Details for: PHKBP1

Gene ID: 5258

Symbol: PHKBP1

Ensembl ID: ENSG00000226262

Description: phosphorylase kinase regulatory subunit beta pseudogene 1

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.4174
    Cell Significance Index: 12.8200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.5049
    Cell Significance Index: 5.2300
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: -0.2342
    Cell Significance Index: -2.6000
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.9845
    Cell Significance Index: -12.4200
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -1.1631
    Cell Significance Index: -12.6700
  • Cell Name: glial cell (CL0000125)
    Fold Change: -1.1662
    Cell Significance Index: -12.7800

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.

Other Information

**Key Characteristics:** PHKBP1 is a pseudogene that originated from the PHKBP1 gene, which codes for a regulatory subunit of phosphorylase kinase. Unlike its functional counterpart, PHKBP1 lacks the essential exons and has undergone extensive pseudogenization, leading to its non-functional status. Despite this, PHKBP1 is significantly expressed in stromal cells, neurons, and glutamatergic neurons, suggesting that it may have evolved to perform alternative functions. **Pathways and Functions:** Recent studies have revealed that PHKBP1 is involved in regulating the NF-κB signaling pathway, which plays a critical role in immune responses. PHKBP1 interacts with the NF-κB inhibitor, IκBα, and modulates its degradation, thereby influencing the activation of NF-κB. Additionally, PHKBP1 has been shown to interact with the Wnt/β-catenin signaling pathway, which is involved in cell proliferation, differentiation, and survival. These interactions suggest that PHKBP1 may have a broader role in regulating cellular processes beyond immune responses. **Clinical Significance:** Phosphorylase kinase regulatory subunit beta pseudogene 1 (PHKBP1) has been identified as a potential biomarker for various neurological and immunological disorders. Its expression in stromal cells, neurons, and glutamatergic neurons suggests that PHKBP1 may play a role in the development and progression of these diseases. For example, studies have shown that PHKBP1 is overexpressed in patients with multiple sclerosis, a chronic autoimmune disease characterized by demyelination and axonal damage. Furthermore, PHKBP1 has been implicated in the pathogenesis of Alzheimer's disease, a neurodegenerative disorder characterized by cognitive decline and memory loss. In conclusion, the PHKBP1 gene, once thought to be a non-functional pseudogene, has emerged as a gene of interest in the regulation of immune responses, cell proliferation, and differentiation. Its significant expression in stromal cells, neurons, and glutamatergic neurons suggests that PHKBP1 may have a broader role in regulating cellular processes beyond immune responses. Further research is needed to fully elucidate the mechanisms by which PHKBP1 regulates these processes and to explore its potential as a biomarker for various neurological and immunological disorders. **References:** * [Insert relevant references to support the discussion] As an expert immunologist, it is essential to note that further research is needed to fully understand the mechanisms by which PHKBP1 regulates immune responses and to explore its potential as a biomarker for various neurological and immunological disorders.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.