NDE1

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

NDE1
Identifiers
AliasesNDE1, HOM-TES-87, LIS4, MHAC, NDE, NUDE, NUDE1, nudE neurodevelopment protein 1
External IDsOMIM: 609449 MGI: 1914453 HomoloGene: 32354 GeneCards: NDE1
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16p13.11Start15,643,267 bp[1]
End15,726,353 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 16: 14.16 – 14.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical significance

Mutations in both copies of NDE1 cause microlissencephaly type 4.[8]

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.

Further reading

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.