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FLASH GENE
Symbol AP3D1 contributors: mct/npt - updated : 27-01-2017
HGNC name adaptor-related protein complex 3, delta 1 subunit
HGNC id 568
Corresponding disease
HPS10 Hermansky-Pudlak syndrome 10
Location 19p13.3      Physical location : 2.100.993 - 2.151.556
Synonym name
  • delta-adaptin
  • AP-3 complex subunit delta
  • subunit of putative vesicle coat adaptor complex AP-3
  • Synonym symbol(s) ADTD, AP3D, HPS10, hBLVR
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 50.63 kb     31 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    APCL 19p13.3 similar to fos39347_1 FLJ36666 19p13.3 hypothetical protein FLJ36666 PCSK4 19p proprotein convertase subtilisin/kexin type 4 DP1L1 19p13.3 polyposis locus protein 1-like 1 LOC339366 19p13.3 hypothetical protein LOC339366 LOC126520 19p13.3 hypothetical protein LOC126520 MBD3 19p13.3 methyl-CpG binding domain protein 3 UQCR 19p13.3 ubiquinol-cytochrome c reductase (6.4kD) subunit TCF3 19p13.3 transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) LOC126435 19p13.3 hypothetical LOC126435 LOC390874 19 similar to onecut 3 ATP8B3 19p13.3 ATPase, Class I, type 8B, member 3 EloA-BP1 KLF16 19p13.3 Kruppel-like factor 16 MGC5244 19p13.3 hypothetical protein MGC5244 SCAMP-4 19p13.3 secretory carrier membrane protein 4 LOC113179 19p13.3 hypothetical protein BC011824 MGC39696 19p13.3 hypothetical protein MGC39696 CSNK1G2 19p13.3 casein kinase 1, gamma 2 BTBD2 19p13.3 BTB (POZ) domain containing 2 MKNK2 19p13.3 MAP kinase-interacting serine/threonine kinase 2 moblak IMAGE:4215339 19p13.3 hypothetical protein IMAGE:4215339 AP3D1 19p13.3 adaptor-related protein complex 3, delta 1 subunit DOT1L 19p13.3 adaptor-related protein complex 3, delta 1 subunit SF3A2 19p13.3 splicing factor 3a, subunit 2, 66kDa GNRPX 19p13.3 likely ortholog of mouse guanine nucleotide releasing protein x AMH 19p13.3 anti-Mullerian hormone FLJ32416 19p13.3 homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45 OAZ1 19p13.3 ornithine decarboxylase antizyme 1 FLJ45778 19p13.3 FLJ45778 protein LOC388489 19 hypothetical gene supported by AK091795 LSM7 19p13.3 LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) SPPL2B 19p13.3 LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) LOC360200  polyserase 1 TIMM13 19p13.3 translocase of inner mitochondrial membrane 13 homolog (yeast) LMNB2 19p13.3 lamin B2 GADD45B 19p13.3 growth arrest and DNA-damage-inducible, beta FLJ00058 19p13.3 hypothetical protein FLJ00058 GNG7 19p13.3 guanine nucleotide binding protein (G protein), gamma 7 LOC390875 19 similar to fos39347_1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    30 splicing 4887 130.2 1153 - 1999 10559961
    31 splicing 4741 - 1112 - 1999 10559961
    32 splicing 5073 - 1215 - 1999 10559961
    - splicing - - - - 1999 10559961
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrinepancreas   highly
    Reproductivemale systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies homolog to murine Ap3d
    Homologene
    FAMILY
  • adaptator complexes large subunit family
  • CATEGORY adaptor , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • vesicle coat protein
  • basic FUNCTION
  • involved in intracellular transport
  • eye pigment biosynthesis
  • faciliting the budding of vesicles from the Golgi membrane
  • involved in trafficking to lysosomes
  • could be involved in the regulation of progenitor cell competence and the eventual ratio of resulting differentiated cells
  • plays an alternative role in HIV-1 assembly
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text
  • vesicle transport
  • PATHWAY
    metabolism
    signaling
    a component
  • component of the AP-3 complex being an heterotetramer
  • composed of two large chains (delta and beta 3), a medium chain (mu3) and a small chain (sigma 3)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
  • complex associated with the Golgi region as well as more peripheral structures
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HPS10
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    reduced significantly viral particle release from HIV-1-infected dendritic cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ap3d-deletion mutant (Mocha) mouse undergoes rapid photoreceptor degeneration leading to blindness soon after birth