Details for: RTL5

Gene ID: 340526

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: RTL5

Ensembl ID: ENSG00000242732

Description: retrotransposon Gag like 5

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Significant Cells

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

  • bronchus fibroblast of lung CL2000093
    CSI 3.79
    rCSI 3.08%
    PRS 99.76
  • vascular associated smooth muscle cell CL0000359
    CSI 3.01
    rCSI 9.76%
    PRS 99.78
  • type B pancreatic cell CL0000169
    CSI 2.07
    rCSI 4.59%
    PRS 99.5
  • pancreatic epsilon cell CL0005019
    CSI 1.2
    rCSI 5.6%
    PRS 99.75

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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  • 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 [RTL5](/details-gene/340526), or Retrotransposon Gag Like 5, is a protein-coding gene located on the X chromosome ([Link](https://doi.org/10.1038/nature03440)). It belongs to a family of neofunctionalized Ty3/gypsy retrotransposon genes, suggesting it is a domesticated viral element that has been co-opted for a host function in mammalian genomes ([Link](https://doi.org/10.1159/000084963)). Expression data indicates that [RTL5](/details-gene/340526) has a distinct cellular profile, with notable significance in mesenchymal cell types, including fibroblasts and smooth muscle cells, as well as in specific endocrine cells of the pancreas. Its clinical relevance is cataloged under OMIM entry [301135](https://omim.org/entry/301135), though its precise role in health and disease remains to be fully elucidated. ## Cellular Roles and Expression Landscape The expression pattern of [RTL5](/details-gene/340526) suggests a specialized function in both structural and endocrine cell types. **Overall**, the gene shows the highest significance in mesenchymal cells, including `[bronchus fibroblast of lung](/details-cell/CL2000093)` (CSI: 3.79) and `[vascular associated smooth muscle cell](/details-cell/CL0000359)` (CSI: 3.01). This strong expression in cells responsible for producing extracellular matrix and regulating tissue mechanics points toward a potential role in tissue structure, integrity, or cellular contractility. Intriguingly, [RTL5](/details-gene/340526) is also significantly expressed in specific endocrine cell populations within the pancreas. These include `[type B pancreatic cell](/details-cell/CL0000169)` (CSI: 2.07), which are responsible for insulin production, and `[pancreatic epsilon cell](/details-cell/CL0005019)` (CSI: 1.20), which produce ghrelin. This distinct expression pattern in hormone-secreting cells suggests that [RTL5](/details-gene/340526) may have been co-opted to play a role in the synthesis, packaging, or regulated secretion of metabolic hormones. The dual-niche expression in both structural and endocrine cells highlights a potentially multifaceted, though currently uncharacterized, biological function. ## Pathways and Molecular Function The precise molecular function and pathway involvement of [RTL5](/details-gene/340526) are not yet well-characterized in public databases. However, its classification as a retrotransposon-derived gene provides important clues to its potential mechanism of action ([Link](https://doi.org/10.1159/000084963)). The "Gag-like" designation suggests its protein structure may be related to the retroviral Gag polyprotein, which is fundamentally involved in forming the viral capsid and coordinating the assembly of viral particles. In its domesticated, host-functional form, the Gag-like domain of [RTL5](/details-gene/340526) may have been repurposed to facilitate the assembly of protein complexes, mediate protein-protein interactions, or participate in vesicle formation and intracellular trafficking. This ancestral function would be consistent with a role in either organizing the cytoskeletal or extracellular matrix architecture in fibroblasts and smooth muscle cells or in managing the complex process of hormone granule packaging and secretion in pancreatic endocrine cells. ## Research Directions The unique expression profile and retroviral ancestry of [RTL5](/details-gene/340526) open several avenues for future research. The lack of data comparing its role across different biological contexts (e.g., healthy vs. disease) makes functional characterization a primary goal. **Proposed Hypotheses:** 1. In mesenchymal cells like `[bronchus fibroblast of lung](/details-cell/CL2000093)`, [RTL5](/details-gene/340526) functions as a structural or signaling scaffold. Its Gag-like domain may mediate protein-protein interactions critical for the organization of the extracellular matrix or for cellular responses to mechanical stress. 2. In `[type B pancreatic cell](/details-cell/CL0000169)`, [RTL5](/details-gene/340526) plays a specialized role in the insulin secretory pathway. It may be involved in the formation, transport, or exocytosis of insulin-containing granules, repurposing its ancestral, virion-assembly function for hormone trafficking. **Experimental Approach:** To test the second hypothesis regarding its role in pancreatic beta cells, a targeted functional genomics study could be employed. Using a human pancreatic beta cell line (e.g., EndoC-βH1), CRISPR-Cas9-mediated knockout of [RTL5](/details-gene/340526) could be performed. The functional consequences would be assessed by comparing knockout cells to wild-type controls, specifically measuring changes in insulin granule morphology via electron microscopy, tracking granule movement with live-cell imaging, and quantifying insulin secretion in response to glucose stimulation using a GSIS (glucose-stimulated insulin secretion) assay. **Therapeutic Potential:** The therapeutic potential of [RTL5](/details-gene/340526) is currently speculative due to its poorly understood function and lack of a clear association with a specific disease. However, if it is proven to be a critical component of the insulin secretion machinery in beta cells, its dysregulation could be implicated in metabolic disorders such as type 2 diabetes. In such a scenario, it might represent a novel target for therapies aimed at enhancing or restoring beta cell function. Given its expression in other tissues like fibroblasts and smooth muscle, any therapeutic strategy targeting [RTL5](/details-gene/340526) would need to be highly specific to pancreatic islets to avoid potential off-target effects related to tissue structure or vascular function.

Genular Protein ID: 3387629002

Symbol: RTL5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5HYW3 A7E2W7 Q8NCM4 Q9NPX1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 EMBL 4 Ensembl 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 2 KEGG 1 MANE-Select 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 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 neXtProt 1

Citations:

PubMed ID: 12056414

Title: Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method.

PubMed ID: 12056414

DOI: 10.1093/dnares/9.2.47

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16093683

Title: A family of neofunctionalized Ty3/gypsy retrotransposon genes in mammalian genomes.

PubMed ID: 16093683

DOI: 10.1159/000084963

Sequence Information:

  • Length: 569
  • Mass: 64711
  • Checksum: EF48B4A215DC99DE
  • Sequence:
    • MSEASGNLNS LRMANVALRE ELNALRGENA NLGLQLGRAL AEVNSLRGNV SSYIRWPVPI 
VPVLAEENLE FALSEIEVIP GGELPFLCRP PPRAEPDCIS DDLLINVIQD RSTPDGPADP 
PLLPIPPPPA LPPPASKEPP PQPPLAPLER PEIEPFSGDP VYLAEFLMQL ETFIADHEVH 
FPGGAERVAF LISFFTGEAK DWAISVTQEG SPLHANFPRF LDEIRKEFCG PIPPRVAKKA 
IRKLKQGHCT LGSYADAFQF LAQFLSWDDC RLQNQFLKGL SEFFRKELLW STEMADLDEL 
ILECVEIERK VRVPKPIPLP GVRNIIFPFA PSPNEEESED EEYYSEDEDQ EARRHRLHSK 
DQRKRMRAFQ QEMKEKEEEE MKKEEEMKKK EEKEEEEEEE MKQKEEEEEI RNKNEEEGES 
KDEEDEDEDG GQKPEGEPQQ DPGTEETYGE VEEEPLDEAQ DDDLDELMEM EPTFVHASSQ 
TSGPTSGYHA ENFLGASPPI IQPSRRRNQN RVPLLEGLPG TNSPFYSSPQ LIRRTGRLGQ 
RQVRRRPPVL FRLTPRQGGH RAARGRIRV