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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NMD3
NMD3 ribosome export adaptor
Chromosome 3 · 3q26.1
NCBI Gene: 51068Ensembl: ENSG00000169251.13HGNC: HGNC:24250UniProt: C9JA08
62PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membraneprotein-macromolecule adaptor activityribosomal large subunit bindingribosomal large subunit export from nucleusneurodegenerative diseasemusculoskeletal system diseasespondylolisthesisFamilial prostate cancer
✦AI Summary

NMD3 is a nucleocytoplasmic adaptor protein that mediates nuclear export of the 60S ribosomal subunit in an XPO1/CRM1-dependent manner 1. NMD3 contains a leucine-rich nuclear export signal recognized by CRM1 and a complex nuclear localization signal required for nucleolar accumulation 1. The protein binds to maturing 60S pre-export particles at late maturation stages and acts as a functional adaptor coupling 60S subunit recognition to CRM1-mediated export 1. NMD3 nucleolar localization is independent of CRM1 activity, suggesting it provides nucleolar tethering of the export machinery 2. Beyond export, NMD3 participates in coordinating rRNA synthesis rates with processing efficiency; NMD3 depletion reduces pre-47S rRNA synthesis without directly affecting transcription 2. The protein also interacts genetically with ribosomal protein L10 in translational control 3. Clinically, NMD3 variants show disease associations: the rs34016896 polymorphism correlates with cognitive impairment in Parkinson's disease patients 4 and influences PD symptomatology phenotypes 5. NMD3 is a therapeutic target; the marine compound portimine A selectively induces cancer cell apoptosis through NMD3 inhibition 6. Selinexor sensitivity in multiple myeloma involves NMD3-mediated nuclear export regulation 7.

Sources cited
1
NMD3 acts as an adaptor for CRM1-Ran.GTP-mediated 60S subunit export containing nuclear export and localization signals
PMID: 12773398
2
NMD3 localizes to the nucleolus independently of CRM1 and affects pre-47S rRNA synthesis rates
PMID: 23782956
3
NMD3 interacts genetically with GRC5 (ribosomal protein L10) in translational control
PMID: 9933353
4
NMD3 rs34016896 polymorphism is associated with worse cognitive function in Parkinson's disease patients
PMID: 31937261
5
NMD3 rs34016896 allele influences PD symptom phenotypes and associates with synucleinopathies risk
PMID: 29564728
6
Portimine A induces cancer cell apoptosis by targeting NMD3 as identified through photoaffinity labeling
PMID: 37730997
7
NMD3 localization is regulated by hnRNPU and affects multiple myeloma sensitivity to selinexor
PMID: 37984724
8
NMD3 recruitment to pre-60S particles is regulated by the GTPase Nug2, establishing export competence timing
PMID: 24240281
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
musculoskeletal system diseaseOpen Targets
0.14Weak
spondylolisthesisOpen Targets
0.14Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
exerciseOpen Targets
0.08Suggestive
Romano-Ward syndromeOpen Targets
0.07Suggestive
Familial short QT syndromeOpen Targets
0.05Suggestive
Brugada syndromeOpen Targets
0.05Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.05Suggestive
familial atrial fibrillationOpen Targets
0.05Suggestive
hypertrophic cardiomyopathyOpen Targets
0.04Suggestive
long QT syndrome 1Open Targets
0.04Suggestive
Jervell and Lange-Nielsen syndrome 1Open Targets
0.04Suggestive
familial sick sinus syndromeOpen Targets
0.04Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.04Suggestive
Brugada syndrome 9Open Targets
0.04Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.04Suggestive
long QT syndrome 9Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RPL4Protein interaction100%RPL30Protein interaction100%RPL24Protein interaction100%RPL26Protein interaction100%RPL23AProtein interaction100%RPL8Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
75%
Liver
59%
Brain
34%
Lung
32%
Ovary
31%
Gene Interaction Network
Click a node to explore
NMD3RPL4RPL30RPL24RPL26RPL23ARPL8
PROTEIN STRUCTURE
Preparing viewer…
PDB6LQM · 3.09 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.54 [0.35–0.88]
RankingsWhere NMD3 stands among ~20K protein-coding genes
  • #7,484of 20,598
    Most Researched62
  • #7,761of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedNMD3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
GRC5 and NMD3 function in translational control of gene expression and interact genetically.
PMID: 9933353
Curr Genet · 1999
1.00
2
CRM1 and its ribosome export adaptor NMD3 localize to the nucleolus and affect rRNA synthesis.
PMID: 23782956
Nucleus · 2013
0.90
3
RNA-binding protein hnRNPU regulates multiple myeloma resistance to selinexor.
PMID: 37984724
Cancer Lett · 2024
0.80
4
Association between NMD3 and symptoms of Parkinson's disease in Chinese patients.
PMID: 31937261
BMC Neurol · 2020
0.70
5
Determining the Effect of the HNMT, STK39, and NMD3 Polymorphisms on the Incidence of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Multiple System Atrophy in Chinese Populations.
PMID: 29564728
J Mol Neurosci · 2018
0.60