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    BACH1 BTB domain and CNC homolog 1 [ Homo sapiens (human) ]

    Gene ID: 571, updated on 9-Jun-2024

    Summary

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    Official Symbol
    BACH1provided by HGNC
    Official Full Name
    BTB domain and CNC homolog 1provided by HGNC
    Primary source
    HGNC:HGNC:935
    See related
    Ensembl:ENSG00000156273 MIM:602751; AllianceGenome:HGNC:935
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BACH-1; BTBD24
    Summary
    This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]
    Annotation information
    Note: BACH1 (Gene ID: 571) and BRIP1 (Gene ID: 83990) share the BACH1 symbol/alias in common. BACH1 is a widely used alternative name for BRCA1 interacting protein C-terminal helicase 1 (BRIP1), which can be confused with the official symbol for BTB domain and CNC homolog 1 (BACH1). [10 Jul 2018]
    Expression
    Ubiquitous expression in bone marrow (RPKM 19.7), placenta (RPKM 15.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BACH1 in Genome Data Viewer
    Location:
    21q21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (29298922..29361894)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (27664831..27727787)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (30671243..30734215)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 189 Neighboring gene uncharacterized LOC124905007 Neighboring gene uncharacterized LOC105369299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18348 Neighboring gene Sharpr-MPRA regulatory region 12458 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:30714441-30715640 Neighboring gene BACH1 intronic transcript 2 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. BACH1 regulates the proliferation and odontoblastic differentiation of human dental pulp stem cells. Liu C, et al. BMC Oral Health, 2022 Nov 24. PMID 36424585, Free PMC Article
    2. Iron in Cancer Progression: Does BACH1 Promote Metastasis by Altering Iron Homeostasis? Igarashi K, et al. Subcell Biochem, 2022. PMID 36301491
    3. BTB domain and CNC homolog 1 promotes glioma invasion mainly through regulating extracellular matrix and increases ferroptosis sensitivity. Cong Z, et al. Biochim Biophys Acta Mol Basis Dis, 2022 Dec 1. PMID 36181980
    4. BACH1 promotes clear cell renal cell carcinoma progression by upregulating oxidative stress-related tumorigenicity. Takemoto K, et al. Cancer Sci, 2023 Feb. PMID 36178067, Free PMC Article
    5. A Heme-Binding Transcription Factor BACH1 Regulates Lactate Catabolism Suggesting a Combined Therapy for Triple-Negative Breast Cancer. Padilla J, et al. Cells, 2022 Mar 31. PMID 35406740, Free PMC Article

    See all (170) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TANK Binding Kinase 1 Promotes BACH1 Degradation through Both Phosphorylation-Dependent and -Independent Mechanisms without Relying on Heme and FBXO22.
      Title: TANK Binding Kinase 1 Promotes BACH1 Degradation through Both Phosphorylation-Dependent and -Independent Mechanisms without Relying on Heme and FBXO22.
    2. BACH1 regulates the differentiation of vascular smooth muscle cells from human embryonic stem cells via CARM1-mediated methylation of H3R17.
      Title: BACH1 regulates the differentiation of vascular smooth muscle cells from human embryonic stem cells via CARM1-mediated methylation of H3R17.
    3. Knockdown of Bach1 protects periodontal bone regeneration from inflammatory damage.
      Title: Knockdown of Bach1 protects periodontal bone regeneration from inflammatory damage.
    4. Antioxidants stimulate BACH1-dependent tumor angiogenesis.
      Title: Antioxidants stimulate BACH1-dependent tumor angiogenesis.
    5. BACH1 promotes lung adenocarcinoma cell metastasis through transcriptional activation of ITGA2.
      Title: BACH1 promotes lung adenocarcinoma cell metastasis through transcriptional activation of ITGA2.
    6. Ferroptosis model system by the re-expression of BACH1.
      Title: Ferroptosis model system by the re-expression of BACH1.
    7. Chemotherapy-induced exosomal circBACH1 promotes breast cancer resistance and stemness via miR-217/G3BP2 signaling pathway.
      Title: Chemotherapy-induced exosomal circBACH1 promotes breast cancer resistance and stemness via miR-217/G3BP2 signaling pathway.
    8. Evaluation of Bach1 mRNA expression in patients with chronic kidney disease: A preliminary study.
      Title: Evaluation of Bach1 mRNA expression in patients with chronic kidney disease: A preliminary study.
    9. BACH1 deficiency prevents neointima formation and maintains the differentiated phenotype of vascular smooth muscle cells by regulating chromatin accessibility.
      Title: BACH1 deficiency prevents neointima formation and maintains the differentiated phenotype of vascular smooth muscle cells by regulating chromatin accessibility.
    10. Thioredoxin facilitates hepatocellular carcinoma stemness and metastasis by increasing BACH1 stability to activate the AKT/mTOR pathway.
      Title: Thioredoxin facilitates hepatocellular carcinoma stemness and metastasis by increasing BACH1 stability to activate the AKT/mTOR pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (116)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • AP000240.4

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heme binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables ligand-activated transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of RNA polymerase II transcription regulator complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of RNA polymerase II transcription regulator complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytoplasm HDA PubMed 
    colocalizes_with cytosol HDA PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    colocalizes_with nucleus HDA PubMed 
    located_in nucleus HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transcription regulator protein BACH1
    Names
    BTB and CNC homology 1, basic leucine zipper transcription factor 1
    basic region leucine zipper transcriptional regulator BACH1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029658.2 RefSeqGene

      Range
      5024..52250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001186.4 → NP_001177.1  transcription regulator protein BACH1

      See identical proteins and their annotated locations for NP_001177.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF124731, AI336948, BC063307
      Consensus CDS
      CCDS13585.1
      UniProtKB/Swiss-Prot
      O14867, O43285, Q6ICU0
      UniProtKB/TrEMBL
      A8K4Q6
      Related
      ENSP00000286800.3, ENST00000286800.8
      Conserved Domains (2) summary
      cd14719
      Location:551 → 621
      bZIP_BACH; Basic leucine zipper (bZIP) domain of BTB and CNC homolog (BACH) proteins: a DNA-binding and dimerization domain
      pfam00651
      Location:24 → 127
      BTB; BTB/POZ domain

    2. NM_206866.3 → NP_996749.1  transcription regulator protein BACH1

      See identical proteins and their annotated locations for NP_996749.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF026199, AF124731, AI336948, BC063307
      Consensus CDS
      CCDS13585.1
      UniProtKB/Swiss-Prot
      O14867, O43285, Q6ICU0
      UniProtKB/TrEMBL
      A8K4Q6
      Related
      ENSP00000382805.1, ENST00000399921.5
      Conserved Domains (2) summary
      cd14719
      Location:551 → 621
      bZIP_BACH; Basic leucine zipper (bZIP) domain of BTB and CNC homolog (BACH) proteins: a DNA-binding and dimerization domain
      pfam00651
      Location:24 → 127
      BTB; BTB/POZ domain

    RNA

    1. NR_027655.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF317902, BC063307, DA855751

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      29298922..29361894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      27664831..27727787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001011545.1: Suppressed sequence

      Description
      NM_001011545.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14867.2 GenPept UniProtKB/Swiss-Prot:O14867

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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