| Name | dynein axonemal assembly factor 4 |
| Description | This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DNAAF4, formerly known as DYX1C1, emerges as a multifunctional protein with dual roles in neurodevelopment and in the assembly of motile cilia. In the developing brain, DNAAF4 influences neuronal migration, and genetic manipulation in rodent models shows that disruption of its function impairs the proper positioning of neurons—a finding that has been linked to dyslexia and related cognitive deficits."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " In parallel, DNAAF4 is essential for the cytoplasmic pre‐assembly of axonemal dynein motors; it interacts with molecular chaperones and established dynein arm assembly factors (for example, DNAAF2) to promote the proper assembly and docking of both outer and inner dynein arms onto ciliary axonemes. Loss of DNAAF4 function leads to structural defects in motile cilia that manifest as disrupted ciliary beating, resulting in clinical phenotypes such as primary ciliary dyskinesia—with its attendant airway disease, laterality defects, and infertility."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Together, these findings highlight that DNAAF4 is a critical regulator at the crossroads of neuronal migration and ciliary dynein assembly, linking its molecular actions to both neurodevelopmental disorders and ciliopathies.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Y Wang, M Paramasivam, A Thomas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DYX1C1 functions in neuronal migration in developing neocortex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuroscience (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neuroscience.2006.08.022"}], "href": "https://doi.org/10.1016/j.neuroscience.2006.08.022"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16989952"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16989952"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "C Marino, A Citterio, R Giorda, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of short-term memory with a variant within DYX1C1 in developmental dyslexia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Brain Behav (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1601-183X.2006.00291.x"}], "href": "https://doi.org/10.1111/j.1601-183X.2006.00291.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17309662"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17309662"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Faten Dahdouh, Heidi Anthoni, Isabel Tapia-Páez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Further evidence for DYX1C1 as a susceptibility factor for dyslexia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Psychiatr Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/YPG.0b013e32832080e1"}], "href": "https://doi.org/10.1097/YPG.0b013e32832080e1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19240663"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19240663"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Aarti Tarkar, Niki T Loges, Christopher E Slagle, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DYX1C1 is required for axonemal dynein assembly and ciliary motility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2707"}], "href": "https://doi.org/10.1038/ng.2707"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23872636"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23872636"}]}]}]}
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| NCBI Gene ID | 161582 |
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| Expression in Tissues and Cell Lines |
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DNAAF4 has 1,082 functional associations with biological entities spanning 5 categories (disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 31 datasets.
Click the + buttons to view associations for DNAAF4 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of DNAAF4 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with DNAAF4 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of DNAAF4 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with DNAAF4 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of DNAAF4 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing DNAAF4 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with DNAAF4 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by DNAAF4 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving DNAAF4 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with DNAAF4 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with DNAAF4 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with DNAAF4 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving DNAAF4 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving DNAAF4 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing DNAAF4 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing DNAAF4 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by DNAAF4 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by DNAAF4 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of DNAAF4 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by DNAAF4 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of DNAAF4 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of DNAAF4 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by DNAAF4 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving DNAAF4 protein from the Wikipathways PFOCR 2024 dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of DNAAF4 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of DNAAF4 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of DNAAF4 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of DNAAF4 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of DNAAF4 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with DNAAF4 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving DNAAF4 protein from the WikiPathways Pathways 2024 dataset. | |
