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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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NDE1
nudE neurodevelopment protein 1
Chromosome 16 Β· 16p13.11
NCBI Gene: 54820Ensembl: ENSG00000072864.17HGNC: HGNC:17619UniProt: Q9NXR1
105PubMed Papers
22Diseases
0Drugs
9Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
establishment of mitotic spindle orientationcentrosomecerebral cortex developmentkinetochorelissencephaly 4NDE1-related microhydranencephalyaortic aneurysm, familial thoracic 4familial thoracic aortic aneurysm and aortic dissection
✦AI Summary

NDE1 (nudE neurodevelopment protein 1) is essential for cerebral cortex development, functioning primarily in centrosome duplication, mitotic spindle formation, and neuronal progenitor division 1. NDE1 regulates the orientation of the mitotic spindle in cortical progenitors; perpendicular division orientation produces two proliferative progenitors, while parallel orientation yields one progenitor and one postmitotic neuron, directly controlling final neuron numbers and cortical layer composition 2. Mechanistically, NDE1 recruits and stabilizes LIS1 binding to dynein, promoting assembly of active dynein-dynactin-adaptor complexes essential for intracellular transport and nucleokinesis 3. NDE1 also acts as a RAB9A/B effector, tethering late endosomes to dynein for retrograde transport to the trans-Golgi network. NDE1 mutations and deletions cause severe neurodevelopmental disorders: homozygous or compound heterozygous NDE1 mutations result in lissencephaly 4 with microcephaly and microhydranencephaly, characterized by severe microcephaly, intellectual disability, and corpus callosum abnormalities 4. 16p13.11 duplications containing NDE1 are associated with developmental delay, intellectual disability, and autism spectrum disorder, with NDE1 identified as essential to the neurocognitive phenotype 5. These findings establish NDE1 as a critical regulator of brain size and cortical architecture through dynein-dependent mechanisms.

Sources cited
1
NDE1 and NDEL1 are essential for brain development with key roles in dynein regulation and neurodevelopmental disorders
PMID: 27742926
2
NDE1 loss-of-function leads to microcephaly-related cortical malformations through disrupted neuronal migration and nucleokinesis
PMID: 38194050
3
NDE1 recruits Lis1 to promote assembly of active dynein-dynactin complexes and regulate intracellular transport
PMID: 37940657
4
NDE1 mutations and deletions cause severe congenital microcephaly with intellectual disability and corpus callosum agenesis
PMID: 29191162
5
NDE1 is essential for the neurocognitive phenotype in 16p13.11 duplications associated with developmental delay, intellectual disability, and autism
PMID: 30287593
Disease Associationsβ“˜22
lissencephaly 4Open Targets
0.76Strong
NDE1-related microhydranencephalyOpen Targets
0.63Moderate
aortic aneurysm, familial thoracic 4Open Targets
0.55Moderate
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.50Moderate
megacystis-microcolon-intestinal hypoperistalsis syndrome 2Open Targets
0.49Moderate
visceral myopathy 2Open Targets
0.45Moderate
aortic aneurysmOpen Targets
0.38Weak
LissencephalyOpen Targets
0.37Weak
marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissectionsOpen Targets
0.37Weak
autosomal recessive primary microcephalyOpen Targets
0.37Weak
Primary microcephalyOpen Targets
0.37Weak
hydranencephalyOpen Targets
0.37Weak
lissencephaly spectrum disordersOpen Targets
0.37Weak
Lissencephaly syndrome, Norman-Roberts typeOpen Targets
0.37Weak
microcephaly with lissencephaly and/or hydranencephalyOpen Targets
0.37Weak
Rare disease with thoracic aortic aneurysm and aortic dissectionOpen Targets
0.35Weak
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.31Weak
hypertensionOpen Targets
0.30Weak
Abnormal left ventricle morphologyOpen Targets
0.27Weak
Aortic root aneurysmOpen Targets
0.27Weak
Lissencephaly 4 with microcephalyUniProt
MicrohydranencephalyUniProt
Pathogenic Variants9
NM_017668.3(NDE1):c.109C>T (p.Arg37Ter)Pathogenic
not provided|Lissencephaly 4
β˜…β˜…β˜†β˜†2025β†’ Residue 37
NM_017668.3(NDE1):c.684_685del (p.Pro229fs)Pathogenic
Lissencephaly 4|not provided|NDE1-related microhydranencephaly
β˜…β˜…β˜†β˜†2024β†’ Residue 229
NM_017668.3(NDE1):c.658C>T (p.Arg220Ter)Pathogenic
Lissencephaly 4
β˜…β˜…β˜†β˜†2024β†’ Residue 220
NM_017668.3(NDE1):c.734del (p.Leu245fs)Likely pathogenic
NDE1-related microhydranencephaly
β˜…β˜†β˜†β˜†2024β†’ Residue 245
NM_017668.3(NDE1):c.733dup (p.Leu245fs)Pathogenic
Lissencephaly 4|NDE1-related disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 245
NM_017668.3(NDE1):c.83+1G>TPathogenic
Lissencephaly 4
β˜…β˜†β˜†β˜†2015
NM_017668.3(NDE1):c.704-1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2013
NM_017668.3(NDE1):c.54G>A (p.Trp18Ter)Pathogenic
NDE1-related microhydranencephaly|Lissencephaly 4
β˜†β˜†β˜†β˜†2024β†’ Residue 18
NM_017668.3(NDE1):c.-43-3548_83+622delPathogenic
NDE1-related microhydranencephaly
β˜†β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
CDC20Protein interaction100%CDK1Protein interaction99%PAFAH1B2Protein interaction98%PDE4BProtein interaction98%KIF5CProtein interaction92%TRAK1Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
76%
Lung
48%
Heart
38%
Ovary
27%
Liver
13%
Gene Interaction Network
Click a node to explore
NDE1CDC20CDK1PAFAH1B2PDE4BKIF5CTRAK1
PROTEIN STRUCTURE
Preparing viewer…
PDB7E1T Β· 2.45 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.62 [0.46–0.85]
RankingsWhere NDE1 stands among ~20K protein-coding genes
  • #4,545of 20,598
    Most Researched105 Β· top quartile
  • #2,942of 5,498
    Most Pathogenic Variants9
  • #7,387of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedNDE1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
PMID: 30287593
J Med Genet Β· 2020
1.00
2
Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.
PMID: 38194050
Acta Neuropathol Β· 2024
0.90
3
Human NDE1 splicing and mammalian brain development.
PMID: 28266585
Sci Rep Β· 2017
0.80
4
NDE1 and NDEL1 from genes to (mal)functions: parallel but distinct roles impacting on neurodevelopmental disorders and psychiatric illness.
PMID: 27742926
Cell Mol Life Sci Β· 2017
0.70
5
Nde1 promotes Lis1-mediated activation of dynein.
PMID: 37940657
Nat Commun Β· 2023
0.60