Details for: ATP5MGL

Gene ID: 267020

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: ATP5MGL

Ensembl ID: ENSG00000249222

Description: ATP synthase membrane subunit g like

Selected Context(s): 

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • epithelial cell of proximal tubule CL0002306
    CSI 2.65
    rCSI 6.48%
    PRS 98.83

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.
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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 [ATP5MGL](/details-gene/267020), or ATP synthase membrane subunit g like, is a protein-coding gene located on chromosome 22q13.2. This gene encodes a component of the F1Fo ATP synthase complex, which is fundamental to cellular energy production. Functionally, it is involved in the process of [proton motive force-driven atp synthesis](/details-cell/GO:0015986) and is localized to the [mitochondrial inner membrane](/details-cell/GO:0005743). Expression data from the **Overall** context indicates that [ATP5MGL](/details-gene/267020) is particularly significant in cells with high metabolic activity, exemplified by its high expression score in the [epithelial cell of proximal tubule](/details-cell/CL0002306) in the kidney. ## Cellular Roles and Expression Landscape The expression profile of [ATP5MGL](/details-gene/267020) underscores its critical role in cellular bioenergetics. **Overall**, the gene shows its highest significance in the [epithelial cell of proximal tubule](/details-cell/CL0002306) (CSI: 2.65). These cells are responsible for reabsorbing the majority of solutes and water from the glomerular filtrate, an energetically demanding process that requires vast amounts of ATP for active transport. The high significance of [ATP5MGL](/details-gene/267020) in this cell type is therefore consistent with its function as a subunit of the primary ATP-generating machinery in the cell. The available data focuses on its top expressing cell, and a broader analysis across a wide range of cell types would be needed to fully define its specificity. However, its prominent role in renal tubule cells suggests it is a key workhorse gene in tissues with high and constant energy demands. ## Pathways and Molecular Function The functional annotations for [ATP5MGL](/details-gene/267020) firmly place it within the core process of oxidative phosphorylation. Its molecular function is defined as contributing to [proton-transporting atp synthase activity, rotational mechanism](/details-cell/GO:0046933). This activity facilitates the biological process of [proton transmembrane transport](/details-cell/GO:1902600) across the mitochondrial inner membrane, harnessing the resulting electrochemical gradient for [proton motive force-driven atp synthesis](/details-cell/GO:0015986). As expected for a component of this machinery, its primary cellular location is the [mitochondrion](/details-cell/GO:0005739), specifically within the [mitochondrial inner membrane](/details-cell/GO:0005743). The identification of this gene was supported by the Mammalian Gene Collection project ([Link](https://doi.org/10.1101/gr.2596504)). ## Research Directions The specific high expression of [ATP5MGL](/details-gene/267020) in renal proximal tubule cells, which are highly vulnerable to metabolic and ischemic stress, points toward several avenues for future research. ### Proposed Hypotheses 1. **Role in Kidney Disease:** Given its high significance in [epithelial cells of the proximal tubule](/details-cell/CL0002306), it is hypothesized that genetic variation or acquired dysregulation of [ATP5MGL](/details-gene/267020) may impair the bioenergetic capacity of these cells, rendering them more susceptible to damage in conditions like acute kidney injury (AKI) or diabetic nephropathy. 2. **Metabolic Reprogramming:** The expression of [ATP5MGL](/details-gene/267020) may be dynamically regulated in response to systemic metabolic shifts. It is hypothesized that in states of metabolic disease, such as diabetes, alterations in [ATP5MGL](/details-gene/267020) expression could be a feature of the metabolic reprogramming that occurs in proximal tubules, potentially contributing to the pathophysiology of diabetic kidney disease. ### Key Experiments To test the hypothesis that [ATP5MGL](/details-gene/267020) is critical for proximal tubule integrity, a key experiment would be to generate a conditional knockout mouse model with specific deletion of `Atp5mgl` in proximal tubule epithelial cells. These mice could be subjected to an ischemia-reperfusion model of AKI. The impact of [ATP5MGL](/details-gene/267020) loss on cellular ATP levels, mitochondrial function (via Seahorse assays), degree of tubular injury, and overall renal function could then be quantified to directly assess its role in protecting against renal stress. ### Therapeutic Potential As an integral and ubiquitous component of the essential ATP synthase complex, [ATP5MGL](/details-gene/267020) is unlikely to be a suitable target for therapeutic inhibition due to the high probability of inducing severe, systemic cytotoxicity. However, if specific loss-of-function mutations in [ATP5MGL](/details-gene/267020) were identified as a monogenic cause of a renal tubulopathy or mitochondrial disease, therapeutic strategies could focus on gene replacement or other approaches aimed at restoring its function in the affected cell types.

Genular Protein ID: 3010851699

Symbol: AT5L2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q7Z4Y8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ComplexPortal 1 DMDM 1 DNASU 1 EMBL 3 Ensembl 1 GO 6 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SMR 1 STRING 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

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

Sequence Information:

  • Length: 100
  • Mass: 11037
  • Checksum: 660C6E40987172D6
  • Sequence:
    • MAPFVRNLVE KTPALVNAAV TYLKPRLAAF WYYTTVELVP PTPAEIPRAI QSLKKIVSSA 
QTGSFKQLTV KEALLNGLVA TEVSTWFYVR EITGKRGIIG