Details for: HOATZ

Gene ID: 399949

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: HOATZ

Ensembl ID: ENSG00000183644

Description: HOATZ cilia and flagella associated protein

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 24.24
    rCSI 21.32%
    PRS 99.45
  • multi-ciliated epithelial cell CL0005012
    CSI 16.98
    rCSI 16.95%
    PRS 99.71
  • choroid plexus epithelial cell CL0000706
    CSI 12.32
    rCSI 20.18%
    PRS 99.54
  • lung ciliated cell CL1000271
    CSI 10.94
    rCSI 12.65%
    PRS 99.74
  • ependymal cell CL0000065
    CSI 10.39
    rCSI 21.08%
    PRS 98.69
  • ciliated cell CL0000064
    CSI 10.19
    rCSI 16.51%
    PRS 99.46
  • nasal mucosa goblet cell CL0002480
    CSI 8.23
    rCSI 9.54%
    PRS 99.7
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 7.84
    rCSI 17.87%
    PRS 99.58
  • squamous epithelial cell CL0000076
    CSI 6.35
    rCSI 15.07%
    PRS 99.31
  • deuterosomal cell CL4033044
    CSI 3.91
    rCSI 13.23%
    PRS 99.6

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
    • Medium
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    • 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 [HOATZ](/details-gene/399949) (HOATZ cilia and flagella associated protein) is a protein-coding gene located on chromosome 11q23.1. As its name suggests, [HOATZ](/details-gene/399949) is fundamentally involved in the formation and function of cilia and flagella, motile cellular appendages critical for fluid movement and cell locomotion. Functional annotations link it directly to processes such as `[Axoneme assembly](/details-go/GO:0035082)`, `[Cilium assembly](/details-go/GO:0060271)`, and `[Flagellated sperm motility](/details-go/GO:0030317)`. This is strongly corroborated by expression data, which shows that [HOATZ](/details-gene/399949) is a highly significant and specific marker for ciliated cell lineages. Its identification has been supported by large-scale cDNA sequencing projects aimed at characterizing the human transcriptome ([Link](https://doi.org/10.1038/ng1285), [Link](https://doi.org/10.1101/gr.2596504)). ## Cellular Roles and Expression Landscape The expression profile of [HOATZ](/details-gene/399949) underscores its specialized role in ciliated cells. **Overall**, the gene exhibits its highest significance in cell types characterized by the presence of motile cilia. It is the top marker in `[ciliated epithelial cell](/details-cell/CL0000067)` (CSI: 24.24) and `[multi-ciliated epithelial cell](/details-cell/CL0005012)` (CSI: 16.98), indicating a critical role in establishing the identity and function of these cells. This pattern of high expression extends across various anatomical locations where ciliary action is paramount: * **Respiratory System:** High significance in `[lung ciliated cell](/details-cell/CL1000271)` (CSI: 10.94) and `[ciliated columnar cell of tracheobronchial tree](/details-cell/CL0002145)` (CSI: 7.84) suggests a key role in mucociliary clearance. * **Nervous System:** Strong expression in `[choroid plexus epithelial cell](/details-cell/CL0000706)` (CSI: 12.32) and `[ependymal cell](/details-cell/CL0000065)` (CSI: 10.39) is consistent with its function in cilia that circulate cerebrospinal fluid. * **Development:** Its significance in `[deuterosomal cell](/details-cell/CL4033044)` (CSI: 3.91), a precursor involved in the generation of multiple cilia, points to a role during the early stages of ciliogenesis. The consistent and high-level expression across these functionally related cell types establishes [HOATZ](/details-gene/399949) as a core component of the molecular machinery required for building and maintaining motile cilia. ## Pathways and Molecular Function The molecular functions of [HOATZ](/details-gene/399949) are tightly linked to the biology of cilia and flagella. Gene Ontology annotations place the protein within the `[cytoplasm](/details-go/GO:0005737)` and as a component of the `[cilium](/details-go/GO:0005929)`. Its involvement in biological processes is highly specific: * **Structural Assembly:** [HOATZ](/details-gene/399949) is annotated for both `[Axoneme assembly](/details-go/GO:0035082)` and `[Cilium assembly](/details-go/GO:0060271)`. The axoneme is the microtubule-based core of cilia and flagella, and proper assembly is essential for their motility. This function directly explains its high expression in the diverse ciliated epithelial cells observed in the expression landscape. * **Reproduction:** The gene plays a role in `[Spermatogenesis](/details-go/GO:0007283)` and specifically in `[Flagellated sperm motility](/details-go/GO:0030317)`. The sperm flagellum is a specialized cilium, and this annotation suggests that [HOATZ](/details-gene/399949) is critical for male fertility. ## Research Directions Given the specialized function and highly specific expression pattern of [HOATZ](/details-gene/399949), future research should focus on its role in human genetic disorders related to ciliary and flagellar dysfunction, known as ciliopathies. **Proposed Testable Hypotheses:** 1. Loss-of-function mutations in [HOATZ](/details-gene/399949) are a causative factor in a subset of patients with primary ciliary dyskinesia (PCD), a genetic disorder characterized by chronic respiratory infections and situs inversus due to impaired ciliary function. 2. Deleterious variants in [HOATZ](/details-gene/399949) contribute to certain forms of male infertility characterized by asthenozoospermia (reduced sperm motility) due to structural defects in the sperm flagellum. **Suggested Experimental Approach:** To test the hypothesis regarding male infertility (Hypothesis 2), a robust approach would be to generate a `Hoatz` knockout mouse model using CRISPR-Cas9 technology. Key experiments would include: * **Fertility Assessment:** Mating studies with knockout and wild-type mice to determine if loss of `Hoatz` leads to reduced litter sizes or complete sterility in males. * **Sperm Analysis:** Collection and analysis of sperm from knockout males to assess count, viability, and motility using computer-assisted sperm analysis (CASA). * **Ultrastructural Analysis:** Examination of sperm flagella using transmission electron microscopy (TEM) to identify any defects in the axonemal structure, such as missing dynein arms or microtubule disorganization, compared to wild-type controls. **Therapeutic Potential:** As [HOATZ](/details-gene/399949) appears to be a structural protein essential for normal cellular function, it is not a conventional drug target for inhibition or activation. Its primary clinical relevance is likely as a diagnostic gene. Sequencing of [HOATZ](/details-gene/399949) in patients with unexplained PCD or male infertility could identify pathogenic variants, providing a definitive diagnosis. In the long term, for monogenic disorders caused by [HOATZ](/details-gene/399949) mutations, gene therapy could be a potential therapeutic avenue, although this remains a highly challenging and future-oriented approach for ciliopathies.

Genular Protein ID: 2926307097

Symbol: HOATZ_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6PI97 E9PAN0 Q6ZRL3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 2 ExpressionAtlas 1 GO 6 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 1 KEGG 1 MANE-Select 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PeptideAtlas 1 Pfam 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 2 SMR 1 STRING 1 TreeFam 1 UCSC 1 VEuPathDB 1 iPTMnet 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: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 169
  • Mass: 19340
  • Checksum: D52B248E1197299D
  • Sequence:
    • METGPSEEPS GRKESQEMCP PGLLVFAGSS EQDANLAKQF WISASMYPPS ESQLVLRRDS 
SQRLPVARPR RSRGSENSHS SQSFHLASNK NRDIFAEALK IQESEEKVKY LQKAKTREEI 
LQLLRKQREE RISKELISLP YKPKAKEHKA KKVVSESDKE DQEEVKTLD