Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ABTB1 (ankyrin repeat and BTB domain containing 1)

Identity

Alias_namesankyrin repeat and BTB (POZ) domain containing 1
Alias_symbol (synonym)BPOZ
EF1ABP
Btb3
BTBD21
Other aliasBTB3
PP2259
HGNC (Hugo) ABTB1
LocusID (NCBI) 80325
Atlas_Id 550
Location 3q21.3  [Link to chromosome band 3q21]
Location_base_pair Starts at 127672938 and ends at 127680926 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)

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)ABTB1   18275
Cards
Entrez_Gene (NCBI)ABTB1  80325  ankyrin repeat and BTB domain containing 1
AliasesBPOZ; BTB3; BTBD21; EF1ABP; 
PP2259
GeneCards (Weizmann)ABTB1
Ensembl hg19 (Hinxton)ENSG00000114626 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000114626 [Gene_View]  chr3:127672938-127680926 [Contig_View]  ABTB1 [Vega]
ICGC DataPortalENSG00000114626
TCGA cBioPortalABTB1
AceView (NCBI)ABTB1
Genatlas (Paris)ABTB1
WikiGenes80325
SOURCE (Princeton)ABTB1
Genetics Home Reference (NIH)ABTB1
Genomic and cartography
GoldenPath hg38 (UCSC)ABTB1  -     chr3:127672938-127680926 +  3q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABTB1  -     3q21.3   [Description]    (hg19-Feb_2009)
EnsemblABTB1 - 3q21.3 [CytoView hg19]  ABTB1 - 3q21.3 [CytoView hg38]
Mapping of homologs : NCBIABTB1 [Mapview hg19]  ABTB1 [Mapview hg38]
OMIM608308   
Gene and transcription
Genbank (Entrez)AB053324 AB053325 AB053326 AF297986 AF447886
RefSeq transcript (Entrez)NM_032548 NM_172027 NM_172028
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABTB1
Cluster EST : UnigeneHs.107812 [ NCBI ]
CGAP (NCI)Hs.107812
Alternative Splicing GalleryENSG00000114626
Gene ExpressionABTB1 [ NCBI-GEO ]   ABTB1 [ EBI - ARRAY_EXPRESS ]   ABTB1 [ SEEK ]   ABTB1 [ MEM ]
Gene Expression Viewer (FireBrowse)ABTB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80325
GTEX Portal (Tissue expression)ABTB1
Human Protein AtlasENSG00000114626-ABTB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969K4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969K4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969K4
Splice isoforms : SwissVarQ969K4
PhosPhoSitePlusQ969K4
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    BTB (PS50097)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    BTB/POZ_dom    SKP1/BTB/POZ   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    BTB (PF00651)   
Domain families : Pfam (NCBI)pfam12796    pfam00651   
Domain families : Smart (EMBL)ANK (SM00248)  BTB (SM00225)  
Conserved Domain (NCBI)ABTB1
DMDM Disease mutations80325
Blocks (Seattle)ABTB1
SuperfamilyQ969K4
Human Protein Atlas [tissue]ENSG00000114626-ABTB1 [tissue]
Peptide AtlasQ969K4
HPRD10513
IPIIPI00220832   IPI00172592   IPI00172612   IPI00442508   IPI00978188   IPI00386190   IPI00796230   IPI00945369   
Protein Interaction databases
DIP (DOE-UCLA)Q969K4
IntAct (EBI)Q969K4
FunCoupENSG00000114626
BioGRIDABTB1
STRING (EMBL)ABTB1
ZODIACABTB1
Ontologies - Pathways
QuickGOQ969K4
Ontology : AmiGOtranslation elongation factor activity  protein binding  nucleolus  cytoplasm  cytosol  plasma membrane  translational elongation  SCF ubiquitin ligase complex  regulation of proteolysis  ubiquitin protein ligase binding  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  
Ontology : EGO-EBItranslation elongation factor activity  protein binding  nucleolus  cytoplasm  cytosol  plasma membrane  translational elongation  SCF ubiquitin ligase complex  regulation of proteolysis  ubiquitin protein ligase binding  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  
NDEx NetworkABTB1
Atlas of Cancer Signalling NetworkABTB1
Wikipedia pathwaysABTB1
Orthology - Evolution
OrthoDB80325
GeneTree (enSembl)ENSG00000114626
Phylogenetic Trees/Animal Genes : TreeFamABTB1
HOVERGENQ969K4
HOGENOMQ969K4
Homologs : HomoloGeneABTB1
Homology/Alignments : Family Browser (UCSC)ABTB1
Gene fusions - Rearrangements
Tumor Fusion PortalABTB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABTB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABTB1
dbVarABTB1
ClinVarABTB1
1000_GenomesABTB1 
Exome Variant ServerABTB1
ExAC (Exome Aggregation Consortium)ENSG00000114626
GNOMAD BrowserENSG00000114626
Genetic variants : HAPMAP80325
Genomic Variants (DGV)ABTB1 [DGVbeta]
DECIPHERABTB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABTB1 
Mutations
ICGC Data PortalABTB1 
TCGA Data PortalABTB1 
Broad Tumor PortalABTB1
OASIS PortalABTB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABTB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABTB1
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 ABTB1
DgiDB (Drug Gene Interaction Database)ABTB1
DoCM (Curated mutations)ABTB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABTB1 (select a term)
intoGenABTB1
Cancer3DABTB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608308   
Orphanet
DisGeNETABTB1
MedgenABTB1
Genetic Testing Registry ABTB1
NextProtQ969K4 [Medical]
TSGene80325
GENETestsABTB1
Target ValidationABTB1
Huge Navigator ABTB1 [HugePedia]
snp3D : Map Gene to Disease80325
BioCentury BCIQABTB1
ClinGenABTB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80325
Chemical/Pharm GKB GenePA24418
Clinical trialABTB1
Miscellaneous
canSAR (ICR)ABTB1 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABTB1
EVEXABTB1
GoPubMedABTB1
iHOPABTB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:01:45 CET 2017

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