NDE1
entrez
54820
canonical
uniprot
Q9NXR1
canonical
ensembl
ENSG00000072864
resolver
ensembl
ENSG00000275911
resolver
ensp
ENSP00000379642
resolver
ensp
ENSP00000379643
resolver
ensp
ENSP00000460436
resolver
ensp
ENSP00000644835
resolver
ensp
ENSP00000702680
resolver
ensp
ENSP00000702684
resolver
genesymbol
NDE1
resolver
genesymbol_syn
NUDE
resolver
hgnc
HGNC:17619
resolver
uniprot
Q49AQ2
resolver
uniprot
X5DP35
resolver
uniprot
X5DR54
resolver
uniprot_entry
NDE1_HUMAN
resolver
uniprot_entry
X5DP35_HUMAN
resolver
uniprot_entry
X5DR54_HUMAN
resolver
uniprot_sec
Q49AQ2
resolver
amino_acid_sequence
MEDSGKTFSSEEEEANYWKDLAMTYKQRAENTQEELREFQEGSREYEAELETQLQQIETRNRDLLSENNRLRMELETIKEKFEVQHSEGYRQISALEDDLAQTKAIKDQLQKYIRELEQANDDLERAKRATIMSLEDFEQRLNQAIERNAFLESELDEKENLLESVQRLKDEARDLRQELAVQQKQEKPRTPMPSSVEAERTDTAVQATGSVPSTPIAHRGPSSSLNTPGSFRRGLDDSTGGTPLTPAARISALNIVGDLLRKVGALESKLASCRNLVYDQSPNRTGGPASGRSSKNRDGGERRPSSTSVPLGDKGLDTSCRWLSKSTTRSSSSC
uniprot
proteins
disease_involvement
DISEASE: Lissencephaly 4 with microcephaly (LIS4) [MIM:614019]: A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability. {ECO:0000269|PubMed:21529751, ECO:0000269|PubMed:21529752}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Microhydranencephaly (MHAC) [MIM:605013]: A severe neurodevelopmental disorder characterized by microcephaly, severe motor and intellectual disability, spasticity, and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development. {ECO:0000269|PubMed:22526350}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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 postmitotic 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. Acts as a RAB9A/B effector that tethers RAB9-associated late endosomes to the dynein motor for their retrograde transport to the trans-Golgi network (PubMed:34793709). {ECO:0000269|PubMed:17600710, ECO:0000269|PubMed:21529752, ECO:0000269|PubMed:34793709}.
uniprot
proteins
mass_dalton
37721
uniprot
proteins
mutagenesis
MUTAGEN 106; /note="I->D: Loss of interaction with RAB9A. Decreased enrichment to RAB9A-associated intracellular vesicles."; /evidence="ECO:0000269|PubMed:34793709"; MUTAGEN 107; /note="K->A: Decreased interaction with RAB9A."; /evidence="ECO:0000269|PubMed:34793709"; MUTAGEN 113; /note="Y->D: Loss of interaction with RAB9A."; /evidence="ECO:0000269|PubMed:34793709"; MUTAGEN 114; /note="I->D: Loss of interaction with RAB9A. Decreased enrichment to RAB9A-associated intracellular vesicles."; /evidence="ECO:0000269|PubMed:34793709"; MUTAGEN 191; /note="T->E: Loss of centrosomal localization, reduced ZNF365-binding and loss of interaction with MCRS1; when associated with E-215; E-228; E-243; E-246 and E-282."; /evidence="ECO:0000269|PubMed:16547491, ECO:0000269|PubMed:16682949"; MUTAGEN 191; /note="T->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."; /evidence="ECO:0000269|PubMed:16682949"; MUTAGEN 215; /note="T->E: Loss of centrosomal localization, reduced ZNF365-binding and loss of interaction with MCRS1; when associated with E-191; E-228; E-243; E-246 and E-282."; /evidence="ECO:0000269|PubMed:16547491, ECO:0000269|PubMed:16682949"; MUTAGEN 215; /note="T->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."; /evidence="ECO:0000269|PubMed:16682949"; MUTAGEN 228; /note="T->E: Loss of centrosomal localization, reduced ZNF365-binding and loss of interaction with MCRS1; when associated with E-191; E-215; E-243; E-246 and E-282."; /evidence="ECO:0000269|PubMed:16547491, ECO:0000269|PubMed:16682949"; MUTAGEN 228; /note="T->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."; /evidence="ECO:0000269|PubMed:16682949"; MUTAGEN 243; /note="T->E: Loss of centrosomal localization, reduced ZNF365-binding and loss of interaction with MCRS1; when associated with E-191; E-215; E-228; E-246 and E-282."; /evidence="ECO:0000269|PubMed:16547491, ECO:0000269|PubMed:16682949"; MUTAGEN 243; /note="T->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."; /evidence="ECO:0000269|PubMed:16682949"; MUTAGEN 246; /note="T->E: Loss of centrosomal localization, reduced ZNF365-binding and loss of interaction with MCRS1; when associated with E-191; E-215; E-228; E-243 and E-282."; /evidence="ECO:0000269|PubMed:16547491, ECO:0000269|PubMed:16682949"; MUTAGEN 246; /note="T->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."; /evidence="ECO:0000269|PubMed:16682949"; MUTAGEN 282; /note="S->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."; /evidence="ECO:0000269|PubMed:16682949"; MUTAGEN 282; /note="S->E: Loss of centrosomal localization, reduced ZNF365-binding and loss of interaction with MCRS1; when associated with E-191; E-215; E-228; E-243 and E-246."; /evidence="ECO:0000269|PubMed:16547491, ECO:0000269|PubMed:16682949
uniprot
proteins
post_translational_modification
PTM: Phosphorylated in mitosis (PubMed:16682949). Phosphorylated in vitro by CDC2 (PubMed:16682949). Phosphorylation at Thr-246 is essential for the G2/M transition (By similarity). {ECO:0000250|UniProtKB:Q9CZA6, ECO:0000269|PubMed:16682949}.
uniprot
proteins
protein_family
NudE family
uniprot
proteins
pubmed
12556484
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16291865
uniprot
proteins
pubmed
16547491
uniprot
proteins
pubmed
16682949
uniprot
proteins
pubmed
17600710
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19927128
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21529751
uniprot
proteins
pubmed
21529752
uniprot
proteins
pubmed
22526350
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
34793709
uniprot
proteins
sequence_length
335
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Cleavage furrow. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:34793709}. Note=Localizes to the interphase and S phase centrosome. During mitosis, partially associated with the mitotic spindle. Concentrates at the plus ends of microtubules coincident with kinetochores in metaphase and anaphase in a CENPF-dependent manner. Also localizes to the cleavage furrow during cytokinesis. manner. Also localizes to the cleavage furrow during cytokinesis. Colocalizes with RAB9A to membrane vesicles (PubMed:34793709). {ECO:0000269|PubMed:34793709}.
uniprot
proteins