BACH1

Summary

BACH1 (BACH transcriptional regulator 1, HGNC:935) is a protein-coding gene on chromosome 21q21.3, encoding Transcription regulator protein BACH1 (O14867). Transcriptional regulator that acts as a repressor or activator, depending on the context.

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.

Source: NCBI Gene 571 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 117 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_001186

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:935
Approved symbol	BACH1
Name	BACH transcriptional regulator 1
Location	21q21.3
Locus type	gene with protein product
Status	Approved
Aliases	BACH-1, BTBD24
Ensembl gene	ENSG00000156273
Ensembl biotype	protein_coding
OMIM	602751
Entrez	571

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 27 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000286800, ENST00000399921, ENST00000422809, ENST00000435072, ENST00000447177, ENST00000451655, ENST00000462262, ENST00000468059, ENST00000546469, ENST00000547141, ENST00000548219, ENST00000548467, ENST00000550131, ENST00000888446, ENST00000888447, ENST00000888448, ENST00000888449, ENST00000888450, ENST00000927494, ENST00000927495, ENST00000927496, ENST00000927497, ENST00000927498, ENST00000953446, ENST00000953447, ENST00000953448, ENST00000953449, ENST00000953450

RefSeq mRNA: 2 — MANE Select: NM_001186 NM_001186, NM_206866

CCDS: CCDS13585

Canonical transcript exons

ENST00000286800 — 5 exons

Exon	Start	End
ENSE00001025546	29321221	29321514
ENSE00001025548	29326059	29327393
ENSE00001192071	29342399	29346148
ENSE00001376331	29298922	29298953
ENSE00003204163	29329487	29329693

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 98.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.9704 / max 1001.7097, expressed in 1814 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
188762	19.6130	1781
188764	6.2104	1349
188761	4.8157	1521
188760	3.7631	1375
188763	2.2513	1162
188766	0.6599	207
188759	0.3658	147
188770	0.3317	72
188758	0.2727	120
188769	0.1947	70

Top tissues by expression

286 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.12	gold quality
monocyte	CL:0000576	97.01	gold quality
mononuclear cell	CL:0000842	96.85	gold quality
leukocyte	CL:0000738	96.69	gold quality
oocyte	CL:0000023	95.75	gold quality
adrenal tissue	UBERON:0018303	94.29	gold quality
calcaneal tendon	UBERON:0003701	93.37	gold quality
bone marrow cell	CL:0002092	93.07	gold quality
blood	UBERON:0000178	92.69	gold quality
stromal cell of endometrium	CL:0002255	92.23	gold quality
sperm	CL:0000019	92.06	gold quality
granulocyte	CL:0000094	91.78	gold quality
cartilage tissue	UBERON:0002418	91.77	gold quality
bone marrow	UBERON:0002371	91.70	gold quality
amniotic fluid	UBERON:0000173	91.54	gold quality
colonic epithelium	UBERON:0000397	91.47	gold quality
skin of hip	UBERON:0001554	91.11	gold quality
esophagus squamous epithelium	UBERON:0006920	90.01	gold quality
periodontal ligament	UBERON:0008266	89.64	silver quality
gastrocnemius	UBERON:0001388	89.39	gold quality
male germ cell	CL:0000015	89.35	gold quality
gall bladder	UBERON:0002110	88.98	gold quality
jejunal mucosa	UBERON:0000399	88.90	gold quality
muscle of leg	UBERON:0001383	88.27	gold quality
ganglionic eminence	UBERON:0004023	88.04	gold quality
vermiform appendix	UBERON:0001154	87.91	gold quality
lower lobe of lung	UBERON:0008949	87.79	gold quality
upper leg skin	UBERON:0004262	87.65	gold quality
epithelium of esophagus	UBERON:0001976	87.35	gold quality
placenta	UBERON:0001987	87.23	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	30.12
E-ANND-3	yes	13.10
E-MTAB-6379	no	155.50

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA1633.1	BACH1	Jun-related
MA1633.2	BACH1	Jun-related

JASPAR matrix evidence (PMIDs): PMID:8887638

miRNA regulators (miRDB)

134 targeting BACH1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650

Literature-anchored findings (GeneRIF, showing 40)

• Bach1 functions as a hypoxia-inducible repressor for the HO-1 gene, thereby contributing to fine-tuning of oxygen homeostasis in human cells (PMID:12511571)
• nuclear export of Bach1 constitutes an important regulatory mechanism to relieve the Bach1-mediated repression of genes such as heme oxygenase 1 (PMID:14504288)
• Bach1 binding to the Maf recognition element in the microlocus control region is blocked by heme in the beta-globin regulation pathway (PMID:14660636)
• BACH1 plays a role in the development of Alzheimer’s disease (AD)-like neuropathology in Down syndrome and in pathogenesis of AD per se. (PMID:15068237)
• BACH1 protein is significantly overexpressed in fetal Down syndrome cerebral cortex and may contribute to abnormal brain development or at least to defective transcription machinery in Down syndrome. (PMID:15068251)
• These results indicated that heme plays an important role in the induction of alpha-globin gene expression through disrupting the interaction of Bach1 and the NA site in HS-40 enhancer in erythroid cells. (PMID:15464985)
• Bach-1 has a specific and selective ability to repress expression of hepatic heme oxygenase-1 (PMID:15465821)
• BACH1 acts as a transcriptional repressor in the regulation of Maf recognition-element-dependent genes in megakaryocytes. (PMID:15613547)
• key role of down-regulation of Bach1 and up-regulation of heme oxygenase 1 in diminishing cytotoxic effects of hepatitis C virus proteins in human hepatocytes. (PMID:16530877)
• Reviewer presents the Bach1-heme oxygenase(HO)-1 system as an important defense mechanism against oxidative stress–a mechanism in which Bach1 is a critical regulator of HO-1. (PMID:16724942)
• Data show that beta-carotene, combined with cigarette smoke condensate (TAR), regulates heme oxygenase-1 (HO-1) via its transcriptional factor Bach1 and modulates cell growth. (PMID:16771696)
• The effect of Bach1 and Nrf2 on heme oxygenase 1 expression via cobalt protoporphyrin in human liver cells is reported. (PMID:17065227)
• BACH-1 protein levels are low in cells expressing either the human miR-155 or miR-K12-11 of Kaposi’s sarcoma-associated herpesvirus. (PMID:17881434)
• Loss of BACH1 function in human keratinocytes results almost exclusively in HMOX1 induction (PMID:18550526)
• Bach1 inhibits expression of oxidative stress responsive genes by competing with Nrf2, the key activator of oxidative stress response. Bach1 inhibits p53-dependent cellular senescence induced by oxidative stress (PMID:19591297)
• regulates oxidative stress response in cellular senescence. (review) (PMID:19618874)
• ERK(1/2) and JNK are involved in cigarette smoking-induced biphasic HO-1 expression by a specific regulation of Nrf2/Keap1-Bach1. (PMID:19822148)
• prevents radiation-induced upregulation of heme oxygenase 1 gene expression in keratinocytes (PMID:19874887)
• miR-196 directly acts on the 3’-UTR of Bach1 messenger RNA and translationally represses the expression of this protein. (PMID:20127796)
• Bach1 plays a critical role in regulating HO-1 gene expression in AML cells and its expression suppresses their survival by downregulating HO-1 expression. (PMID:20345481)
• The BACH1 target genes in HEK 293 cells are involved in heme degradation, redox regulation, cell cycle/apoptosis pathways and subcellular transport processes. (PMID:21555518)
• The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle. (PMID:21555518)
• We conclude that BACH1 is a bona fide Nrf2 target gene and that induction of BACH1 by Nrf2 may serve as a feedback-inhibitory mechanism for antioxidant-response-element-mediated gene regulation. (PMID:21812759)
• Bach1 depletion resulted in disordered mitotic chromosome alignment, which was rescued by Bach1 mutants lacking the BTB or DNA binding domains, suggesting its transcription-independent mechanism. (PMID:22289179)
• miR-155 may function as an oncogene by targeting BACH1 (PMID:22307849)
• let-7 miRNA directly acts on the 3’-UTR of Bach1 and negatively regulates expression of this protein, and thereby up-regulates HMOX1 gene expression. (PMID:22698995)
• In colorectal cancer, Nrf2 expression is closely correlated with Keap1 in the tumor and with Bach1 in the normal tissue. (PMID:23455180)
• Data indicate that transcription factors MafK and Bach1 regulate expression of heme oxygenase-1 (HO-1). (PMID:23737527)
• The arsenic-induced Nrf2 pathway activation in hepatocytes suggested that the translocation of Bach1 was associated with the regulation of Nrf2 pathway by arsenic. (PMID:23738048)
• Identify a role for SCF(FBXL17) in controlling the threshold for NRF2-dependent gene activation via BACH1 repressor turnover. (PMID:24035498)
• CXCR3-B mediates a growth-inhibitory signal in breast cancer cells through the modulations of nuclear translocation of Bach-1 and Nrf2 and down-regulation of HO-1. (PMID:24366869)
• BACH1 acts in a double-negative (overall positive) feedback loop to inhibit RKIP transcription in breast cancer cells (PMID:24395801)
• The Bach1-dependent repression of the HO-1 expression is under the control of the Hx-dependent uptake of extracellular heme (PMID:24613679)
• Higher HMOX1 expression correlated with higher expression of Bach-1 (Spearman’s rho = 0.586, p = 0.000001) and miR-122 (Spearman’s rho = 0.270, p = 0.014059). (PMID:24752012)
• This study demonstrated that Bach1 overexpression in Down syndrome correlates with the alteration of the HO-1/BVR-a system. (PMID:25391381)
• Bach1 suppresses angiogenesis after ischemic injury and impairs Wnt/beta-catenin signaling by disrupting the interaction between beta-catenin and TCF4 and by recruiting histone deacetylase 1 to the promoter of TCF4-targeted genes. (PMID:26123998)
• sensitizer-induced up-regulation of both the endogenous HMOX1 and the luciferase constructs under the control of the HMOX1-ARE or the full HMOX1 promoter appear to be under the control of both Nrf2 and Bach1. (PMID:26244607)
• This study indicates that the expression of BACH1 could be elevated as a compensatory mechanism to decrease the globin chain imbalance as well as to reduce the oxidative stress found in hemoglobin E/beta-thalassemia. (PMID:26377036)
• Cyanidin-3-O-glucoside protects HUVECs from palmitic acid-induced injuryby modulating the balance of Nrf2 versus Bach1 inside the nucleus so influencing upregulation of electrophile responsive element mediated gene expression. (PMID:26422990)
• heme oxygenase-1 expression is induced by gold nanoparticles through Nrf2 activation and Bach1 export in human vascular endothelial cells (PMID:26445536)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	bach1b	ENSDARG00000002196
danio_rerio	bach1a	ENSDARG00000062553
mus_musculus	Bach1	ENSMUSG00000025612
rattus_norvegicus	Bach1	ENSRNOG00000001582

Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL42 (ENSG00000087448), KLHL22 (ENSG00000099910), KLHL4 (ENSG00000102271), KLHL2 (ENSG00000109466), KLHL5 (ENSG00000109790), BACH2 (ENSG00000112182), KLHL18 (ENSG00000114648), KLHL24 (ENSG00000114796), IVNS1ABP (ENSG00000116679), KLHL12 (ENSG00000117153), KLHL29 (ENSG00000119771), KBTBD7 (ENSG00000120696), KLHL7 (ENSG00000122550), KLHL31 (ENSG00000124743), KLHDC7B (ENSG00000130487), KLHL36 (ENSG00000135686), KLHL8 (ENSG00000145332), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), KLHL1 (ENSG00000150361), KLHL40 (ENSG00000157119), KLHL10 (ENSG00000161594), KLHL21 (ENSG00000162413), KLHDC8A (ENSG00000162873), KBTBD8 (ENSG00000163376), KBTBD6 (ENSG00000165572), KLHL26 (ENSG00000167487), KLHL30 (ENSG00000168427), KBTBD2 (ENSG00000170852), KLHL6 (ENSG00000172578), KLHL15 (ENSG00000174010), KLHL38 (ENSG00000175946), KBTBD11 (ENSG00000176595), KLHDC7A (ENSG00000179023), KLHL28 (ENSG00000179454), KBTBD3 (ENSG00000182359), KLHL33 (ENSG00000185271)

Protein

Protein identifiers

Transcription regulator protein BACH1 — O14867 (reviewed: O14867)

Alternative names: BTB and CNC homolog 1, HA2303

All UniProt accessions (7): O14867, C9IYH8, C9IYR0, C9JMP6, F8VZL7, H7C4B6, M0QZP0

UniProt curated annotations — full annotation on UniProt →

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. Together with MAF, represses the transcription of genes under the control of the NFE2L2 oxidative stress pathway.

Subunit / interactions. Heterodimer of BACH1 and MAFK.

Subcellular location. Nucleus.

Post-translational modifications. Ubiquitinated by the SCF(FBXL17) complex or by the by the SCF(FBXO22) complex, leading to its degradation by the proteasome. Under oxidative stress, reactive oxygen species covalently modify cysteine residues on the bZIP domain of BACH1 and release it from chromatin. If the BTB domain of BACH1 remains intact, its beta1-alpha6 degron is recognized by FBXO22, promoting its ubiquitination and degradation. If the structural integrity of the beta1-alpha6 degron is compromised, FBXL17 will transiently associate with the BACH1 BTB dimer and remodel it into stably bound monomer for ubiquitination and degradation.

Similarity. Belongs to the bZIP family. CNC subfamily.

RefSeq proteins (2): NP_001177, NP_996749 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR004826	bZIP_Maf	Domain
IPR004827	bZIP	Domain
IPR008917	TF_DNA-bd_sf	Homologous_superfamily
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR043321	bZIP_BACH	Domain
IPR046347	bZIP_sf	Homologous_superfamily
IPR050457	ZnFinger_BTB_dom_contain	Family

Pfam: PF00651, PF03131

Enzyme classification (BRENDA):

• EC 3.6.4.12 — DNA helicase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

UniProt features (29 total): strand 6, helix 6, region of interest 5, modified residue 3, domain 2, sequence conflict 2, compositionally biased region 2, chain 1, sequence variant 1, turn 1

Structure

Experimental structures (PDB)

12 structures.

PDB	Method	Resolution (Å)
9GRA	X-RAY DIFFRACTION	1.47
9GP5	X-RAY DIFFRACTION	1.9
9GR9	X-RAY DIFFRACTION	2.25
2IHC	X-RAY DIFFRACTION	2.44
8UBT	ELECTRON MICROSCOPY	3.1
8S7D	ELECTRON MICROSCOPY	3.2
8UAH	ELECTRON MICROSCOPY	3.3
8UA3	ELECTRON MICROSCOPY	3.8
8UA6	ELECTRON MICROSCOPY	3.9
8UBV	ELECTRON MICROSCOPY	4.1
29HH	ELECTRON MICROSCOPY	4.2
8UBU	ELECTRON MICROSCOPY	4.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14867-F1	57.17	0.22

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 196, 364, 445

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-9707587	Regulation of HMOX1 expression and activity
R-HSA-9707616	Heme signaling
R-HSA-9708530	Regulation of BACH1 activity
R-HSA-9818027	NFE2L2 regulating anti-oxidant/detoxification enzymes
R-HSA-2262752	Cellular responses to stress
R-HSA-8953897	Cellular responses to stimuli
R-HSA-9707564	Cytoprotection by HMOX1
R-HSA-9711123	Cellular response to chemical stress
R-HSA-9755511	KEAP1-NFE2L2 pathway
R-HSA-9759194	Nuclear events mediated by NFE2L2

MSigDB gene sets: 330 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, GGGACCA_MIR133A_MIR133B, AP1_01, ACTACCT_MIR196A_MIR196B, BROWNE_HCMV_INFECTION_6HR_DN, AAGCCAT_MIR135A_MIR135B, AP4_Q6, CHX10_01, CAGCTG_AP4_Q5, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, MARTINEZ_RB1_TARGETS_UP, AP1_Q4_01, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, MYOD_01, AAACCAC_MIR140

GO Biological Process (6): negative regulation of transcription by RNA polymerase II (GO:0000122), DNA repair (GO:0006281), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), regulation of gene expression (GO:0010468), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), heme binding (GO:0020037), ligand-modulated transcription factor activity (GO:0098531), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), RNA polymerase II transcription regulator complex (GO:0090575)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Cellular responses to stress	2
KEAP1-NFE2L2 pathway	2
Cellular response to chemical stress	2
Cytoprotection by HMOX1	1
Nuclear events mediated by NFE2L2	1
Cellular responses to stimuli	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	4
cellular anatomical structure	4
regulation of transcription by RNA polymerase II	3
transcription by RNA polymerase II	3
regulation of DNA-templated transcription	2
DNA-binding transcription factor activity	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
negative regulation of DNA-templated transcription	1
DNA metabolic process	1
DNA damage response	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
gene expression	1
regulation of macromolecule biosynthetic process	1
positive regulation of DNA-templated transcription	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription repressor activity	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
tetrapyrrole binding	1
nucleic acid binding	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
transcription regulator complex	1
nuclear protein-containing complex	1

Protein interactions and networks

STRING

802 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BACH1	MAF	O75444	802
BACH1	MAFF	Q9ULX9	727
BACH1	HMOX1	P09601	512
BACH1	BRCA1	P38398	460
BACH1	ELAVL1	Q15717	449
BACH1	PGAM5	Q96HS1	393
BACH1	FBXO22	Q8NEZ5	385
BACH1	TXN2	Q99757	381
BACH1	PRKG1	P14619	374
BACH1	VCP	P55072	368
BACH1	MAFK	O60675	365
BACH1	GCLC	P48506	365
BACH1	HMMR	O75330	357
BACH1	PDE1B	Q01064	353
BACH1	ATP6V0D1	P12953	353
BACH1	BPGM	P07738	353

IntAct

100 interactions, top by confidence:

A	B	Type	Score
CSNK1A1	FAM83G	psi-mi:“MI:0914”(association)	0.900
MAFG	BACH1	psi-mi:“MI:0407”(direct interaction)	0.870
BACH1	MAFG	psi-mi:“MI:0407”(direct interaction)	0.870
BACH1	MAFG	psi-mi:“MI:0914”(association)	0.870
BACH1	MAFF	psi-mi:“MI:0407”(direct interaction)	0.810
MAFF	BACH1	psi-mi:“MI:0407”(direct interaction)	0.810
ATF2	BACH1	psi-mi:“MI:0407”(direct interaction)	0.780
ATF2	BACH1	psi-mi:“MI:0914”(association)	0.780
MAFB	BACH1	psi-mi:“MI:0407”(direct interaction)	0.750
BACH1	MAFB	psi-mi:“MI:0407”(direct interaction)	0.750
MAFB	BACH1	psi-mi:“MI:0915”(physical association)	0.750
FBXL17	BACH1	psi-mi:“MI:0914”(association)	0.730
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
MAFK	BACH1	psi-mi:“MI:0914”(association)	0.730
ATF7	BACH1	psi-mi:“MI:0407”(direct interaction)	0.690
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
DDIT3	BACH1	psi-mi:“MI:0407”(direct interaction)	0.620
BACH1	PRKN	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (204): BACH1 (Affinity Capture-RNA), BACH1 (Affinity Capture-RNA), BACH1 (Affinity Capture-RNA), BACH1 (Affinity Capture-MS), BACH1 (Affinity Capture-MS), BACH1 (Affinity Capture-MS), BACH1 (Affinity Capture-MS), HMMR (Affinity Capture-MS), MAFG (Affinity Capture-MS), PLRG1 (Affinity Capture-MS), TAF4B (Affinity Capture-MS), DDX39B (Affinity Capture-MS), MAFK (Affinity Capture-MS), PABPN1 (Affinity Capture-MS), MAFF (Affinity Capture-MS)

ESM2 similar proteins: A1L224, A2VD01, A7YWL5, D3ZLB7, O02761, O14867, O54968, O77628, O88479, O97930, P01100, P01101, P01102, P10158, P11939, P12841, P13346, P15407, P23050, P29176, P48755, P53450, P53539, P70298, P79702, P97302, P97303, Q06507, Q08CW8, Q14140, Q1ECW2, Q56TN0, Q56TT7, Q5RCM9, Q60795, Q64210, Q66HA2, Q6NW59, Q6P9J5, Q6QDP7

Diamond homologs: A0JN76, A1L2U9, A1YEX3, A1YPR0, A2AAX3, B1WAZ8, B1WBS3, B1WBU4, B2RXF5, D3ZA50, O14867, O15062, O15156, O15209, O43167, O43298, O43829, O88282, O88939, O93567, O95365, P24278, P41182, P41183, P52739, P97302, P97303, Q08376, Q0IH98, Q0IJ29, Q0P4X6, Q0VCJ6, Q13105, Q14526, Q1H9T6, Q1L8W0, Q2T9Z7, Q3B725, Q3B7N9, Q3SWU4

SIGNOR signaling

8 interactions.

A	Effect	B	Mechanism
FBXO22	“down-regulates quantity”	BACH1	ubiquitination
BACH1	“down-regulates quantity”	HMOX1	“transcriptional regulation”
BACH1	up-regulates	Metastasis
BACH1	“up-regulates quantity”	HK2	“transcriptional regulation”
BACH1	“up-regulates quantity”	GAPDH	“transcriptional regulation”
BACH1	“up-regulates quantity”	Hexokinase	“transcriptional regulation”
BACH1	“up-regulates activity”	MAFK	binding
RBCK1	“down-regulates quantity by destabilization”	BACH1	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 73 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
NGF-stimulated transcription	5	28.6×	5e-04
Aggrephagy	5	24.8×	5e-04
Factors involved in megakaryocyte development and platelet production	6	8.0×	8e-03
Signaling by Interleukins	6	7.7×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
integrated stress response signaling	8	82.6×	2e-11
in utero embryonic development	8	8.5×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

117 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	102
Likely benign	5
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

4851 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:29329539:T:C	F541S	1.000
21:29329602:G:C	R562P	1.000
21:29329605:G:C	R563T	1.000
21:29329605:G:T	R563I	1.000
21:29329606:A:C	R563S	1.000
21:29329606:A:T	R563S	1.000
21:29329609:A:C	R564S	1.000
21:29329609:A:T	R564S	1.000
21:29329613:A:G	K566E	1.000
21:29329614:A:C	K566T	1.000
21:29329614:A:T	K566I	1.000
21:29329615:A:C	K566N	1.000
21:29329615:A:T	K566N	1.000
21:29329616:A:G	N567D	1.000
21:29329618:C:A	N567K	1.000
21:29329618:C:G	N567K	1.000
21:29329621:A:C	R568S	1.000
21:29329621:A:T	R568S	1.000
21:29329626:C:A	A570D	1.000
21:29329628:G:C	A571P	1.000
21:29329634:C:A	R573S	1.000
21:29329635:G:C	R573P	1.000
21:29329637:T:C	C574R	1.000
21:29329640:C:A	R575S	1.000
21:29329641:G:C	R575P	1.000
21:29329647:G:C	R577T	1.000
21:29329648:A:C	R577S	1.000
21:29329648:A:T	R577S	1.000
21:29329649:A:G	K578E	1.000
21:29329651:A:C	K578N	1.000

dbSNP variants (sampled 300 via entrez): RS1000001670 (21:29318518 C>T), RS1000007242 (21:29360651 T>C), RS1000034184 (21:29302093 C>G), RS1000066771 (21:29317079 A>T), RS1000078718 (21:29299116 C>T), RS1000143597 (21:29355316 G>T), RS1000158769 (21:29312292 C>T), RS1000161209 (21:29354855 A>G), RS1000231340 (21:29345891 A>G), RS1000330956 (21:29357659 C>A,T), RS1000356452 (21:29330965 A>C,G), RS1000386626 (21:29348701 C>G), RS1000402953 (21:29357889 A>G), RS1000449422 (21:29305174 T>A), RS1000464254 (21:29313465 C>T)

Disease associations

OMIM: gene MIM:602751 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001350_3	Pancreatic cancer	2.000000e-13
GCST001525_22	Visceral fat	6.000000e-06
GCST003814_23	Selective IgA deficiency	5.000000e-06
GCST006014_29	Creatine kinase levels	2.000000e-22
GCST90011898_164	Alanine aminotransferase levels	1.000000e-16
GCST90011899_145	Aspartate aminotransferase levels	8.000000e-11
GCST90014033_76	Haemorrhoidal disease	4.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004534	creatine kinase measurement
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL4295651 (SINGLE PROTEIN), CHEMBL4523627 (PROTEIN-PROTEIN INTERACTION)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 7,981 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL48802	SULFORAPHANE	3	7,981

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

1 potent at pChembl≥5 of 2 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.50	IC50	3162	nM	CHEMBL4474353

PubChem BioAssay actives

1 with measured affinity, of 3 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
3-(dimethylamino)-4-[3-isothiocyanatopropyl(methyl)amino]cyclobut-3-ene-1,2-dione	1536358: Inhibition of Bach1-Mafk interaction (unknown origin) by luciferase reporter gene based enzyme fragment complementation assay	ic50	3.1623	uM

CTD chemical–gene interactions

105 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects localization, affects binding, decreases reaction, increases abundance, increases expression	4
Hemin	increases expression, affects cotreatment, affects localization, increases abundance, decreases activity (+3 more)	4
benzyloxycarbonylleucyl-leucyl-leucine aldehyde	increases degradation, increases reaction, increases ubiquitination, affects cotreatment, affects localization (+2 more)	3
Arsenic Trioxide	increases abundance, increases expression, affects localization, decreases reaction	3
Arsenic	decreases expression, affects localization, increases abundance, increases expression, affects methylation (+1 more)	3
arsenite	decreases activity, decreases localization, increases expression, affects binding, decreases reaction (+1 more)	2
Acetylcysteine	decreases reaction, increases expression, affects localization	2
Smoke	affects localization, decreases reaction, decreases expression	2
Tretinoin	affects cotreatment, increases expression	2
Valproic Acid	decreases expression, decreases methylation	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
tetrachlorobenzoquinone	increases expression, affects binding, affects localization, increases phosphorylation, decreases reaction (+5 more)	1
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
alpha-pyrrolidinononanophenone	decreases reaction, increases expression, affects cotreatment	1
dicrotophos	decreases expression	1
quinone	increases reaction, increases ubiquitination, affects localization	1
ethylene dimethacrylate	increases expression, increases reaction	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
cobaltiprotoporphyrin	affects cotreatment, increases expression, increases degradation, affects expression, affects reaction (+2 more)	1
lead acetate	decreases expression, decreases reaction, increases abundance, decreases response to substance, increases expression	1
methylselenic acid	increases expression	1
sodium arsenate	affects localization, increases abundance, increases expression	1
titanium dioxide	increases expression	1
cinnamaldehyde	increases expression, increases reaction	1
hydroxyhydroquinone	increases expression	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1

ChEMBL screening assays

139 unique, capped per target: 139 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4143856	Binding	Induction of bach-1 translocation into nucleus of human Ava5 cells after 3 days by Western blot method	Discovery of naphtho[1,2-d]oxazole derivatives as potential anti-HCV agents through inducing heme oxygenase-1 expression. — Eur J Med Chem

Cellosaurus cell lines

7 cell lines: 3 embryonic stem cell, 3 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A0F7	SEES3-1V human BACH1, clone1	Embryonic stem cell	Male
CVCL_A0F8	SEES3-1V human BACH1, clone2	Embryonic stem cell	Male
CVCL_A0F9	SEES3-1V human BACH1, clone3	Embryonic stem cell	Male
CVCL_AW14	K562 eGFP-BACH1	Cancer cell line	Female
CVCL_D8ZY	Ubigene HEK293 BACH1 KO	Transformed cell line	Female
CVCL_SE59	HAP1 BACH1 (-) 1	Cancer cell line	Male
CVCL_XL93	HAP1 BACH1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.