Details for: CIMIP1

Gene ID: 128602

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: CIMIP1

Ensembl ID: ENSG00000124237

Description: ciliary microtubule inner protein 1

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 32.47
    rCSI 28.56%
    PRS 99.23
  • multi-ciliated epithelial cell CL0005012
    CSI 23.66
    rCSI 23.62%
    PRS 99.47
  • lung ciliated cell CL1000271
    CSI 18.89
    rCSI 21.85%
    PRS 99.51
  • ciliated cell CL0000064
    CSI 13.78
    rCSI 22.33%
    PRS 99.21
  • nasal mucosa goblet cell CL0002480
    CSI 12.7
    rCSI 14.72%
    PRS 99.48
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 10.69
    rCSI 24.36%
    PRS 99.29
  • secretory cell CL0000151
    CSI 10.46
    rCSI 10.92%
    PRS 99.8
  • squamous epithelial cell CL0000076
    CSI 10.18
    rCSI 24.15%
    PRS 98.97
  • deuterosomal cell CL4033044
    CSI 8.98
    rCSI 30.37%
    PRS 99.2
  • ionocyte CL0005006
    CSI 5.55
    rCSI 5.95%
    PRS 99.82
  • pulmonary ionocyte CL0017000
    CSI 5.15
    rCSI 6.27%
    PRS 99.79
  • tracheal goblet cell CL1000329
    CSI 3.83
    rCSI 8.37%
    PRS 99.86
  • basal cell of epithelium of trachea CL1000348
    CSI 0.83
    rCSI 5.84%
    PRS 99.89

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 [CIMIP1](/details-gene/128602), or Ciliary Microtubule Inner Protein 1, is a protein-coding gene located on chromosome 20. As its name implies, its primary function is associated with cilia, specifically as a structural component within the ciliary apparatus ([GO:0005929](https://www.ebi.ac.uk/QuickGO/term/GO:0005929)). This is strongly corroborated by its expression profile, which shows highly specific and significant expression in various ciliated cell types. **Overall**, its expression pattern suggests it is a key protein for the formation and function of cilia, particularly within the epithelial linings of the respiratory system. ## Cellular Roles and Expression Landscape The expression data for [CIMIP1](/details-gene/128602) reveals a highly specialized role as a defining marker for ciliated cell lineages. The gene's significance is highest in `[ciliated epithelial cell](/details-cell/CL0000067)` (CSI: 32.47), `[multi-ciliated epithelial cell](/details-cell/CL0005012)` (CSI: 23.66), and `[lung ciliated cell](/details-cell/CL1000271)` (CSI: 18.89). This consistent, high-level expression across different types of ciliated cells underscores its fundamental role in this organelle. The association with ciliogenesis is further strengthened by its significant expression in `[deuterosomal cell](/details-cell/CL4033044)`, which are precursor cells responsible for the amplification of centrioles required to form multiple cilia. Furthermore, its expression in adjacent epithelial cells of the respiratory tract, such as `[pulmonary ionocyte](/details-cell/CL0017000)` and `[nasal mucosa goblet cell](/details-cell/CL0002480)`, suggests a role within the integrated mucociliary clearance system. The data collectively paints a picture of [CIMIP1](/details-gene/128602) as an indispensable component of motile cilia, crucial for the physiological function of tissues like the tracheobronchial tree. ## Pathways and Molecular Function The functional annotations for [CIMIP1](/details-gene/128602) directly align with its observed cellular expression pattern. It is categorized under the Cellular Component ontology as being located in the `[cilium](/details-cell/CL0000064)` ([GO:0005929](https://www.ebi.ac.uk/QuickGO/term/GO:0005929)). Its annotated molecular function of [protein binding](/details-cell/GO:0005515) ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)), while broad, is consistent with its role as a structural protein that likely interacts with other components of the ciliary axoneme to maintain its architecture and facilitate motility. The gene's name itself, "ciliary microtubule inner protein 1," strongly implies it is an integral part of the microtubule-based core of the cilium, essential for its structural integrity and function. ## Research Directions Given the high specificity of [CIMIP1](/details-gene/128602) for ciliated cells, research should focus on its precise role in ciliary function and its potential dysregulation in disease. A cited study on its alias, LLC1, has investigated its expression in non-small cell lung cancer, suggesting its potential relevance in pathology ([Link](https://doi.org/10.14670/hh-11-608)). **Testable Hypotheses:** 1. Loss-of-function mutations in [CIMIP1](/details-gene/128602) disrupt the structural integrity of the ciliary axoneme, leading to impaired ciliary beat frequency and inefficient mucociliary clearance, thereby contributing to the pathology of primary ciliary dyskinesia (PCD) or related ciliopathies. 2. The expression of [CIMIP1](/details-gene/128602) is downregulated during the progression of certain lung cancers (e.g., adenocarcinoma) as epithelial cells lose their differentiated ciliated phenotype, and this reduction could serve as a biomarker for disease staging or dedifferentiation. **Proposed Experiment:** To test the hypothesis that [CIMIP1](/details-gene/128602) is critical for motile cilia function, an *in vitro* model using primary human bronchial epithelial cells (HBECs) grown at an air-liquid interface could be employed. CRISPR-Cas9-mediated knockout of [CIMIP1](/details-gene/128602) in these cells would be performed. The resulting differentiated epithelia could then be assessed for defects in ciliogenesis via immunofluorescence microscopy (staining for acetylated tubulin) and for functional deficits by measuring ciliary beat frequency (CBF) using high-speed video microscopy. **Therapeutic Potential:** Due to its highly restricted expression pattern, [CIMIP1](/details-gene/128602) is not an ideal target for systemic inhibition or activation, as this could have significant on-target toxicity in the respiratory and reproductive systems. However, its specificity makes it a valuable asset in other therapeutic contexts. It could serve as a sensitive biomarker for respiratory diseases characterized by ciliary dysfunction or loss of ciliated cells. Furthermore, the regulatory elements (e.g., the promoter) of the [CIMIP1](/details-gene/128602) gene could be harnessed in gene therapy vectors to drive the expression of a therapeutic payload specifically and exclusively within ciliated cells of the airway.

Genular Protein ID: 619885947

Symbol: CMIP1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9H1P6

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 2 Ensembl 1 GO 1 GeneCards 1 GeneTree 1 GenomeRNAi 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 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 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

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: 25786037

Title: Immunohistochemical localization of LLC1 in human tissues and its limited expression in non-small cell lung cancer.

PubMed ID: 25786037

DOI: 10.14670/hh-11-608

Sequence Information:

  • Length: 137
  • Mass: 15719
  • Checksum: 9EDB8FF6FA3CD923
  • Sequence:
    • MAQKPLSTAA AERMNLVGQD EIWKYRLKAE SEARQNWPQN WGFLTTPFEE LIKCEEDLPT 
PKPKIELPER FRIRPVTPVE KYIKVFPSPP VPQTTQGFIG WRSAVPGLNK CLELDDAIRS 
CKGAFARELC WPKQGVH