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

Gene ID: 54820, updated on 17-Jun-2019

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
109.20190607 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 FGFR1OP N-terminal like

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • AURKA Activation by TPX2, organism-specific biosystem (from REACTOME)
    AURKA Activation by TPX2, organism-specific biosystemTPX2 binds to aurora kinase A (AURKA) at centrosomes and promotes its activation by facilitating AURKA active conformation and autophosphorylation of the AURKA threonine residue T288 (Bayliss et al. ...
  • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
    Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Centrosome maturation, organism-specific biosystem (from REACTOME)
    Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • G2/M Transition, organism-specific biosystem (from REACTOME)
    G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
  • Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
    Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
  • Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystem (from REACTOME)
    Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
    Mitotic G2-G2/M phases, organism-specific biosystem
    Mitotic G2-G2/M phases
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
    Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
  • Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
    Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemThe kinase activity of PLK1 is required for cell cycle progression as PLK1 phosphorylates and regulates a number of cellular proteins during mitosis. Centrosomic AURKA (Aurora A kinase), catalyticall...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

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
    5001..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 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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