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FLASH GENE
Symbol AP4B1 contributors: npt/shn - updated : 06-02-2012
HGNC name adaptor-related protein complex 4, beta 1 subunit
HGNC id 572
DNA
TYPE functioning gene
STRUCTURE 10.37 kb     11 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map pter - D1S487 - D1S2756 - AP4B1 - D1S2881 - D1S1675 - cen
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 splicing 2723 - 739 - -
11 splicing 2663 - 640 - -
11 splicing 2791 - 739 - -
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly Homo sapiens
Digestiveintestinesmall intestine  moderately Homo sapiens
 intestinelarge intestinecolon moderately Homo sapiens
 liver   lowly Homo sapiens
Endocrinepancreas   highly Homo sapiens
Lymphoid/Immunespleen   highly Homo sapiens
 thymus   moderately Homo sapiens
Nervousbrain   moderately Homo sapiens
Reproductivefemale systemplacenta  lowly Homo sapiens
 female systemovary  highly Homo sapiens
 male systemprostate  lowly Homo sapiens
 male systemtestis  highly Homo sapiens
Respiratorylung   lowly Homo sapiens
Urinarykidney   lowly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal moderately Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , tetramer
HOMOLOGY
interspecies ortholog to Ap4b1, Mus musculus
ortholog to Ap4b1, Rattus norvegicus
ortholog to AP4B1, Pan troglodytes
Homologene
FAMILY
  • adaptor complexes large subunits family
  • CATEGORY adaptor , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • mediating protein sorting in the endocytic and late secretory pathways (
  • involved in targeting proteins from the trans Golgi network to the endosomal-lysosomal system
  • a crucial role in brain development and functioning (
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • non selective vesicle transport
  • associated with the trans Golgi network
  • PATHWAY
    metabolism
    signaling
    a component
  • a role in signal-mediated trafficking of integral membrane proteins in mammalian cells
  • subunit of a novel type of clathrin-associted protein coat
  • heterotetramer composed of two large chains (epsilon/AP4E1 and beta/AP4B1), a medium chain (MU/AP4M1) and a small chain (sigma AP4S1)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • epsilon subunit of AP-4 (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG47 , CPSQ5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS