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AP3D1 (adaptor related protein complex 3 subunit delta 1)

Identity

Alias (NCBI)ADTD
HPS10
hBLVR
HGNC (Hugo) AP3D1
HGNC Alias symbADTD
HGNC Previous nameadaptor related protein complex 3 delta 1 subunit
LocusID (NCBI) 8943
Atlas_Id 664
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 2100988 and ends at 2151566 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  inv(19)(p13p13) ZNRF4::AP3D1


External links

 

Nomenclature
HGNC (Hugo)AP3D1   568
LRG (Locus Reference Genomic)LRG_1207
Cards
Entrez_Gene (NCBI)AP3D1    adaptor related protein complex 3 subunit delta 1
AliasesADTD; HPS10; hBLVR
GeneCards (Weizmann)AP3D1
Ensembl hg19 (Hinxton)ENSG00000065000 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000065000 [Gene_View]  ENSG00000065000 [Sequence]  chr19:2100988-2151566 [Contig_View]  AP3D1 [Vega]
ICGC DataPortalENSG00000065000
TCGA cBioPortalAP3D1
AceView (NCBI)AP3D1
Genatlas (Paris)AP3D1
SOURCE (Princeton)AP3D1
Genetics Home Reference (NIH)AP3D1
Genomic and cartography
GoldenPath hg38 (UCSC)AP3D1  -     chr19:2100988-2151566 -  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP3D1  -     19p13.3   [Description]    (hg19-Feb_2009)
GoldenPathAP3D1 - 19p13.3 [CytoView hg19]  AP3D1 - 19p13.3 [CytoView hg38]
ImmunoBaseENSG00000065000
Genome Data Viewer NCBIAP3D1 [Mapview hg19]  
OMIM607246   617050   
Gene and transcription
Genbank (Entrez)AB208804 AF002163 AF130042 AK094460 AK128692
RefSeq transcript (Entrez)NM_001077523 NM_001261826 NM_001374799 NM_003938
Consensus coding sequences : CCDS (NCBI)AP3D1
Gene ExpressionAP3D1 [ NCBI-GEO ]   AP3D1 [ EBI - ARRAY_EXPRESS ]   AP3D1 [ SEEK ]   AP3D1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP3D1 [ Firebrowse - Broad ]
GenevisibleExpression of AP3D1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8943
GTEX Portal (Tissue expression)AP3D1
Human Protein AtlasENSG00000065000-AP3D1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusO14617
Domains : Interpro (EBI)AP3_complex_dsu    ARM-like    ARM-type_fold    Clathrin/coatomer_adapt-like_N   
Domain families : Pfam (Sanger)Adaptin_N (PF01602)   
Domain families : Pfam (NCBI)pfam01602   
Conserved Domain (NCBI)AP3D1
PDB (RSDB)4AFI   
PDB Europe4AFI   
PDB (PDBSum)4AFI   
PDB (IMB)4AFI   
Structural Biology KnowledgeBase4AFI   
SCOP (Structural Classification of Proteins)4AFI   
CATH (Classification of proteins structures)4AFI   
SuperfamilyO14617
AlphaFold pdb e-kbO14617   
Human Protein Atlas [tissue]ENSG00000065000-AP3D1 [tissue]
HPRD06260
Protein Interaction databases
DIP (DOE-UCLA)O14617
IntAct (EBI)O14617
BioGRIDAP3D1
STRING (EMBL)AP3D1
ZODIACAP3D1
Ontologies - Pathways
QuickGOO14617
Ontology : AmiGOGolgi membrane  protein binding  lysosomal membrane  Golgi apparatus  protein targeting to vacuole  intracellular protein transport  Golgi to vacuole transport  anterograde axonal transport  endosome membrane  endosome membrane  membrane  synaptic vesicle budding from endosome  AP-3 adaptor complex  melanosome organization  endosome to melanosome transport  terminal bouton  positive regulation of transcription by RNA polymerase II  antigen processing and presentation, exogenous lipid antigen via MHC class Ib  anterograde synaptic vesicle transport  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  postsynapse  presynaptic endosome  neurotransmitter receptor transport, postsynaptic endosome to lysosome  glutamatergic synapse  axon cytoplasm  
Ontology : EGO-EBIGolgi membrane  protein binding  lysosomal membrane  Golgi apparatus  protein targeting to vacuole  intracellular protein transport  Golgi to vacuole transport  anterograde axonal transport  endosome membrane  endosome membrane  membrane  synaptic vesicle budding from endosome  AP-3 adaptor complex  melanosome organization  endosome to melanosome transport  terminal bouton  positive regulation of transcription by RNA polymerase II  antigen processing and presentation, exogenous lipid antigen via MHC class Ib  anterograde synaptic vesicle transport  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  postsynapse  presynaptic endosome  neurotransmitter receptor transport, postsynaptic endosome to lysosome  glutamatergic synapse  axon cytoplasm  
Pathways : KEGGKEGG_LYSOSOME   
NDEx NetworkAP3D1
Atlas of Cancer Signalling NetworkAP3D1
Wikipedia pathwaysAP3D1
Orthology - Evolution
OrthoDB8943
GeneTree (enSembl)ENSG00000065000
Phylogenetic Trees/Animal Genes : TreeFamAP3D1
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]  
Fusion : MitelmanTCF3::AP3D1 [19p13.3/19p13.3]  
Fusion : MitelmanZNF317::AP3D1 [19p13.2/19p13.3]  
Fusion : MitelmanZNF69::AP3D1 [19p13.2/19p13.3]  
Fusion : MitelmanZNRF4::AP3D1 [19p13.3/19p13.3]  
Fusion : QuiverAP3D1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP3D1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP3D1
dbVarAP3D1
ClinVarAP3D1
MonarchAP3D1
1000_GenomesAP3D1 
Exome Variant ServerAP3D1
GNOMAD BrowserENSG00000065000
Varsome BrowserAP3D1
ACMGAP3D1 variants
VarityO14617
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]  
Somatic Mutations in Cancer : COSMIC3DAP3D1
Mutations and Diseases : HGMDAP3D1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAP3D1
DgiDB (Drug Gene Interaction Database)AP3D1
DoCM (Curated mutations)AP3D1
CIViC (Clinical Interpretations of Variants in Cancer)AP3D1
Cancer3DAP3D1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607246    617050   
Orphanet305    629   
DisGeNETAP3D1
MedgenAP3D1
Genetic Testing Registry AP3D1
NextProtO14617 [Medical]
GENETestsAP3D1
Target ValidationAP3D1
Huge Navigator AP3D1 [HugePedia]
ClinGenAP3D1
Clinical trials, drugs, therapy
MyCancerGenomeAP3D1
Protein Interactions : CTDAP3D1
Pharm GKB GenePA24859
PharosO14617
Clinical trialAP3D1
Miscellaneous
canSAR (ICR)AP3D1
HarmonizomeAP3D1
ARCHS4AP3D1
DataMed IndexAP3D1
Probes
Litterature
PubMed111 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAP3D1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:22:41 CET 2022

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