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

Gene ID: 571, updated on 12-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (29298922..29361894)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (27664831..27727787)
RS_2024_09 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 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 promotes the progression of esophageal squamous cell carcinoma by inducing the epithelial-mesenchymal transition and angiogenesis. Zhao Y, et al. Cancer Med, 2021 May. PMID 33932125, Free PMC Article
  2. 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
  3. 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
  4. Bach1 Induces Endothelial Cell Apoptosis and Cell-Cycle Arrest through ROS Generation. Wang X, et al. Oxid Med Cell Longev, 2016. PMID 27057283, 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 (188) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Her2 amplification, Rel-A, and Bach1 can influence APOBEC3A expression in breast cancer cells.
    Title: Her2 amplification, Rel-A, and Bach1 can influence APOBEC3A expression in breast cancer cells.
  2. Loss of BACH1 improves osteogenic differentiation in glucocorticoid-induced hBMSCs through restoring autophagy.
    Title: Loss of BACH1 improves osteogenic differentiation in glucocorticoid-induced hBMSCs through restoring autophagy.
  3. Role of BACH1 in multiple myeloma.
    Title: Role of BACH1 in multiple myeloma.
  4. 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.
  5. 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.
  6. Knockdown of Bach1 protects periodontal bone regeneration from inflammatory damage.
    Title: Knockdown of Bach1 protects periodontal bone regeneration from inflammatory damage.
  7. Antioxidants stimulate BACH1-dependent tumor angiogenesis.
    Title: Antioxidants stimulate BACH1-dependent tumor angiogenesis.
  8. BACH1 promotes lung adenocarcinoma cell metastasis through transcriptional activation of ITGA2.
    Title: BACH1 promotes lung adenocarcinoma cell metastasis through transcriptional activation of ITGA2.
  9. Ferroptosis model system by the re-expression of BACH1.
    Title: Ferroptosis model system by the re-expression of BACH1.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (119)

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)

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 
located_in 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_2024_08

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

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