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FLASH GENE
Symbol LMBRD1 contributors: mct - updated : 10-11-2017
HGNC name LMBR1 domain containing 1
HGNC id 23038
Corresponding disease
MMACHF methylmalonic aciduria and homocystinuria, cblF type
Location 6q13      Physical location : 70.385.641 - 70.507.049
Genatlas name limb region 1 (LMBR1) domain containing 1
Synonym name
  • chromosome 6 open reading frame 209
  • liver regeneration p-53 related protein
  • nuclear export signal-interacting protein
  • HDAg-L-interacting protein NESI
  • Synonym symbol(s) C6orf209, FLJ11240, bA810I22.1, RP11-810I22.1, LMBD1, cblF, NESI
    DNA
    TYPE functioning gene
    STRUCTURE 121.14 kb     16 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 2308 61.2 540 - 2009 19136951
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver     Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • nine putative transmembrane domains
  • HOMOLOGY
    intraspecies homolog to significant homology to lipocalin receptors
    Homologene
    FAMILY
  • LIMR family
  • LMBRD1 subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • lysosomal membrane exporter for cobalamin
  • possibly acting as a lysosomal exporter for cobalamin, perhaps with the help of an as-yet-undefined binding protein
  • is a lysosomal membrane exporter for cobalamin
  • likely involved in the lysosome in aiding the export of cobalamin
  • plays a regulatory role in the plasma membrane
  • plays an imperative role in mediating and regulating the endocytosis of the INSR
  • predicted lysosomal cobalamin transport protein
  • intact function of LMBRD1 is essential for the initiation of gastrulation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • LMBRD1 interacts with AP2 and is involved in the unique clathrin-mediated endocytosis of the INSR
  • ABCD4 interacts with LMBRD1 and then localizes to lysosomes, and this translocation depends on the lysosomal targeting ability of LMBRD1
  • ABCD4 lysosomal targeting depends on co-expression of, and interaction with, LMBD1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMACHF
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in human LMBRD1 and ABCD4 prevent lysosomal export of vitamin B(12) to the cytoplasm, impairing the vitamin B(12)-dependent enzymes methionine synthase and methylmalonyl-CoA mutase
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • complete loss of Lmbrd1 function is accompanied by early embryonic death in mice