD1 subfamily


    Find genes that share domains with LMBRD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: LMBD1_HUMAN, Q9NUN5
    Function: Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its
    conversion to cofactors. Isoform 3 may play a role in the assembly of hepatitis delta virus (HDV)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031419cobalamin binding IEA--
         
    Find genes that share ontologies with LMBRD1           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Lmbrd1 (no phenotypes)

    Find genes that share phenotypes with LMBRD1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for LMBRD1

    miRNA
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    miRTarBase miRNAs that target LMBRD1:
    hsa-mir-335-5p (MIRT019020)

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    1 qRT-PCR Assays for microRNA that regulate LMBRD1:
    hsa-miR-1299
    SwitchGear 3'UTR luciferase reporter plasmidLMBRD1 3' UTR sequence
    Inhib. RNA
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    (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
    LMBD1_HUMAN, Q9NUN5: Lysosome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    plasma membrane3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with LMBRD1           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 LMBRD1 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Metabolism
    Metabolism0.38
    3Vitamin digestion and absorption
    Vitamin digestion and absorption
    4Disease
    Disease


    Find genes that share SuperPaths with LMBRD1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for LMBRD1
        Cobalamin (Cbl, vitamin B12) transport and metabolism


    1 Kegg Pathway  (Kegg details for LMBRD1):
        Vitamin digestion and absorption

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LMBRD1
    Interactions:

        Search GeneGlobe Interaction Network for LMBRD1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for LMBRD1 (ENSP000003596094) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006810transport IEA--
    GO:0009235cobalamin metabolic process TAS--
    GO:0016032viral process IEA--

    Find genes that share ontologies with LMBRD1           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 LMBRD1 (LMBD1)



    (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 LMBRD1 gene: 
    NM_018368.3  

    Unigene Cluster for LMBRD1:

    LMBR1 domain containing 1
    Hs.271643  [show with all ESTs]
    Unigene Representative Sequence: AB074281
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370577(uc010kal.3 uc003pfa.3 uc003pfb.3) ENST00000370570(uc003pez.3)
    ENST00000472827
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate LMBRD1:
    hsa-miR-1299
    SwitchGear 3'UTR luciferase reporter plasmidLMBRD1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat LMBRD1
      QuantiFast Probe-based Assays in human, mouse, rat LMBRD1

    Additional mRNA sequence: 

    AB074281.1 AF113224.1 AF208863.1 AF211480.1 AK002102.1 AK225187.1 AK225537.1 AK290069.1 
    AY136817.1 BC047073.1 BX647737.1 

    19 DOTS entries:

    DT.100037108  DT.100788689  DT.416652  DT.101977488  DT.91650685  DT.100719931  DT.95225381  DT.100788684 
    DT.100788690  DT.121358132  DT.40131423  DT.121358112  DT.121358159  DT.121358059  DT.121358096  DT.121358101 
    DT.433274  DT.92443785  DT.92443791 

    Selected AceView cDNA sequences (see all 242):

    BG565225 CB998672 BM354027 BX452524 CA867502 BQ721814 BM142293 AI419387 
    BQ439774 BI711177 CF265153 AI031904 BQ287809 CR618396 BQ286780 AI719353 
    AA459012 BC047073 AA721753 AI159832 CR595980 AK002102 AI566027 BU072102 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for LMBRD1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b
    SP1:                    -                                                                                                   
    SP2:                                                                                                                        
    SP3:                    -           -     -                                         -                                       


    ECgene alternative splicing isoforms for LMBRD1

    (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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    LMBRD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTATGTAAAT
    LMBRD1 Expression
    About this image


    LMBRD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Lung (Respiratory System)
     
     Thyroid (Endocrine System)
     
     Ovary (Reproductive System)
     
     Adrenal Gland (Endocrine System)
    LMBRD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LMBRD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.271643

    UniProtKB/Swiss-Prot: LMBD1_HUMAN, Q9NUN5
    Tissue specificity: Isoform 3 is expressed in liver

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    In Situ
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    (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 chordates.

    Orthologs for LMBRD1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lmbrd11 , 5 LMBR1 domain containing 11, 5 85.76(n)1
    93.47(a)1
      1 (10.18 cM)5
    684211  NM_026719.21  NP_080995.21 
     246785445 
    chicken
    (Gallus gallus)
    Aves LMBRD11 LMBR1 domain containing 1 77.78(n)
    82.85(a)
      421874  NM_001006413.1  NP_001006413.1 
    lizard
    (Anolis carolinensis)
    Reptilia LMBRD16
    LMBR1 domain containing 1
    82(a)
    1 ↔ 1
    1(167029138-167114258)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3984682 hypothetical protein LOC398468 78.9(n)    BC054294.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CK026834.12   -- 72.96(n)    CK026834.1 


    ENSEMBL Gene Tree for LMBRD1 (if available)
    TreeFam Gene Tree for LMBRD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (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)
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    Selected SNPs for LMBRD1 (see all 2371)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs30702361,2
    C--67585942(+) CACACAT/-GTTTG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs10316291,2
    C,F,H--67585943(-) CAAACA/GTGTGT 1 -- int112Minor allele frequency- G:0.41NA NS EA 790
    rs1422379251,2
    C--67589203(+) CAGAG-/TATTTT 1 -- int10--------
    rs624089871,2
    C,F--67595991(+) TCTGAC/AATTTT 1 -- int13Minor allele frequency- A:0.50NA WA 6
    rs1125466911,2
    C--67595991(+) TCTGA-/CATTTT 1 -- int11Minor allele frequency- C:0.00CSA 2
    rs720874721,2
    C--67603097(+) CACAG-/ACACACA 1 -- int10--------
    rs1439819681,2
    C--67617673(+) AAACT-/TTAA  
            
    TTATT
    1 -- int10--------
    rs605411591,2
    C--67625178(+) AAAAA-/A/AA  
            
    CACTA
    1 -- int11NA 2
    rs1836673981,2
    C--67640719(+) TTTTTA/TAAAAA 1 -- int10--------
    rs344597691,2
    C--67642361(+) GCAATC/-TCAGC 1 -- int11Minor allele frequency- -:0.00CSA 2

    HapMap Linkage Disequilibrium report for LMBRD1 (70385641 - 70507049 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for LMBRD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2038631CNV Deletion18987734
    esv2732253CNV Deletion23290073
    esv999346CNV Deletion20482838
    nsv830682CNV Loss17160897
    nsv819863CNV Loss19587683
    nsv886140CNV Gain21882294

    Human Gene Mutation Database (HGMD): LMBRD1
    Locus Specific Mutation Databases (LSDB): LMBRD1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LMBRD1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612625   
    OMIM disorders: 277380  
    UniProtKB/Swiss-Prot: LMBD1_HUMAN, Q9NUN5
  • Methylmalonic aciduria and homocystinuria type cblF (MMAHCF) [MIM:277380]: A disorder of cobalamin
    metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin
    (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors.
    Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria
    responsive to vitamin B12. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for LMBRD1:    
    About MalaCards
    cblf    methylmalonic aciduria and homocystinuria type cblf    hepatitis    homocystinuria
    megaloblastic anemia    disorders of intracellular cobalamin metabolism


    Find genes that share disorders with LMBRD1           About GenesLikeMe

    GeneTests: LMBRD1
    GeneReviews: LMBRD1
    Genetic Association Database (GAD): LMBRD1

    Export disorders for LMBRD1 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 LMBRD1 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with LMBRD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. (PubMed id 19136951)1, 2, 3 Rutsch F.... Nuernberg P. (Nat. Genet. 2009)
    2. Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus. (PubMed id 15956556)1, 2 Wang Y.-H.... Chang M.-F. (J. Virol. 2005)
    3. 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. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    6. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    7. Nuclear export signal-interacting protein forms complexes with lamin A/C-Nups to mediate the CRM1-independent nuclear export of large hepatitis delta antigen. (PubMed id 23175358)1 Huang C....Chang M.F. (J. Virol. 2013)
    8. LMBD1 protein serves as a specific adaptor for insulin receptor internalization. (PubMed id 24078630)1 Tseng L.T....Chang M.F. (J. Biol. Chem. 2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism. (PubMed id 21303734)1 Miousse I.R....Rosenblatt D.S. (Mol. Genet. Metab. 2011)

    (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: 55788 HGNC: 23038 AceView: C6orf209 Ensembl:ENSG00000168216 euGenes: HUgn55788
    ECgene: LMBRD1 Kegg: 55788 H-InvDB: LMBRD1

    (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)
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    NameDescription
    PharmGKB entry for LMBRD1 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 LMBRD1 gene:
    Search GeneIP for patents involving LMBRD1

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



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