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BACH1 (BTB and CNC homology 1, basic leucine zipper transcription factor 1)

Identity

Alias_namesBTB and CNC homology 1
Alias_symbol (synonym)BACH-1
BTBD24
Other alias
HGNC (Hugo) BACH1
LocusID (NCBI) 571
Atlas_Id 49965
Location 21q21.3  [Link to chromosome band 21q21]
Location_base_pair Starts at 30671116 and ends at 30718469 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BACH1 (21q21.3) / DSCR3 (21q22.13)BACH1 (21q21.3) / GSPT1 (16p13.13)BACH1 (21q21.3) / MAP3K7CL (21q21.3)
BACH1 (21q21.3) / TENM1 (Xq25)DSCR3 (21q22.13) / BACH1 (21q21.3)ZFYVE21 (14q32.33) / BACH1 (21q21.3)
BACH1 21q21.3 C21orf7BACH1 21q21.3 / DSCR3 21q22.13BACH1 21q21.3 ODZ1
DSCR3 21q22.13 / BACH1 21q21.3

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 Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Fanconi anemia


External links

Nomenclature
HGNC (Hugo)BACH1   935
Cards
Entrez_Gene (NCBI)BACH1  571  BTB and CNC homology 1, basic leucine zipper transcription factor 1
AliasesBACH-1; BTBD24
GeneCards (Weizmann)BACH1
Ensembl hg19 (Hinxton)ENSG00000156273 [Gene_View]  chr21:30671116-30718469 [Contig_View]  BACH1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000156273 [Gene_View]  chr21:30671116-30718469 [Contig_View]  BACH1 [Vega]
ICGC DataPortalENSG00000156273
TCGA cBioPortalBACH1
AceView (NCBI)BACH1
Genatlas (Paris)BACH1
WikiGenes571
SOURCE (Princeton)BACH1
Genetics Home Reference (NIH)BACH1
Genomic and cartography
GoldenPath hg19 (UCSC)BACH1  -     chr21:30671116-30718469 +  21q21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BACH1  -     21q21.3   [Description]    (hg38-Dec_2013)
EnsemblBACH1 - 21q21.3 [CytoView hg19]  BACH1 - 21q21.3 [CytoView hg38]
Mapping of homologs : NCBIBACH1 [Mapview hg19]  BACH1 [Mapview hg38]
OMIM602751   
Gene and transcription
Genbank (Entrez)AA402241 AB002803 AF026199 AF026200 AF317902
RefSeq transcript (Entrez)NM_001011545 NM_001186 NM_206866
RefSeq genomic (Entrez)NC_000021 NC_018932 NG_029658 NT_011512 NW_004929426
Consensus coding sequences : CCDS (NCBI)BACH1
Cluster EST : UnigeneHs.154276 [ NCBI ]
CGAP (NCI)Hs.154276
Alternative Splicing GalleryENSG00000156273
Gene ExpressionBACH1 [ NCBI-GEO ]   BACH1 [ EBI - ARRAY_EXPRESS ]   BACH1 [ SEEK ]   BACH1 [ MEM ]
Gene Expression Viewer (FireBrowse)BACH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)571
GTEX Portal (Tissue expression)BACH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14867   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14867  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14867
Splice isoforms : SwissVarO14867
PhosPhoSitePlusO14867
Domaine pattern : Prosite (Expaxy)BTB (PS50097)    BZIP (PS50217)    BZIP_BASIC (PS00036)   
Domains : Interpro (EBI)BTB/POZ_dom    bZIP    bZIP_Maf    SKP1/BTB/POZ    TF_DNA-bd   
Domain families : Pfam (Sanger)BTB (PF00651)    bZIP_Maf (PF03131)   
Domain families : Pfam (NCBI)pfam00651    pfam03131   
Domain families : Smart (EMBL)BRLZ (SM00338)  BTB (SM00225)  
Conserved Domain (NCBI)BACH1
DMDM Disease mutations571
Blocks (Seattle)BACH1
PDB (SRS)2IHC   
PDB (PDBSum)2IHC   
PDB (IMB)2IHC   
PDB (RSDB)2IHC   
Structural Biology KnowledgeBase2IHC   
SCOP (Structural Classification of Proteins)2IHC   
CATH (Classification of proteins structures)2IHC   
SuperfamilyO14867
Human Protein AtlasENSG00000156273
Peptide AtlasO14867
HPRD04127
IPIIPI00024235   IPI01014676   IPI01020926   IPI01021095   IPI01021387   IPI00795966   IPI00552038   IPI00798422   IPI00789086   
Protein Interaction databases
DIP (DOE-UCLA)O14867
IntAct (EBI)O14867
FunCoupENSG00000156273
BioGRIDBACH1
STRING (EMBL)BACH1
ZODIACBACH1
Ontologies - Pathways
QuickGOO14867
Ontology : AmiGOregulation of transcription involved in G1/S transition of mitotic cell cycle  regulation of transcription involved in G2/M transition of mitotic cell cycle  negative regulation of transcription from RNA polymerase II promoter  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding  transcription factor activity, sequence-specific DNA binding  ubiquitin-protein transferase activity  protein binding  nucleus  nucleus  cytoplasm  cytosol  DNA repair  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  protein ubiquitination  heme binding  Cul3-RING ubiquitin ligase complex  positive regulation of transcription from RNA polymerase II promoter  regulation of transcription from RNA polymerase II promoter in response to hypoxia  
Ontology : EGO-EBIregulation of transcription involved in G1/S transition of mitotic cell cycle  regulation of transcription involved in G2/M transition of mitotic cell cycle  negative regulation of transcription from RNA polymerase II promoter  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding  transcription factor activity, sequence-specific DNA binding  ubiquitin-protein transferase activity  protein binding  nucleus  nucleus  cytoplasm  cytosol  DNA repair  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  protein ubiquitination  heme binding  Cul3-RING ubiquitin ligase complex  positive regulation of transcription from RNA polymerase II promoter  regulation of transcription from RNA polymerase II promoter in response to hypoxia  
NDEx NetworkBACH1
Atlas of Cancer Signalling NetworkBACH1
Wikipedia pathwaysBACH1
Orthology - Evolution
OrthoDB571
GeneTree (enSembl)ENSG00000156273
Phylogenetic Trees/Animal Genes : TreeFamBACH1
HOVERGENO14867
HOGENOMO14867
Homologs : HomoloGeneBACH1
Homology/Alignments : Family Browser (UCSC)BACH1
Gene fusions - Rearrangements
Fusion : MitelmanBACH1/DSCR3 [21q21.3/21q22.13]  
Fusion : MitelmanBACH1/MAP3K7CL [21q21.3/21q21.3]  [t(21;21)(q21;q21)]  
Fusion : MitelmanBACH1/TENM1 [21q21.3/Xq25]  [t(X;21)(q25;q21)]  
Fusion : MitelmanDSCR3/BACH1 [21q22.13/21q21.3]  [t(21;21)(q21;q22)]  
Fusion: TCGABACH1 21q21.3 C21orf7 BLCA
Fusion: TCGABACH1 21q21.3 DSCR3 21q22.13 HNSC
Fusion: TCGABACH1 21q21.3 ODZ1 KIRC
Fusion: TCGADSCR3 21q22.13 BACH1 21q21.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBACH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BACH1
dbVarBACH1
ClinVarBACH1
1000_GenomesBACH1 
Exome Variant ServerBACH1
ExAC (Exome Aggregation Consortium)BACH1 (select the gene name)
Genetic variants : HAPMAP571
Genomic Variants (DGV)BACH1 [DGVbeta]
DECIPHER (Syndromes)21:30671116-30718469  ENSG00000156273
CONAN: Copy Number AnalysisBACH1 
Mutations
ICGC Data PortalBACH1 
TCGA Data PortalBACH1 
Broad Tumor PortalBACH1
OASIS PortalBACH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBACH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBACH1
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 BACH1
DgiDB (Drug Gene Interaction Database)BACH1
DoCM (Curated mutations)BACH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BACH1 (select a term)
intoGenBACH1
Cancer3DBACH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602751   
Orphanet
MedgenBACH1
Genetic Testing Registry BACH1
NextProtO14867 [Medical]
TSGene571
GENETestsBACH1
Huge Navigator BACH1 [HugePedia]
snp3D : Map Gene to Disease571
BioCentury BCIQBACH1
ClinGenBACH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD571
Chemical/Pharm GKB GenePA25234
Clinical trialBACH1
Miscellaneous
canSAR (ICR)BACH1 (select the gene name)
Probes
Litterature
PubMed83 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBACH1
EVEXBACH1
GoPubMedBACH1
iHOPBACH1
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 : Thu Mar 30 14:53:41 CEST 2017

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