NDE1
Nuclear distribution protein nudE homolog 1
Also known as: FLJ20101, NDE, NDE1_HUMAN, nudE
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NXR1
- Gene
- NDE1
- Ensembl
- ENSG00000072864
- Chromosome
- 16
- Canonical length
- 335 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Canonical amino-acid sequenceUniProt
335 residues, UniProt reviewed canonical sequence.
>Q9NXR1|NDE1
1 MEDSGKTFSS EEEEANYWKD LAMTYKQRAE NTQEELREFQ EGSREYEAEL ETQLQQIETR
61 NRDLLSENNR LRMELETIKE KFEVQHSEGY RQISALEDDL AQTKAIKDQL QKYIRELEQA
121 NDDLERAKRA TIMSLEDFEQ RLNQAIERNA FLESELDEKE NLLESVQRLK DEARDLRQEL
181 AVQQKQEKPR TPMPSSVEAE RTDTAVQATG SVPSTPIAHR GPSSSLNTPG SFRRGLDDST
241 GGTPLTPAAR ISALNIVGDL LRKVGALESK LASCRNLVYD QSPNRTGGPA SGRSSKNRDG
301 GERRPSSTSV PLGDKGLDTS CRWLSKSTTR SSSSCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NDE1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.57
- Highest tissue expression
- 35 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 35 nTPM
- skin: 29 nTPM
- bone marrow: 24 nTPM
- thymus: 22 nTPM
- colon: 22 nTPM
- vagina: 20 nTPM
Single-cell type
- oligodendrocytes: 161 nCPM
- ependymal cells: 64 nCPM
- microglia: 40 nCPM
- podocytes: 28 nCPM
- choroid plexus epithelial cells: 27 nCPM
- papillary tip epithelial cells: 24 nCPM
Immune cell
- neutrophil: 22 nTPM
- eosinophil: 15 nTPM
- non-classical monocyte: 12 nTPM
- NK-cell: 8.6 nTPM
- basophil: 5.2 nTPM
- classical monocyte: 4.7 nTPM
Brain region
- white matter: 84 nTPM
- medulla oblongata: 61 nTPM
- pons: 51 nTPM
- midbrain: 48 nTPM
- basal ganglia: 46 nTPM
- cerebellum: 45 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NDE1.
Disease | AllUniProt
Conditions NDE1 is implicated in, by any mechanism.
- Lissencephaly 4 with microcephaly (LIS4) MIM:614019
- Microhydranencephaly (MHAC) MIM:605013
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 262 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Lissencephaly 4
- NDE1-related microhydranencephaly
- NDE1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.69
- gnomAD pLI
- 0.01
- gnomAD missense Z
- -1.13
- DepMap mean gene effect
- -0.37
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell division
- cell migration
- centrosome duplication
- centrosome localization
- cerebral cortex development
- chromosome localization
- chromosome segregation
- establishment of mitotic spindle orientation
- microtubule nucleation
- mitotic centrosome separation
- neuroblast proliferation
- neuron migration
- vesicle transport along microtubule
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NDE1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NDE1 as an antibody target. Whether an autoantibody or antibody against NDE1 could matter depends on whether native NDE1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NDE1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NDE1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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