Atlas of Genetics and Cytogenetics in Oncology and Haematology


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AP3B1 (adaptor related protein complex 3 beta 1 subunit)

Identity

Alias_namesadaptor-related protein complex 3, beta 1 subunit
Alias_symbol (synonym)ADTB3A
HPS2
Other aliasADTB3
HPS
PE
HGNC (Hugo) AP3B1
LocusID (NCBI) 8546
Atlas_Id 60402
Location 5q14.1  [Link to chromosome band 5q14]
Location_base_pair Starts at 78002326 and ends at 78294755 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)
AP3B1 (5q14.1) / AP3B1 (5q14.1)AP3B1 (5q14.1) / BRAF (7q34)AP3B1 (5q14.1) / DCTN4 (5q33.1)
BRAF (7q34) / AP3B1 (5q14.1)EPB41L4B (9q31.3) / AP3B1 (5q14.1)

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)AP3B1   566
LRG (Locus Reference Genomic)LRG_170
Cards
Entrez_Gene (NCBI)AP3B1  8546  adaptor related protein complex 3 beta 1 subunit
AliasesADTB3; ADTB3A; HPS; HPS2; 
PE
GeneCards (Weizmann)AP3B1
Ensembl hg19 (Hinxton)ENSG00000132842 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132842 [Gene_View]  chr5:78002326-78294755 [Contig_View]  AP3B1 [Vega]
ICGC DataPortalENSG00000132842
TCGA cBioPortalAP3B1
AceView (NCBI)AP3B1
Genatlas (Paris)AP3B1
WikiGenes8546
SOURCE (Princeton)AP3B1
Genetics Home Reference (NIH)AP3B1
Genomic and cartography
GoldenPath hg38 (UCSC)AP3B1  -     chr5:78002326-78294755 -  5q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP3B1  -     5q14.1   [Description]    (hg19-Feb_2009)
EnsemblAP3B1 - 5q14.1 [CytoView hg19]  AP3B1 - 5q14.1 [CytoView hg38]
Mapping of homologs : NCBIAP3B1 [Mapview hg19]  AP3B1 [Mapview hg38]
OMIM603401   608233   
Gene and transcription
Genbank (Entrez)AK225908 AK291201 AK303300 AL708147 AY623424
RefSeq transcript (Entrez)NM_001271769 NM_003664
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AP3B1
Cluster EST : UnigeneHs.532091 [ NCBI ]
CGAP (NCI)Hs.532091
Alternative Splicing GalleryENSG00000132842
Gene ExpressionAP3B1 [ NCBI-GEO ]   AP3B1 [ EBI - ARRAY_EXPRESS ]   AP3B1 [ SEEK ]   AP3B1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP3B1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8546
GTEX Portal (Tissue expression)AP3B1
Human Protein AtlasENSG00000132842-AP3B1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00203   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00203  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00203
Splice isoforms : SwissVarO00203
PhosPhoSitePlusO00203
Domains : Interpro (EBI)AP3_beta    AP3B1_Ser    AP3B_C    AP_beta    ARM-like    ARM-type_fold    B-adaptin_app_sub_C    Clathrin/coatomer_adapt-like_N   
Domain families : Pfam (Sanger)Adaptin_N (PF01602)    AP3B1_C (PF14796)    SEEEED (PF14797)   
Domain families : Pfam (NCBI)pfam01602    pfam14796    pfam14797   
Domain families : Smart (EMBL)AP3B1_C (SM01355)  B2-adapt-app_C (SM01020)  
Conserved Domain (NCBI)AP3B1
DMDM Disease mutations8546
Blocks (Seattle)AP3B1
SuperfamilyO00203
Human Protein Atlas [tissue]ENSG00000132842-AP3B1 [tissue]
Peptide AtlasO00203
HPRD04551
IPIIPI00021129   IPI01011395   IPI00397887   IPI00982231   IPI00981630   
Protein Interaction databases
DIP (DOE-UCLA)O00203
IntAct (EBI)O00203
FunCoupENSG00000132842
BioGRIDAP3B1
STRING (EMBL)AP3B1
ZODIACAP3B1
Ontologies - Pathways
QuickGOO00203
Ontology : AmiGOlysosomal membrane  Golgi apparatus  protein targeting to lysosome  intracellular protein transport  blood coagulation  anterograde axonal transport  membrane  protein phosphatase binding  AP-3 adaptor complex  clathrin adaptor complex  clathrin-coated vesicle membrane  GTP-dependent protein binding  melanosome organization  antigen processing and presentation, exogenous lipid antigen via MHC class Ib  anterograde synaptic vesicle transport  positive regulation of NK T cell differentiation  axon cytoplasm  
Ontology : EGO-EBIlysosomal membrane  Golgi apparatus  protein targeting to lysosome  intracellular protein transport  blood coagulation  anterograde axonal transport  membrane  protein phosphatase binding  AP-3 adaptor complex  clathrin adaptor complex  clathrin-coated vesicle membrane  GTP-dependent protein binding  melanosome organization  antigen processing and presentation, exogenous lipid antigen via MHC class Ib  anterograde synaptic vesicle transport  positive regulation of NK T cell differentiation  axon cytoplasm  
Pathways : KEGGLysosome   
NDEx NetworkAP3B1
Atlas of Cancer Signalling NetworkAP3B1
Wikipedia pathwaysAP3B1
Orthology - Evolution
OrthoDB8546
GeneTree (enSembl)ENSG00000132842
Phylogenetic Trees/Animal Genes : TreeFamAP3B1
HOVERGENO00203
HOGENOMO00203
Homologs : HomoloGeneAP3B1
Homology/Alignments : Family Browser (UCSC)AP3B1
Gene fusions - Rearrangements
Fusion: Tumor Portal AP3B1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP3B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP3B1
dbVarAP3B1
ClinVarAP3B1
1000_GenomesAP3B1 
Exome Variant ServerAP3B1
ExAC (Exome Aggregation Consortium)ENSG00000132842
GNOMAD BrowserENSG00000132842
Genetic variants : HAPMAP8546
Genomic Variants (DGV)AP3B1 [DGVbeta]
DECIPHERAP3B1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAP3B1 
Mutations
ICGC Data PortalAP3B1 
TCGA Data PortalAP3B1 
Broad Tumor PortalAP3B1
OASIS PortalAP3B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAP3B1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAP3B1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch AP3B1
DgiDB (Drug Gene Interaction Database)AP3B1
DoCM (Curated mutations) (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP3B1 (select a term)
intoGenAP3B1
Cancer3DAP3B1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603401    608233   
Orphanet18309   
MedgenAP3B1
Genetic Testing Registry AP3B1
NextProtO00203 [Medical]
TSGene8546
GENETestsAP3B1
Target ValidationAP3B1
Huge Navigator AP3B1 [HugePedia]
snp3D : Map Gene to Disease8546
BioCentury BCIQAP3B1
ClinGenAP3B1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8546
Chemical/Pharm GKB GenePA24857
Clinical trialAP3B1
Miscellaneous
canSAR (ICR)AP3B1 (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP3B1
EVEXAP3B1
GoPubMedAP3B1
iHOPAP3B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:37:58 CET 2017

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