Details for: ROPN1L

Gene ID: 83853

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: ROPN1L

Ensembl ID: ENSG00000145491

Description: rhophilin associated tail protein 1 like

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • ciliated epithelial cell CL0000067
    CSI 18.53
    rCSI 16.29%
    PRS 99.32
  • ependymal cell CL0000065
    CSI 13.9
    rCSI 28.21%
    PRS 98.35
  • multi-ciliated epithelial cell CL0005012
    CSI 12.92
    rCSI 12.9%
    PRS 99.51
  • choroid plexus epithelial cell CL0000706
    CSI 10.74
    rCSI 17.59%
    PRS 99.42
  • lung ciliated cell CL1000271
    CSI 9.59
    rCSI 11.09%
    PRS 99.57
  • ciliated cell CL0000064
    CSI 9.45
    rCSI 15.32%
    PRS 99.28
  • squamous epithelial cell CL0000076
    CSI 6.55
    rCSI 15.55%
    PRS 99.06
  • nasal mucosa goblet cell CL0002480
    CSI 5.92
    rCSI 6.87%
    PRS 99.53
  • deuterosomal cell CL4033044
    CSI 5.4
    rCSI 18.26%
    PRS 99.29
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 4.78
    rCSI 10.9%
    PRS 99.37

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):
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    • High
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    • 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 [ROPN1L](/details-gene/83853) (Rhophilin Associated Tail Protein 1 Like) is a protein-coding gene located on chromosome 5p15.2. Functionally, [ROPN1L](/details-gene/83853) is strongly associated with the structure and function of motile cilia and flagella. Expression data reveals its profound specificity for ciliated cell types, including [ciliated epithelial cell](/details-cell/CL0000067) and [ependymal cell](/details-cell/CL0000065), where it is a top-ranking marker. Its involvement in biological processes such as '[Epithelial cilium movement involved in extracellular fluid movement](/details-go/GO:0003351)' and '[Flagellated sperm motility](/details-go/GO:0030317)' suggests it plays a crucial role in cellular motility mechanisms across various tissues. ## Cellular Roles and Expression Landscape The expression profile of [ROPN1L](/details-gene/83853) demonstrates a highly specialized role as a key component of ciliated cells. **Overall**, the gene exhibits its highest significance in a range of cells characterized by the presence of motile cilia. It is the most significant marker in [ciliated epithelial cell](/details-cell/CL0000067) (CSI: 18.53) and shows similarly high significance in related cell types such as [ependymal cell](/details-cell/CL0000065) (CSI: 13.90), which line the cerebral ventricles, and [lung ciliated cell](/details-cell/CL1000271) (CSI: 9.59). This consistent, high-level expression across anatomically diverse ciliated cells, from the brain ([choroid plexus epithelial cell](/details-cell/CL0000706)) to the respiratory tract ([ciliated columnar cell of tracheobronchial tree](/details-cell/CL0002145)), strongly indicates a fundamental role in ciliary biology rather than a tissue-specific function. Its expression in [deuterosomal cell](/details-cell/CL4033044), a progenitor for multiciliated cells, further suggests a role in the early stages of ciliogenesis. ## Pathways and Molecular Function Functional annotations for [ROPN1L](/details-gene/83853) are highly consistent with its observed expression pattern in ciliated cells. The gene product localizes to the '[Cilium](/details-go/GO:0005929)', specifically the '[Motile cilium](/details-go/GO:0031514)' and the '[Radial spoke](/details-go/GO:0001534)', which are critical components of the ciliary axoneme that regulate dynein motor activity. This structural role directly supports its involvement in the biological process of '[Epithelial cilium movement involved in extracellular fluid movement](/details-go/GO:0003351)'. Furthermore, annotations related to '[Flagellated sperm motility](/details-go/GO:0030317)' and '[Sperm capacitation](/details-go/GO:0048240)' suggest a parallel function in the sperm flagellum, which is a modified motile cilium. This is supported by early research identifying proteins that interact with A-kinase anchoring proteins in sperm, a mechanism crucial for motility regulation [Link](https://doi.org/10.1074/jbc.m011252200). The molecular function of '[Protein binding](/details-go/GO:0005515)' is consistent with its role as a structural component within the multi-protein axonemal complex. ## Research Directions The specific expression and function of [ROPN1L](/details-gene/83853) in motile cilia position it as a candidate gene for human ciliopathies, a class of genetic disorders characterized by dysfunctional cilia. **Proposed Hypotheses:** 1. Loss-of-function mutations in [ROPN1L](/details-gene/83853) are a cause of Primary Ciliary Dyskinesia (PCD), a motile ciliopathy characterized by chronic respiratory infections, situs inversus, and infertility. This is based on its localization to the radial spoke, a structure whose components are known to be mutated in PCD, such as in the case of `GAS8` [Link](https://doi.org/10.1002/humu.23005). 2. [ROPN1L](/details-gene/83853) is essential for male fertility, and specific variants in the gene may be associated with cases of asthenozoospermia (reduced sperm motility) by disrupting the structural integrity or regulatory signaling within the sperm flagellum. **Experimental Approach to Test Hypothesis 1:** To investigate the role of [ROPN1L](/details-gene/83853) in PCD, a multi-pronged approach could be employed. First, targeted sequencing of the [ROPN1L](/details-gene/83853) gene should be performed in a cohort of PCD patients with no known genetic diagnosis. If pathogenic variants are identified, functional validation could be achieved by generating a CRISPR/Cas9 knockout of [ROPN1L](/details-gene/83853) in human bronchial epithelial cells grown at an air-liquid interface to induce ciliation. The resulting cellular phenotype would be assessed using high-speed video microscopy to measure ciliary beat frequency and waveform, and transmission electron microscopy to examine for ultrastructural defects in the ciliary axoneme, particularly the radial spokes. **Therapeutic Potential:** As [ROPN1L](/details-gene/83853) is implicated in a potential monogenic disorder resulting from loss-of-function, it is not a conventional target for therapeutic inhibition. Instead, its high specificity for ciliated cells makes it an attractive candidate for future gene-replacement therapies. A therapeutic strategy would aim to restore a functional copy of the gene, and its limited expression profile would be advantageous in minimizing potential off-target effects in non-ciliated tissues.

Genular Protein ID: 274763096

Symbol: ROP1L_HUMAN

Name: Ropporin-1-like protein

UniProtKB Accession Codes:

Q96C74 D3DTC9 Q9BZX0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 EMDB 1 Ensembl 2 GO 10 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11278869

Title: Identification of sperm-specific proteins that interact with A-kinase anchoring proteins in a manner similar to the type II regulatory subunit of PKA.

PubMed ID: 11278869

DOI: 10.1074/jbc.m011252200

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

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: 27120127

Title: Mutations in GAS8, a gene encoding a nexin-dynein regulatory complex subunit, cause primary ciliary dyskinesia with axonemal disorganization.

PubMed ID: 27120127

DOI: 10.1002/humu.23005

Sequence Information:

  • Length: 230
  • Mass: 26107
  • Checksum: 5692E967769E8D45
  • Sequence:
    • MPLPDTMFCA QQIHIPPELP DILKQFTKAA IRTQPADVLR WSAGYFSALS RGDPLPVKDR 
MEMPTATQKT DTGLTQGLLK VLHKQCHHKR YVELTDLEQK WKNLCLPKEK FKALLQLDPC 
ENKIKWINFL ALGCSMLGGS LNTALKHLCE ILTDDPEGGP ARIPFKTFSY VYRYLARLDS 
DVSPLETESY LASLKENIDA RKNGMIGLSD FFFPKRKLLE SIENSEDVGH