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MGP005330

Record overview

MGPD IDMGP005330
Gene ID54820
SpeciesHomo sapiens (Human)
Gene NamenudE neurodevelopment protein 1
Gene Symbol NDE1
SynonymsNDE; LIS4; MHAC; NUDE; NUDE1; HOM-TES-87;
Alternate namesnuclear distribution protein nudE homolog 1; LIS1-interacting protein NUDE1, rat homolog; nudE nuclear distribution E homolog 1; nudE nuclear distribution gene E homolog 1;
Chromosome16
Map Location16p13.11
SummaryThis gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
OrthologsView orthologs and multiple alignments for NDE1

Proteins

nuclear distribution protein nudE homolog 1
Refseq ID:NP_001137451
Protein GI:221316642
UniProt ID:Q9NXR1
mRNA ID:NM_001143979
Length:335
RefSeq Status:
MEDSGKTFSSEEEEANYWKDLAMTYKQRAENTQEELREFQEGSREYEAELETQLQQIETRNRDLLSENNRLRMELETIKEKFEVQHSEGYRQISALEDDL
AQTKAIKDQLQKYIRELEQANDDLERAKRATIMSLEDFEQRLNQAIERNAFLESELDEKENLLESVQRLKDEARDLRQELAVQQKQEKPRTPMPSSVEAE
RTDTAVQATGSVPSTPIAHRGPSSSLNTPGSFRRGLDDSTGGTPLTPAARISALNIVGDLLRKVGALESKLASCRNLVYDQSPNRTGGPASGRSSKNRDG
GERRPSSTSVPLGDKGLDTSCRWLSKSTTRSSSSC
 
nuclear distribution protein nudE homolog 1
Refseq ID:NP_060138
Protein GI:8923110
UniProt ID:Q9NXR1
mRNA ID:NM_017668
Length:335
RefSeq Status:
Protein sequence is identical to GI:221316642 (mRNA isoform)
 
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