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- an... See more...

Aliases for BACH1 Gene

Aliases for BACH1 Gene

  • BTB Domain And CNC Homolog 1 2 3 5
  • BTB And CNC Homology 1, Basic Leucine Zipper Transcription Factor 1 2 3
  • Transcription Regulator Protein BACH1 3 4
  • Basic Region Leucine Zipper Transcriptional Regulator BACH1 3
  • BTB And CNC Homolog 1 4
  • BACH-1 3
  • BTBD24 3
  • HA2303 4

External Ids for BACH1 Gene

Previous GeneCards Identifiers for BACH1 Gene

  • GC21P027248
  • GC21P029591
  • GC21P029593
  • GC21P030671
  • GC21P016079
  • GC21P030567
  • GC21P030570

Summaries for BACH1 Gene

Entrez Gene Summary for BACH1 Gene

  • 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]

GeneCards Summary for BACH1 Gene

BACH1 (BTB Domain And CNC Homolog 1) is a Protein Coding gene. Among its related pathways are BRCA1 Pathway and Integrated Cancer Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and heme binding. An important paralog of this gene is BACH2.

UniProtKB/Swiss-Prot Summary for BACH1 Gene

  • Transcriptional regulator that acts as repressor or activator, depending on the context. Binds to NF-E2 DNA binding sites. Play important roles in coordinating transcription activation and repression by MAFK (By similarity). Together with MAF, represses the transcription of genes under the control of the NFE2L2 oxidative stress pathway (PubMed:24035498).

Gene Wiki entry for BACH1 Gene

Additional gene information for BACH1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BACH1 Gene

Genomics for BACH1 Gene

GeneHancer (GH) Regulatory Elements for BACH1 Gene

Promoters and enhancers for BACH1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BACH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BACH1 gene promoter:
  • AML1a

Genomic Locations for BACH1 Gene

Genomic Locations for BACH1 Gene
chr21:29,194,071-29,630,751
(GRCh38/hg38)
Size:
436,681 bases
Orientation:
Plus strand
chr21:30,566,392-31,003,071
(GRCh37/hg19)
Size:
436,680 bases
Orientation:
Plus strand

Genomic View for BACH1 Gene

Genes around BACH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BACH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BACH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BACH1 Gene

Proteins for BACH1 Gene

  • Protein details for BACH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14867-BACH1_HUMAN
    Recommended name:
    Transcription regulator protein BACH1
    Protein Accession:
    O14867
    Secondary Accessions:
    • O43285
    • Q6ICU0

    Protein attributes for BACH1 Gene

    Size:
    736 amino acids
    Molecular mass:
    81958 Da
    Quaternary structure:
    • Heterodimer of BACH1 and MAFK.

    Three dimensional structures from OCA and Proteopedia for BACH1 Gene

neXtProt entry for BACH1 Gene

Post-translational modifications for BACH1 Gene

  • Ubiquitinated by the SCF(FBXL17) complex, leading to its degradation by the proteasome.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for BACH1

No data available for DME Specific Peptides for BACH1 Gene

Domains & Families for BACH1 Gene

Gene Families for BACH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for BACH1 Gene

GenScript: Design optimal peptide antigens:
  • HA2303 (BACH1_HUMAN)
  • cDNA, FLJ94404, Homo sapiens BTB and CNC homology 1, basic leucine zippertranscription factor 1 (BACH1), mRNA (Q6ICU0_HUMAN)
  • Transcription factor BACH1t (Q9BXM4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14867

UniProtKB/Swiss-Prot:

BACH1_HUMAN :
  • Belongs to the bZIP family. CNC subfamily.
Family:
  • Belongs to the bZIP family. CNC subfamily.
genes like me logo Genes that share domains with BACH1: view

Function for BACH1 Gene

Molecular function for BACH1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator that acts as repressor or activator, depending on the context. Binds to NF-E2 DNA binding sites. Play important roles in coordinating transcription activation and repression by MAFK (By similarity). Together with MAF, represses the transcription of genes under the control of the NFE2L2 oxidative stress pathway (PubMed:24035498).
GENATLAS Biochemistry:
murine Bac-1 transcription factor homolog,ubiquitously expressed,interacting with MAFK,transcription repressor in fibroblasts,activator in cultured erythroid cells

Phenotypes From GWAS Catalog for BACH1 Gene

Gene Ontology (GO) - Molecular Function for BACH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IMP 21555518
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with BACH1: view
genes like me logo Genes that share phenotypes with BACH1: view

Animal Models for BACH1 Gene

MGI Knock Outs for BACH1:
  • Bach1 Bach1<tm1Igar>
  • Bach1 Bach1<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for BACH1 Gene

miRTarBase miRNAs that target BACH1

Transcription Factor Targets for BACH1 Gene

Selected GeneGlobe predicted Target genes for BACH1
Targeted motifs for BACH1 Gene
HOMER Transcription Factor Regulatory Elements motif BACH1
  • Consensus sequence: AWWNTGCTGAGTCAT Submotif: canonical Cell Type: K562 GEO ID: GSE31477

Clone Products

  • Addgene plasmids for BACH1

No data available for Enzyme Numbers (IUBMB) and Human Phenotype Ontology for BACH1 Gene

Localization for BACH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BACH1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BACH1 gene
Compartment Confidence
nucleus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BACH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 12511571
GO:0005737 cytoplasm HDA 16791210
GO:0005829 colocalizes_with cytosol HDA 16780588
genes like me logo Genes that share ontologies with BACH1: view

Pathways & Interactions for BACH1 Gene

PathCards logo

SuperPathways for BACH1 Gene

genes like me logo Genes that share pathways with BACH1: view

Pathways by source for BACH1 Gene

2 BioSystems pathways for BACH1 Gene
1 Qiagen pathway for BACH1 Gene
  • BRCA1 Pathway

SIGNOR curated interactions for BACH1 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BACH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle IMP 21555518
GO:0000117 regulation of transcription involved in G2/M transition of mitotic cell cycle IMP 21555518
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,IMP 21555518
GO:0006281 DNA repair IMP 11301010
GO:0006355 regulation of transcription, DNA-templated IEA,ISS --
genes like me logo Genes that share ontologies with BACH1: view

Drugs & Compounds for BACH1 Gene

(7) Drugs for BACH1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isoniazid Approved, Investigational Pharma 202

(1) Additional Compounds for BACH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BACH1: view

Transcripts for BACH1 Gene

mRNA/cDNA for BACH1 Gene

(3) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for BACH1

Alternative Splicing Database (ASD) splice patterns (SP) for BACH1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: - -

Relevant External Links for BACH1 Gene

GeneLoc Exon Structure for
BACH1
ECgene alternative splicing isoforms for
BACH1

Expression for BACH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BACH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BACH1 Gene

This gene is overexpressed in Whole Blood (x5.1).

Protein differential expression in normal tissues from HIPED for BACH1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (33.7), Monocytes (12.4), and Testis (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BACH1 Gene



Protein tissue co-expression partners for BACH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BACH1 Gene:

BACH1

SOURCE GeneReport for Unigene cluster for BACH1 Gene:

Hs.154276
genes like me logo Genes that share expression patterns with BACH1: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for BACH1 Gene

Orthologs for BACH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BACH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BACH1 33 32
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BACH1 33 32
  • 88.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BACH1 33 32
  • 81.53 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bach1 17 33 32
  • 79.68 (n)
rat
(Rattus norvegicus)
Mammalia Bach1 32
  • 79.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BACH1 33
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BACH1 33
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves BACH1 33 32
  • 69.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BACH1 33
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bach1 32
  • 58.61 (n)
Str.14783 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.16158 32
zebrafish
(Danio rerio)
Actinopterygii bach1 33
  • 46 (a)
OneToMany
BACH1 (2 of 2) 33
  • 30 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta cnc 33
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 22 (a)
OneToMany
Species where no ortholog for BACH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BACH1 Gene

ENSEMBL:
Gene Tree for BACH1 (if available)
TreeFam:
Gene Tree for BACH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BACH1: view image

Paralogs for BACH1 Gene

(20) SIMAP similar genes for BACH1 Gene using alignment to 9 proteins:

  • BACH1_HUMAN
  • C9IYH8_HUMAN
  • C9IYR0_HUMAN
  • C9JMP6_HUMAN
  • F8VZL7_HUMAN
  • H7C4B6_HUMAN
  • M0QZP0_HUMAN
  • Q6ICU0_HUMAN
  • Q9BXM4_HUMAN
genes like me logo Genes that share paralogs with BACH1: view

Variants for BACH1 Gene

Sequence variations from dbSNP and Humsavar for BACH1 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1569017478 uncertain-significance, Cerebellar vermis hypoplasia 29,329,641(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000001670 -- 29,318,518(+) C/T intron_variant
rs1000007242 -- 29,360,651(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000034184 -- 29,302,093(+) C/G genic_upstream_transcript_variant, intron_variant
rs1000066771 -- 29,317,079(+) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BACH1 Gene

Variant ID Type Subtype PubMed ID
nsv1072596 CNV deletion 25765185
nsv1118931 CNV deletion 24896259
nsv472546 CNV novel sequence insertion 20440878

Variation tolerance for BACH1 Gene

Residual Variation Intolerance Score: 24.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.96; 49.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BACH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BACH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BACH1 Gene

Disorders for BACH1 Gene

Additional Disease Information for BACH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for BACH1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BACH1 Gene

Publications for BACH1 Gene

  1. Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1. (PMID: 9544839) Blouin JL … Antonarakis SE (Human genetics 1998) 2 3 4 23 56
  2. Characterization of a human homolog (BACH1) of the mouse Bach1 gene encoding a BTB-basic leucine zipper transcription factor and its mapping to chromosome 21q22.1. (PMID: 9479503) Ohira M … Ohara O (Genomics 1998) 2 3 4 23 56
  3. Parallel SCF adaptor capture proteomics reveals a role for SCFFBXL17 in NRF2 activation via BACH1 repressor turnover. (PMID: 24035498) Tan MK … Harper JW (Molecular cell 2013) 3 4 56
  4. Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations. (PMID: 22158540) Wu C … Lin D (Nature genetics 2011) 3 43 56
  5. A role for Bach1 and HO-2 in suppression of basal and UVA-induced HO-1 expression in human keratinocytes. (PMID: 19874887) Zhong JL … Tyrrell RM (Free radical biology & medicine 2010) 3 23 56

Products for BACH1 Gene

Sources for BACH1 Gene