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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
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
    Physical map
    ST7L 1p12 suppression of tumorigenicity 7 like CAPZA1 1p13.1 capping protein (actin filament) muscle Z-line, alpha 1 MRPL53P1 1p13.2 capping protein (actin filament) muscle Z-line, alpha 1 MOV10 1p13.1 Mov10, Moloney leukemia virus 10, homolog (mouse) ARHC 1p21-p13 ras homolog gene family, member C LOC284467 1p13.1 TAFA3 MGC19531 1p13.1 hypothetical protein MGC19531 LOC128322 1p13.1 similar to Nuclear transport factor 2 (NTF-2) (Placental protein 15) (PP15) LOC388666 1 hypothetical gene supported by AK093435 SLC16A1 1p13.2-p12 solute carrier family 16 (monocarboxylic acid transporters), member 1 LRIG2 1p13.1 leucine-rich repeats and immunoglobulin-like domains 2 RPS19P2 1p13.1 ribosomal protein S19 pseudogene 2 MAGI-3 1p12-p11.2 membrane-associated guanylate kinase-related (MAGI-3) PHTF1 1p13-p11 putative homeodomain transcription factor 1 FLJ11220 1p13.1 hypothetical protein FLJ11220 PTPN22 1p13.3-p13.1 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) LOC148280 1p13.1 hypothetical LOC148280 AP4B1 1p11.2 adaptor-related protein complex 4, beta 1 subunit DCLRE1B 1p11.2 DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae) HIPK1 1p12 DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae) HNOEL-iso 1p13.1 HNOEL-iso protein SYT6 1p13.1 synaptotagmin VI MRP63P1 1p13.1 mitochondrial ribosomal protein 63 pseudogene 1 LOC391067 1 LOC391067 TRIM33 1p13.1 tripartite motif-containing 33 LOC347675 1p13.1 eukaryotic translation initiation factor 2 beta-like pseudogene LOC339395 1p13.1 similar to Pyruvate kinase, M2 isozyme BCAS2 1p21-p13.3 breast carcinoma amplified sequence 2 FLJ37099 1p13.1 FLJ37099 protein AMPD1 1p13 adenosine monophosphate deaminase 1 (isoform M) NRAS 1p13.2 neuroblastoma RAS viral (v-ras) oncogene homolog D1S155E 1p22 NRAS-related gene FLJ21168 1p13.1 hypothetical protein FLJ21168 SYCP1 1p13 synaptonemal complex protein 1 TSHB 1p13 thyroid stimulating hormone, beta TSPAN-2 1p13.1 tetraspan 2
    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