Atlas of Genetics and Cytogenetics in Oncology and Haematology

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AP1B1 (adaptor related protein complex 1 subunit beta 1)

Identity

Alias (NCBI)ADTB1
AP105A
BAM22
CLAPB2
KIDAR
HGNC (Hugo) AP1B1
HGNC Alias symbBAM22
AP105A
HGNC Previous nameADTB1
 CLAPB2
HGNC Previous nameADTB1, CLAPB2
 adaptor related protein complex 1 beta 1 subunit
LocusID (NCBI) 162
Atlas_Id 660
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 29327680 and ends at 29388583 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)
AP1B1 (22q12.2) / CLTCL1 (22q11.21)AP1B1 (22q12.2) / SGSM3 (22q13.1)BOLA2 (16p11.2) / AP1B1 (22q12.2)
AP1B1 22q12.2 / CLTCL1 22q11.21AP1B1 22q12.2 / SGSM3 22q13.1

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(22;22)(q11;q12) AP1B1/CLTCL1
t(22;22)(q12;q13) AP1B1/SGSM3

External links

Nomenclature
HGNC (Hugo)AP1B1   554
Cards
Entrez_Gene (NCBI)AP1B1  162  adaptor related protein complex 1 subunit beta 1
AliasesADTB1; AP105A; BAM22; CLAPB2; 
KIDAR
GeneCards (Weizmann)AP1B1
Ensembl hg19 (Hinxton)ENSG00000100280 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100280 [Gene_View]  ENSG00000100280 [Sequence]  chr22:29327680-29388583 [Contig_View]  AP1B1 [Vega]
ICGC DataPortalENSG00000100280
TCGA cBioPortalAP1B1
AceView (NCBI)AP1B1
Genatlas (Paris)AP1B1
WikiGenes162
SOURCE (Princeton)AP1B1
Genetics Home Reference (NIH)AP1B1
Genomic and cartography
GoldenPath hg38 (UCSC)AP1B1  -     chr22:29327680-29388583 -  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP1B1  -     22q12.2   [Description]    (hg19-Feb_2009)
GoldenPathAP1B1 - 22q12.2 [CytoView hg19]  AP1B1 - 22q12.2 [CytoView hg38]
ImmunoBaseENSG00000100280
genome Data Viewer NCBIAP1B1 [Mapview hg19]  
OMIM242150   600157   
Gene and transcription
Genbank (Entrez)AI084003 AK294406 AK296567 AK299613 AU139022
RefSeq transcript (Entrez)NM_001127 NM_001166019 NM_001378562 NM_001378563 NM_001378564 NM_001378565 NM_001378566 NM_145730
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AP1B1
Alternative Splicing GalleryENSG00000100280
Gene ExpressionAP1B1 [ NCBI-GEO ]   AP1B1 [ EBI - ARRAY_EXPRESS ]   AP1B1 [ SEEK ]   AP1B1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP1B1 [ Firebrowse - Broad ]
GenevisibleExpression of AP1B1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)162
GTEX Portal (Tissue expression)AP1B1
Human Protein AtlasENSG00000100280-AP1B1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ10567   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ10567  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ10567
Splice isoforms : SwissVarQ10567
PhosPhoSitePlusQ10567
Domains : Interpro (EBI)AP_beta    AP_complex_bsu_1_2_4    ARM-like    ARM-type_fold    Armadillo    B-adaptin_app_sub_C    Clathrin/coatomer_adapt-like_N    Clathrin_a/b/g-adaptin_app_Ig    Clathrin_app_Ig-like_sf    Clathrin_b-adaptin_app_Ig-like    Coatomer/calthrin_app_sub_C    TBP_dom_sf   
Domain families : Pfam (Sanger)Adaptin_N (PF01602)    Alpha_adaptinC2 (PF02883)    B2-adapt-app_C (PF09066)   
Domain families : Pfam (NCBI)pfam01602    pfam02883    pfam09066   
Domain families : Smart (EMBL)Alpha_adaptinC2 (SM00809)  ARM (SM00185)  B2-adapt-app_C (SM01020)  
Conserved Domain (NCBI)AP1B1
DMDM Disease mutations162
Blocks (Seattle)AP1B1
PDB (RSDB)4HMY    4P6Z    6CM9    6CRI    6D83    6D84    6DFF   
PDB Europe4HMY    4P6Z    6CM9    6CRI    6D83    6D84    6DFF   
PDB (PDBSum)4HMY    4P6Z    6CM9    6CRI    6D83    6D84    6DFF   
PDB (IMB)4HMY    4P6Z    6CM9    6CRI    6D83    6D84    6DFF   
Structural Biology KnowledgeBase4HMY    4P6Z    6CM9    6CRI    6D83    6D84    6DFF   
SCOP (Structural Classification of Proteins)4HMY    4P6Z    6CM9    6CRI    6D83    6D84    6DFF   
CATH (Classification of proteins structures)4HMY    4P6Z    6CM9    6CRI    6D83    6D84    6DFF   
SuperfamilyQ10567
Human Protein Atlas [tissue]ENSG00000100280-AP1B1 [tissue]
Peptide AtlasQ10567
HPRD02541
IPIIPI00328257   IPI00413947   IPI00940292   IPI00385007   IPI00384489   IPI00946351   IPI00788911   
Protein Interaction databases
DIP (DOE-UCLA)Q10567
IntAct (EBI)Q10567
FunCoupENSG00000100280
BioGRIDAP1B1
STRING (EMBL)AP1B1
ZODIACAP1B1
Ontologies - Pathways
QuickGOQ10567
Ontology : AmiGOGolgi membrane  protein binding  lysosomal membrane  Golgi apparatus  cytosol  cytosol  intracellular protein transport  determination of left/right symmetry  heart development  vesicle-mediated transport  antigen processing and presentation of exogenous peptide antigen via MHC class II  protein kinase binding  clathrin adaptor complex  clathrin binding  cytoplasmic vesicle membrane  clathrin-coated vesicle membrane  trans-Golgi network membrane  intracellular membrane-bounded organelle  regulation of defense response to virus by virus  
Ontology : EGO-EBIGolgi membrane  protein binding  lysosomal membrane  Golgi apparatus  cytosol  cytosol  intracellular protein transport  determination of left/right symmetry  heart development  vesicle-mediated transport  antigen processing and presentation of exogenous peptide antigen via MHC class II  protein kinase binding  clathrin adaptor complex  clathrin binding  cytoplasmic vesicle membrane  clathrin-coated vesicle membrane  trans-Golgi network membrane  intracellular membrane-bounded organelle  regulation of defense response to virus by virus  
Pathways : KEGGLysosome   
NDEx NetworkAP1B1
Atlas of Cancer Signalling NetworkAP1B1
Wikipedia pathwaysAP1B1
Orthology - Evolution
OrthoDB162
GeneTree (enSembl)ENSG00000100280
Phylogenetic Trees/Animal Genes : TreeFamAP1B1
HOGENOMQ10567
Homologs : HomoloGeneAP1B1
Homology/Alignments : Family Browser (UCSC)AP1B1
Gene fusions - Rearrangements
Fusion : MitelmanAP1B1/CLTCL1 [22q12.2/22q11.21]  
Fusion : MitelmanAP1B1/SGSM3 [22q12.2/22q13.1]  
Fusion PortalAP1B1 22q12.2 CLTCL1 22q11.21 PRAD
Fusion PortalAP1B1 22q12.2 SGSM3 22q13.1 GBM
Fusion : QuiverAP1B1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP1B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP1B1
dbVarAP1B1
ClinVarAP1B1
MonarchAP1B1
1000_GenomesAP1B1 
Exome Variant ServerAP1B1
GNOMAD BrowserENSG00000100280
Varsome BrowserAP1B1
Genetic variants : HAPMAP162
Genomic Variants (DGV)AP1B1 [DGVbeta]
DECIPHERAP1B1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAP1B1 
Mutations
ICGC Data PortalAP1B1 
TCGA Data PortalAP1B1 
Broad Tumor PortalAP1B1
OASIS PortalAP1B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAP1B1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAP1B1
Mutations and Diseases : HGMDAP1B1
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
BioMutasearch AP1B1
DgiDB (Drug Gene Interaction Database)AP1B1
DoCM (Curated mutations)AP1B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP1B1 (select a term)
intoGenAP1B1
Cancer3DAP1B1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM242150    600157   
Orphanet
DisGeNETAP1B1
MedgenAP1B1
Genetic Testing Registry AP1B1
NextProtQ10567 [Medical]
TSGene162
GENETestsAP1B1
Target ValidationAP1B1
Huge Navigator AP1B1 [HugePedia]
snp3D : Map Gene to Disease162
BioCentury BCIQAP1B1
ClinGenAP1B1
Clinical trials, drugs, therapy
Protein Interactions : CTD162
Pharm GKB GenePA24844
Clinical trialAP1B1
Miscellaneous
canSAR (ICR)AP1B1 (select the gene name)
HarmonizomeAP1B1
DataMed IndexAP1B1
Probes
Litterature
PubMed108 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP1B1
EVEXAP1B1
GoPubMedAP1B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:01:38 CEST 2020
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