NDE1

NDE1
Identifiers
Aliases	NDE1 , HOM-TES-87, LIS4, MHAC, NDE, NUDE, NUDE1, nudE neurodevelopment protein 1
External IDs	OMIM: 609449; MGI: 1914453; HomoloGene: 32354; GeneCards: NDE1; OMA:NDE1 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) [1] Band 16p13.11 Start 15,643,267 bp [1] End 15,734,691 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16|16 A1 Start 13,981,139 bp [2] End 14,010,792 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in epithelium of colon ventricular zone corpus callosum sural nerve blood monocyte ganglionic eminence bone marrow cells tonsil C1 segment Top expressed in ventricular zone epiblast maxillary prominence primitive streak mandibular prominence hand somite thymus abdominal wall interventricular septum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein domain specific binding protein binding identical protein binding microtubule binding Cellular component cytoplasm cytosol centrosome membrane spindle spindle pole centrosome synapse chromosome microtubule organizing center cleavage furrow microtubule chromosome, centromeric region cytoskeleton kinetochore kinesin complex Biological process cell differentiation centrosome duplication establishment of chromosome localization neuron migration nervous system development cell division multicellular organism development G2/M transition of mitotic cell cycle establishment of mitotic spindle orientation cerebral cortex development neuroblast proliferation cell cycle forebrain development microtubule organizing center organization sister chromatid cohesion ciliary basal body-plasma membrane docking microtubule nucleation chromosome segregation mitotic centrosome separation cell migration vesicle transport along microtubule centrosome localization regulation of G2/M transition of mitotic cell cycle Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54820 67203 Ensembl ENSG00000072864 ENSG00000275911 ENSMUSG00000022678 UniProt Q9NXR1 Q9CZA6 RefSeq (mRNA) NM_001143979 NM_017668 NM_001114085 NM_001285503 NM_001285504 NM_023317 RefSeq (protein) NP_001137451 NP_060138 NP_001107557 NP_001272432 NP_001272433 NP_075806 Location (UCSC) Chr 16: 15.64 – 15.73 Mb Chr 16: 13.98 – 14.01 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Nuclear distribution protein nudE homolog 1 is a protein that in humans is encoded by the NDE1 gene. ^{[5] [6] [7]}

Clinical significance

Mutations in NDE1 can cause severe and often fatal defects in fetal brain development. ^{[8] [9]}

References

1. ENSG00000275911 GRCh38: Ensembl release 89: ENSG00000072864, ENSG00000275911 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022678 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Kitagawa M, Umezu M, Aoki J, Koizumi H, Arai H, Inoue K (Sep 2000). "Direct association of LIS1, the lissencephaly gene product, with a mammalian homologue of a fungal nuclear distribution protein, rNUDE". FEBS Lett. 479 (1–2): 57–62. doi: 10.1016/S0014-5793(00)01856-1 . PMID   10940388.
6. Meyer G, Perez-Garcia CG, Gleeson JG (Nov 2002). "Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement". Cereb Cortex. 12 (12): 1225–36. doi: 10.1093/cercor/12.12.1225 . PMID   12427674.
7. "Entrez Gene: NDE1 nudE nuclear distribution gene E homolog 1 (A. nidulans)".
8. "OMIM Entry - # 614019 - LISSENCEPHALY 4; LIS4". omim.org. Retrieved 2019-12-10.
9. "OMIM Entry - # 605013 - MICROHYDRANENCEPHALY; MHAC". omim.org. Retrieved 2015-09-26.

Further reading

• Feng Y, Olson EC, Stukenberg PT, et al. (2001). "LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome". Neuron. 28 (3): 665–79. doi: 10.1016/S0896-6273(00)00145-8 . PMID   11163258.
• Türeci O, Sahin U, Koslowski M, et al. (2002). "A novel tumour associated leucine zipper protein targeting to sites of gene transcription and splicing". Oncogene. 21 (24): 3879–88. doi:10.1038/sj.onc.1205481. PMID   12032826. S2CID   21794594.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Yan X, Li F, Liang Y, et al. (2003). "Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle". Mol. Cell. Biol. 23 (4): 1239–50. doi:10.1128/MCB.23.4.1239-1250.2003. PMC   141156 . PMID   12556484.
• Millar JK, Christie S, Porteous DJ (2004). "Yeast two-hybrid screens implicate DISC1 in brain development and function". Biochem. Biophys. Res. Commun. 311 (4): 1019–25. doi:10.1016/j.bbrc.2003.10.101. PMID   14623284.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Jin J, Smith FD, Stark C, et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Curr. Biol. 14 (16): 1436–50. Bibcode:2004CBio...14.1436J. doi: 10.1016/j.cub.2004.07.051 . PMID   15324660.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Rush J, Moritz A, Lee KA, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101. doi:10.1038/nbt1046. PMID   15592455. S2CID   7200157.
• Martin J, Han C, Gordon LA, et al. (2005). "The sequence and analysis of duplication-rich human chromosome 16" (PDF). Nature. 432 (7020): 988–94. Bibcode:2004Natur.432..988M. doi: 10.1038/nature03187 . PMID   15616553. S2CID   4362044.
• Brandon NJ, Schurov I, Camargo LM, et al. (2005). "Subcellular targeting of DISC1 is dependent on a domain independent from the Nudel binding site". Mol. Cell. Neurosci. 28 (4): 613–24. doi:10.1016/j.mcn.2004.11.003. PMID   15797709. S2CID   28369678.
• Guo J, Yang Z, Song W, et al. (2006). "Nudel contributes to microtubule anchoring at the mother centriole and is involved in both dynein-dependent and -independent centrosomal protein assembly". Mol. Biol. Cell. 17 (2): 680–9. doi:10.1091/mbc.E05-04-0360. PMC   1356579 . PMID   16291865.
• Hirohashi Y, Wang Q, Liu Q, et al. (2006). "Centrosomal proteins Nde1 and Su48 form a complex regulated by phosphorylation". Oncogene. 25 (45): 6048–55. doi:10.1038/sj.onc.1209637. PMID   16682949. S2CID   25669587.
• Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID   16964243. S2CID   14294292.
• Hennah W, Tomppo L, Hiekkalinna T, et al. (2007). "Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1". Hum. Mol. Genet. 16 (5): 453–62. doi:10.1093/hmg/ddl462. PMID   17185386.