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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NUDCD3
NudC domain containing 3
Chromosome 7 · 7p13
NCBI Gene: 23386Ensembl: ENSG00000015676.19HGNC: HGNC:22208UniProt: Q8IVD9
70PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cilium assemblyprotein bindingprotein localization to pericentriolar materialcytoplasmic dynein complexOmenn syndromesevere combined immunodeficiencypathological myopiainsomnia
✦AI Summary

NUDCD3 (NudC domain containing 3) is a molecular chaperone essential for cytoplasmic dynein complex stability and function. It associates with both dynein-1 and dynein-2 complexes as a regulatory protein 1, and functions to stabilize dynein intermediate chain and prevent its proteasomal degradation 2. NUDCD3 is particularly critical for V(D)J recombination during T and B cell development; mutations cause severe combined immunodeficiency (SCID) or Omenn syndrome by impairing RAG-mediated recombination through pathologic sequestration of RAG1 in nucleoli 3. Beyond immune function, NUDCD3 regulates intermediate filament proteostasis by interacting with gigaxonin through its Kelch 3 motif, affecting vimentin filament morphology and degradation 4. NUDCD3's role in dynein-dependent processes extends to cilium assembly and protein localization to pericentriolar material. Gene aberrations involving NUDCD3, including novel NUDCD3-ROS1 fusions, have been identified in inflammatory myofibroblastic tumors 5. Overall, NUDCD3 functions as a chaperone supporting dynein stability and multiple cellular processes dependent on dynein motors and cytoskeletal organization.

Sources cited
1
NUDCD3 mutations cause SCID and Omenn syndrome through impaired V(D)J recombination and RAG1 sequestration in nucleoli; absolutely required for healthy T and B cell development in humans
PMID: 38787962
2
NUDCD3 associates with dynein-2 complex as part of the retrograde intraflagellar transport motor, similar to its association with dynein-1
PMID: 25205765
3
NUDCD3-like protein (NudCL) binds dynein complex, stabilizes dynein intermediate chain, and prevents its proteasomal degradation; essential for mitotic function and cell viability
PMID: 16754861
4
NUDCD3 interacts with gigaxonin through the Kelch 3 motif and regulates intermediate filament proteostasis and vimentin filament morphology
PMID: 40749357
5
Novel NUDCD3-ROS1 fusions identified in inflammatory myofibroblastic tumors with potential therapeutic implications
PMID: 36624188
Disease Associationsⓘ20
Omenn syndromeOpen Targets
0.38Weak
severe combined immunodeficiencyOpen Targets
0.37Weak
pathological myopiaOpen Targets
0.32Weak
insomniaOpen Targets
0.29Weak
Abnormality of limbsOpen Targets
0.28Weak
Abruptio PlacentaeOpen Targets
0.19Weak
neurodegenerative diseaseOpen Targets
0.18Weak
metabolic syndromeOpen Targets
0.12Weak
hyperinsulinism due to INSR deficiencyOpen Targets
0.06Suggestive
hyperinsulinism-hyperammonemia syndromeOpen Targets
0.06Suggestive
isolated agammaglobulinemiaOpen Targets
0.05Suggestive
hyperinsulinism due to glucokinase deficiencyOpen Targets
0.05Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.05Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.05Suggestive
gamma chain deficiencyOpen Targets
0.05Suggestive
Severe combined immunodeficiency due to adenosine deaminase deficiencyOpen Targets
0.04Suggestive
exercise-induced hyperinsulinismOpen Targets
0.04Suggestive
Combined pituitary hormone deficiencies, genetic formsOpen Targets
0.04Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.04Suggestive
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaOpen Targets
0.04Suggestive
Pathogenic Variants1
NM_015332.4(NUDCD3):c.938A>C (p.His313Pro)Likely pathogenic
not provided
★☆☆☆2024→ Residue 313
View on ClinVar ↗
Related Genes
DYNLL2Protein interaction97%DYNC1LI1Protein interaction93%DYNC2LI1Protein interaction90%TPRProtein interaction90%PTGES3Protein interaction80%DYNC1H1Protein interaction79%
Tissue Expression6 tissues
Brain
100%
Heart
81%
Ovary
54%
Liver
45%
Lung
39%
Bone Marrow
26%
Gene Interaction Network
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NUDCD3DYNLL2DYNC1LI1DYNC2LI1TPRPTGES3DYNC1H1
PROTEIN STRUCTURE
Preparing viewer…
PDB1WGV · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.49Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.30 [0.19–0.49]
RankingsWhere NUDCD3 stands among ~20K protein-coding genes
  • #6,740of 20,598
    Most Researched70
  • #4,998of 5,498
    Most Pathogenic Variants1
  • #2,907of 17,882
    Most Constrained (LOEUF)0.49 · top quartile
Genes detectedNUDCD3
Sources retrieved6 papers
Response time—
📄 Sources
6â–¼
1
PMID: 38787962
Sci Immunol · 2024
1.00
2
Uterine inflammatory myofibroblastic tumor harboring novel NUDCD3-ROS1 and NRP2-ALK fusions: clinicopathologic features of 4 cases and literature review.
PMID: 36624188
Virchows Arch · 2023
0.83
3
Subunit composition of the human cytoplasmic dynein-2 complex.
PMID: 25205765
J Cell Sci · 2014
0.67
4
The Kelch 3 motif on gigaxonin mediates the interaction with NUDCD3 and regulates vimentin filament morphology.
PMID: 40749357
Eur J Cell Biol · 2025
0.50
5
A mammalian NudC-like protein essential for dynein stability and cell viability.
PMID: 16754861
Proc Natl Acad Sci U S A · 2006
0.33