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NDE1 nudE neurodevelopment protein 1 [ Homo sapiens (human) ]

Gene ID: 54820, updated on 4-Jun-2020

Summary

Official Symbol
NDE1provided by HGNC
Official Full Name
nudE neurodevelopment protein 1provided by HGNC
Primary source
HGNC:HGNC:17619
See related
Ensembl:ENSG00000072864 MIM:609449
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NDE; LIS4; MHAC; NUDE; NUDE1; HOM-TES-87
Summary
This 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 cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Expression
Broad expression in esophagus (RPKM 68.2), prostate (RPKM 53.0) and 18 other tissues See more
Orthologs

Genomic context

See NDE1 in Genome Data Viewer
Location:
16p13.11
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (15643267..15726353)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (15737124..15820210)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene bMERB domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 9672 Neighboring gene meiosis regulator and mRNA stability factor 1 Neighboring gene microRNA 6506 Neighboring gene microRNA 484 Neighboring gene Sharpr-MPRA regulatory region 12074 Neighboring gene myosin heavy chain 11 Neighboring gene Sharpr-MPRA regulatory region 5546 Neighboring gene RNA, U6 small nuclear 213, pseudogene Neighboring gene centrosomal protein 20

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20101

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome duplication ISS
Inferred from Sequence or Structural Similarity
more info
 
centrosome localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cerebral cortex development IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromosome segregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
establishment of chromosome localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of chromosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of mitotic spindle orientation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of mitotic spindle orientation IMP
Inferred from Mutant Phenotype
more info
PubMed 
microtubule nucleation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic centrosome separation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
regulation of microtubule motor activity IEA
Inferred from Electronic Annotation
more info
 
vesicle transport along microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cleavage furrow IEA
Inferred from Electronic Annotation
more info
 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
kinesin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
spindle pole centrosome ISS
Inferred from Sequence or Structural Similarity
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
nuclear distribution protein nudE homolog 1
Names
LIS1-interacting protein NUDE1, rat homolog
epididymis secretory sperm binding protein
nudE nuclear distribution E homolog 1
nudE nuclear distribution gene E homolog 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021210.1 RefSeqGene

    Range
    5116..88087
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143979.2NP_001137451.1  nuclear distribution protein nudE homolog 1

    See identical proteins and their annotated locations for NP_001137451.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AC026401, AF001548, AK000108, BC001421, BC033900
    Consensus CDS
    CCDS10564.1
    UniProtKB/Swiss-Prot
    Q9NXR1
    UniProtKB/TrEMBL
    X5DR54
    Related
    ENSP00000379643.1, ENST00000396355.5
    Conserved Domains (2) summary
    pfam04880
    Location:134309
    NUDE_C; NUDE protein, C-terminal conserved region
    cl25732
    Location:27186
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_017668.3NP_060138.1  nuclear distribution protein nudE homolog 1

    See identical proteins and their annotated locations for NP_060138.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AF001548, BC001421
    Consensus CDS
    CCDS10564.1
    UniProtKB/Swiss-Prot
    Q9NXR1
    UniProtKB/TrEMBL
    X5DR54
    Related
    ENSP00000379642.1, ENST00000396354.6
    Conserved Domains (2) summary
    pfam04880
    Location:134309
    NUDE_C; NUDE protein, C-terminal conserved region
    cl25732
    Location:27186
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    15643267..15726353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522553.2XP_011520855.1  nuclear distribution protein nudE homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_011520855.1

    Conserved Domains (3) summary
    PRK14160
    Location:1188
    PRK14160; heat shock protein GrpE; Provisional
    pfam04880
    Location:134312
    NUDE_C; NUDE protein, C-terminal conserved region
    cl03075
    Location:34127
    GrpE; nucleotide exchange factor GrpE
  2. XM_006720897.4XP_006720960.1  nuclear distribution protein nudE homolog 1 isoform X5

    See identical proteins and their annotated locations for XP_006720960.1

    Conserved Domains (3) summary
    PRK14160
    Location:33220
    PRK14160; heat shock protein GrpE; Provisional
    pfam04880
    Location:166344
    NUDE_C; NUDE protein, C-terminal conserved region
    cl03075
    Location:66159
    GrpE; nucleotide exchange factor GrpE
  3. XM_017023351.2XP_016878840.1  nuclear distribution protein nudE homolog 1 isoform X4

    UniProtKB/TrEMBL
    X5DP35
    Conserved Domains (3) summary
    PRK14160
    Location:1188
    PRK14160; heat shock protein GrpE; Provisional
    pfam04880
    Location:134265
    NUDE_C; NUDE protein, C-terminal conserved region
    cl03075
    Location:34127
    GrpE; nucleotide exchange factor GrpE
  4. XM_017023353.2XP_016878842.1  nuclear distribution protein nudE homolog 1 isoform X6

    Conserved Domains (3) summary
    PRK14160
    Location:1188
    PRK14160; heat shock protein GrpE; Provisional
    pfam04880
    Location:134312
    NUDE_C; NUDE protein, C-terminal conserved region
    cl03075
    Location:34127
    GrpE; nucleotide exchange factor GrpE
  5. XM_017023349.2XP_016878838.1  nuclear distribution protein nudE homolog 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9NXR1
    Conserved Domains (3) summary
    PRK14160
    Location:1188
    PRK14160; heat shock protein GrpE; Provisional
    pfam04880
    Location:134312
    NUDE_C; NUDE protein, C-terminal conserved region
    cl03075
    Location:34127
    GrpE; nucleotide exchange factor GrpE
  6. XM_017023354.2XP_016878843.1  nuclear distribution protein nudE homolog 1 isoform X7

  7. XM_017023355.2XP_016878844.1  nuclear distribution protein nudE homolog 1 isoform X8

  8. XM_017023352.2XP_016878841.1  nuclear distribution protein nudE homolog 1 isoform X4

    UniProtKB/TrEMBL
    X5DP35
    Conserved Domains (3) summary
    PRK14160
    Location:1188
    PRK14160; heat shock protein GrpE; Provisional
    pfam04880
    Location:134265
    NUDE_C; NUDE protein, C-terminal conserved region
    cl03075
    Location:34127
    GrpE; nucleotide exchange factor GrpE
  9. XM_005255396.5XP_005255453.1  nuclear distribution protein nudE homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_005255453.1

    Conserved Domains (3) summary
    PRK14160
    Location:1188
    PRK14160; heat shock protein GrpE; Provisional
    pfam04880
    Location:134312
    NUDE_C; NUDE protein, C-terminal conserved region
    cl03075
    Location:34127
    GrpE; nucleotide exchange factor GrpE
  10. XM_017023350.1XP_016878839.1  nuclear distribution protein nudE homolog 1 isoform X3

  11. XM_017023356.2XP_016878845.1  nuclear distribution protein nudE homolog 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9NXR1
    Conserved Domains (3) summary
    PRK14160
    Location:1188
    PRK14160; heat shock protein GrpE; Provisional
    pfam04880
    Location:134312
    NUDE_C; NUDE protein, C-terminal conserved region
    cl03075
    Location:34127
    GrpE; nucleotide exchange factor GrpE
  12. XM_006720900.4XP_006720963.1  nuclear distribution protein nudE homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_006720963.1

    Conserved Domains (3) summary
    PRK14160
    Location:1188
    PRK14160; heat shock protein GrpE; Provisional
    pfam04880
    Location:134312
    NUDE_C; NUDE protein, C-terminal conserved region
    cl03075
    Location:34127
    GrpE; nucleotide exchange factor GrpE
  13. XM_017023357.2XP_016878846.1  nuclear distribution protein nudE homolog 1 isoform X9

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187607.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    1301393..1384364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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