Details for: CCDC181

Gene ID: 57821

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: CCDC181

Ensembl ID: ENSG00000117477

Description: coiled-coil domain containing 181

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 12.9
    rCSI 11.34%
    PRS 92.03
  • lung ciliated cell CL1000271
    CSI 5.97
    rCSI 6.9%
    PRS 93.85
  • OFF-bipolar cell CL0000750
    CSI 4.82
    rCSI 6.6%
    PRS 95.29
  • neural crest cell CL0011012
    CSI 4.12
    rCSI 3.26%
    PRS 94.37
  • multi-ciliated epithelial cell CL0005012
    CSI 3.75
    rCSI 3.75%
    PRS 93.7
  • choroid plexus epithelial cell CL0000706
    CSI 2.87
    rCSI 4.7%
    PRS 93.72
  • vascular leptomeningeal cell CL4023051
    CSI 2.78
    rCSI 4.87%
    PRS 95.29
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.74
    rCSI 3.4%
    PRS 89.58
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 2.68
    rCSI 3.1%
    PRS 92.65
  • ciliated cell CL0000064
    CSI 2.62
    rCSI 4.24%
    PRS 92.75
  • retinal pigment epithelial cell CL0002586
    CSI 2.59
    rCSI 5.14%
    PRS 94.95
  • radial glial cell CL0000681
    CSI 2.59
    rCSI 3.59%
    PRS 96.28
  • glioblast CL0000030
    CSI 2.57
    rCSI 4.1%
    PRS 92.76
  • rod bipolar cell CL0000751
    CSI 2.56
    rCSI 4.6%
    PRS 94.12
  • retinal rod cell CL0000604
    CSI 2.51
    rCSI 4.43%
    PRS 94.28
  • peripheral nervous system neuron CL2000032
    CSI 2.43
    rCSI 3.31%
    PRS 93.71
  • forebrain radial glial cell CL0013000
    CSI 2.39
    rCSI 7.68%
    PRS 96.73
  • ependymal cell CL0000065
    CSI 2.36
    rCSI 4.79%
    PRS 86.2
  • retinal bipolar neuron CL0000748
    CSI 2.33
    rCSI 4.36%
    PRS 92.54
  • VIP GABAergic cortical interneuron CL4023016
    CSI 2.29
    rCSI 2.74%
    PRS 91.04
  • retinal cone cell CL0000573
    CSI 2.25
    rCSI 3.62%
    PRS 92.31
  • sst GABAergic cortical interneuron CL4023017
    CSI 2.17
    rCSI 2.8%
    PRS 91.67
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 2.12
    rCSI 4.84%
    PRS 92.21
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 2.07
    rCSI 3.66%
    PRS 90.79
  • deuterosomal cell CL4033044
    CSI 1.92
    rCSI 6.48%
    PRS 92.65
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 1.57
    rCSI 2.64%
    PRS 91.15
  • eye photoreceptor cell CL0000287
    CSI 1.2
    rCSI 13.54%
    PRS 96.6
  • dopaminergic neuron CL0000700
    CSI 1.06
    rCSI 5.97%
    PRS 90.71
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 1.02
    rCSI 2.49%
    PRS 89.45
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 0.83
    rCSI 2.59%
    PRS 92.67
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 0.63
    rCSI 2.26%
    PRS 89.68

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 [CCDC181](/details-gene/57821) (Coiled-Coil Domain Containing 181) is a protein-coding gene located on human chromosome 1q24.2. Functional annotations suggest its protein product is involved in microtubule binding and is localized to the cytoplasm, microtubules, and specialized microtubule-based structures like the manchette and sperm flagellum. **Overall** expression analysis reveals that [CCDC181](/details-gene/57821) is a highly significant marker for various ciliated cell types, most notably [ciliated epithelial cell](/details-cell/CL0000067), indicating a crucial role in the formation or function of cilia and flagella. ## Cellular Roles and Expression Landscape The expression profile of [CCDC181](/details-gene/57821) strongly points towards a specialized function in cells possessing motile, microtubule-based projections. The gene shows its highest significance in [ciliated epithelial cell](/details-cell/CL0000067) (CSI: 12.90), followed by other related cell types such as [lung ciliated cell](/details-cell/CL1000271) and [multi-ciliated epithelial cell](/details-cell/CL0005012). This cluster of ciliated cells suggests a fundamental role in processes dependent on ciliary action, such as mucociliary clearance in the respiratory tract. In addition to its prominent role in ciliated epithelia, [CCDC181](/details-gene/57821) also exhibits significant expression in several neuronal and glial cell types, particularly within the retina. These include [OFF-bipolar cell](/details-cell/CL0000750), [retinal rod cell](/details-cell/CL0000604), and [radial glial cell](/details-cell/CL0000681). This pattern suggests a secondary role related to microtubule-dependent processes in the central nervous system, such as neuronal development, structural maintenance, or intracellular transport. The gene was identified and annotated as part of large-scale sequencing efforts of the human genome and full-length cDNA collections ([Link](https://doi.org/10.1038/nature04727), [Link](https://doi.org/10.1101/gr.2596504)). ## Pathways and Molecular Function The known molecular function and cellular localization of the [CCDC181](/details-gene/57821) protein are highly consistent with its observed expression pattern. * **Molecular Function:** The primary annotated function is microtubule binding ([GO:0008017](https://www.ebi.ac.uk/QuickGO/term/GO:0008017)), which is the core activity underlying its biological roles. * **Cellular Component:** It is found in the [cytoplasm](/details-cell/GO:0005737) and is a component of the [microtubule](/details-cell/GO:0005874) cytoskeleton. Its enrichment in specialized structures like the [sperm flagellum](/details-cell/GO:0036126) and the [manchette](/details-cell/GO:0002177) (a microtubular structure in developing spermatids) further solidifies its association with motile and developmental microtubule arrays. This functional profile directly explains its high significance in ciliated cells and sperm precursors, as the axonemes of cilia and flagella are complex, highly organized microtubule-based structures. Its role in retinal cells may also relate to the maintenance of microtubule-rich structures within photoreceptors or neuronal processes. ## Research Directions The specific expression pattern and microtubule-binding function of [CCDC181](/details-gene/57821) suggest it may be a critical, yet understudied, component of cellular motility and structure, with potential implications for human genetic disorders. ### Proposed Hypotheses 1. **[CCDC181](/details-gene/57821) is essential for ciliogenesis or ciliary function, and loss-of-function mutations may contribute to the etiology of ciliopathies, such as Primary Ciliary Dyskinesia (PCD).** This is based on its exceptionally high and specific expression in ciliated epithelial cells. 2. **In the retina, [CCDC181](/details-gene/57821) plays a role in the stability or transport of components along the microtubule-based axoneme of photoreceptor cells.** Disruption of this function could contribute to retinal degeneration phenotypes. ### Key Experiment To test the primary hypothesis regarding its role in ciliary function, a robust *in vitro* model could be employed. Specifically, one could **use CRISPR-Cas9 to knock out [CCDC181](/details-gene/57821) in human bronchial epithelial cells (HBECs) grown at an air-liquid interface (ALI).** These cultures differentiate to form a mucociliary epithelium. The impact of the knockout could be assessed by comparing wild-type and knockout cultures for: * Cilia formation and density via immunofluorescence microscopy (staining for acetylated tubulin). * Ciliary beat frequency and coordination using high-speed video microscopy. * Mucociliary transport efficiency by tracking the movement of fluorescent microspheres placed on the epithelial surface. ### Therapeutic Potential Given its likely role as a structural or regulatory component of cilia, [CCDC181](/details-gene/57821) is not a conventional drug target for inhibition. However, if mutations in the gene are linked to a recessive ciliopathy, it could be a candidate for **gene replacement therapy**. A strategy delivering a functional copy of [CCDC181](/details-gene/57821) via an adeno-associated virus (AAV) vector to the respiratory epithelium could potentially restore ciliary function. Therefore, therapeutic approaches would focus on functional restoration or activation rather than inhibition.

Genular Protein ID: 555724

Symbol: CC181_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5TID7 O60780 Q53FD5 Q5TID9 Q8TC48

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 3 ExpressionAtlas 1 GO 5 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 8 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

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: 509
  • Mass: 60103
  • Checksum: F3FE11900539F24E
  • Sequence:
    • MNENKDTDSK KSEEYEDDFE KDLEWLINEN EKSDASIIEM ACEKEENINQ DLKENETVME 
HTKRHSDPDK SLQDEVSPRR NDIISVPGIQ PLDPISDSDS ENSFQESKLE SQKDLEEEED 
EEVRRYIMEK IVQANKLLQN QEPVNDKRER KLKFKDQLVD LEVPPLEDTT TFKNYFENER 
NMFGKLSQLC ISNDFGQEDV LLSLTNGSCE ENKDRTILVE RDGKFELLNL QDIASQGFLP 
PINNANSTEN DPQQLLPRSS NSSVSGTKKE DSTAKIHAVT HSSTGEPLAY IAQPPLNRKT 
CPSSAVNSDR SKGNGKSNHR TQSAHISPVT STYCLSPRQK ELQKQLEEKR EKLKREEERR 
KIEEEKEKKR ENDIVFKAWL QKKREQVLEM RRIQRAKEIE DMNSRQENRD PQQAFRLWLK 
KKHEEQMKER QTEELRKQEE CLFFLKGTEG RERAFKQWLR RKRMEKMAEQ QAVRERTRQL 
RLEAKRSKQL QHHLYMSEAK PFRFTDHYN

Genular Protein ID: 3390952702

Symbol: B2R917_HUMAN

Name: N/A

UniProtKB Accession Codes:

B2R917

Database IDs:

ARBA 9 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 4 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 RefSeq 1 SAM 1

Sequence Information:

  • Length: 508
  • Mass: 59915
  • Checksum: 5DEBB60ED87BAC1E
  • Sequence:
    • MNENKDTDSK KSEEYEDDFE KDLEWLINEN EKSDASIIEM ACEKEENINQ DLKENETVME 
HTKRHSDPDK SLQDEVSPRR NDIISVPGIQ PLDPISDSDS ENSFQESKLE SQKDLEEEED 
EEVRRYIMEK IVQANKLLQN QEPVNDKRER KLKFKDQLVD LEVPPLEDTT TSKNYFENER 
NMFGKLSQLC ISNDFGQEDV LLSLTNGSCE ENKDRTILVE RDGKFELLNL QDIASQGFLP 
PINNANSTEN DPQQLLPRSS NSSVSGTKKE DSTAKIHAVT HSSTGEPLAY IAQPPLNRKT 
CPSSAVNSDR SKGNGKSNHR TQSAHISPVT STYCLSPRQK ELQKQLEEKR EKLKREEERR 
KIEEEKEKKR ENDIVFKAWL QKKREQVLEM RRIQRAKEIE DMNSRENRDP QQAFRLWLKK 
KHEEQMKERQ TEELRKQEEC LFFLKGTEGR ERAFKQWLRR KRMEKMAEQQ AVRERTRQLR 
LEAKRSKQLQ HHLYMSEAKP FRFTDHYN