Atlas of Genetics and Cytogenetics in Oncology and Haematology


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AP3B1 (adaptor related protein complex 3 subunit beta 1)

Identity

Alias (NCBI)ADTB3
ADTB3A
HPS
HPS2
PE
HGNC (Hugo) AP3B1
HGNC Alias symbADTB3A
HPS2
HGNC Previous nameadaptor-related protein complex 3, beta 1 subunit
LocusID (NCBI) 8546
Atlas_Id 60402
Location 5q14.1  [Link to chromosome band 5q14]
Location_base_pair Starts at 78002326 and ends at 78294698 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    adaptor related protein complex 3 subunit beta 1
AliasesADTB3; ADTB3A; HPS; HPS2; 
PE
GeneCards (Weizmann)AP3B1
Ensembl hg19 (Hinxton)ENSG00000132842 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132842 [Gene_View]  ENSG00000132842 [Sequence]  chr5:78002326-78294698 [Contig_View]  AP3B1 [Vega]
ICGC DataPortalENSG00000132842
TCGA cBioPortalAP3B1
AceView (NCBI)AP3B1
Genatlas (Paris)AP3B1
SOURCE (Princeton)AP3B1
Genetics Home Reference (NIH)AP3B1
Genomic and cartography
GoldenPath hg38 (UCSC)AP3B1  -     chr5:78002326-78294698 -  5q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP3B1  -     5q14.1   [Description]    (hg19-Feb_2009)
GoldenPathAP3B1 - 5q14.1 [CytoView hg19]  AP3B1 - 5q14.1 [CytoView hg38]
ImmunoBaseENSG00000132842
Genome Data Viewer NCBIAP3B1 [Mapview hg19]  
OMIM603401   608233   
Gene and transcription
Genbank (Entrez)AK225908 AK291201 AK303300 AL708147 AY623424
RefSeq transcript (Entrez)NM_001271769 NM_003664
Consensus coding sequences : CCDS (NCBI)AP3B1
Gene ExpressionAP3B1 [ NCBI-GEO ]   AP3B1 [ EBI - ARRAY_EXPRESS ]   AP3B1 [ SEEK ]   AP3B1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP3B1 [ Firebrowse - Broad ]
GenevisibleExpression of AP3B1 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
PhosPhoSitePlusO00203
Domains : Interpro (EBI)AP3_beta    AP3B1_Ser    AP3B_C    AP_beta    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
SuperfamilyO00203
AlphaFold pdb e-kbO00203   
Human Protein Atlas [tissue]ENSG00000132842-AP3B1 [tissue]
HPRD04551
Protein Interaction databases
DIP (DOE-UCLA)O00203
IntAct (EBI)O00203
BioGRIDAP3B1
STRING (EMBL)AP3B1
ZODIACAP3B1
Ontologies - Pathways
QuickGOO00203
Ontology : AmiGOcell morphogenesis  toll-like receptor signaling pathway  hematopoietic progenitor cell differentiation  respiratory system process  protein binding  mitochondrion  lysosomal membrane  Golgi apparatus  cellular protein modification process  protein targeting to lysosome  cellular zinc ion homeostasis  intracellular protein transport  inflammatory response  lysosome organization  spermatogenesis  single fertilization  blood coagulation  anterograde axonal transport  membrane  synaptic vesicle budding from endosome  vesicle-mediated transport  protein phosphatase binding  AP-3 adaptor complex  clathrin adaptor complex  clathrin-coated vesicle membrane  GTP-dependent protein binding  granulocyte differentiation  melanosome organization  protein localization to cell surface  mRNA transcription by RNA polymerase II  synapse  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  homeostasis of number of cells  regulation of catalytic activity  positive regulation of NK T cell differentiation  platelet dense granule organization  lung morphogenesis  establishment of protein localization to mitochondrial membrane involved in mitochondrial fission  skin epidermis development  axon cytoplasm  
Ontology : EGO-EBIcell morphogenesis  toll-like receptor signaling pathway  hematopoietic progenitor cell differentiation  respiratory system process  protein binding  mitochondrion  lysosomal membrane  Golgi apparatus  cellular protein modification process  protein targeting to lysosome  cellular zinc ion homeostasis  intracellular protein transport  inflammatory response  lysosome organization  spermatogenesis  single fertilization  blood coagulation  anterograde axonal transport  membrane  synaptic vesicle budding from endosome  vesicle-mediated transport  protein phosphatase binding  AP-3 adaptor complex  clathrin adaptor complex  clathrin-coated vesicle membrane  GTP-dependent protein binding  granulocyte differentiation  melanosome organization  protein localization to cell surface  mRNA transcription by RNA polymerase II  synapse  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  homeostasis of number of cells  regulation of catalytic activity  positive regulation of NK T cell differentiation  platelet dense granule organization  lung morphogenesis  establishment of protein localization to mitochondrial membrane involved in mitochondrial fission  skin epidermis development  axon cytoplasm  
NDEx NetworkAP3B1
Atlas of Cancer Signalling NetworkAP3B1
Wikipedia pathwaysAP3B1
Orthology - Evolution
OrthoDB8546
GeneTree (enSembl)ENSG00000132842
Phylogenetic Trees/Animal Genes : TreeFamAP3B1
Homologs : HomoloGeneAP3B1
Homology/Alignments : Family Browser (UCSC)AP3B1
Gene fusions - Rearrangements
Fusion : QuiverAP3B1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP3B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP3B1
dbVarAP3B1
ClinVarAP3B1
MonarchAP3B1
1000_GenomesAP3B1 
Exome Variant ServerAP3B1
GNOMAD BrowserENSG00000132842
Varsome BrowserAP3B1
ACMGAP3B1 variants
VarityO00203
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]  
Somatic Mutations in Cancer : COSMIC3DAP3B1
Mutations and Diseases : HGMDAP3B1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAP3B1
DgiDB (Drug Gene Interaction Database)AP3B1
DoCM (Curated mutations)AP3B1
CIViC (Clinical Interpretations of Variants in Cancer)AP3B1
Cancer3DAP3B1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603401    608233   
Orphanet18309   
DisGeNETAP3B1
MedgenAP3B1
Genetic Testing Registry AP3B1
NextProtO00203 [Medical]
GENETestsAP3B1
Target ValidationAP3B1
Huge Navigator AP3B1 [HugePedia]
ClinGenAP3B1
Clinical trials, drugs, therapy
MyCancerGenomeAP3B1
Protein Interactions : CTDAP3B1
Pharm GKB GenePA24857
PharosO00203
Clinical trialAP3B1
Miscellaneous
canSAR (ICR)AP3B1
HarmonizomeAP3B1
DataMed IndexAP3B1
Probes
Litterature
PubMed99 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAP3B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:42:17 CEST 2021

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