Details for: ARL5C

Gene ID: 390790

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: ARL5C

Ensembl ID: ENSG00000141748

Description: ARF like GTPase 5C

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • retinal bipolar neuron CL0000748
    CSI 2.96
    rCSI 5.55%
    PRS 99.01

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

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  • Node Size: Proportional to Target Cell CSI magnitude
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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 [ARL5C](/details-gene/390790) (ADP-ribosylation factor-like GTPase 5C) is a protein-coding gene located on human chromosome 17q12 [Link](https://doi.org/10.1038/nature04689). As a member of the ARF-like (ARL) family of small GTPases, it is annotated with GTP binding ([GO:0005525](https://www.ebi.ac.uk/QuickGO/term/GO:0005525)) and GTPase activity ([GO:0003924](https://www.ebi.ac.uk/QuickGO/term/GO:0003924)). Functionally, [ARL5C](/details-gene/390790) is implicated in intracellular protein transport ([GO:0006886](https://www.ebi.ac.uk/QuickGO/term/GO:0006886)), particularly vesicle-mediated transport ([GO:0016192](https://www.ebi.ac.uk/QuickGO/term/GO:0016192)) associated with the [trans-Golgi network](/details-cell/GO:0005802). Expression data indicates a highly specific role, with its most significant expression observed in the [retinal bipolar neuron](/details-cell/CL0000748). ## Cellular Roles and Expression Landscape The expression profile of [ARL5C](/details-gene/390790) suggests a specialized function within the central nervous system, specifically within the retina. **Overall**, the gene shows its highest significance as a marker for the [retinal bipolar neuron](/details-cell/CL0000748) (CSI: 2.96). These neurons are crucial intermediaries in the visual pathway, transmitting signals from photoreceptors to ganglion cells. The high expression of [ARL5C](/details-gene/390790) in this cell type implies that its role in regulating protein and vesicle trafficking from the Golgi apparatus is particularly critical for the unique structural and functional demands of retinal signal processing, such as synaptic vesicle cycling or the transport of components for synaptic maintenance. The lack of significant expression in other cell types suggests a tightly regulated and specific role rather than a general housekeeping function in protein transport. ## Pathways and Molecular Function The molecular function of [ARL5C](/details-gene/390790) is centered on its identity as a small GTPase. It participates in fundamental cellular processes by cycling between an active GTP-bound state and an inactive GDP-bound state. This activity is essential for its role in vesicle-mediated transport ([GO:0016192](https://www.ebi.ac.uk/QuickGO/term/GO:0016192)) and intracellular protein transport ([GO:0006886](https://www.ebi.ac.uk/QuickGO/term/GO:0006886)). Specifically, [ARL5C](/details-gene/390790) is associated with the [cytoplasm](/details-cell/GO:0005737) and the [trans-Golgi network](/details-cell/GO:0005802), a key sorting station for proteins and lipids. Its involvement in protein localization to the Golgi membrane ([GO:1903292](https://www.ebi.ac.uk/QuickGO/term/GO:1903292)) indicates it likely regulates the budding of transport vesicles or the recruitment of effector proteins necessary for cargo sorting. This function is consistent with its high expression in [retinal bipolar neuron](/details-cell/CL0000748)s, which require precise and efficient protein trafficking to maintain their complex synaptic structures and respond to visual stimuli. ## Research Directions The highly specific expression of [ARL5C](/details-gene/390790) in [retinal bipolar neuron](/details-cell/CL0000748)s provides a clear path for future investigation into retinal biology and disease. **Proposed Hypotheses:** 1. [ARL5C](/details-gene/390790) is essential for the formation or maintenance of the ribbon synapses characteristic of [retinal bipolar neuron](/details-cell/CL0000748)s by regulating the trafficking of key synaptic vesicle proteins or structural components from the trans-Golgi network. 2. Loss-of-function mutations in [ARL5C](/details-gene/390790) lead to specific retinal dystrophies characterized by impaired signal transmission from photoreceptors, manifesting as conditions like congenital stationary night blindness. **Key Experimental Approach:** To test the hypothesis that [ARL5C](/details-gene/390790) is critical for synaptic integrity in [retinal bipolar neuron](/details-cell/CL0000748)s, a powerful approach would be to generate a conditional knockout mouse model where [ARL5C](/details-gene/390790) is specifically deleted in this cell lineage. Subsequent analysis using electroretinography (ERG) would reveal functional deficits in retinal signal transmission. Furthermore, transmission electron microscopy (TEM) of the retinal layers could be used to directly visualize and quantify structural defects in the ribbon synapses of the bipolar cells, providing a direct link between the molecular function of [ARL5C](/details-gene/390790) and neuronal architecture. **Therapeutic Potential:** Given its intracellular localization and highly specific expression, [ARL5C](/details-gene/390790) is not a conventional drug target for small molecule inhibition. However, if mutations in the gene are linked to inherited retinal diseases, it could become a candidate for gene replacement therapy. An adeno-associated virus (AAV) vector, which has shown success in treating other retinal disorders, could be engineered to deliver a functional copy of [ARL5C](/details-gene/390790) specifically to bipolar cells, potentially restoring normal protein trafficking and neuronal function. This approach would represent a targeted activation or supplementation strategy rather than inhibition.

Genular Protein ID: 762216698

Symbol: ARL5C_HUMAN

Name: Putative ADP-ribosylation factor-like protein 5C

UniProtKB Accession Codes:

A6NH57

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 3 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 1 ExpressionAtlas 1 GO 6 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 4 KEGG 1 MANE-Select 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

Sequence Information:

  • Length: 179
  • Mass: 20591
  • Checksum: 2425EC4C595BEAED
  • Sequence:
    • MGQLIAKLMS IFGNQEHTVI IVGLDNEGKT TILYRFLTNE VVHMCPTIGS NVEEIILPKT 
HFFMWDIVRP EALSFIWNTY YSNTEFIILV IDSTDRDRLL TTREELYKML AHEALQDASV 
LIFANKQDVK DSMRMVEISH FLTLSTIKDH SWHIQGCCAL TREGLPARLQ WMESQAAAN