Nude Neurodevelopment Protein 1

Alternative Names

  • NDE1
  • Nude, A. Nidulans, Homolog Of, 1
  • NUDE
  • Hom-Tes-87

Associated Diseases

Lissencephaly 4
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OMIM Number

609449

NCBI Gene ID

54820

Uniprot ID

Q9NXR1

Length

83,087 bases

No. of Exons

16

No. of isoforms

2

Protein Name

Nuclear distribution protein nudE homolog 1

Molecular Mass

37721 Da

Amino Acid Count

335

Genomic Location

chr16:15,643,266-15,726,352

Gene Map Locus
16p13.11

Description

The NDE1 gene encodes a member of the nuclear distribution E (NudE) family of proteins.  The protein presents at the centrosome and interacts with other centrosome components.  This interaction is part of a multiprotein complex that regulates dynein function.  The NDE1 protein plays a vital role in microtubule organization, mitosis and neuronal migration.  Mutations in this gene cause Lissencephaly 4.

Molecular Genetics

The NDE1 gene is located on the short arm of chromosome 16, where it spans a length of about 83 Kb.  The gene consists of nine exons, of which the last exon is entirely contained within the MYH11 gene.  The NDE1 protein is made up of 346 amino acids.  Multiple isoforms exist for the protein, with a highly conserved N-terminus and more varied C-terminal regions.  The protein is capable of forming a tightly associating coiled-coil protein that facilitates both parallel dimerization and anti-parallel tetramerization.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_017668.3:c.658C>TSaudi ArabiaNC_000016.10:g.15691278C>TPathogenicPathogenicLissencephaly 4NG_021210.1:g.53012C>T; NM_017668.3:c.658C>T; NP_060138.1:p.Arg220Ter576928842159015
NM_017668.3:c.684_685delSaudi ArabiaNC_000016.10:g.15691304_15691305delPathogenicPathogenicLissencephaly 4NG_021210.1:g.53038_53039del; NM_017668.3:c.684_685del; NP_060138.1:p.Pro229TrpfsTer8575620694230787
NM_017668.3:c.733dupSaudi ArabiaNC_000016.10:g.15694194dupPathogenicPathogenicLissencephaly 4NG_021210.1:g.55928dup; NM_017668.3:c.733dup; NP_060138.1:p.Leu245ProfsTer7074976882830789
NM_017668.3:c.775delSaudi ArabiaNC_000016.10:g.15694236delPathogenicLissencephaly 4NG_021210.1:g.55970del; NM_017668.3:c.775del; NP_060138.1:p.Asp259ThrfsTer99
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