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FLASH GENE
Symbol BACH1 contributors: mct - updated : 03-10-2016
HGNC name BTB and CNC homology 1, basic leucine zipper transcription factor 1
HGNC id 935
Location 21q21.3      Physical location : 30.671.219 - 30.734.217
Synonym name
  • basic leucine zipper transcription factor 1
  • transcription regulator protein BACH1
  • BTB and CNC homology 1
  • transcription regulator protein9
  • Synonym symbol(s) BAC1, HA2303, BACH-1, BTBD24
    DNA
    TYPE anonymous DNA segment
    STRUCTURE 63.10 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D21S190 - D21S298 - D21S260 - D21S226 - D21S1442 - BACH1 - D21S213 - D21S262 - D21S404 - qter
    Text see GRIK1
    Physical map
    C21orf100 21q22.1 chromosome 21 open reading frame 100 C21orf127 21q21.3 chromosome 21 open reading frame 127 HSPDP7 21q22.11 heat shock 60kDa protein 1 (chaperonin) pseudogene 7 LOC391276 21 similar to hypothetical protein ZNF294 21q22-q22.1 zinc finger protein 294 RPL23P2 21q22.11 ribosomal protein L23 pseudogene 2 C21orf6 21q22.1 chromosome 21 open reading frame 6 USP16 21q21 ubiquitin specific protease 16 CCT8 21q22.1 chaperonin containing TCP1, subunit 8 (theta) C21orf7 21q22.11 chromosome 21 open reading frame 7 LOC391277 21 similar to uracil DNA glycosylase BACH1 21q22.1 BTB and CNC homology 1, basic leucine zipper transcription factor 1 GRIK1 21q22.1 glutamate receptor, ionotropic, kainate 1 C21orf41 21q22.11 chromosome 21 open reading frame 41 CLDN17 21q22.1 claudin 17 CLDN8 21q22.1 claudin 8 LOC391278 21 LOC391278 LOC388818 21 similar to RIKEN cDNA 2310002B14 KRTAP23-1 21q22.1 keratin associated protein 23-1 KRTAP13P2 21q22.1 keratin associated protein 13 pseudogene 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 5770 32 736 - 1998 9479503
    also called variant 1
    - - 2743 - 623 . ubiquitous, highly in testis . nuclear 2001 11069897
  • also called BACH1-T
  • lacking the C terminal leucine zipper domain
  • 5 - 5642 82 736 - 2001 11069897
    also called variant 2
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel     Homo sapiens
    Endocrineadrenal gland   highly
    Reproductivemale systemtestis  highly
    Respiratoryrespiratory tracttrachea  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal BTB (broad complex-tamtrack-bric-a-brac) domain, that is thought to contribute to DNA binding through oligomerization with neighboring BACH1 heterodimers to stabilize their interactions with DNA
  • POZ (pox virus and zinc finger) protein interaction domain
  • a C terminal basic leucine zipper (bZIP) of the cap'n'collar type, and is also excluded from mitotic chromatin by a C-terminal cytoplasmic localization sequence dependent and leptomycin B sensitive process
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Bac-1 transcription factor
    Homologene
    FAMILY
  • DEAH helicase family
  • bZIP family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • predominantly localized to the nucleus of control cells
  • despite its role in transcription, is predominantly exported to the cytoplasm in a XPO1-dependent manner
  • basic FUNCTION
  • activator in cultured erythroid cells
  • transcription repressor in fibroblasts
  • hematopoietic transcription factor implicated in megakaryocytes differentiation
  • having a specific and selective ability to repress expression of hepatic HMOX1
  • heme-regulated repressor of alpha-globin genes, playing a role in redox induction of HMOX1 and NQO1, though the exact mechanism of this repression is not clear
  • confers an additional level of regulation to ARE-dependent genes that reveals a new dimension to the oxidative stress response
  • may serve to not only facilitate DNA repair, but also maintain BRCA1 in DNA damage foci
  • may function as a rheostat regulating levels of intracellular free heme
  • acts as a relatively specific transcription factor, as judged by the small number of target regions compared with other bZIP transcription factors for which up to several thousands of peaks have been observed
  • plays a specific role in sensing and regulating HMOX-dependent heme turnover and maintains intracellular heme homeostasis by functioning as a fulcrum that balances intracellular heme levels with cellular redox status through the expression of HMOX1
  • repressor of the oxidative stress response
  • inhibits oxidative stress-inducible genes, and is a crucial negative regulator of oxidative stress–induced cellular senescence
  • connects oxygen metabolism and cellular senescence as a negative regulator of TP53
  • TOPBP1 and BACH1 are required for ATR-dependent phosphorylation events in response to replication stress
  • plays a critical role in regulating HMOX1 gene expression in acute myeloid leukemia cells and its expression suppresses their
  • survival by downregulating HMOX1 expression
  • in response to oxidative stress, regulates the oxidation state through the negative control of heme oxygenase-1 expression prior to terminal keratinocyte differentiation
  • its function may affect not only the pathogenesis of skin diseases but also the process of skin aging
  • heme-binding transcription factor repressing the transcription from a subset of MAF recognition elements at low intracellular heme levels
  • is a repressor of the oxidative stress response, and a negative regulator of ROS-induced cellular senescence directed by TP53
  • is the master regulator of breast cancer bone metastasis
  • heme may regulate BACH1 as an extracellular signaling molecule
  • BACH2 functions with BACH1 and EBF1 to promote B cell development by repressing myeloid genes in common lymphoid progenitor (CLP) (
  • regulates genes involved in the oxidative stress response and cell-cycle progression
  • suppresses cell proliferation and induces cell-cycle arrest and apoptosis by increasing mitochondrial ROS production
  • acts as transcription regulator and is recognized as a recently hypoxia regulator and functions as an inducible repressor for the HO-1 gene in many human cell types in response to stress oxidative
  • BACH1 and BACH2 work in a complementary manner to maintain the normal function of the alveolar macrophages (AMs) and surfactant homeostasis in the lung
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimer with MAFK
  • forms a heterodimer with the small Maf oncoproteins and binds to the Maf-recognition element (MARE) to inhibit target genes, including HMOX1
  • bound to the ARE enhancer motifs preventing NFE2L2 from binding and thereby repressing transcription
  • complex with TP53 on a subset of its target genes to restrain the transcriptional activity of TP53 by recruiting histone deacetylase 1 (HDAC1), thus inhibiting the process of cellular senescence
  • novel role of BACH1 in the regulation of mitotic chromosome dynamics
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding NF-E2 binding sites with MAFK coordinating transcription activation and repression by MAFK
  • binding directly to BRCT repeats of BRCA1 and contributing to its activity
  • interacting with NFE2L2, bound to the ARE enhancer motifs preventing NFE2L2 from binding and thereby
  • binds HMOX1 antioxidant response elements and represses transcription
  • repressing transcription (dynamic roles of BACH1 and NFE2L2 in the transcription of the heme oxygenase-1 (HMOX1) gene)
  • interacts directly with the BRCA1 C-terminal BRCT repeats, which are important for BRCA1 DNA repair
  • increased expression of the BACH1 target sequestosome 1 (SQSTM1), a multifunctional ubiquitin-binding protein that serves as a storage place for ubiquitinated protein
  • specific interaction between TOPBP1 and BACH1/FANCJ, a DNA helicase involved in the repair of DNA crosslinks
  • key player in the physiological regulation of oxidative stress, where it acts as a repressor of its main target, HMOX1
  • PSAP and MAPT are direct BACH1 target genes, both of which have been identified as potential biomarkers for the detection of Alzheimer disease
  • the CDKN2A-BACH1 interaction constitutes a regulatory pathway of TP53 in parallel with the CDKN2A-MDM2 pathway
  • critical role of BACH1 in cell transformation and tumor growth induced by activated HRAS
  • TGFB1 induced expression of transcription factors MAFK and BACH1
  • suppresses angiogenesis after ischemic injury and impairs Wnt/CTNNB1 signaling by disrupting the interaction between CTNNB1 and TCF4
  • transcriptional repressor of Heme oxygenase-1 (HO-1), which is cytoprotective through its antioxidant effects
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in acute megakaryoblastic leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneousvascular 
    promising treatment target for the treatment of vascular diseases
    cancerhemopathy 
    functional upregulation of BACH1 is a potential strategy for antileukemic therapy
    immunologyautoimmunearticular
    inactivation of BACH11 is a novel target and signaling pathway in OA prevention
    ANIMAL & CELL MODELS