Details for: LBHD1

Gene ID: 79081

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: LBHD1

Ensembl ID: ENSG00000162194

Description: LBH domain containing 1

Cell Significance Landscape

Associated with

Significant Cells

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

  • plasma cell CL0000786
    CSI 17.66
    rCSI 23.14%
    PRS 97.84
  • myeloid leukocyte CL0000766
    CSI 12.61
    rCSI 11.64%
    PRS 97.77
  • peripheral nervous system neuron CL2000032
    CSI 11.51
    rCSI 15.68%
    PRS 93.72
  • club cell CL0000158
    CSI 8.03
    rCSI 11.76%
    PRS 95.23
  • intestinal epithelial cell CL0002563
    CSI 7.83
    rCSI 8.19%
    PRS 95.63
  • naive T cell CL0000898
    CSI 7.25
    rCSI 5.05%
    PRS 99.59
  • mesenchymal cell CL0008019
    CSI 6.78
    rCSI 17.23%
    PRS 95.34
  • glioblast CL0000030
    CSI 6.02
    rCSI 9.6%
    PRS 92.77
  • goblet cell CL0000160
    CSI 4.95
    rCSI 4.67%
    PRS 95.54
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 4.77
    rCSI 5.51%
    PRS 92.66
  • enterocyte CL0000584
    CSI 4.7
    rCSI 7.58%
    PRS 94.44
  • radial glial cell CL0000681
    CSI 4.53
    rCSI 6.29%
    PRS 96.3
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 4.18
    rCSI 5.36%
    PRS 94.89
  • mature NK T cell CL0000814
    CSI 3.28
    rCSI 4.19%
    PRS 97.76
  • neural progenitor cell CL0011020
    CSI 3.14
    rCSI 13.8%
    PRS 89.65
  • plasmablast CL0000980
    CSI 3.1
    rCSI 2.44%
    PRS 97.13
  • monocyte CL0000576
    CSI 2.93
    rCSI 5.29%
    PRS 97.48
  • skin fibroblast CL0002620
    CSI 2.85
    rCSI 2.46%
    PRS 96.9
  • intestine goblet cell CL0019031
    CSI 2.76
    rCSI 2.45%
    PRS 95.58
  • conventional dendritic cell CL0000990
    CSI 2.4
    rCSI 2%
    PRS 91.31
  • intraepithelial lymphocyte CL0002496
    CSI 1.81
    rCSI 4.93%
    PRS 98.92

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.

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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)

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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 [LBHD1](/details-gene/79081) (LBH Domain Containing 1) is a protein-coding gene located on chromosome 11q12.3. Functionally, [LBHD1](/details-gene/79081) is annotated as a nuclear protein involved in the [positive regulation of dna-templated transcription](/details-cell/GO:0045893) and [protein binding](/details-cell/GO:0005515). Expression data reveals its significant role across a diverse range of cell types, suggesting a broad yet context-specific function as a transcriptional regulator. It is most prominently significant in immune cells, particularly [plasma cell](/details-cell/CL0000786)s and [myeloid leukocyte](/details-cell/CL0000766)s, as well as in the nervous system, with high significance in [peripheral nervous system neuron](/details-cell/CL2000032)s. Its notable presence in various specialized epithelial cells and progenitor cells further underscores its potential involvement in differentiation and cell identity maintenance across multiple lineages. One study has suggested its potential as a tumor antigen in urinary bladder cancer ([Link](https://doi.org/10.1007/s00345-008-0326-4)). ## Cellular Roles and Expression Landscape The **Overall** expression profile of [LBHD1](/details-gene/79081) indicates its importance in several distinct biological systems, pointing towards a role as a fundamental transcriptional co-regulator. * **Immune System:** [LBHD1](/details-gene/79081) shows the highest significance in [plasma cell](/details-cell/CL0000786)s (CSI: 17.66), the terminally differentiated B-cells responsible for antibody production. Its strong signal in [myeloid leukocyte](/details-cell/CL0000766)s (CSI: 12.61), [naive T cell](/details-cell/CL0000898)s, and [mature NK T cell](/details-cell/CL0000814)s suggests a widespread role in both the adaptive and innate immune systems, possibly contributing to cell differentiation, activation, or effector functions. * **Nervous System:** The gene is highly significant in [peripheral nervous system neuron](/details-cell/CL2000032)s (CSI: 11.51), indicating a function in mature neuronal maintenance or signaling. Furthermore, its consistent significance in various progenitor populations, including [radial glial cell](/details-cell/CL0000681), [neuroblast](/details-cell/CL0000338), and [neural progenitor cell](/details-cell/CL0011020), suggests an important role during neurogenesis. * **Epithelial and Secretory Tissues:** [LBHD1](/details-gene/79081) is a significant marker in several specialized epithelial cell types, including [club cell](/details-cell/CL0000158)s in the lung, as well as [intestinal epithelial cell](/details-cell/CL0002563)s, [goblet cell](/details-cell/CL0000160)s, and [enterocyte](/details-cell/CL0000584)s in the gut. This pattern implies a role in maintaining the function of mucosal barriers and secretory cells. * **Cancer and Development:** High significance in [glioblast](/details-cell/CL0000030)s, a type of brain tumor cell, is consistent with literature identifying [LBHD1](/details-gene/79081) as a potential tumor antigen ([Link](https://doi.org/10.1007/s00345-008-0326-4)). Its expression in [mesenchymal cell](/details-cell/CL0008019)s also points to a potential role in development and tissue remodeling. ## Pathways and Molecular Function The known molecular functions of [LBHD1](/details-gene/79081) are consistent with its widespread and cell-type-specific significance. As a protein localized to the [nucleus](/details-cell/GO:0005634), its primary annotated roles are in [protein binding](/details-cell/GO:0005515) and the [positive regulation of dna-templated transcription](/details-cell/GO:0045893). This strongly suggests that [LBHD1](/details-gene/79081) functions as a transcriptional co-activator or a component of a larger chromatin-modifying complex. The diversity of cell types where it is highly expressed implies that it likely interacts with different lineage-specific transcription factors to regulate distinct sets of target genes, thereby contributing to the unique identity and function of each cell type, from antibody secretion in [plasma cell](/details-cell/CL0000786)s to neurotransmission in neurons. ## Research Directions The broad expression profile of [LBHD1](/details-gene/79081) across functionally divergent cell types, combined with its role as a transcriptional regulator, presents several compelling avenues for future research. The gene's connection to cancer, as suggested by its high significance in [glioblast](/details-cell/CL0000030)s and a prior study on bladder cancer ([Link](https://doi.org/10.1007/s00345-008-0326-4)), highlights a potential role in pathology. ### Proposed Hypotheses 1. **Hypothesis 1:** Given its top significance in [plasma cell](/details-cell/CL0000786)s, [LBHD1](/details-gene/79081) may act as a critical co-factor for master regulators of plasma cell differentiation, such as BLIMP-1 or IRF4, to drive the high-level expression of immunoglobulin genes. 2. **Hypothesis 2:** In the nervous system, [LBHD1](/details-gene/79081) may function as a key regulator in the transition from a progenitor state to a terminally differentiated neuron by modulating the expression of genes involved in cell cycle exit and neuronal maturation. 3. **Hypothesis 3:** Dysregulation of [LBHD1](/details-gene/79081) expression in epithelial or glial cells could contribute to tumorigenesis by promoting an undifferentiated, proliferative state, making it a potential proto-oncogene. ### Key Experiment To test Hypothesis 1, a conditional knockout of [LBHD1](/details-gene/79081) in mature B-cells could be generated in a mouse model. Following immunization to induce a T-cell-dependent immune response, researchers could assess the formation of germinal centers and the differentiation of B-cells into [plasma cell](/details-cell/CL0000786)s using flow cytometry. A significant reduction in antigen-specific antibody titers would indicate a crucial role for [LBHD1](/details-gene/79081). Subsequently, RNA-sequencing and chromatin immunoprecipitation sequencing (ChIP-seq) on sorted [plasma cell](/details-cell/CL0000786)s from control and knockout animals could identify the direct gene targets and key transcription factor partners of [LBHD1](/details-gene/79081). ### Therapeutic Potential As a nuclear protein and transcriptional regulator, [LBHD1](/details-gene/79081) represents a challenging therapeutic target for direct inhibition with small molecules. However, if its expression is found to be highly specific to certain cancer types (e.g., glioblastoma, bladder cancer) compared to surrounding healthy tissues, it could be a valuable biomarker. Furthermore, if its oncogenic function relies on specific protein-protein interactions, developing inhibitors that disrupt these interactions could be a viable strategy. Given its potential role in promoting cell proliferation in a cancer context, inhibition rather than activation would be the therapeutic goal.

Genular Protein ID: 1059712875

Symbol: LBHD1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9BQE6 Q96NA4

Database IDs:

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

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 18828023

Title: Immunoscreening of urinary bladder cancer cDNA library and identification of potential tumor antigen.

PubMed ID: 18828023

DOI: 10.1007/s00345-008-0326-4

Sequence Information:

  • Length: 289
  • Mass: 31565
  • Checksum: DAE62DC699180B47
  • Sequence:
    • MALVPGRSKE DGLWTRNSPG SSQHPESPRL PNPLWDRGKI GKVEGHQHIQ VSTSSACVWQ 
LAYPPVWPNL PAVPIQDFSQ KSHLPSIVVE SSEVNEESGD LHLPHEELLL LTDGEEEDAE 
AFFQDQSEEP GWAWSPQDPR SPLRTFNAGL SWGQDQDEED ACWILEDTAC LEATNHCPFW 
DSTGSRVCRS GFVEYSHLLP PNSFEGAEEE AVQTPAGVES GAASEAPGGR GCDRPRADHA 
APPQEAGVQC TCQHYTVREE AQKTPPADPA CPEREDSHGS GSPFKASQD