Gene Gene information from NCBI Gene database.
Entrez ID 571
Gene name BTB domain and CNC homolog 1
Gene symbol BACH1
Synonyms (NCBI Gene)
BACH-1BTBD24
Chromosome 21
Chromosome location 21q21.3
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
miRNA miRNA information provided by mirtarbase database.
1382
miRTarBase ID miRNA Experiments Reference
MIRT001043 hsa-miR-155-5p Luciferase reporter assay 17881434
MIRT001043 hsa-miR-155-5p Luciferase reporter assay 17881434
MIRT001043 hsa-miR-155-5p Luciferase reporter assay 17881434
MIRT001043 hsa-miR-155-5p Luciferase reporter assay 17881434
MIRT003981 kshv-miR-K12-11-3p Luciferase reporter assay 17881434
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
BRCA1 Unknown 14576433
GATA1 Activation 16492768
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 12511571, 24035498
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 21555518
GO:0000122 Process Negative regulation of transcription by RNA polymerase II NAS 33897412
GO:0000785 Component Chromatin ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602751 935 ENSG00000156273
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14867
Protein name Transcription regulator protein BACH1 (BTB and CNC homolog 1) (HA2303)
Protein function Transcriptional regulator that acts as a repressor or activator, depending on the context. Binds to NF-E2 DNA binding sites. Plays important roles in coordinating transcription activation and repression by MAFK (By similarity). Together with MAF
PDB 2IHC , 8S7D , 8UA3 , 8UA6 , 8UAH , 8UBT , 8UBU , 8UBV , 9GP5 , 9GR9 , 9GRA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 24 129 BTB/POZ domain Domain
PF03131 bZIP_Maf 528 622 bZIP Maf transcription factor Coiled-coil
Sequence
MSLSENSVFAYESSVHSTNVLLSLNDQRKKDVLCDVTIFVEGQRFRAHRSVLAACSSYFH
SRIVGQADGELNITLPEEVTVKGFEPLIQFAYTAKLILSKENVDEVCKCVEFLSVHNIEE
SCFQFLKFK
FLDSTADQQECPRKKCFSSHCQKTDLKLSLLDQRDLETDEVEEFLENKNVQ
TPQCKLRRYQGNAKASPPLQDSASQTYESMCLEKDAALALPSLCPKYRKFQKAFGTDRVR
TGESSVKDIHASVQPNERSENECLGGVPECRDLQVMLKCDESKLAMEPEETKKDPASQCP
TEKSEVTPFPHNSSIDPHGLYSLSLLHTYDQYGDLNFAGMQNTTVLTEKPLSGTDVQEKT
FGESQDLPLKSDLGTREDSSVASSDRSSVEREVAEHLAKGFWSDICSTDTPCQMQLSPAV
AKDGSEQISQKRSECPWLGIRISESPEPGQRTFTTLSSVNCPFISTLSTEGCSSNLEIGN
DDYVSEPQQEPCPYACVISLGDDSETDTEGDSESCSAREQECEVKLPFNAQRIISLSRND
FQSLLKMHKLTPEQLDCIHDIRRRSKNRIAAQRCRKRKLDCIQNLESEIEKLQSEKESLL
KERDHILSTLGETKQNLTGLCQ
KVCKEAALSQEQIQILAKYSAADCPLSFLISEKDKSTP
DGELALPSIFSLSDRPPAVLPPCARGNSEPGYARGQESQQMSTATSEQAGPAEQCRQSGG
ISDFCQQMTDKCTTDE
Sequence length 736
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BACH1-related disorder Benign; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cerebellar vermis hypoplasia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations