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NDE1 Gene

protein-coding   GIFtS: 59
GCID: GC16P015745

NudE Neurodevelopment Protein 1

(Previous names: nudE nuclear distribution gene E homolog 1 (A. nidulans),...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NudE Neurodevelopment Protein 11 2     NUDE12
NUDE2 3 5     LIS1-Interacting Protein NUDE1, Rat Homolog2
LIS42 5     Nuclear Distribution Protein NudE Homolog 12
NudE Nuclear Distribution E Homolog 1 (A. Nidulans)1     NudE Nuclear Distribution E Homolog 12
NudE Nuclear Distribution Gene E Homolog 1 (A. Nidulans)1     NudE Nuclear Distribution Gene E Homolog 12
HOM-TES-872     NudE3
NDE2     MHAC5

External Ids:    HGNC: 176191   Entrez Gene: 548202   Ensembl: ENSG000000728647   OMIM: 6094495   UniProtKB: Q9NXR13   

Export aliases for NDE1 gene to outside databases

Previous GC identifers: GC16P015664 GC16P015710 GC16P015651 GC16P015739 GC16P015130 GC16P015740 GC16P015743


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NDE1 Gene:
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 mental retardation. Alternative splicing results in multiple transcript
variants. (provided by RefSeq, Mar 2012)

GeneCards Summary for NDE1 Gene:
NDE1 (nudE neurodevelopment protein 1) is a protein-coding gene. Diseases associated with NDE1 include hydranencephaly, and rhinosporidiosis. GO annotations related to this gene include microtubule binding and identical protein binding. An important paralog of this gene is NDEL1.

UniProtKB/Swiss-Prot: NDE1_HUMAN, Q9NXR1
Function: Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the
development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the
mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the
brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two
proliferative neuronal progenitors whereas parallel orientation of the division plane yields one proliferative
neuronal progenitor and a post-mitotic neuron. A premature shift towards a neuronal fate within the progenitor
population may result in an overall reduction in the final number of neurons and an increase in the number of
neurons in the deeper layers of the cortex

Gene Wiki entry for NDE1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_010393.17  NT_187607.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDE1 gene promoter:
         ISGF-3   IRF-2   Lmo2   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDE1 promoter sequence
   Search Chromatin IP Primers for NDE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDE1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.11   Ensembl cytogenetic band:  16p13.11   HGNC cytogenetic band: 16p13.11

NDE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDE1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P015745:  view genomic region     (about GC identifiers)

Start:
15,737,124 bp from pter      End:
15,820,210 bp from pter
Size:
83,087 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NDE1_HUMAN, Q9NXR1 (See protein sequence)
Recommended Name: Nuclear distribution protein nudE homolog 1  
Size: 346 amino acids; 38808 Da
Subunit: Self-associates. Interacts with CNTRL, LIS1, dynein, SLMAP and TCP1 (By similarity). Interacts with
CENPF, dynactin, tubulin gamma, PAFAH1B1, PCM1 and PCNT. Interacts with ZNF365
Secondary accessions: Q49AQ2
Alternative splicing: 2 isoforms:  Q9NXR1-1   Q9NXR1-2   

Explore the universe of human proteins at neXtProt for NDE1: NX_Q9NXR1

Explore proteomics data for NDE1 at MOPED

Post-translational modifications: 

  • Phosphorylated in mitosis. Phosphorylated in vitro by CDC2. Phosphorylation at Thr-246 is essential for the G2/M
    transition (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NDE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001137451.1  NP_060138.1  

    ENSEMBL proteins: 
     ENSP00000379643   ENSP00000379642   ENSP00000459889   ENSP00000460436   ENSP00000460996  
     ENSP00000461729   ENSP00000459875   ENSP00000459863   ENSP00000461748   ENSP00000459918  
     ENSP00000345892   ENSP00000379641  
    Reactome Protein details: Q9NXR1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR006964 NUDE_C

    Graphical View of Domain Structure for InterPro Entry Q9NXR1

    ProtoNet protein and cluster: Q9NXR1

    UniProtKB/Swiss-Prot: NDE1_HUMAN, Q9NXR1
    Similarity: Belongs to the nudE family


    NDE1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NDE1_HUMAN, Q9NXR1
    Function: Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the
    development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the
    mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the
    brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two
    proliferative neuronal progenitors whereas parallel orientation of the division plane yields one proliferative
    neuronal progenitor and a post-mitotic neuron. A premature shift towards a neuronal fate within the progenitor
    population may result in an overall reduction in the final number of neurons and an increase in the number of
    neurons in the deeper layers of the cortex

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16682949
    GO:0008017microtubule binding ISS--
    GO:0019904protein domain specific binding IEA--
    GO:0042802identical protein binding IEA--
         
    NDE1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for NDE1:
     G0/1 arrest  Increased G1 DNA content  Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nde1):
     cellular  embryogenesis  nervous system 

    NDE1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nde1tm1Caw for NDE1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NDE1
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    hsa-mir-423-3p (MIRT042463), hsa-mir-30a-5p (MIRT028581), hsa-mir-423-5p (MIRT038035), hsa-mir-99a-5p (MIRT048631), hsa-mir-151a-3p (MIRT043599), hsa-mir-92b-5p (MIRT037795), hsa-mir-296-3p (MIRT038356), hsa-mir-25-3p (MIRT050211), hsa-mir-3196 (MIRT052813), hsa-mir-769-5p (MIRT039149), hsa-mir-744-5p (MIRT037412), hsa-mir-215-5p (MIRT024682), hsa-mir-181b-5p (MIRT047227), hsa-mir-652-3p (MIRT039461), hsa-mir-192-5p (MIRT026541), hsa-mir-124-3p (MIRT022760), hsa-mir-100-5p (MIRT048448), hsa-mir-378a-3p (MIRT043877), hsa-mir-877-5p (MIRT037212)

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    SwitchGear 3'UTR luciferase reporter plasmidNDE1 3' UTR sequence
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    Sino Biological Human cDNA Clone for NDE1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDE1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NDE1_HUMAN, Q9NXR1: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
    Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Cleavage furrow. Note=Localizes to the
    interphase and S phase centrosome. During mitosis, partially associated with the mitotic spindle. Concentrates at
    the plus ends of microtubules coincident with kinetochores in metaphase and anaphase in a CENPF-dependent manner.
    Also localizes to the cleavage furrow during cytokinesis. manner. Also localizes to the cleavage furrow during
    cytokinesis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus3
    extracellular1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000776kinetochore IDA17600710
    GO:0000777condensed chromosome kinetochore IEA--
    GO:0005813centrosome IDA--
    GO:0005815microtubule organizing center ----
    GO:0005819spindle ----

    NDE1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NDE1 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of PLK1 Activity at G2/M Transition
    Recruitment of mitotic centrosome proteins and complexes0.86
    Regulation of PLK1 Activity at G2/M Transition0.77
    Loss of Nlp from mitotic centrosomes0.86
    G2/M Transition0.70
    Centrosome maturation0.86
    Mitotic G2-G2/M phases0.69
    Loss of proteins required for interphase microtubule organizationfrom the centrosome0.86
    2Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    3Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    4Mitotic Prometaphase
    Mitotic Prometaphase0.92
    Resolution of Sister Chromatid Cohesion0.92

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    Selected Reactome Pathways for NDE1 (see all 7)
        Resolution of Sister Chromatid Cohesion
    Mitotic Prometaphase
    Separation of Sister Chromatids
    Recruitment of mitotic centrosome proteins and complexes
    Loss of proteins required for interphase microtubule organization,from the centrosome



    NDE1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NDE1
    Interactions:

        GeneGlobe Interaction Network for NDE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NDE1 (Q9NXR11, 3 ENSP000003458924) via UniProtKB, MINT, STRING, and/or I2D (see all 134)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF365Q70YC51, 3, ENSP000003870914EBI-941227,EBI-941182 I2D: score=2 STRING: ENSP00000387091
    PAFAH1B1P430343, ENSP000003803784I2D: score=3 STRING: ENSP00000380378
    DYNLL1P631673, ENSP000002425774I2D: score=1 STRING: ENSP00000242577
    MAPK1P284823, ENSP000002158324I2D: score=1 STRING: ENSP00000215832
    TCP1P179873, ENSP000003173344I2D: score=1 STRING: ENSP00000317334
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000132establishment of mitotic spindle orientation IMP19468067
    GO:0000278mitotic cell cycle TAS--
    GO:0001764neuron migration IEA--
    GO:0007020microtubule nucleation IEA--

    NDE1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NDE1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NDE1 gene (2 alternative transcripts): 
    NM_001143979.1  NM_017668.2  

    Unigene Cluster for NDE1:

    NudE nuclear distribution E homolog 1 (A. nidulans)
    Hs.655378  [show with all ESTs]
    Unigene Representative Sequence: BC033900
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396355(uc010uzy.2) ENST00000396354(uc002dds.3) ENST00000570727
    ENST00000572756 ENST00000573203 ENST00000574163 ENST00000577101(uc002ddu.1)
    ENST00000574109 ENST00000573694 ENST00000576502 ENST00000572967 ENST00000572503
    ENST00000571896(uc002ddz.1) ENST00000342673 ENST00000396353(uc002ddt.1)

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      QuantiFast Probe-based Assays in human, mouse, rat NDE1

    Additional mRNA sequence: 

    AK000108.1 AK025815.1 AK091186.1 AK092997.1 AK123247.1 BC001421.2 BC033900.1 

    Selected DOTS entries (see all 26):

    DT.449883  DT.92462101  DT.91845437  DT.92462075  DT.85105239  DT.95109215  DT.97759905  DT.91790325 
    DT.112103  DT.92462084  DT.92043408  DT.92462080  DT.92462081  DT.95194449  DT.100747038  DT.40210065 
    DT.100686904  DT.407139  DT.100886298  DT.319908  DT.91688377  DT.91696392  DT.95360288  DT.101969271 

    Selected AceView cDNA sequences (see all 209):

    BQ773758 BQ059706 BM811181 BM452328 BM556954 AL710923 BM829024 BQ954645 
    AI369244 AI655649 BM713068 BM689509 BM999878 AL520690 CN480691 AI671004 
    AI669922 BE303035 BM542618 BX282472 AI693359 BM661500 BQ053148 F25843 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NDE1 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11
    SP1:                    -                 -                                                                                       
    SP2:                    -                 -                                   -     -                                             
    SP3:                                      -                                   -     -     -     -     -                           
    SP4:                                                                          -                                                   
    SP5:                                                                          -     -                                             


    ECgene alternative splicing isoforms for NDE1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NDE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NDE1 Expression
    About this image


    NDE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Mesencephalic Ventricular Zone
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Thymus (Hematopoietic System)
    NDE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDE1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655378

    UniProtKB/Swiss-Prot: NDE1_HUMAN, Q9NXR1
    Tissue specificity: Expressed in the neuroepithelium throughout the developing brain, including the cerebral
    cortex and cerebellum

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NDE1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nde11 , 5 nuclear distribution gene E homolog 1 (A nidulans)1, 5 84.5(n)1
    91.4(a)1
      16 (9.70 cM)5
    672031  NM_023317.21  NP_075806.21 
     141632755 
    chicken
    (Gallus gallus)
    Aves NDE11 nudE nuclear distribution E homolog 1 (A. nidulans) 72.65(n)
    80.45(a)
      416597  NM_001006169.1  NP_001006169.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDE16
    nudE neurodevelopment protein 1
    81(a)
    1 ↔ 1
    AAWZ02039644(548-8064)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3980672 mitotic phosphoprotein 43 74.98(n)    U95097.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nde11 nudE nuclear distribution gene E homolog 1 (A. nidulans) 62.84(n)
    65.25(a)
      566146  NM_001030203.1  NP_001025374.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nudE6
    nudE
    29(a)
    1 → many
    3L(9892341-9896065)


    ENSEMBL Gene Tree for NDE1 (if available)
    TreeFam Gene Tree for NDE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NDE1 gene
    NDEL12  
    1 SIMAP similar gene for NDE1 using alignment to 10 protein entries:     NDE1_HUMAN (see all proteins):
    NDEL1

    NDE1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for NDE1
    PGOHUM00000248363 PGOHUM00000244831


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NDE1 (see all 1381)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs580460441,2
    C--15750376(+) TATTATTA/-CTCTT 2 -- cds11Minor allele frequency- -:0.00NA 2
    rs350910231,2
    C--15753283(+) CAATC-/TTTTTT 2 -- int12Minor allele frequency- T:0.25NA 4
    rs568309631,2
    C--15755014(+) TTTTT-/TGAGTC 2 -- int10--------
    rs620369261,2
    C,F--15755305(+) CGGCCG/AAGTTT 2 -- int15Minor allele frequency- A:0.07NA WA EA 362
    rs1133821731,2
    C--15762978(+) GGTCTC/TGATCT 2 -- int10--------
    rs1389959591,2
    --15768573(+) CACACA/TATTGG 1 -- us2k10--------
    rs1499162101,2
    --15768681(+) ACTCCC/TCTCAA 1 -- us2k10--------
    rs1475883291,2
    C--15768691(+) AAATCG/TTAAGA 1 -- us2k10--------
    rs1401161431,2
    --15768844(+) AATATC/TTACTT 1 -- us2k10--------
    rs1455362961,2
    --15768935(+) ATAATC/TTTTGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NDE1 (15737124 - 15820210 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for NDE1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714015CNV Deletion23290073
    nsv435664CNV Deletion17901297
    nsv469626CNV Loss16826518
    nsv827569CNV Loss20364138
    nsv9361CNV Gain18304495
    nsv457428CNV Gain19166990
    dgv2610n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): NDE1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDE1
    DNA2.0 Custom Variant and Variant Library Synthesis for NDE1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609449   
    OMIM disorders: 614019  605013  
    UniProtKB/Swiss-Prot: NDE1_HUMAN, Q9NXR1
  • Lissencephaly 4 (LIS4) [MIM:614019]: A neurodevelopmental disorder characterized by lissencephaly, severe
    brain atrophy, extreme microcephaly, and profound mental retardation. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 16 diseases for NDE1:    
    About MalaCards
    hydranencephaly    rhinosporidiosis    lissencephaly 4    microlissencephaly
    microhydranencephaly    lissencephaly    microcephaly    mental retardation
    acute myeloid leukemia    schizophrenia    neuronitis    myeloid leukemia
    cerebritis    leukemia    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for NDE1:
    Lissencephaly     Schizophrenia

    NDE1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NDE1
    Human Genome Epidemiology (HuGE) Navigator: NDE1 (6 documents)

    Export disorders for NDE1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NDE1 gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with NDE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle. (PubMed id 12556484)1, 2, 9 Yan X.... Zhu X. (Mol. Cell. Biol. 2003)
    2. The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. (PubMed id 21529752)1, 2 Bakircioglu M.... Woods C.G. (Am. J. Hum. Genet. 2011)
    3. Human mutations in NDE1 cause extreme microcephaly with lissencephaly. (PubMed id 21529751)1, 2 Alkuraya F.S.... Walsh C.A. (Am. J. Hum. Genet. 2011)
    4. No association between the NDE1 gene and schizophrenia in the Japanese population. (PubMed id 18178387)1, 4 Numata S....Takeda M. (Schizophr. Res. 2008)
    5. Elucidating the relationship between DISC1, NDEL1 and NDE1 and the risk for schizophrenia: evidence of epistasis and competitive binding. (PubMed id 18469341)1, 4 Burdick K.E....Malhotra A.K. (Hum. Mol. Genet. 2008)
    6. Cenp-F links kinetochores to Ndel1/Nde1/Lis1/dynein microtubule motor complexes. (PubMed id 17600710)1, 2 Vergnolle M.A.S. and Taylor S.S. (Curr. Biol. 2007)
    7. Centrosomal proteins Nde1 and Su48 form a complex regulated by phosphorylation. (PubMed id 16682949)1, 2 Hirohashi Y.... Greene M.I. (Oncogene 2006)
    8. Nudel contributes to microtubule anchoring at the mother centriole and is involved in both dynein-dependent and -independent centrosomal protein assembly. (PubMed id 16291865)1, 2 Guo J.... Zhu X. (Mol. Biol. Cell 2006)
    9. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (Nature 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54820 HGNC: 17619 AceView: NDE1 Ensembl:ENSG00000072864 euGenes: HUgn54820
    ECgene: NDE1 H-InvDB: NDE1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NDE1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NDE1 gene:
    Search GeneIP for patents involving NDE1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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