Free for academic non-profit institutions. Other users need a Commercial license
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]
BACH1 (BTB Domain And CNC Homolog 1) is a Protein Coding gene. Diseases associated with BACH1 include Breast Cancer. 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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA,IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 12511571 |
GO:0005737 | cytoplasm | HDA | 16791210 |
GO:0005829 | colocalizes_with cytosol | HDA | 16780588 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | BRCA1 Pathway |
BRCA1 Pathway
-
|
|
2 | Integrated Breast Cancer Pathway | ||
3 | Integrated Cancer Pathway |
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 | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA,ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Isoniazid | Approved, Investigational | Pharma | 215 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||
SP5: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BACH1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BACH1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BACH1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bach1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bach1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | BACH1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BACH1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BACH1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BACH1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bach1 30 |
|
||
Str.14783 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16158 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bach1 31 |
|
OneToMany | |
BACH1 (2 of 2) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | cnc 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1569017478 | Uncertain Significance: Cerebellar vermis hypoplasia | 29,329,641(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs35474725 | - | p.Ser314Pro |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1072596 | CNV | deletion | 25765185 |
nsv1118931 | CNV | deletion | 24896259 |
nsv472546 | CNV | novel sequence insertion | 20440878 |
Disorder | Aliases | PubMed IDs |
---|---|---|
breast cancer |
|
|