Details for: NPIPA1

Gene ID: 9284

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: NPIPA1

Ensembl ID: ENSG00000183426

Description: nuclear pore complex interacting protein family member A1

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • bronchus fibroblast of lung CL2000093
    CSI 3.35
    rCSI 2.72%
    PRS 98.57
  • multi-ciliated epithelial cell CL0005012
    CSI 3.1
    rCSI 3.09%
    PRS 96.02
  • inhibitory interneuron CL0000498
    CSI 3.02
    rCSI 6.96%
    PRS 95.05
  • ciliated epithelial cell CL0000067
    CSI 2.8
    rCSI 2.46%
    PRS 94.97
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 2.77
    rCSI 9.96%
    PRS 93.7
  • adventitial cell CL0002503
    CSI 2.63
    rCSI 6.27%
    PRS 99.11
  • chondrocyte CL0000138
    CSI 2.43
    rCSI 3.87%
    PRS 96.7
  • lung ciliated cell CL1000271
    CSI 2.38
    rCSI 2.75%
    PRS 96.31
  • ciliated cell CL0000064
    CSI 2.36
    rCSI 3.82%
    PRS 95.32
  • peripheral nervous system neuron CL2000032
    CSI 2.32
    rCSI 3.16%
    PRS 96.09
  • astrocyte of the cerebral cortex CL0002605
    CSI 1.8
    rCSI 4.02%
    PRS 94.76
  • amacrine cell CL0000561
    CSI 1.72
    rCSI 4.98%
    PRS 95.12
  • basal cell of epidermis CL0002187
    CSI 1.64
    rCSI 2.91%
    PRS 82.31
  • glutamatergic neuron CL0000679
    CSI 1.63
    rCSI 3.35%
    PRS 92.5
  • retinal ganglion cell CL0000740
    CSI 1.22
    rCSI 2.7%
    PRS 94.53
  • L6b glutamatergic cortical neuron CL4023038
    CSI 1.08
    rCSI 3.38%
    PRS 95
  • GABAergic neuron CL0000617
    CSI 1.08
    rCSI 3.61%
    PRS 92.15
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 0.52
    rCSI 3.07%
    PRS 94.49

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)

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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 [NPIPA1](/details-gene/9284), or Nuclear Pore Complex Interacting Protein Family Member A1, is a protein-coding gene located on chromosome 16p13.11. Functional annotations suggest a fundamental role in cellular logistics, specifically in [Mrna transport](/details-go/GO:0051028) and [Protein transport](/details-go/GO:0015031) through the [nuclear pore](/details-go/GO:0005643). Consistent with this core housekeeping function, [NPIPA1](/details-gene/9284) shows significant expression across a diverse range of cell types. Its highest significance is observed in structural cells like [bronchus fibroblast of lung](/details-cell/CL2000093), specialized motile cells such as [multi-ciliated epithelial cell](/details-cell/CL0005012), and various neuronal populations including [inhibitory interneuron](/details-cell/CL0000498), indicating its broad importance in maintaining cellular function in metabolically active and structurally complex tissues. ## Cellular Roles and Expression Landscape The expression profile of [NPIPA1](/details-gene/9284) suggests it is a broadly active gene essential for multiple distinct cell lineages, rather than a marker for a single population. **Overall**, the gene's significance is most pronounced in three main categories: * **Structural and Connective Tissues:** The highest CSI score for [NPIPA1](/details-gene/9284) is found in [bronchus fibroblast of lung](/details-cell/CL2000093) (CSI: 3.35), with high scores also noted in [adventitial cell](/details-cell/CL0002503) (CSI: 2.63) and [chondrocyte](/details-cell/CL0000138) (CSI: 2.43). This pattern suggests a critical role in cells responsible for synthesizing and secreting large quantities of extracellular matrix proteins, a process highly dependent on efficient nuclear export of mRNA and proteins. * **Ciliated Epithelium:** A consistent and strong signal is observed across various ciliated cell types, including [multi-ciliated epithelial cell](/details-cell/CL0005012) (CSI: 3.10), [ciliated epithelial cell](/details-cell/CL0000067) (CSI: 2.80), and [lung ciliated cell](/details-cell/CL1000271) (CSI: 2.38). This enrichment implies a key function in the biogenesis or maintenance of cilia, which requires the coordinated transport of numerous structural and regulatory proteins from the nucleus to the cell periphery. * **Nervous System:** [NPIPA1](/details-gene/9284) is highly significant in a wide array of neuronal and glial cells. These include [inhibitory interneuron](/details-cell/CL0000498) (CSI: 3.02), [L5 extratelencephalic projecting glutamatergic cortical neuron](/details-cell/CL4023041) (CSI: 2.77), [peripheral nervous system neuron](/details-cell/CL2000032) (CSI: 2.32), and [astrocyte of the cerebral cortex](/details-cell/CL0002605) (CSI: 1.80). The complex morphology and high transcriptional activity of neurons necessitate robust nucleocytoplasmic transport for processes like synaptic plasticity and axonal maintenance, consistent with a vital role for [NPIPA1](/details-gene/9284) in the central and peripheral nervous systems. The broad expression across these functionally distinct cell types underscores its likely involvement in a fundamental cellular process common to all. ## Pathways and Molecular Function The known functions of [NPIPA1](/details-gene/9284) align directly with its proposed role as a key component of the nuclear transport machinery. Gene Ontology annotations place it at the [nuclear membrane](/details-go/GO:0031965) as part of the [nuclear pore](/details-go/GO:0005643). Its primary biological processes are the regulation of molecular traffic between the nucleus and the cytoplasm, specifically [Mrna transport](/details-go/GO:0051028) and general [Protein transport](/details-go/GO:0015031). This function provides a molecular basis for its observed expression pattern. The high demand for protein synthesis in fibroblasts, the complex assembly of cilia in epithelial cells, and the need for localized protein and RNA translation in the dendrites and axons of neurons all critically depend on efficient and regulated transport through the nuclear pore complex, a process in which [NPIPA1](/details-gene/9284) appears to be a key participant. ## Research Directions The widespread yet distinctively high expression of [NPIPA1](/details-gene/9284) in specific cell types opens several avenues for future investigation. Its fundamental role in nucleocytoplasmic transport suggests that its dysregulation could contribute to a variety of cellular pathologies. **Testable Hypotheses:** 1. Given its strong expression signature in multiple ciliated cell types, [NPIPA1](/details-gene/9284) may be essential for ciliogenesis or ciliary maintenance. Its deficiency could lead to ciliopathies by disrupting the transport of critical ciliary proteins, such as intraflagellar transport (IFT) components, from their site of synthesis to the ciliary base. 2. In the nervous system, [NPIPA1](/details-gene/9284) may regulate the transport of a specific subset of mRNAs or proteins crucial for neuronal identity and function. Its disruption in neurons like the [L5 extratelencephalic projecting glutamatergic cortical neuron](/details-cell/CL4023041) could impair long-range axonal transport and synaptic integrity, potentially contributing to neurodegenerative conditions. **Proposed Experimental Approach:** To test the first hypothesis regarding the role of [NPIPA1](/details-gene/9284) in ciliated cells, an *in vitro* model using primary human bronchial epithelial cells grown at an air-liquid interface (ALI) could be employed. Differentiating these cells in culture generates a polarized epithelium with functional cilia. Using CRISPR-Cas9 or shRNA to specifically knock down [NPIPA1](/details-gene/9284) expression during this differentiation process would allow for direct assessment of its function. The primary readouts would be immunofluorescence microscopy to quantify the number and length of cilia (e.g., by staining for acetylated tubulin) and high-speed video microscopy to measure ciliary beat frequency. Furthermore, subcellular fractionation followed by proteomic analysis (mass spectrometry) could identify specific cargo proteins whose nuclear export is impaired upon [NPIPA1](/details-gene/9284) knockdown. **Therapeutic Potential:** As a component of the essential nuclear pore machinery, [NPIPA1](/details-gene/9284) presents a challenging therapeutic target. Systemic inhibition would likely result in significant off-target toxicity due to its fundamental role in cell viability across many tissues. However, if its dysfunction is linked to specific, localized pathologies such as certain neurodevelopmental disorders or ciliopathies, a gene therapy approach using AAV vectors for targeted delivery to affected tissues (e.g., the central nervous system or airway epithelium) could be a theoretical long-term possibility. Currently, its primary value lies as a subject for basic research to better understand the tissue-specific regulation and function of the nuclear pore complex.