Details for: LRRIQ3

Gene ID: 127255

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: LRRIQ3

Ensembl ID: ENSG00000162620

Description: leucine rich repeats and IQ motif containing 3

Cell Significance Landscape

Associated with

Significant Cells

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

  • multi-ciliated epithelial cell CL0005012
    CSI 7.53
    rCSI 7.52%
    PRS 90
  • adipocyte CL0000136
    CSI 4.04
    rCSI 5.18%
    PRS 88.4
  • CD8-positive, alpha-beta memory T cell, CD45RO-positive CL0001203
    CSI 3.58
    rCSI 4.33%
    PRS 77.58
  • ciliated epithelial cell CL0000067
    CSI 3.56
    rCSI 3.13%
    PRS 87.85
  • lung ciliated cell CL1000271
    CSI 3.47
    rCSI 4.02%
    PRS 90.45
  • ependymal cell CL0000065
    CSI 2.52
    rCSI 5.12%
    PRS 80.43
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 2.22
    rCSI 5.06%
    PRS 88.58
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.15
    rCSI 2.67%
    PRS 83.62
  • retinal ganglion cell CL0000740
    CSI 1.67
    rCSI 3.68%
    PRS 87.05
  • basal cell of epidermis CL0002187
    CSI 1.57
    rCSI 2.79%
    PRS 69.99
  • suprabasal keratinocyte CL4033013
    CSI 0.85
    rCSI 1.38%
    PRS 70.32
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 0.35
    rCSI 2.06%
    PRS 86.13
  • indirect pathway medium spiny neuron CL4023029
    CSI 0.3
    rCSI 7.21%
    PRS 83.42

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 [LRRIQ3](/details-gene/127255) is a protein-coding gene located on chromosome 1p31.1 that encodes the Leucine-rich repeat and IQ domain-containing protein 3. Initial characterization of this gene was supported by large-scale cDNA sequencing projects ([Link](https://doi.org/10.1038/ng1285), [Link](https://doi.org/10.1101/gr.2596504)). Functionally, it is broadly annotated with a role in [protein binding](/details-ontology/GO0005515) ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)). **Overall**, expression data reveals that [LRRIQ3](/details-gene/127255) is most significantly and specifically expressed in ciliated cell types, particularly [multi-ciliated epithelial cell](/details-cell/CL0005012), suggesting a primary role in the structure or function of cilia. ## Cellular Roles and Expression Landscape The expression profile of [LRRIQ3](/details-gene/127255) strongly implicates it in the biology of motile cilia. The gene shows its highest significance score in [multi-ciliated epithelial cell](/details-cell/CL0005012) (CSI: 7.53), a pattern that is consistently observed across related cell types including [ciliated epithelial cell](/details-cell/CL0000067), [lung ciliated cell](/details-cell/CL1000271), and [ciliated columnar cell of tracheobronchial tree](/details-cell/CL0002145). This suggests a conserved and critical function in the epithelial linings of tissues such as the respiratory tract and brain ventricles, where ciliary movement is essential. Beyond its role in ciliated cells, [LRRIQ3](/details-gene/127255) also demonstrates significant expression in several other distinct cell lineages, hinting at additional functions. It is a notable marker in [adipocyte](/details-cell/CL0000136) (CSI: 4.04) and a specific immune subset, [CD8-positive, alpha-beta memory T cell, CD45RO-positive](/details-cell/CL0001203) (CSI: 3.58). Furthermore, significant expression is observed in various neuronal and glial cell types, including [ependymal cell](/details-cell/CL0000065), [pvalb GABAergic cortical interneuron](/details-cell/CL4023018), and [retinal ganglion cell](/details-cell/CL0000740). This diverse expression pattern suggests that [LRRIQ3](/details-gene/127255) may be a multi-functional protein whose role is adapted to the specific protein interaction networks of different cell types. ## Pathways and Molecular Function The primary molecular function currently annotated for [LRRIQ3](/details-gene/127255) is [protein binding](/details-ontology/GO0005515) ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)). The protein architecture, featuring both leucine-rich repeat (LRR) domains and an IQ motif, supports this role. LRR domains are well-known protein-protein interaction modules, while IQ motifs are typically involved in binding calmodulin and related proteins, often linking calcium signaling to cytoskeletal dynamics. This combination is consistent with a role as a scaffolding or adaptor protein. In the context of its high expression in ciliated cells, [LRRIQ3](/details-gene/127255) may participate in the assembly, stability, or regulation of the ciliary axoneme or basal body structures. The specific binding partners and downstream pathways regulated by [LRRIQ3](/details-gene/127255) in these cellular contexts remain to be elucidated. The initial annotation of human chromosome 1 provided foundational data for this gene ([Link](https://doi.org/10.1038/nature04727)). ## Research Directions The specific and high expression of [LRRIQ3](/details-gene/127255) in ciliated cells provides a strong basis for further investigation into its role in human health and disease, particularly in the context of disorders known as ciliopathies. **Proposed Hypotheses:** 1. **[LRRIQ3](/details-gene/127255) is an essential structural or regulatory component for ciliogenesis and/or motile ciliary function.** Given its LRR and IQ domains, it may act as a scaffold to assemble components of the ciliary machinery or as a calcium-sensitive regulator of ciliary beating. 2. **In [adipocyte](/details-cell/CL0000136), [LRRIQ3](/details-gene/127255) is involved in metabolic regulation or adipocyte differentiation.** Its protein-binding function could be co-opted in these cells to mediate signaling pathways related to lipid storage or insulin sensitivity. **Key Experimental Approach:** To test the hypothesis that [LRRIQ3](/details-gene/127255) is critical for ciliary function, a robust in-vitro model could be employed. Specifically, CRISPR-Cas9 could be used to knock out [LRRIQ3](/details-gene/127255) in human bronchial epithelial cells (HBECs) grown in an air-liquid interface (ALI) culture, which promotes differentiation into a mucociliary epithelium. The functional consequences could be assessed by comparing knockout and wild-type cultures for: (i) defects in ciliogenesis via immunofluorescence staining for ciliary markers like acetylated tubulin, (ii) changes in ciliary length and density using scanning electron microscopy, and (iii) impairment of ciliary motility by measuring ciliary beat frequency with high-speed video microscopy. **Therapeutic Potential:** Based on the current data, [LRRIQ3](/details-gene/127255) is more likely to be relevant to monogenic disorders than to be a target for modulation in complex diseases like cancer. If loss-of-function mutations in [LRRIQ3](/details-gene/127255) are identified as a cause of a primary ciliary dyskinesia (PCD)-like ciliopathy, it could become a candidate for gene replacement therapies. Its high specificity for ciliated cells would be advantageous for targeted delivery. Conversely, it is not a primary candidate for therapeutic inhibition, as its role appears to be homeostatic.

Genular Protein ID: 613409420

Symbol: LRIQ3_HUMAN

Name: Leucine-rich repeat and IQ domain-containing protein 3

UniProtKB Accession Codes:

A6PVS8 A6PVS9 Q6P5P7 Q6ZMV4 Q8WUE0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 4 ExpressionAtlas 1 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 624
  • Mass: 73675
  • Checksum: 0FEE3367EB3FB37F
  • Sequence:
    • MFHGTVTEEL TSHEEWSHYN ENIREGQKDF VFVKFNGLHL KSMENLQSCI SLRVCIFSNN 
FITDIHPLQS CIKLIKLDLH GNQIKSLPNT KFWNGLKNLK LLYLHDNGFA KLKNICVLSA 
CPTLIALTMF DCPVSLKKGY RHVLVNSIWP LKALDHHVIS DEEIIQNWHL PERFKACNHR 
LFFNFCPALR KGTTYEEEIN NIKHITSKIN AILAHNSPVL IVQRWIRGFL VRKNLSPVFF 
HKKKQQEKII RGYEAKWIYI TKGYEDKLLK DLFFKPETNI KGKLAYWKHN IYYPVDLKNS 
SEHRKHVSSI LCELKPKDLG MKSKTSRHLI QKGQESEDEI VDEKLDTSFR ISVFKLPIYT 
SGSLKNNAVL REKKQHFFPA YPQPIYTTHP KPIIKKDIRL ERSMKEFFAP QRAGMKLRTF 
SDIDKYYTEQ KKQEYHKEKV RVVAMAQVAR ERVRVAVNEH LNQKKYATQK LIEENKETIQ 
NSLRQVWQNR FNYLEKARER KALFLKEKSQ KASERLLVQN LNNERTLLTR GLLKIDRLEK 
NEAVLKEKSL IVKQKLKAEK YRKNLLKEMK KVRSQEIYKR HCEEKFVMDM IAFEKACERL 
QDAKTKVAIV KTNLDFKVPN GLIK