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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AP3D1 Gene

protein-coding   GIFtS: 56
GCID: GC19M002101

adaptor-related protein complex 3, delta 1 subunit
 Explore 7 diseases affiliated with
AP3D1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AP3D1    

Aliases
for AP3D1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Adaptor-Related Protein Complex 3, Delta 1 Subunit1 2     AP-3 Complex Subunit Delta-12
ADTD1 2     Delta Adaptin2
Adapter-Related Protein Complex 3 Subunit Delta-12 3     Delta-Adaptin, Partial CDS2
AP-3 Complex Subunit Delta2 3     HBLVR1
Adaptin, Delta2     Subunit Of Putative Vesicle Coat Adaptor Complex AP-32
AP-3 Complex Delta Subunit, Partial CDS2     Delta-Adaptin1

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


Summaries
for AP3D1 gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011255.14  
Regulatory elements:
   SABiosciences 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 plasmid: AP3D1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AP3D1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for AP3D1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Cytoplasm (By similarity). Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic
side (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14617

    • AP3D1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000347416   ENSP00000344055   ENSP00000466267   ENSP00000468449   ENSP00000349398  
     ENSP00000342321  

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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005622intracellular ----
    GO:0005794Golgi apparatus TAS9151686
    GO:0010008endosome membrane IDA16162817
    GO:0030117membrane coat IEA--


    AP3D1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for AP3D1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AP3D1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR010474 BLV_receptor
     IPR011989 ARM-like
     IPR002553 Clathrin/coatomer_adapt-like_N
     IPR016024 ARM-type_fold
     IPR017105 AP3_complex_dsu

    Graphical View of Domain Structure for InterPro Entry O14617

    ProtoNet protein and cluster: O14617

    1 Blocks protein family: IPB002553 Adaptin

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


    Function
    for AP3D1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    hsa-mir-1 (MIRT001386)

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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
    SwitchGear 3'UTR luciferase reporter plasmid: AP3D1 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS9303295
    GO:0008565protein transporter activity IEA--


    AP3D1 for ontologies           About GeneDecksing


    Animal Models:
         13 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Ap3d1):
     behavior/neurological  cellular  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  integument  mortality/aging  nervous system  pigmentation 
     renal/urinary system  reproductive system  vision/eye 

    AP3D1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for AP3D1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lysosome
    		Lysosome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for AP3D1):
        Lysosome


    AP3D1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AP3D1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/62 Interacting proteins for AP3D1 (O146173 ENSP000003440554) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VAMP7P518093, ENSP000002864484I2D: score=6 STRING: ENSP00000286448
    AP3S2P597803, ENSP000003387774I2D: score=4 STRING: ENSP00000338777
    SLC30A3Q997263, ENSP000002335354I2D: score=2 STRING: ENSP00000233535
    AP3S1Q925723, ENSP000003253694I2D: score=11 STRING: ENSP00000325369
    ARF1P840773, ENSP000002721024I2D: score=1 STRING: ENSP00000272102
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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:0016192vesicle-mediated transport ----
    GO:0019882antigen processing and presentation ----


    AP3D1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for AP3D1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AP3D1
    Search CenterWatch for drugs/clinical trials and news about AP3D1 

    Transcripts
    for AP3D1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

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    8/28 QIAGEN miScript miRNA 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
    SwitchGear 3'UTR luciferase reporter plasmid: AP3D1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AP3D1 (see all 7)
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    Clone
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    Additional cDNA sequence: 

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

    24/38 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 

    24/562 AceView cDNA sequences (see all 562):

    CB152362 BC005142 AI492534 BQ434818 BM450238 BM797639 BU848640 AK128692 
    BQ639573 BF988118 BM972088 BQ229707 BM461766 BU540518 BQ676667 BI963062 
    BQ706416 AL832474 NM_130807 BQ422934 AW008178 AW073982 BM784355 BU859029 

    GeneLoc Exon Structure

    5/13 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

    Expression
    for AP3D1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AP3D1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTTTGTGTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AP3D1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See AP3D1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP3D1

    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
    for AP3D1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AP3D1 gene from 9/32 species (see all 32)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves AP3D11 adaptor-related protein complex 3, delta 1 subunit 79.51(n)
    89.58(a)    		   420079  XM_003642854.1  XP_003642902.1 
    lizard
    (Anolis carolinensis)    		 Reptilia AP3D16
    		 --
    		 73(a)
    		 1 ↔ 1
    		 AAWZ02037270(592-17333)
    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 g1 , 3 eye pigment biosynthesis3
    garnet1    		 49(a)3
    61(n)1
    62.38(a)1    		   448191  NM_080046.31  NP_524785.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea apd-31 Protein APD-3 53.56(n)
    50.04(a)    		   173701  NM_062169.3  NP_494570.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes APL51 Apl5p 41.07(n)
    31.24(a)    		   855906   NP_015129.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons delta-ADR1 AP-3 complex subunit delta 45.49(n)
    35.6(a)    		   841298  NM_179454.1  NP_849785.1 
    rice
    (Oryza sativa)    		 Liliopsida --
    		 AP-3 complex subunit delta, putative, expressed
    		 22(a)
    		 1 ↔ 1
    		 1(18050471-18053893)


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

    Paralogs
    for AP3D1 gene

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

    Genomic Variants
    for AP3D1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1217 NCBI SNPs in AP3D1 are shown (see all 1217)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs591929111,2
    		--1901029(+) CCCGCA/CGCTCC 1 -- int10--------
    rs343521981,2
    		C,--1903763(+) CCTCCA/GGGCGG 1 -- int12Minor allele frequency- G:0.25NA 4
    rs1498125431,2
    		--2100750(+) TGCCCC/TGGGGG 2 -- int10--------
    rs1458111751,2
    		--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--------

    HapMap Linkage Disequilibrium report for AP3D1 (2100988 - 2164464 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for AP3D1
         1 CNV: 5067
         1 Indel: 73280

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    Disorders / Diseases
    for AP3D1 gene

    (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.)
    About This Section
    AP3D1 for disorders           About GeneDecksing

    OMIM gene information: 607246    OMIM disorders: --

    7 diseases for AP3D1:    About MalaCards
    anogenital venereal wart    hermansky-pudlak syndrome    prostate cancer    prostatitis
    schizophrenia    immunodeficiency    malaria

    Human Genome Epidemiology (HuGE) Navigator: AP3D1 (4 documents)

    Export disorders for AP3D1 gene to outside databases

    Publications
    for AP3D1 gene

    (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)
    About This Section

    PubMed articles for AP3D1 gene, integrated from 9 sources (see all 56):
    (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. (1997)
    2. Characterization of the adaptor-related protein complex, AP-3. (PubMed id 9151686)1, 2, 3 Simpson F.... Robinson M.S. (1997)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. 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. (2004)
    5. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    6. 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. (2002)
    7. Beta3A-adaptin, a subunit of the adaptor-like complex AP-3. (PubMed id 9182526)1, 9 Dell'Angelica E.C.... Bonifacino J.S. (1997)
    8. AP-3 regulates PAR1 ubiquitin-independent MVB/lysosoma l sorting via an ALIX-mediated pathway. (PubMed id 22833563)1 Dores M.R....Trejo J. (2012)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. The HIV-1 matrix protein does not interact directly wi th the protein interactive domain of AP-3d. (PubMed id 22705971)1 Kyere S.K....Summers M.F. (2012)

    External Searches for AP3D1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
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    Genome Databases showing AP3D1 gene

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

    Other Databases showing AP3D1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AP3D1 gene

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

    Intellectual Property
    for AP3D1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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