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AP3D1 (adaptor related protein complex 3 delta 1 subunit)

Identity

Alias_namesadaptor-related protein complex 3
Alias_symbol (synonym)ADTD
Other aliasHPS10
hBLVR
HGNC (Hugo) AP3D1
LocusID (NCBI) 8943
Atlas_Id 664
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 2100988 and ends at 2151557 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AP3D1 (19p13.3) / COL19A1 (6q13)AP3D1 (19p13.3) / HSP90AA1 (14q32.31)AP3D1 (19p13.3) / KCTD19 (16q22.1)
AP3D1 (19p13.3) / LCP1 (13q14.13)AP3D1 (19p13.3) / MUM1 (19p13.3)AP3D1 (19p13.3) / PTMS (12p13.31)
AP3D1 (19p13.3) / R3HCC1L (10q24.2)AP3D1 (19p13.3) / TOP2B (3p24.2)AP3D1 (19p13.3) / WIPI2 (7p22.1)
CRKL (22q11.21) / AP3D1 (19p13.3)HAAO (2p21) / AP3D1 (19p13.3)MKNK2 (19p13.3) / AP3D1 (19p13.3)
TCF3 (19p13.3) / AP3D1 (19p13.3)ZNF317 (19p13.2) / AP3D1 (19p13.3)ZNF69 (19p13.2) / AP3D1 (19p13.3)
ZNRF4 (19p13.3) / AP3D1 (19p13.3)AP3D1 19p13.3 / KCTD19 16q22.1AP3D1 19p13.3 / MUM1 19p13.3
TCF3 19p13.3 / AP3D1 19p13.3ZNF317 19p13.2 / AP3D1 19p13.3ZNF69 19p13.2 / AP3D1 19p13.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AP3D1   568
Cards
Entrez_Gene (NCBI)AP3D1  8943  adaptor related protein complex 3 delta 1 subunit
AliasesADTD; HPS10; hBLVR
GeneCards (Weizmann)AP3D1
Ensembl hg19 (Hinxton)ENSG00000065000 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000065000 [Gene_View]  chr19:2100988-2151557 [Contig_View]  AP3D1 [Vega]
ICGC DataPortalENSG00000065000
TCGA cBioPortalAP3D1
AceView (NCBI)AP3D1
Genatlas (Paris)AP3D1
WikiGenes8943
SOURCE (Princeton)AP3D1
Genetics Home Reference (NIH)AP3D1
Genomic and cartography
GoldenPath hg38 (UCSC)AP3D1  -     chr19:2100988-2151557 -  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP3D1  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblAP3D1 - 19p13.3 [CytoView hg19]  AP3D1 - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIAP3D1 [Mapview hg19]  AP3D1 [Mapview hg38]
OMIM607246   617050   
Gene and transcription
Genbank (Entrez)AB208804 AF002163 AF130042 AK094460 AK128692
RefSeq transcript (Entrez)NM_001077523 NM_001261826 NM_003938
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AP3D1
Cluster EST : UnigeneHs.512815 [ NCBI ]
CGAP (NCI)Hs.512815
Alternative Splicing GalleryENSG00000065000
Gene ExpressionAP3D1 [ NCBI-GEO ]   AP3D1 [ EBI - ARRAY_EXPRESS ]   AP3D1 [ SEEK ]   AP3D1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP3D1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8943
GTEX Portal (Tissue expression)AP3D1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14617   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14617  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14617
Splice isoforms : SwissVarO14617
PhosPhoSitePlusO14617
Domains : Interpro (EBI)AP3D1    ARM-like    ARM-type_fold    Clathrin/coatomer_adapt-like_N   
Domain families : Pfam (Sanger)Adaptin_N (PF01602)    AP3D1 (PF06375)   
Domain families : Pfam (NCBI)pfam01602    pfam06375   
Domain families : Smart (EMBL)BLVR (SM01354)  
Conserved Domain (NCBI)AP3D1
DMDM Disease mutations8943
Blocks (Seattle)AP3D1
PDB (SRS)4AFI   
PDB (PDBSum)4AFI   
PDB (IMB)4AFI   
PDB (RSDB)4AFI   
Structural Biology KnowledgeBase4AFI   
SCOP (Structural Classification of Proteins)4AFI   
CATH (Classification of proteins structures)4AFI   
SuperfamilyO14617
Human Protein AtlasENSG00000065000
Peptide AtlasO14617
HPRD06260
IPIIPI00411453   IPI00289608   IPI00413686   IPI00411677   IPI00719680   IPI00981882   
Protein Interaction databases
DIP (DOE-UCLA)O14617
IntAct (EBI)O14617
FunCoupENSG00000065000
BioGRIDAP3D1
STRING (EMBL)AP3D1
ZODIACAP3D1
Ontologies - Pathways
QuickGOO14617
Ontology : AmiGOGolgi membrane  transporter activity  lysosomal membrane  Golgi apparatus  eye pigment biosynthetic process  intracellular protein transport  anterograde axonal transport  endosome membrane  membrane  synaptic vesicle budding from endosome  AP-3 adaptor complex  melanosome organization  endosome to melanosome transport  terminal bouton  antigen processing and presentation, exogenous lipid antigen via MHC class Ib  anterograde synaptic vesicle transport  synaptic vesicle membrane organization  positive regulation of NK T cell differentiation  regulation of sequestering of zinc ion  protein localization to membrane  presynaptic endosome  neurotransmitter receptor transport, postsynaptic endosome to lysosome  axon cytoplasm  
Ontology : EGO-EBIGolgi membrane  transporter activity  lysosomal membrane  Golgi apparatus  eye pigment biosynthetic process  intracellular protein transport  anterograde axonal transport  endosome membrane  membrane  synaptic vesicle budding from endosome  AP-3 adaptor complex  melanosome organization  endosome to melanosome transport  terminal bouton  antigen processing and presentation, exogenous lipid antigen via MHC class Ib  anterograde synaptic vesicle transport  synaptic vesicle membrane organization  positive regulation of NK T cell differentiation  regulation of sequestering of zinc ion  protein localization to membrane  presynaptic endosome  neurotransmitter receptor transport, postsynaptic endosome to lysosome  axon cytoplasm  
Pathways : KEGGLysosome   
NDEx NetworkAP3D1
Atlas of Cancer Signalling NetworkAP3D1
Wikipedia pathwaysAP3D1
Orthology - Evolution
OrthoDB8943
GeneTree (enSembl)ENSG00000065000
Phylogenetic Trees/Animal Genes : TreeFamAP3D1
HOVERGENO14617
HOGENOMO14617
Homologs : HomoloGeneAP3D1
Homology/Alignments : Family Browser (UCSC)AP3D1
Gene fusions - Rearrangements
Fusion : MitelmanAP3D1/KCTD19 [19p13.3/16q22.1]  
Fusion : MitelmanAP3D1/MUM1 [19p13.3/19p13.3]  [t(19;19)(p13;p13)]  
Fusion : MitelmanTCF3/AP3D1 [19p13.3/19p13.3]  [t(19;19)(p13;p13)]  
Fusion : MitelmanZNF317/AP3D1 [19p13.2/19p13.3]  [t(19;19)(p13;p13)]  
Fusion : MitelmanZNF69/AP3D1 [19p13.2/19p13.3]  [t(19;19)(p13;p13)]  
Fusion : MitelmanZNRF4/AP3D1 [19p13.3/19p13.3]  [inv(19)(p13p13)]  
Fusion: TCGAAP3D1 19p13.3 KCTD19 16q22.1 PRAD
Fusion: TCGAAP3D1 19p13.3 MUM1 19p13.3 LUAD
Fusion: TCGATCF3 19p13.3 AP3D1 19p13.3 BRCA
Fusion: TCGAZNF317 19p13.2 AP3D1 19p13.3 OV
Fusion: TCGAZNF69 19p13.2 AP3D1 19p13.3 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP3D1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP3D1
dbVarAP3D1
ClinVarAP3D1
1000_GenomesAP3D1 
Exome Variant ServerAP3D1
ExAC (Exome Aggregation Consortium)AP3D1 (select the gene name)
Genetic variants : HAPMAP8943
Genomic Variants (DGV)AP3D1 [DGVbeta]
DECIPHERAP3D1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAP3D1 
Mutations
ICGC Data PortalAP3D1 
TCGA Data PortalAP3D1 
Broad Tumor PortalAP3D1
OASIS PortalAP3D1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAP3D1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAP3D1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AP3D1
DgiDB (Drug Gene Interaction Database)AP3D1
DoCM (Curated mutations)AP3D1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP3D1 (select a term)
intoGenAP3D1
Cancer3DAP3D1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607246    617050   
Orphanet
MedgenAP3D1
Genetic Testing Registry AP3D1
NextProtO14617 [Medical]
TSGene8943
GENETestsAP3D1
Target ValidationAP3D1
Huge Navigator AP3D1 [HugePedia]
snp3D : Map Gene to Disease8943
BioCentury BCIQAP3D1
ClinGenAP3D1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8943
Chemical/Pharm GKB GenePA24859
Clinical trialAP3D1
Miscellaneous
canSAR (ICR)AP3D1 (select the gene name)
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP3D1
EVEXAP3D1
GoPubMedAP3D1
iHOPAP3D1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:55:06 CEST 2017

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