Details for: BAHD1

Gene ID: 22893

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: BAHD1

Ensembl ID: ENSG00000140320

Description: bromo adjacent homology domain containing 1

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • mucosal invariant T cell CL0000940
    CSI 4.91
    rCSI 3.97%
    PRS 99.04
  • VIP GABAergic cortical interneuron CL4023016
    CSI 2.84
    rCSI 3.39%
    PRS 92.65
  • cerebral cortex endothelial cell CL1001602
    CSI 2.65
    rCSI 4.58%
    PRS 95.58
  • extravillous trophoblast CL0008036
    CSI 2.53
    rCSI 3.12%
    PRS 96.65
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.3
    rCSI 2.87%
    PRS 91.26
  • sst GABAergic cortical interneuron CL4023017
    CSI 2.21
    rCSI 2.85%
    PRS 93.13
  • astrocyte of the cerebral cortex CL0002605
    CSI 1.96
    rCSI 4.38%
    PRS 92.95
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 1.93
    rCSI 3.24%
    PRS 92.87
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1.85
    rCSI 3.26%
    PRS 92.57
  • sncg GABAergic cortical interneuron CL4023015
    CSI 1.75
    rCSI 2.81%
    PRS 92.88
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 1.11
    rCSI 2.69%
    PRS 91.21
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 0.66
    rCSI 2.37%
    PRS 91.4

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [BAHD1](/details-gene/22893) (Bromo Adjacent Homology Domain Containing 1) is a protein-coding gene located on chromosome 15q15.1. The encoded protein is a key component of a chromatin silencing complex, functioning primarily as a transcriptional repressor through its involvement in [heterochromatin formation](/details-cell/GO:0031507) and [chromatin binding](/details-cell/GO:0003682). This role in epigenetic regulation establishes and maintains cellular identity by silencing specific gene expression programs. **Overall**, expression data reveals a notable significance for [BAHD1](/details-gene/22893) in specialized immune populations, particularly [mucosal invariant T cells](/details-cell/CL0000940), as well as in a diverse array of neuronal and glial cell types within the central nervous system. Its function as an epigenetic silencer is critical for normal development and has been implicated in host-pathogen interactions ([Link](https://doi.org/10.1126/science.1200120)) and erythropoiesis ([Link](https://doi.org/10.1182/blood.2020007809)). ## Cellular Roles and Expression Landscape The expression profile of [BAHD1](/details-gene/22893) highlights its importance in maintaining the specialized states of terminally differentiated cells across different systems. Its most significant expression is observed in [mucosal invariant T cells](/details-cell/CL0000940) (CSI: 4.91), a subset of innate-like T cells crucial for mucosal immunity. This suggests [BAHD1](/details-gene/22893) plays a critical role in establishing or maintaining the unique transcriptional identity of this lineage. Beyond the immune system, [BAHD1](/details-gene/22893) demonstrates a broad and significant role within the central nervous system. It is notably active in multiple subtypes of inhibitory interneurons, including [VIP GABAergic cortical interneurons](/details-cell/CL4023016) (CSI: 2.84), [pvalb GABAergic cortical interneurons](/details-cell/CL4023018) (CSI: 2.30), and [sst GABAergic cortical interneurons](/details-cell/CL4023017) (CSI: 2.21). Its significance extends to other neural cell types such as [cerebral cortex endothelial cells](/details-cell/CL1001602) (CSI: 2.65), [astrocytes of the cerebral cortex](/details-cell/CL0002605) (CSI: 1.96), and various glutamatergic neurons. This widespread expression across diverse neural cell types points to a fundamental role in epigenetic regulation necessary for proper brain function and cellular homeostasis. Additionally, its high significance in [extravillous trophoblasts](/details-cell/CL0008036) (CSI: 2.53) suggests a potential role during placental development. ## Pathways and Molecular Function Functionally, [BAHD1](/details-gene/22893) is intrinsically linked to epigenetic gene regulation. The Gene Ontology annotations place it within the [nucleoplasm](/details-cell/GO:0005654) as a component of the [chromatin silencing complex](/details-cell/GO:0005677). Its molecular functions are centered on its ability to bind to chromatin ([GO:0003682](/details-cell/GO:0003682)) and transcription cis-regulatory regions ([GO:0000976](/details-cell/GO:0000976)). The primary biological process mediated by [BAHD1](/details-gene/22893) is the [negative regulation of dna-templated transcription](/details-cell/GO:0045892), which it achieves by promoting [heterochromatin formation](/details-cell/GO:0031507). This mechanism allows [BAHD1](/details-gene/22893) to enforce gene silencing programs that are critical for cell fate determination and maintenance. Seminal work has confirmed that human [BAHD1](/details-gene/22893) is a key factor in promoting heterochromatic gene silencing ([Link](https://doi.org/10.1073/pnas.0901259106)). This core function is consistent with its high expression in specialized cells like [mucosal invariant T cells](/details-cell/CL0000940) and cortical interneurons, where a stable and specific gene expression pattern is paramount for their function. ## Research Directions The role of [BAHD1](/details-gene/22893) as a fundamental epigenetic repressor in diverse and highly specialized cell types opens several avenues for future investigation. **Proposed Hypotheses:** 1. Given its top significance in [mucosal invariant T cells](/details-cell/CL0000940), [BAHD1](/details-gene/22893) is essential for maintaining the lineage identity of these cells by repressing genes associated with conventional T cell fates or other innate lymphoid cell programs. 2. In the context of infection, as bacterial effectors can target the BAHD1 complex ([Link](https://doi.org/10.1126/science.1200120)), [BAHD1](/details-gene/22893) may function as a molecular switch in mucosal immune cells, where its inactivation by pathogens leads to the de-repression of pro-inflammatory genes like type III interferons. 3. The consistent expression of [BAHD1](/details-gene/22893) across multiple GABAergic interneuron subtypes suggests it orchestrates a common repressive program essential for inhibitory neuron function, with its disruption potentially contributing to neurodevelopmental disorders or epilepsy characterized by an excitation/inhibition imbalance. **Key Experimental Approach:** To test the hypothesis regarding the role of [BAHD1](/details-gene/22893) in [mucosal invariant T cells](/details-cell/CL0000940), a compelling experiment would involve the generation of a conditional knockout mouse model where *Bahd1* is specifically deleted in T cells (e.g., using a *Cd4-Cre* driver). MAIT cells could then be isolated from the gut mucosa and spleen of these knockout mice and compared to wild-type controls. A combination of single-cell RNA-sequencing (scRNA-seq) and Assay for Transposase-Accessible Chromatin using sequencing (ATAC-seq) would reveal changes in the transcriptome and chromatin landscape. This approach would directly test whether the loss of [BAHD1](/details-gene/22893) leads to lineage instability, characterized by aberrant gene expression and altered chromatin accessibility at loci normally silenced in mature MAIT cells. **Therapeutic Potential:** As a chromatin-modifying enzyme, [BAHD1](/details-gene/22893) is a plausible target for epigenetic therapies. Its role in silencing gene expression could be exploited in diseases driven by aberrant gene activation. For instance, in certain cancers or autoimmune conditions, small molecule inhibitors that block the repressive function of [BAHD1](/details-gene/22893) could be used to reactivate tumor suppressor genes or immunomodulatory pathways. Conversely, strategies to enhance or stabilize the BAHD1 complex could be beneficial in contexts where gene silencing is desired. For example, inhibiting its degradation, which is mediated by FBXO11 during erythropoiesis ([Link](https://doi.org/10.1182/blood.2020007809)), could represent a novel approach to modulate cell differentiation in hematological disorders.

Genular Protein ID: 4286526371

Symbol: BAHD1_HUMAN

Name: Bromo adjacent homology domain-containing 1 protein

UniProtKB Accession Codes:

Q8TBE0 Q8NDF7 Q9Y2F4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 3 ExpressionAtlas 1 GO 7 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 3 SMART 1 SMR 1 STRING 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10231032

Title: Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10231032

DOI: 10.1093/dnares/6.1.63

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19666599

Title: Human BAHD1 promotes heterochromatic gene silencing.

PubMed ID: 19666599

DOI: 10.1073/pnas.0901259106

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21252314

Title: A bacterial protein targets the BAHD1 chromatin complex to stimulate type III interferon response.

PubMed ID: 21252314

DOI: 10.1126/science.1200120

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 33156908

Title: FBXO11-mediated proteolysis of BAHD1 relieves PRC2-dependent transcriptional repression in erythropoiesis.

PubMed ID: 33156908

DOI: 10.1182/blood.2020007809

Sequence Information:

  • Length: 780
  • Mass: 84652
  • Checksum: DDCAA05DFAA6D982
  • Sequence:
    • MTHTRRKSLP MLSSGLTGRR EPLQMEDSNM EQGVEGVEPG MPESPGHLTG RRKNYPLRKR 
PLVPEKPKAC KVLLTRLENV AGPRSADEAD ELPPDLPKPP SPAPSSEDPG LAQPRKRRLA 
SLNAEALNNL LLEREDTSSL AGTRRSRAGD PHRSRDRDRA TGGWSSSKKR PRLGDLGGGS 
RDLSPEPAPD EGPRRDGDPA PKRLASLNAA AFLKLSQERE LPLRLPRAHA EVDGRSTEPP 
APKAPRPKWP KVNGKNYPKA WQGASSGEAA GPPGWQGCPD EPWPSATPCG PSVQPSHQPL 
SKALESPLGL RPHLPLLMGG QAALKPEPGR PGEESPAPKQ ELHQPSFPTP QLSPLPMPGN 
PADYNGLCVG PELTALGSFY LYCGQEGLQC GGYSPCPMLP EGKLSPVAAP HEEGLLLAPS 
SVPSGTPFQH PPWGSSRYCS SEDTGVNGYS ICGVLPLSVT HAGTTCGGCP YKMPFAAEGC 
RSLGQLEFPL PEAGHPASPA HPLLGCPVPS VPPAAEPVPH LQTPTSEPQT VARACPQSAK 
PPSGSKSGLR TGSSCRHTAR SKAARRPSHP KQPRVQRPRP RRRRRRRTNG WVPVGAACEK 
AVYVLDEPEP AIRKSYQAVE RHGETIRVRD TVLLKSGPRK TSTPYVAKIS ALWENPESGE 
LMMSLLWYYR PEHLQGGRSP SMHEPLQNEV FASRHQDQNS VACIEEKCYV LTFAEYCRFC 
AMAKRRGEGL PSRKTALVPP SADYSTPPHR TVPEDTDPEL VFLCRHVYDF RHGRILKNPQ