Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol AP4B1 contributors: npt/shn - updated : 06-02-2012
HGNC name adaptor-related protein complex 4, beta 1 subunit
HGNC id 572
Corresponding disease
CPSQ5 Cerebral Plasy Spastic Quadriplegic 5
SPG47 spastic paraplegia 47
Location 1p13.2      Physical location : 114.437.676 - 114.447.741
Synonym name
  • beta 4 subunit of AP-4
  • Beta4-adaptin
  • AP-4 complex subunit beta-1
  • Synonym symbol(s) BETA-4, SPG47, CPSQ5
    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