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Protein

Nuclear distribution protein nudE homolog 1

Gene

NDE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two proliferative neuronal progenitors whereas parallel orientation of the division plane yields one proliferative neuronal progenitor and a post-mitotic neuron. A premature shift towards a neuronal fate within the progenitor population may result in an overall reduction in the final number of neurons and an increase in the number of neurons in the deeper layers of the cortex.2 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processCell cycle, Cell division, Differentiation, Mitosis, Neurogenesis

Enzyme and pathway databases

ReactomeiR-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-68877 Mitotic Prometaphase
R-HSA-8854518 AURKA Activation by TPX2
SIGNORiQ9NXR1

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear distribution protein nudE homolog 1
Short name:
NudE
Gene namesi
Name:NDE1
Synonyms:NUDE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000072864.12
HGNCiHGNC:17619 NDE1
MIMi609449 gene
neXtProtiNX_Q9NXR1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Centromere, Chromosome, Cytoplasm, Cytoskeleton, Kinetochore, Microtubule

Pathology & Biotechi

Involvement in diseasei

Lissencephaly 4 (LIS4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound mental retardation.
See also OMIM:614019
Microhydranencephaly (MHAC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe neurodevelopmental disorder characterized by microcephaly, severe motor and mental retardation, spasticity, and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development.
See also OMIM:605013

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi191T → E: Loss of centrosomal localization and reduced ZNF365-binding; when associated with E-215; E-228; E-243; E-246 and E-282. 1 Publication1
Mutagenesisi191T → V: Retained on spindle poles during mitosis, no loss of phosphorylation in vivo and increased ZNF365-binding; when associated with V-215; V-228; V-243; V-246 and A-282. 1 Publication1
Mutagenesisi215T → E: Loss of centrosomal localization and reduced ZNF365-binding; when associated with E-191; E-228; E-243; E-246 and E-282. 1 Publication1
Mutagenesisi215T → V: Retained on spindle poles during mitosis, no loss of phosphorylation in vivo and increased ZNF365-binding; when associated with V-191; V-228; V-243; V-246 and A-282. 1 Publication1
Mutagenesisi228T → E: Loss of centrosomal localization and reduced ZNF365-binding; when associated with E-191; E-215; E-243; E-246 and E-282. 1 Publication1
Mutagenesisi228T → V: Retained on spindle poles during mitosis, no loss of phosphorylation in vivo and increased ZNF365-binding; when associated with V-191; V-215; V-243; V-246 and A-282. 1 Publication1
Mutagenesisi243T → E: Loss of centrosomal localization and reduced ZNF365-binding; when associated with E-191; E-215; E-228; E-246 and E-282. 1 Publication1
Mutagenesisi243T → V: Retained on spindle poles during mitosis, no loss of phosphorylation in vivo and increased ZNF365-binding; when associated with V-191; V-215; V-228; V-246 and A-282. 1 Publication1
Mutagenesisi246T → E: Loss of centrosomal localization and reduced ZNF365-binding; when associated with E-191; E-215; E-228; E-243 and E-282. 1 Publication1
Mutagenesisi246T → V: Retained on spindle poles during mitosis, no loss of phosphorylation in vivo and increased ZNF365-binding; when associated with V-191; V-215; V-228; V-243 and A-282. 1 Publication1
Mutagenesisi282S → A: Retained on spindle poles during mitosis, no loss of phosphorylation in vivo and increased ZNF365-binding; when associated with V-191; V-215; V-228; V-243 and V-246. 1 Publication1
Mutagenesisi282S → E: Loss of centrosomal localization and reduced ZNF365-binding; when associated with E-191; E-215; E-228; E-243 and E-246. 1 Publication1

Keywords - Diseasei

Lissencephaly

Organism-specific databases

DisGeNETi54820
MalaCardsiNDE1
MIMi605013 phenotype
614019 phenotype
OpenTargetsiENSG00000072864
Orphaneti1665 Fetal brain disruption sequence
2177 Hydranencephaly
1083 Microlissencephaly
PharmGKBiPA128394673

Polymorphism and mutation databases

BioMutaiNDE1
DMDMi108860813

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002402021 – 335Nuclear distribution protein nudE homolog 1Add BLAST335

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei211PhosphoserineCombined sources1
Modified residuei215PhosphothreonineCombined sources1
Modified residuei228PhosphothreonineCombined sources1
Modified residuei231PhosphoserineCombined sources1
Modified residuei239PhosphoserineCombined sources1
Modified residuei243PhosphothreonineCombined sources1
Modified residuei246PhosphothreonineCombined sources1
Lipidationi274S-palmitoyl cysteine; by ZDHHC2, ZDHHC3 and ZDHHC71 Publication1
Modified residuei282PhosphoserineCombined sources1
Modified residuei309PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated in mitosis. Phosphorylated in vitro by CDC2. Phosphorylation at Thr-246 is essential for the G2/M transition (By similarity).By similarity

Keywords - PTMi

Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

EPDiQ9NXR1
PaxDbiQ9NXR1
PeptideAtlasiQ9NXR1
PRIDEiQ9NXR1
ProteomicsDBi83120
83121 [Q9NXR1-2]

PTM databases

iPTMnetiQ9NXR1
PhosphoSitePlusiQ9NXR1
SwissPalmiQ9NXR1

Expressioni

Tissue specificityi

Expressed in the neuroepithelium throughout the developing brain, including the cerebral cortex and cerebellum.1 Publication

Gene expression databases

BgeeiENSG00000072864 Expressed in 210 organ(s), highest expression level in adrenal gland
CleanExiHS_NDE1
ExpressionAtlasiQ9NXR1 baseline and differential
GenevisibleiQ9NXR1 HS

Organism-specific databases

HPAiHPA024075

Interactioni

Subunit structurei

Self-associates. Interacts with CNTRL, LIS1, dynein, SLMAP and TCP1 (By similarity). Interacts with CENPF, dynactin, tubulin gamma, PAFAH1B1, PCM1 and PCNT. Interacts with ZNF365.By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ZNF365Q70YC53EBI-941227,EBI-941182

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120175, 63 interactors
IntActiQ9NXR1, 28 interactors
MINTiQ9NXR1
STRINGi9606.ENSP00000345892

Structurei

3D structure databases

ProteinModelPortaliQ9NXR1
SMRiQ9NXR1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 93Self-associationBy similarityAdd BLAST93
Regioni88 – 156Interaction with PAFAH1B1By similarityAdd BLAST69
Regioni167 – 290Interaction with CENPFBy similarityAdd BLAST124

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili18 – 188Sequence analysisAdd BLAST171

Sequence similaritiesi

Belongs to the nudE family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG1853 Eukaryota
ENOG410XPMP LUCA
GeneTreeiENSGT00390000000111
HOGENOMiHOG000280681
HOVERGENiHBG082010
InParanoidiQ9NXR1
KOiK16738
OMAiGIEMSNM
OrthoDBiEOG091G0GBV
PhylomeDBiQ9NXR1
TreeFamiTF325693

Family and domain databases

InterProiView protein in InterPro
IPR033494 NUDE
IPR006964 NUDE_dom
PANTHERiPTHR10921 PTHR10921, 1 hit
PfamiView protein in Pfam
PF04880 NUDE_C, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: Q9NXR1-2) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEDSGKTFSS EEEEANYWKD LAMTYKQRAE NTQEELREFQ EGSREYEAEL
60 70 80 90 100
ETQLQQIETR NRDLLSENNR LRMELETIKE KFEVQHSEGY RQISALEDDL
110 120 130 140 150
AQTKAIKDQL QKYIRELEQA NDDLERAKRA TIMSLEDFEQ RLNQAIERNA
160 170 180 190 200
FLESELDEKE NLLESVQRLK DEARDLRQEL AVQQKQEKPR TPMPSSVEAE
210 220 230 240 250
RTDTAVQATG SVPSTPIAHR GPSSSLNTPG SFRRGLDDST GGTPLTPAAR
260 270 280 290 300
ISALNIVGDL LRKVGALESK LASCRNLVYD QSPNRTGGPA SGRSSKNRDG
310 320 330
GERRPSSTSV PLGDKGLDTS CRWLSKSTTR SSSSC
Length:335
Mass (Da):37,721
Last modified:March 28, 2018 - v3
Checksum:iFC0BDD8BB90324B8
GO
Isoform 2 (identifier: Q9NXR1-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     318-335: DTSCRWLSKSTTRSSSSC → GKRLEFGKPPSHMSSSPLPSAQGVVKMLL

Show »
Length:346
Mass (Da):38,808
Checksum:iA681DEF652B5ACE5
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L522I3L522_HUMAN
Nuclear distribution protein nudE h...
NDE1
192Annotation score:
I3L2R9I3L2R9_HUMAN
Nuclear distribution protein nudE h...
NDE1
173Annotation score:
I3L464I3L464_HUMAN
Nuclear distribution protein nudE h...
NDE1
109Annotation score:
I3L2S8I3L2S8_HUMAN
Nuclear distribution protein nudE h...
NDE1
127Annotation score:
I3L3G9I3L3G9_HUMAN
Nuclear distribution protein nudE h...
NDE1
126Annotation score:
I3L2T8I3L2T8_HUMAN
Nuclear distribution protein nudE h...
NDE1
139Annotation score:
I3L2R3I3L2R3_HUMAN
Nuclear distribution protein nudE h...
NDE1
137Annotation score:
I3L533I3L533_HUMAN
Nuclear distribution protein nudE h...
NDE1
153Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti191T → I in AAH33900 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_059512318 – 335DTSCR…SSSSC → GKRLEFGKPPSHMSSSPLPS AQGVVKMLL in isoform 2. Add BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000108 mRNA Translation: BAA90949.1
AC026401 Genomic DNA No translation available.
AF001548 Genomic DNA No translation available.
BC001421 mRNA Translation: AAH01421.1
BC033900 mRNA Translation: AAH33900.1
CCDSiCCDS10564.1 [Q9NXR1-2]
RefSeqiNP_001137451.1, NM_001143979.1 [Q9NXR1-2]
NP_060138.1, NM_017668.2 [Q9NXR1-2]
XP_016878838.1, XM_017023349.1 [Q9NXR1-1]
XP_016878845.1, XM_017023356.1 [Q9NXR1-1]
UniGeneiHs.655378

Genome annotation databases

EnsembliENST00000396354; ENSP00000379642; ENSG00000072864 [Q9NXR1-2]
ENST00000396355; ENSP00000379643; ENSG00000072864 [Q9NXR1-2]
ENST00000631844; ENSP00000488199; ENSG00000275911 [Q9NXR1-2]
ENST00000631923; ENSP00000488050; ENSG00000275911 [Q9NXR1-2]
GeneIDi54820
KEGGihsa:54820

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiNDE1_HUMAN
AccessioniPrimary (citable) accession number: Q9NXR1
Secondary accession number(s): Q49AQ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: March 28, 2018
Last modified: September 12, 2018
This is version 148 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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