Nuclear distribution protein nudE homolog 1 (NDE1)
The protein contains 346 amino acids for an estimated molecular weight of 38808 Da.
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. (updated: April 1, 2015)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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Biological Process
Cell differentiation
Cell division
Cell migration
Centrosome duplication
Centrosome localization
Cerebral cortex development
Chromosome segregation
Ciliary basal body-plasma membrane docking
Establishment of chromosome localization
Establishment of mitotic spindle orientation
G2/M transition of mitotic cell cycle
Microtubule nucleation
Mitotic cell cycle
Mitotic centrosome separation
Mitotic spindle organization
Neuroblast proliferation
Neuron migration
Organelle organization
Regulation of G2/M transition of mitotic cell cycle
Regulation of microtubule motor activity
Sister chromatid cohesion
Vesicle transport along microtubule
The reference OMIM entry for this protein is 605013
Microhydranencephaly; mhac
Hydranencephaly and microcephaly
A number sign (#) is used with this entry because of evidence that microhydranencephaly (MHAC) is caused by homozygous mutation in the NDE1 gene (609449) on chromosome 16p13. One such family has been reported. Mutation in the NDE1 gene can also cause lissencephaly-4 (LIS4; 614019).
DESCRIPTION
Microhydranencephaly (MHAC) is a severe neurodevelopmental defect characterized by extreme microcephaly, profound motor and mental retardation, spasticity, and incomplete cerebral formation. Radiologic studies show gross dilation of the ventricles resulting from the absence of cerebral hemispheres or severe delay in their development, as well as hypoplasia of the corpus callosum, cerebellum, and brainstem (summary by Guven et al., 2012).CLINICAL FEATURES
Kavaslar et al. (2000) reported a large consanguineous Anatolian (Turkish) family with children who had the unusual association of microcephaly and hydranencephaly. In addition, the affected children had severe mental and motor retardation, very small body size, and very small occipitofrontal circumference (OFC). The youngest patient, 4.5 years of age at the time of study, had a height corresponding to a sex mean of 7 months, weight to 1 month, and OFC to prenatal. Guven et al. (2012) reported follow-up of 2 surviving affected female cousins from the family reported by Kavaslar et al. (2000). The patients were 17 and 19 years of age, respectively. Both had thin bones, prominent nasal bridges, poor overall growth, and severe microcephaly (-11.1 and -7.8 SD, respectively). They had severe mental and motor retardation, could sit with support, did not have real eye contact, and had poor social interaction. Neurologic examination showed atrophic optic fundi, poor head control, automutilation of hands, tetraparesis, contractures of the knees, and generalized muscle atrophy. Brain MRI showed residues of cerebral cortical regions, but frontal lobes and the corpus callosum could not be distinguished. The cerebellum, vermis, and brainstem were hypoplastic. Pachygyria was also apparent in 1 patient. Both had notable scalp rugae. Alexander et al. (1995) reported 2 female sibs with fetal brain disruption sequence. Clinical findings included large size at birth with a disproportionately small head circumference and scalp rugae. The degree of microcephaly became more marked with time. Cranial CT scan in both infants revealed gross dilation of the ventricles, almost complete absence of the cerebral hemispheres with a well-formed falx, and a small cerebellum. Elevated semiquantitative mucopolysaccharide levels were consistently obtained from both children, and high resolution electrophoresis revealed an unidentified metabolite and a pattern not consistent with any known mucopolysaccharidosis. Alexander et al. (1995) proposed that accumulation of a neurotoxic metabolite might be responsible for the disease phenotype. Schram et al. (2004) reported 2 sibships with fetal brain degeneration resembling fetal brain disruption sequence: 2 brothers in a Hindu family from Suriname, and a Dutch brother and sister. All of the children had low birth weight, microcephaly, overlapping sutures, and scalp rugae. CT scans of their brains showed severely underdeveloped cerebral hemispheres surrounded by a large amount of cerebrospinal fluid. The authors noted that true hydranencephaly was not present in these cases, but questioned whether a strict delineation between hydranencephaly and fetal brain disruption ... More on the omim web site
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 605013 was added.