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FLASH GENE
Symbol APOB contributors: mct/ - updated : 24-11-2020
HGNC name apolipoprotein B (including Ag(x) antigen)
HGNC id 603
Corresponding disease
FDB familial defective apolipoprotein B100
FHBL1 familial hypobetalipoproteinemia type 1
Location 2p24.1      Physical location : 21.224.301 - 21.266.945
Synonym name
  • apolipoprotein B48
  • apolipoprotein B-100
    • Synonym symbol(s) APOB-48, APOB-100, FLDB, LDLCQ4, FCHL2
    EC.number 3.5.4.5
    DNA
    TYPE functioning gene
    STRUCTURE 42.64 kb     29 Exon(s)    1 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure flanked by sequences binding to nuclear matrix between nuclear sensitive and resitant chromatin
    MAPPING cloned Y linked Y status confirmed
    Map pter - D2S1 ,D2S49 - APOB - D2S27 ,D2S6 ,D2S19 - cen
    RNA
    TRANSCRIPTS type messenger
    text
  • intestinal-specific post-transcriptional modification of a unique transcript
  • occurs in the plasma in 2 main isoforms, apoB-48 and apoB-100
    • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 - 14121 515 4563 in the liver 1988 2450346
    also called APO-B100
    - - - 48 - intestine 2002 12070165
  • intestinal specific post-transcriptional modification of the transcript
  • creating of an earlyer stop codon
  • represents the N-terminal of apoB-100 and the C-terminusis in the vicinity of AAs 2151 of mature apoB-100
    		•
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine     Homo sapiens
     liver     Homo sapiens
    Lymphoid/Immunespleen   highly
    Visualeyeanterior segmentcornea  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveepithelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		edited two forms B100 (liver), B48 (intestine) with:
  • proteoglycan binding site in the amino-terminal region
  • heparin-binding domain
  • LDL-receptor binding domain
    • conjugated GlycoP
    isoforms Precursor 4536 AA for the mature form APOB-100
    HOMOLOGY
    interspecies homolog to murine Apob (70.95 pc)
    homolog to rattus Apob (70.39 pc)
    Homologene
    FAMILY
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    intracellular,nuclear envelope
    text binding to nuclear matrix
    basic FUNCTION
  • conferring high level and position independent expression of ApoB, likely functioning as an insulator element
  • major protein component of very low density lipoprotein (VLDL) and low density lipoproteins, and is essential for the assembly and secretion of nascent VLDL particles
  • is a large, amphipathic protein that plays a central role in lipoprotein metabolism
  • having no chromatin-modifying activity
  • central role of arterial retention of cholesterol-rich APOB-containing lipoproteins in the pathogenesis of atherosclerosis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    involved in the cholesterol metabolism
    a component
  • major component of chylomicrons, VLDL, LDL
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FAF2 and DERL1 bind with each other and with lipidated APOB and show colocalization around lipid droplets (LDs)
  • MTTP prevents APOB degradation and favors its assembly into lipoproteins
  • critical role of ELAVL1 in regulating lipid transport and ATP synthesis, by regulating the splicing of APOB mRNA and the translation of UQCRB and NDUFB6
    • cell & other
    REGULATION
    Other post-translationnal palmitoylation
    DERL1 and FAF2 are engaged in dislocation and degradation of lipidated APOB at lipid droplets
    ASSOCIATED DISORDERS
    corresponding disease(s) FHBL1 , FDB
    Susceptibility myocardial infarction
    Variant & Polymorphism insertion/deletion in the signal peptide, which is a linkage marker for a gene conferring increased risk of type II diabetes
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS