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BACH1 (BTB domain and CNC homolog 1)

Identity

Alias (NCBI)BACH-1
BTBD24
HGNC (Hugo) BACH1
HGNC Alias symbBACH-1
BTBD24
HGNC Previous nameBTB and CNC homology 1, basic leucine zipper transcription factor 1
LocusID (NCBI) 571
Atlas_Id 49965
Location 21q21.3  [Link to chromosome band 21q21]
Location_base_pair Starts at 29299375 and ends at 29346148 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)
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    BTB domain and CNC homolog 1
AliasesBACH-1; BTBD24
GeneCards (Weizmann)BACH1
Ensembl hg19 (Hinxton)ENSG00000156273 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000156273 [Gene_View]  ENSG00000156273 [Sequence]  chr21:29299375-29346148 [Contig_View]  BACH1 [Vega]
ICGC DataPortalENSG00000156273
TCGA cBioPortalBACH1
AceView (NCBI)BACH1
Genatlas (Paris)BACH1
SOURCE (Princeton)BACH1
Genetics Home Reference (NIH)BACH1
Genomic and cartography
GoldenPath hg38 (UCSC)BACH1  -     chr21:29299375-29346148 +  21q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BACH1  -     21q21.3   [Description]    (hg19-Feb_2009)
GoldenPathBACH1 - 21q21.3 [CytoView hg19]  BACH1 - 21q21.3 [CytoView hg38]
ImmunoBaseENSG00000156273
Genome Data Viewer NCBIBACH1 [Mapview hg19]  
OMIM602751   
Gene and transcription
Genbank (Entrez)AA402241 AB002803 AF026199 AF026200 AF317902
RefSeq transcript (Entrez)NM_001011545 NM_001186 NM_206866
Consensus coding sequences : CCDS (NCBI)BACH1
Gene ExpressionBACH1 [ NCBI-GEO ]   BACH1 [ EBI - ARRAY_EXPRESS ]   BACH1 [ SEEK ]   BACH1 [ MEM ]
Gene Expression Viewer (FireBrowse)BACH1 [ Firebrowse - Broad ]
GenevisibleExpression of BACH1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)571
GTEX Portal (Tissue expression)BACH1
Human Protein AtlasENSG00000156273-BACH1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusO14867
Domaine pattern : Prosite (Expaxy)BTB (PS50097)    BZIP (PS50217)    BZIP_BASIC (PS00036)   
Domains : Interpro (EBI)BTB/POZ_dom    bZIP    bZIP_BACH    bZIP_Maf    SKP1/BTB/POZ_sf    TF_DNA-bd_sf   
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
PDB (RSDB)2IHC   
PDB Europe2IHC   
PDB (PDBSum)2IHC   
PDB (IMB)2IHC   
Structural Biology KnowledgeBase2IHC   
SCOP (Structural Classification of Proteins)2IHC   
CATH (Classification of proteins structures)2IHC   
SuperfamilyO14867
AlphaFold pdb e-kbO14867   
Human Protein Atlas [tissue]ENSG00000156273-BACH1 [tissue]
HPRD04127
Protein Interaction databases
DIP (DOE-UCLA)O14867
IntAct (EBI)O14867
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 by RNA polymerase II  negative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleus  nucleoplasm  cytoplasm  cytosol  cytosol  DNA repair  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  heme binding  positive regulation of transcription by RNA polymerase II  regulation of transcription from RNA polymerase II promoter in response to hypoxia  RNA polymerase II transcription regulator complex  
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 by RNA polymerase II  negative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleus  nucleoplasm  cytoplasm  cytosol  cytosol  DNA repair  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  heme binding  positive regulation of transcription by RNA polymerase II  regulation of transcription from RNA polymerase II promoter in response to hypoxia  RNA polymerase II transcription regulator complex  
NDEx NetworkBACH1
Atlas of Cancer Signalling NetworkBACH1
Wikipedia pathwaysBACH1
Orthology - Evolution
OrthoDB571
GeneTree (enSembl)ENSG00000156273
Phylogenetic Trees/Animal Genes : TreeFamBACH1
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]  
Fusion : MitelmanBACH1::TENM1 [21q21.3/Xq25]  
Fusion : MitelmanDSCR3::BACH1 [21q22.13/21q21.3]  
Fusion : QuiverBACH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBACH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BACH1
dbVarBACH1
ClinVarBACH1
MonarchBACH1
1000_GenomesBACH1 
Exome Variant ServerBACH1
GNOMAD BrowserENSG00000156273
Varsome BrowserBACH1
ACMGBACH1 variants
VarityO14867
Genomic Variants (DGV)BACH1 [DGVbeta]
DECIPHERBACH1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DBACH1
Mutations and Diseases : HGMDBACH1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaBACH1
DgiDB (Drug Gene Interaction Database)BACH1
DoCM (Curated mutations)BACH1
CIViC (Clinical Interpretations of Variants in Cancer)BACH1
Cancer3DBACH1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602751   
Orphanet
DisGeNETBACH1
MedgenBACH1
Genetic Testing Registry BACH1
NextProtO14867 [Medical]
GENETestsBACH1
Target ValidationBACH1
Huge Navigator BACH1 [HugePedia]
ClinGenBACH1
Clinical trials, drugs, therapy
MyCancerGenomeBACH1
Protein Interactions : CTDBACH1
Pharm GKB GenePA25234
PharosO14867
Clinical trialBACH1
Miscellaneous
canSAR (ICR)BACH1
HarmonizomeBACH1
ARCHS4BACH1
DataMed IndexBACH1
Probes
Litterature
PubMed136 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBACH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jan 20 12:24:07 CET 2022

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