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FLASH GENE
Symbol APOB contributors: mct/ - updated : 03-05-2010
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
    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
    Physical map
    RDH14 2p24.1 retinol dehydrogenase 14 (all-trans and 9-cis) NT5C1B 2p24.1 5'-nucleotidase, cytosolic IB LOC388927 2 LOC388927 OSR1 3p22-p21.3 oxidative-stress responsive 1 LOC130500 2p24.3 similar to Uncharacterized hematopoietic stem/progenitor cells protein MDS029 LOC130502 2p24.3 similar to CG14894-PA KIAA1336 2p24.3 KIAA1336 protein MATN3 2p24-p23 matrilin 3 LAPTM4A 2p24.3 lysosomal-associated protein transmembrane 4 alpha LOC391355 2 similar to 40S ribosomal protein S16 SDC1 2p24.1 syndecan 1 LOC151457 2p24.3 similar to GTP-binding protein PUM2 2p22-p21 pumilio homolog 2 (Drosophila) ARHB 2pter-p12 ras homolog gene family, member B LOC151451 2p24.2 hypothetical LOC151451 LOC388928 2 similar to hypothetical protein LOC91942 FLJ14249 2p24.2 HS1-binding protein 3 GDF7 2p23-p24 growth differentiation factor 7 FLJ21820 2p24.2 hypothetical protein FLJ21820 APOB 2p24-p23 apolipoprotein B (including Ag(x) antigen) LOC388929 2 similar to tudor domain containing 6 protein LOC388930 2 LOC388930
    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
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly
    Visualeyeanterior segmentcornea  
    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,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
  • having no chromatin-modifying activity
  • 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)
  • 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