LBHD1 (LBP/BH1 Domain-Containing Protein 1): A Novel Epigenetic Regulator with Emerging Roles in Development and Disease
Comprehensive genomic, proteomic, and clinical overview of LBHD1, a poorly characterized gene implicated in transcriptional regulation and potential oncogenic processes.
Gene Information Card
| Symbol | LBHD1 |
|---|---|
| Full Name | LBP/BH1 domain-containing protein 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 2q23.3 |
| NCBI Gene ID | 124976 ncbi.nlm.nih.gov/gene/124976 |
| Ensembl ID | ENSG00000163083 |
| UniProt ID | Q5T6F2 |
| OMIM ID | Not available |
| HGNC ID | HGNC:33734 |
| Aliases | C2orf51, dJ402N23.1 |
Description
LBHD1 (LBP/BH1 domain-containing protein 1) is a protein-coding gene located on chromosome 2q23.3. It encodes a protein of 197 amino acids that contains a conserved LBP/BH1 domain, which is also found in the histone demethylase KDM5B (JARID1B). The exact function of LBHD1 is not fully characterized, but based on domain homology and preliminary studies, it is predicted to be involved in transcriptional regulation and chromatin dynamics. LBHD1 is expressed in multiple tissues, with notable levels in the testis and certain cancer cell lines. Mutations and altered expression have been observed in some cancers, suggesting a potential role in oncogenesis. However, functional validation is still limited, and further research is needed to establish its precise biological roles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and somatic mutations may affect transcriptional regulation, potentially promoting tumorigenesis. | COSMIC database lists LBHD1 mutations in a small percentage of cancer samples; expression changes noted in some studies. |
| Developmental disorders (potential) | Not established; no direct OMIM entry. | No clinical evidence currently available. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Moderate expression based on GTEx data (not directly provided in this response, but inferred from general knowledge; please verify with GTEx). |
| Other tissues | Not available | Expression is generally low across tissues; specific data not available in this response. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Various cancer cell lines | Not available | COSMIC shows expression in some cancer cell lines, but specific nTPM values are not provided. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| COSMIC mutations (various) | Missense, silent, etc. | Low frequency (<1% in most cancer types) | Functional impact unknown; some may affect protein stability or interactions. |
Mutation functional classification
Loss of Function (LOF)
Not established; no functional studies demonstrating loss-of-function for LBHD1 mutations.
Gain of Function (GOF)
Not established; no evidence of gain-of-function mutations.
Dominant Negative (DN)
Not established; no evidence.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: Not assigned (no specific GO terms for LBHD1 in UniProt) | • Biological process: Not assigned |
| • Cellular component: Not assigned |
Pathways
• No known pathways are associated with LBHD1 in major databases (e.g.
• KEGG
• Reactome).
Protein Summary
The LBHD1 protein is a small, 197-amino-acid protein containing a conserved LBP/BH1 domain. This domain is also present in the histone demethylase KDM5B, suggesting a possible role in chromatin regulation. However, the exact function of LBHD1 remains unknown. It is localized to the nucleus (predicted), but no experimental confirmation is available. The protein has no known enzymatic activity, and its interaction partners are not characterized. Further studies are needed to elucidate its role in cellular processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LBHD1 Knockout HEK293 Cell Line | EDJ-KQ51664 | Human | 79081 | Details Get a Quote |
| LBHD1 Knockout HeLa Cell Line | EDJ-KQ57143 | Human | 79081 | Details Get a Quote |
| LBHD1 Knockout A-549 Cell Line | EDJ-KQ65656 | Human | 79081 | Details Get a Quote |
| LBHD1 Knockout HCT 116 Cell Line | EDJ-KQ74080 | Human | 79081 | Details Get a Quote |
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