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AP3D1 Gene

protein-coding   GIFtS: 59
GCID: GC19M002101

Adaptor-Related Protein Complex 3, Delta 1 Subunit

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Adaptor-Related Protein Complex 3, Delta 1 Subunit1 2     AP-3 Complex Subunit Delta-12
Adapter-Related Protein Complex 3 Subunit Delta-12 3     Delta Adaptin2
AP-3 Complex Subunit Delta2 3     Delta-Adaptin, Partial CDS2
ADTD2     hBLVR2
Adaptin, Delta2     Subunit Of Putative Vesicle Coat Adaptor Complex AP-32
AP-3 Complex Delta Subunit, Partial CDS2     Delta-adaptin3

External Ids:    HGNC: 5681   Entrez Gene: 89432   Ensembl: ENSG000000650007   OMIM: 6072465   UniProtKB: O146173   

Export aliases for AP3D1 gene to outside databases

Previous GC identifers: GC19M002163 GC19M002040 GC19M002051 GC19M001873


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AP3D1 Gene:
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)

GeneCards Summary for AP3D1 Gene:
AP3D1 (adaptor-related protein complex 3, delta 1 subunit) is a protein-coding gene. GO annotations related to this gene include protein transporter activity and transporter activity.

UniProtKB/Swiss-Prot: AP3D1_HUMAN, O14617
Function: Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is
associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles
from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1
complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and
nerve terminals

Gene Wiki entry for AP3D1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP3D1 gene promoter:
         Sp1   GCNF   NRSF form 1   MIF-1   NRSF form 2   GATA-2   FOXI1   GCNF-1   Pax-4a   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP3D1 promoter sequence
   Search Chromatin IP Primers for AP3D1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP3D1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

AP3D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP3D1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M002101:  view genomic region     (about GC identifiers)

Start:
2,100,988 bp from pter      End:
2,164,464 bp from pter
Size:
63,477 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AP3D1_HUMAN, O14617 (See protein sequence)
Recommended Name: AP-3 complex subunit delta-1  
Size: 1153 amino acids; 130158 Da
Subunit: AP-3 associates with the BLOC-1 complex (By similarity). Adaptor protein complex 3 (AP-3) is a
heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a
medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2)
Sequence caution: Sequence=AAG35473.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Presence of an
unrelated sequence found on chromosome 7; Sequence=AAH10065.1; Type=Miscellaneous discrepancy; Note=Lack of 8
exons and truncation of 2 other exons in the C- terminus. Alternative splicing seems doubtful, since exon-intron
junctions are not the consensus ones; Sequence=BAD92041.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for AP3D1:
4AFI (3D)    
Secondary accessions: O00202 O75262 Q59HF5 Q96G11 Q9H3C6
Alternative splicing: 5 isoforms:  O14617-1   O14617-2   O14617-3   O14617-4   O14617-5   (Contains a phosphoserine at position 931)

Explore the universe of human proteins at neXtProt for AP3D1: NX_O14617

Explore proteomics data for AP3D1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys16, Lys176
  • Modification sites at PhosphoSitePlus

  • See AP3D1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001248755.1  NP_003929.4  

    ENSEMBL proteins: 
     ENSP00000347416   ENSP00000344055   ENSP00000466267   ENSP00000468449   ENSP00000349398  
     ENSP00000342321  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR011989 ARM-like
     IPR002553 Clathrin/coatomer_adapt-like_N
     IPR017105 AP3_complex_dsu
     IPR010474 BLV_receptor
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry O14617

    ProtoNet protein and cluster: O14617

    1 Blocks protein domain: IPB002553 Adaptin

    UniProtKB/Swiss-Prot: AP3D1_HUMAN, O14617
    Similarity: Belongs to the adaptor complexes large subunit family
    Similarity: Contains 11 HEAT repeats


    Find genes that share domains with AP3D1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AP3D1_HUMAN, O14617
    Function: Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is
    associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles
    from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1
    complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and
    nerve terminals

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS9303295
    GO:0005488binding ----
    GO:0008565protein transporter activity IEA--
         
    Find genes that share ontologies with AP3D1           About GenesLikeMe


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ap3d1):
     behavior/neurological  cellular  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  integument  mortality/aging  nervous system  pigmentation 
     renal/urinary system  reproductive system  vision/eye 

    Find genes that share phenotypes with AP3D1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for AP3D1

    miRNA
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    miRTarBase miRNAs that target AP3D1:
    hsa-mir-92a-3p (MIRT049814), hsa-mir-1 (MIRT001386), hsa-mir-16-5p (MIRT031574), hsa-mir-744-5p (MIRT037730), hsa-mir-615-3p (MIRT040050), hsa-mir-335-5p (MIRT017505), hsa-mir-484 (MIRT042149), hsa-mir-18a-3p (MIRT040843), hsa-mir-425-5p (MIRT016660), hsa-mir-20a-5p (MIRT050521)

    Block miRNA regulation of human, mouse, rat AP3D1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AP3D1 (see all 28):
    hsa-miR-3689b hsa-miR-3607-3p hsa-miR-4328 hsa-miR-106a hsa-miR-503 hsa-miR-487a hsa-miR-485-3p hsa-miR-93
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AP3D1_HUMAN, O14617: Cytoplasm (By similarity). Golgi apparatus membrane; Peripheral membrane protein;
    Cytoplasmic side (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    golgi apparatus5
    cytosol2
    nucleus2
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005794Golgi apparatus TAS9151686
    GO:0010008endosome membrane IDA16162817
    GO:0030117membrane coat IEA--

    Find genes that share ontologies with AP3D1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AP3D1 About    
    See pathways by source

    SuperPathContained pathways About
    1Lysosome
    Lysosome


    Find genes that share SuperPaths with AP3D1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for AP3D1):
        Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP3D1
    Interactions:

        GeneGlobe Interaction Network for AP3D1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AP3D1 (O146173 ENSP000003440554) via UniProtKB, MINT, STRING, and/or I2D (see all 143)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206286Q8N1B43I2D: score=1 
    ENSG00000224455Q8N1B43I2D: score=1 
    ENSG00000225590Q8N1B43I2D: score=1 
    ENSG00000228425Q8N1B43I2D: score=1 
    ENSG00000236014Q8N1B43I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006726eye pigment biosynthetic process TAS9303295
    GO:0006886intracellular protein transport IEA--
    GO:0008089anterograde axon cargo transport ISS--
    GO:0015031protein transport ----
    GO:0016192vesicle-mediated transport ----

    Find genes that share ontologies with AP3D1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AP3D1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AP3D1 gene (3 alternative transcripts): 
    NM_001077523.1  NM_001261826.1  NM_003938.6  

    Unigene Cluster for AP3D1:

    Adaptor-related protein complex 3, delta 1 subunit
    Hs.512815  [show with all ESTs]
    Unigene Representative Sequence: NM_001261826
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000589223 ENST00000355272(uc002lva.3) ENST00000585652 ENST00000345016(uc002luz.3)
    ENST00000591650 ENST00000589369 ENST00000586370 ENST00000592488 ENST00000591631
    ENST00000586177 ENST00000590683 ENST00000591284 ENST00000356926(uc010dsv.3 uc002luy.3)
    ENST00000350812
    miRNA
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    hsa-miR-3689b hsa-miR-3607-3p hsa-miR-4328 hsa-miR-106a hsa-miR-503 hsa-miR-487a hsa-miR-485-3p hsa-miR-93
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    Additional mRNA sequence: 

    AB208804.1 AF130042.1 AK310099.1 AK315899.1 AY954498.1 BC005142.2 BC010065.2 BC022837.1 
    U91930.1 

    Selected DOTS entries (see all 38):

    DT.99965457  DT.99993929  DT.100819558  DT.100799419  DT.100819563  DT.100819566  DT.95281267  DT.100819567 
    DT.121414410  DT.92464041  DT.91912098  DT.121414656  DT.99957637  DT.100819557  DT.95317243  DT.102841013 
    DT.452869  DT.121414850  DT.92412685  DT.100819556  DT.121414723  DT.91718517  DT.455867  DT.86851092 

    Selected AceView cDNA sequences (see all 562):

    BC005142 AK094460 BQ668563 F01584 AA312481 BG912715 BU176978 BQ877429 
    BM784355 AW510336 CA391622 AA836947 BU859587 BM789913 CB152362 CA394293 
    BM707720 BE257718 BM988015 BQ029006 BU552485 BM018330 BM972088 AW408812 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AP3D1 (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^
    SP1:                                                                                                        -                                                   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 22a · 22b · 22c ^ 23a · 23b · 23c · 23d · 23e · 23f ^ 24a · 24b ^ 25a · 25b · 25c · 25d ^ 26 ^ 27a · 27b ^ 28a · 28b · 28c ^ 29a · 29b ^ 30a · 30b · 30c ·
    SP1:                                                                                                                                                            
    SP2:                    -     -                             -                                                                                                   
    SP3:  -                 -     -                             -                                                                                                   
    SP4:                    -     -                             -                                                                       -                           
    SP5:                                                        -                                                                       -                           


    ECgene alternative splicing isoforms for AP3D1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    AP3D1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTTGTGTC
    AP3D1 Expression
    About this image


    AP3D1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Crest (Gastrulation Derivatives)
             Cranial Neural Crest Cells Branchial Arch 1
     
     Head Mesenchyme (Muscoskeletal System)
             Cranial Neural Crest Cells Branchial Arch 1
    AP3D1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP3D1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.512815

    UniProtKB/Swiss-Prot: AP3D1_HUMAN, O14617
    Tissue specificity: Present in all adult tissues examined with the highest levels in skeletal muscle, heart,
    pancreas and testis

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for AP3D1 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap3d11 , 5 adaptor-related protein complex 3, delta 1 subunit1, 5 83.82(n)1
    87.85(a)1
      10 (39.72 cM)5
    117761  NM_007460.11  NP_031486.11 
     807069785 
    chicken
    (Gallus gallus)
    Aves AP3D11 adaptor-related protein complex 3, delta 1 subunit 77.7(n)
    86.18(a)
      420079  XM_004948765.1  XP_004948822.1 
    lizard
    (Anolis carolinensis)
    Reptilia AP3D16
    adaptor-related protein complex 3, delta 1 subunit...
    86(a)
    1 ↔ 1
    AAWZ02037270(105-17549)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA974228.12   -- 71.56(n)    CA974228.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570767742   -- 77.35(n)    57076774 
    fruit fly
    (Drosophila melanogaster)
    Insecta g3 eye pigment biosynthesis 49(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea apd-36
    Protein APD-3, isoform a
    46(a)
    1 ↔ 1
    II(3532526-3546431) WBGene00000162
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APL51 APL5 44.46(n)
    36.5(a)
      855906   NP_015129.1 


    ENSEMBL Gene Tree for AP3D1 (if available)
    TreeFam Gene Tree for AP3D1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AP3D1 (see all 1643)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1117804171,2
    C--2100522(+) TGGGCA/C/GGGGGC 2 -- int11NA 2
    rs1498125431,2
    --2100750(+) TGCCCC/TGGGGG 2 -- int10--------
    rs1458111751,2
    C--2100770(+) AAGGGA/GAGGGA 2 -- int10--------
    rs791045141,2
    F--2100898(+) GGGACC/TGAGGC 2 -- int11Minor allele frequency- T:0.02WA 118
    rs104155561,2
    C,F--2100911(+) CCTCCC/GAAGGG 2 -- int11Minor allele frequency- G:0.12WA 118
    rs1139826051,2
    C--2100993(+) GGAAAA/C/TGCCTG 4 -- ut311CSA 1
    rs1131521581,2
    C--2100994(+) GAAATC/G/TCCTGT 4 -- ut311CSA 1
    rs1489913831,2
    --2101070(+) ATACGG/TGAATG 2 -- ut310--------
    rs1437009491,2
    --2101091(+) ATAAAC/TTCTTA 2 -- ut310--------
    rs1384163151,2
    C--2101170(+) AGTGAC/GAGTTT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for AP3D1 (2100988 - 2164464 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AP3D1 (see all 29):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1514310CNV Deletion17803354
    esv1666079CNV Deletion17803354
    esv2659904CNV Deletion23128226
    esv2717876CNV Deletion23290073
    esv2717875CNV Deletion23290073
    esv2674634CNV Deletion23128226
    esv2674090CNV Deletion23128226
    esv2717877CNV Deletion23290073
    esv2717878CNV Deletion23290073
    esv996177CNV Deletion20482838

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607246    OMIM disorders: --


    Find genes that share disorders with AP3D1           About GenesLikeMe

    Genetic Association Database (GAD): AP3D1
    Human Genome Epidemiology (HuGE) Navigator: AP3D1 (4 documents)

    Export disorders for AP3D1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AP3D1 gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with AP3D1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet. (PubMed id 9303295)1, 2, 3, 9 Ooi C.E....Bonifacino J.S. (EMBO J. 1997)
    2. Characterization of the adaptor-related protein complex, AP-3. (PubMed id 9151686)1, 2, 3 Simpson F.... Robinson M.S. (J. Cell Biol. 1997)
    3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Association analysis between schizophrenia and the AP-3 complex genes. (PubMed id 19481122)1, 4 Hashimoto R....Kunugi H. (Neurosci. Res. 2009)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    10. Site-specific cross-linking reveals a differential direct interaction of class 1, 2, and 3 ADP-ribosylation factors with adaptor protein complexes 1 and 3. (PubMed id 11926829)1, 9 Austin C....Tooze S.A. (Biochemistry 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8943 HGNC: 568 AceView: AP3D1andMOBKL2A Ensembl:ENSG00000065000 euGenes: HUgn8943
    ECgene: AP3D1 Kegg: 8943 H-InvDB: AP3D1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AP3D1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AP3D1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AP3D1 gene:
    Search GeneIP for patents involving AP3D1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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