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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DYDC1
DPY30 domain containing 1
Chromosome 10 · 10q23.1
NCBI Gene: 143241Ensembl: ENSG00000170788.15HGNC: HGNC:23460UniProt: Q8WWB3
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingaxonemeradial spokeciliumglaucomaexostosishead and neck malignant neoplasiaexfoliation syndrome
✦AI Summary

DYDC1 (DPY30 domain containing 1) is a testis and brain-expressed protein that plays critical roles in male germ cell development and ciliary function. Functionally, DYDC1 is a structural component of radial spoke 1 (RS1) complexes within axonemes, where it constitutes part of the RS1 head-neck complex alongside NME5, DNAJB13, and PPIL6 1. During spermiogenesis, DYDC1 interacts with the BAR domain-containing protein SH3P13 and accumulates in the acrosome area during late spermatid differentiation, where it plays a crucial role in regulating acrosome biogenesis—the process of forming the sperm acrosome 2. RNA interference studies demonstrate that knockdown of endogenous Dydc1 interferes with acrosome formation and spermatid differentiation 2. Through its role in radial spoke assembly, DYDC1 contributes to regulating sperm flagellar beat frequency and amplitude, as deficiency in RS1 components correlates with reduced sperm kinetic parameters and asthenozoospermia (reduced sperm motility) 1. While DYDC1 was examined as a candidate gene in genetic studies of myofibrillar myopathy and hereditary spastic paraplegia, no disease-causing mutations were identified in these contexts 3. Clinically, DYDC1 dysfunction may contribute to male infertility through impaired spermatogenesis and reduced sperm motility.

Sources cited
1
DYDC1 is exclusively expressed in brain and testis, accumulates in the acrosome area during spermiogenesis, interacts with SH3P13, and plays a crucial role in acrosome biogenesis
PMID: 19545932
2
DYDC1 is a critical component of radial spoke 1 (RS1), constituting part of the RS1 head-neck complex, and is essential for RS1 assembly and sperm flagellar beat regulation
PMID: 39849482
3
DYDC1 was examined as a candidate gene in the 10q22.3 region linked to myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy, but no disease-causing mutations were found
PMID: 18197198
4
DPY30 (related to DYDC1 domain) was examined in hereditary spastic paraplegia, with partial deletions identified in the DPY30 gene region
PMID: 20857310
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
glaucomaOpen Targets
0.39Weak
exostosisOpen Targets
0.13Weak
head and neck malignant neoplasiaOpen Targets
0.13Weak
exfoliation syndromeOpen Targets
0.13Weak
goutOpen Targets
0.11Weak
kidney failureOpen Targets
0.10Weak
heart failureOpen Targets
0.07Suggestive
neurodegenerative diseaseOpen Targets
0.07Suggestive
open-angle glaucomaOpen Targets
0.07Suggestive
coronary artery diseaseOpen Targets
0.04Suggestive
celiac diseaseOpen Targets
0.03Suggestive
ankylosing spondylitisOpen Targets
0.03Suggestive
liver diseaseOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.02Suggestive
Abdominal Aortic AneurysmOpen Targets
0.02Suggestive
Abnormal sperm morphologyOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
male infertilityOpen Targets
0.00Suggestive
metastatic neoplasmOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RSPH14Shared pathway100%DRC3Shared pathway100%RSPH3Shared pathway100%DRC8Shared pathway100%DRC10Shared pathway100%CFAP251Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Liver
88%
Brain
88%
Lung
88%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
DYDC1RSPH14DRC3RSPH3DRC8DRC10CFAP251
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8WWB3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.48–1.06]
RankingsWhere DYDC1 stands among ~20K protein-coding genes
  • #14,415of 20,598
    Most Researched19
  • #10,655of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedDYDC1
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Interaction of SH3P13 and DYDC1 protein: a germ cell component that regulates acrosome biogenesis during spermiogenesis.
PMID: 19545932
Eur J Cell Biol · 2009
1.00
2
IQUB mutation induces radial spoke 1 deficiency causing asthenozoospermia with normal sperm morphology in humans and mice.
PMID: 39849482
Cell Commun Signal · 2025
0.80
3
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.
PMID: 18197198
Eur J Hum Genet · 2008
0.60
4
Corrigendum to "Interaction of SH3P13 and DYDC1 protein: a germ cell component that regulates acrosome biogenesis during spermiogenesis" [Eur. J. Cell Biol. 88 (2009) 509-520].
PMID: 30497823
Eur J Cell Biol · 2019
0.40
5
Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family.
PMID: 20857310
Neurogenetics · 2011
0.20