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

Gene ID: 8943, updated on 26-Aug-2014
Official Symbol
AP3D1provided by HGNC
Official Full Name
adaptor-related protein complex 3, delta 1 subunitprovided by HGNC
Primary source
HGNC:568
Locus tag
PRO0039
See related
Ensembl:ENSG00000065000; HPRD:06260; MIM:607246; Vega:OTTHUMG00000180354
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADTD; 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
See AP3D1 in Epigenomics, MapViewer
Location:
19p13.3
Exon count:
32
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (2100988..2151620, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2100987..2151556, 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 H3K79 methyltransferase Neighboring gene pleckstrin homology domain containing, family J member 1 Neighboring gene microRNA 1227

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 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
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
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 Protein Interaction Database

  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein transporter activity IEA
Inferred from Electronic Annotation
more info
 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
anterograde axon cargo transport ISS
Inferred from Sequence or Structural Similarity
more info
 
anterograde synaptic vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
antigen processing and presentation, exogenous lipid antigen via MHC class Ib IEA
Inferred from Electronic Annotation
more info
 
endosome to melanosome transport IMP
Inferred from Mutant Phenotype
more info
 
eye pigment biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
melanosome organization IC
Inferred by Curator
more info
 
positive regulation of NK T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
protein localization to membrane IMP
Inferred from Mutant Phenotype
more info
 
protein localization to organelle IEA
Inferred from Electronic Annotation
more info
 
regulation of sequestering of zinc ion IMP
Inferred from Mutant Phenotype
more info
PubMed 
synaptic vesicle membrane organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus TAS
Traceable Author Statement
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane coat IEA
Inferred from Electronic Annotation
more info
 
terminal bouton IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
AP-3 complex subunit delta-1
Names
AP-3 complex subunit delta-1
delta adaptin
adaptin, delta
AP-3 complex subunit delta
delta-adaptin, partial CDS
AP-3 complex delta subunit, partial CDS
adapter-related protein complex 3 subunit delta-1
adaptor-related protein complex 3 subunit delta-1
subunit of putative vesicle coat adaptor complex AP-3

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.

mRNA and Protein(s)

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

    See proteins identical to NP_001248755.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains two alternate in-frame exons in the coding region, compared to isoform 2. The encoded isoform (3) is longer than isoform 2.
    Source sequence(s)
    AB208804, AC005257, AC005545, BM982261
    Consensus CDS
    CCDS58638.1
    UniProtKB/Swiss-Prot
    O14617
    Related
    ENSP00000347416, OTTHUMP00000264064, ENST00000355272, OTTHUMT00000450910
    Conserved Domains (2) summary
    pfam01602
    Location:33581
    Blast Score: 1290
    Adaptin_N; Adaptin N terminal region
    pfam06375
    Location:660807
    Blast Score: 483
    BLVR; Bovine leukaemia virus receptor (BLVR)
  2. NM_003938.6NP_003929.4  AP-3 complex subunit delta-1 isoform 2

    See proteins identical to NP_003929.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) encodes isoform 2.
    Source sequence(s)
    AC005257, AC005545, AF002163, BM982261
    Consensus CDS
    CCDS42459.1
    UniProtKB/Swiss-Prot
    O14617
    Related
    ENSP00000344055, OTTHUMP00000264065, ENST00000345016, OTTHUMT00000450912
    Conserved Domains (2) summary
    pfam01602
    Location:33581
    Blast Score: 1282
    Adaptin_N; Adaptin N terminal region
    pfam06375
    Location:660807
    Blast Score: 485
    BLVR; Bovine leukaemia virus receptor (BLVR)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    2100988..2151620
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722932.1XP_006722995.1  

    Conserved Domains (2) summary
    pfam01602
    Location:33581
    Blast Score: 1289
    Adaptin_N; Adaptin N terminal region
    pfam06375
    Location:660807
    Blast Score: 483
    BLVR; Bovine leukaemia virus receptor (BLVR)

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    1873271..1922400
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    2100857..2151100
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.