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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. 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: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 | -- |
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 |
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 | 11301010 |
GO:0006355 | regulation of transcription, DNA-templated | IEA,ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Isoniazid | Approved, Investigational | Pharma | 202 |
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 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | BACH1 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | BACH1 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Bach1 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Bach1 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | BACH1 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | BACH1 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | BACH1 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | BACH1 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | bach1 32 |
|
||
Str.14783 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16158 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | bach1 33 |
|
OneToMany | |
BACH1 (2 of 2) 33 |
|
OneToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | cnc 33 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1072596 | CNV | deletion | 25765185 |
nsv1118931 | CNV | deletion | 24896259 |
nsv472546 | CNV | novel sequence insertion | 20440878 |
No disorders were found for BACH1 Gene.