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Aliases for BACH1 Gene

Aliases for BACH1 Gene

  • BTB Domain And CNC Homolog 1 2
  • BTB And CNC Homology 1, Basic Leucine Zipper Transcription Factor 1 2 3 5
  • 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. Diseases associated with BACH1 include fanconi anemia, complementation group j and breast cancer. Among its related pathways are Integrated Breast Cancer Pathway and BRCA1 Pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and heme binding. An important paralog of this gene is NFE2.

UniProtKB/Swiss-Prot for BACH1 Gene

  • Transcriptional regulator that acts as repressor or activator. Binds, in vitro, to NF-E2 binding sites. Play important roles in coordinating transcription activation and repression by MAFK.

Gene Wiki entry for BACH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BACH1 Gene

Genomics for BACH1 Gene

Regulatory Elements for BACH1 Gene

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

Genomic Location for BACH1 Gene

Chromosome:
21
Start:
29,194,071 bp from pter
End:
29,630,751 bp from pter
Size:
436,681 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:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for BACH1 Gene

neXtProt entry for BACH1 Gene

Proteomics data for BACH1 Gene at MOPED

Post-translational modifications for BACH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for BACH1 Gene

Domains & Families for BACH1 Gene

Protein Domains for BACH1 Gene

Graphical View of Domain Structure for InterPro Entry

O14867

UniProtKB/Swiss-Prot:

BACH1_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Belongs to the bZIP family. CNC subfamily.
Domain:
  • Contains 1 BTB (POZ) domain.
  • Contains 1 bZIP (basic-leucine zipper) domain.
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

GENATLAS Biochemistry:
murine Bac-1 transcription factor homolog,ubiquitously expressed,interacting with MAFK,transcription repressor in fibroblasts,activator in cultured erythroid cells
UniProtKB/Swiss-Prot Function:
Transcriptional regulator that acts as repressor or activator. Binds, in vitro, to NF-E2 binding sites. Play important roles in coordinating transcription activation and repression by MAFK.

Gene Ontology (GO) - Molecular Function for BACH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IMP 21555518
GO:0001206 transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,ISS --
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IEA,IPI 20102225
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:

Animal Model 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

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
Jensen Localization Image for BACH1 Gene COMPARTMENTS Subcellular localization image for BACH1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for BACH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 colocalizes_with cytosol IDA 16780588
genes like me logo Genes that share ontologies with BACH1: view

Pathways & Interactions for BACH1 Gene

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

Pathways by source for BACH1 Gene

1 BioSystems pathway for BACH1 Gene
1 Qiagen pathway for BACH1 Gene

Gene Ontology (GO) - Biological Process for BACH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IMP 11301010
GO:0006355 regulation of transcription, DNA-templated IEA,ISS --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0016567 protein ubiquitination IBA --
genes like me logo Genes that share ontologies with BACH1: view

No data available for SIGNOR curated interactions for BACH1 Gene

Drugs & Compounds for BACH1 Gene

(4) Drugs for BACH1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) 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 :
(9) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BACH1 Gene

BTB and CNC homology 1, basic leucine zipper transcription factor 1:
Representative Sequences:

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 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, PaxDb, MOPED, and MaxQB for BACH1 Gene



SOURCE GeneReport for Unigene cluster for BACH1 Gene Hs.154276

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

Protein tissue co-expression partners for BACH1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
dog
(Canis familiaris)
Mammalia BACH1 35
  • 88.41 (n)
  • 87.64 (a)
BACH1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bach1 35
  • 79.68 (n)
  • 80.82 (a)
Bach1 16
Bach1 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BACH1 35
  • 99.64 (n)
  • 99.73 (a)
BACH1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bach1 35
  • 79.64 (n)
  • 80 (a)
cow
(Bos Taurus)
Mammalia BACH1 36
  • 81 (a)
OneToOne
BACH1 35
  • 81.53 (n)
  • 83.13 (a)
oppossum
(Monodelphis domestica)
Mammalia BACH1 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BACH1 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves BACH1 35
  • 69.35 (n)
  • 65.89 (a)
BACH1 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BACH1 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bach1 35
  • 58.61 (n)
  • 52.5 (a)
Str.14783 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.16158 35
zebrafish
(Danio rerio)
Actinopterygii bach1 36
  • 46 (a)
OneToMany
BACH1 (2 of 2) 36
  • 30 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta cnc 36
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToMany
Species with no ortholog for BACH1:
  • 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)

Paralogs for BACH1 Gene

Paralogs for BACH1 Gene

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 Sequence Context AA Info Type
rs35474725 - 29,326,764(-) TATGG(A/G)AGAAT nc-transcript-variant, reference, missense
rs11532 -- 29,345,608(+) TTTTT(A/T)ACAGT intron-variant, utr-variant-3-prime
rs15092 -- 29,345,880(+) TGGTA(A/G)AAGAT intron-variant, utr-variant-3-prime
rs117213 -- 29,348,215(+) CTGGA(A/G)TTGTC intron-variant
rs117214 -- 29,348,513(+) GTGTT(C/T)TGTAA intron-variant

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)

Relevant External Links for BACH1 Gene

HapMap Linkage Disequilibrium report
BACH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BACH1 Gene

Disorders for BACH1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BACH1 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group j
  • fanconi anemia complementation group j
breast cancer
  • breast cancer, invasive ductal
- elite association - COSMIC cancer census association via MalaCards
Search BACH1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BACH1

Genetic Association Database (GAD)
BACH1
Human Genome Epidemiology (HuGE) Navigator
BACH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BACH1
genes like me logo Genes that share disorders with BACH1: view

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

Publications for BACH1 Gene

  1. 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 67
  2. Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1. (PMID: 9544839) Blouin J.-L. … Antonarakis S.E. (Hum. Genet. 1998) 2 3 23
  3. A role for Bach1 and HO-2 in suppression of basal and UVA-induced HO-1 expression in human keratinocytes. (PMID: 19874887) Zhong J.L. … Tyrrell R.M. (Free Radic. Biol. Med. 2010) 3 23
  4. MicroRNA-196 represses Bach1 protein and hepatitis C virus gene expression in human hepatoma cells expressing hepatitis C viral proteins. (PMID: 20127796) Hou W. … Bonkovsky H.L. (Hepatology 2010) 3 23
  5. Prolonged cigarette smoke exposure decreases heme oxygenase-1 and alters Nrf2 and Bach1 expression in human macrophages: roles of the MAP kinases ERK(1/2) and JNK. (PMID: 19822148) Goven D. … Bonay M. (FEBS Lett. 2009) 3 23

Products for BACH1 Gene

Sources for BACH1 Gene

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