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    AP3D1 adaptor related protein complex 3 subunit delta 1 [ Homo sapiens (human) ]

    Gene ID: 8943, updated on 4-Jul-2021

    Summary

    Official Symbol
    AP3D1provided by HGNC
    Official Full Name
    adaptor related protein complex 3 subunit delta 1provided by HGNC
    Primary source
    HGNC:HGNC:568
    See related
    Ensembl:ENSG00000065000 MIM:607246
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ADTD; HPS10; hBLVR
    Summary
    The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]
    Expression
    Ubiquitous expression in testis (RPKM 31.2), kidney (RPKM 22.6) and 25 other tissues See more
    Orthologs
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    Genomic context

    See AP3D1 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (2100988..2151566, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2100987..2151565, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MOB kinase activator 3A Neighboring gene IZUMO family member 4 Neighboring gene DOT1 like histone lysine methyltransferase Neighboring gene pleckstrin homology domain containing J1 Neighboring gene microRNA 1227

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
    GeneReviews: Not available
    Hermansky-Pudlak syndrome 10
    MedGen: C4310746 OMIM: 617050 GeneReviews: Hermansky-Pudlak Syndrome
    Compare labs

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify adaptor-related protein complex 3 delta 1 subunit (AP3D1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Envelope surface glycoprotein gp160, precursor env In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify adaptor-related protein complex 3 delta 1 subunit (AP3D1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify adaptor-related protein complex 3 delta 1 subunit (AP3D1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    nef HIV-1 Nef co-localizes with the delta subunit of adaptor protein complex 3 (AP-3) in a juxtanuclear region near the cell center of HeLa cells PubMed
    nef The dileucine residues and glutamic acid residue of the EXXXLL motif in HIV-1 Nef (amino acid residues 159-165) are required for Nef binding and stabilization of AP-3 PubMed
    Pr55(Gag) gag The matrix region (residues 1-133) of HIV-1 Gag interacts directly with the delta subunit of the AP-3 complex, and this interaction is required for Gag trafficking to multivesicular bodies PubMed
    gag Tandem affinity purification and mass spectrometry analysis identify adaptor-related protein complex 3 delta 1 subunit (AP3D1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    gag In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed
    gag AP3D1 deficiency in HPS2 fibroblasts inhibits HIV-1 Gag assembly and release PubMed
    matrix gag NMR analysis shows that HIV-1 Matrix Protein fails to directly interact with AP-3delta PubMed
    gag The matrix region of HIV-1 Gag interacts directly with the delta subunit of the AP-3 complex, and this interaction is required for Gag trafficking to multivesicular bodies PubMed
    gag In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Golgi to vacuole transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in anterograde synaptic vesicle transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in anterograde synaptic vesicle transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in antigen processing and presentation, exogenous lipid antigen via MHC class Ib IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endosome to melanosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular protein transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in melanosome organization IC
    Inferred by Curator
    more info
    PubMed 
    involved_in neurotransmitter receptor transport, postsynaptic endosome to lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of NK T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein targeting to vacuole IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of sequestering of zinc ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synaptic vesicle budding from endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in synaptic vesicle membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of AP-3 adaptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in Golgi apparatus TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosomal membrane HDA PubMed 
    located_in membrane HDA PubMed 
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in presynaptic endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in terminal bouton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    AP-3 complex subunit delta-1
    Names
    AP-3 complex delta subunit, partial CDS
    adapter-related protein complex 3 subunit delta-1
    adaptor related protein complex 3 delta 1 subunit
    delta adaptin
    subunit of putative vesicle coat adaptor complex AP-3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052886.2 RefSeqGene

      Range
      17903..68481
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1207

    mRNA and Protein(s)

    1. NM_001261826.3NP_001248755.1  AP-3 complex subunit delta-1 isoform 3

      See identical proteins and their annotated locations for NP_001248755.1

      Status: REVIEWED

      Source sequence(s)
      AB208804, AC005545, BM982261, HY040370
      Consensus CDS
      CCDS58638.1
      UniProtKB/Swiss-Prot
      O14617
      Related
      ENSP00000495274.2, ENST00000643116.3
      Conserved Domains (4) summary
      pfam01602
      Location:32581
      Adaptin_N; Adaptin N terminal region
      pfam06375
      Location:661807
      BLVR; Bovine leukaemia virus receptor (BLVR)
      pfam12717
      Location:155265
      Cnd1; non-SMC mitotic condensation complex subunit 1
      sd00044
      Location:151172
      HEAT; HEAT repeat [structural motif]
    2. NM_001374799.1NP_001361728.1  AP-3 complex subunit delta-1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC005257, AC005328, AC005545
      Conserved Domains (3) summary
      sd00044
      Location:151172
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:32581
      Adaptin_N; Adaptin N terminal region
      pfam06375
      Location:661807
      AP3D1; AP-3 complex subunit delta-1
    3. NM_003938.8NP_003929.4  AP-3 complex subunit delta-1 isoform 2

      See identical proteins and their annotated locations for NP_003929.4

      Status: REVIEWED

      Source sequence(s)
      AC005545, AF002163, BM982261, HY040370
      Consensus CDS
      CCDS42459.1
      UniProtKB/Swiss-Prot
      O14617
      Related
      ENSP00000344055.4, ENST00000345016.9
      Conserved Domains (4) summary
      pfam01602
      Location:32581
      Adaptin_N; Adaptin N terminal region
      pfam06375
      Location:661807
      BLVR; Bovine leukaemia virus receptor (BLVR)
      pfam12717
      Location:155265
      Cnd1; non-SMC mitotic condensation complex subunit 1
      sd00044
      Location:151172
      HEAT; HEAT repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      2100988..2151566 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027422.1XP_016882911.1  AP-3 complex subunit delta-1 isoform X2

      Related
      ENSP00000494972.1, ENST00000644728.1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001077523.1: Suppressed sequence

      Description
      NM_001077523.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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