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    NDEL1 nudE neurodevelopment protein 1 like 1 [ Homo sapiens (human) ]

    Gene ID: 81565, updated on 17-Jun-2024

    Summary

    Official Symbol
    NDEL1provided by HGNC
    Official Full Name
    nudE neurodevelopment protein 1 like 1provided by HGNC
    Primary source
    HGNC:HGNC:17620
    See related
    Ensembl:ENSG00000166579 MIM:607538; AllianceGenome:HGNC:17620
    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
    EOPA; NDE2; NUDEL; MITAP1; NDE1L1
    Summary
    Enables identical protein binding activity. Involved in chromosome segregation; positive regulation of GTPase activity; and regulation of intracellular protein transport. Located in kinetochore. Biomarker of schizophrenia. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 18.6), adrenal (RPKM 13.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NDEL1 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8413131..8474328)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8319371..8379912)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8339202..8371481)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:8285969-8286686 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8286687-8287404 Neighboring gene ribosomal protein L26 Neighboring gene Sharpr-MPRA regulatory region 12124 Neighboring gene ring finger protein 222 Neighboring gene Sharpr-MPRA regulatory regions 4336 and 10869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8183 Neighboring gene MPRA-validated peak2716 silencer Neighboring gene MPRA-validated peak2717 silencer Neighboring gene Sharpr-MPRA regulatory region 9669 Neighboring gene uncharacterized LOC107987245 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8390687-8391187 Neighboring gene Sharpr-MPRA regulatory region 1803 Neighboring gene myosin heavy chain 10 Neighboring gene uncharacterized LOC102724262 Neighboring gene RNA, U7 small nuclear 43 pseudogene

    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

    Clone Names

    • DKFZp451M0318

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-tubulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables beta-tubulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in central nervous system neuron axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in centrosome localization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cerebral cortex radially oriented cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of chromosome localization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in establishment of mitotic spindle orientation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inner cell mass cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lysosome localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in microtubule nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic centrosome separation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neurofilament cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron projection extension IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ruffle assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in radial glia-guided pyramidal neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in retrograde axonal transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle transport along microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon hillock IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell leading edge IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of kinesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neurofilament cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    nuclear distribution protein nudE-like 1
    Names
    endooligopeptidase A
    mitosin-associated protein 1
    mitosin-associated protein MITAP1
    nudE nuclear distribution E homolog-like 1
    nudE nuclear distribution gene E homolog-like 1
    protein Nudel

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_029963.3 RefSeqGene

      Range
      27755..60034
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001025579.3NP_001020750.1  nuclear distribution protein nudE-like 1 isoform A

      See identical proteins and their annotated locations for NP_001020750.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform A.
      Source sequence(s)
      AC026130
      Consensus CDS
      CCDS32564.1
      UniProtKB/Swiss-Prot
      Q9GZM8
      Related
      ENSP00000384963.3, ENST00000402554.7
      Conserved Domains (2) summary
      TIGR02168
      Location:24195
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam04880
      Location:135309
      NUDE_C; NUDE protein, C-terminal conserved region
    2. NM_001330129.2NP_001317058.1  nuclear distribution protein nudE-like 1 isoform C

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons in the 3' coding region, resulting in a frameshift compared to variant 1. The encoded isoform (C) is shorter than isoform A.
      Source sequence(s)
      AC026130
      Consensus CDS
      CCDS82070.1
      UniProtKB/TrEMBL
      A6NIZ0
      Related
      ENSP00000369364.4, ENST00000380025.8
      Conserved Domains (2) summary
      pfam04880
      Location:135264
      NUDE_C; NUDE protein, C-terminal conserved region
      cl25732
      Location:24195
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_030808.5NP_110435.1  nuclear distribution protein nudE-like 1 isoform B

      See identical proteins and their annotated locations for NP_110435.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, compared to variant 1. The encoded isoform (B) is longer and has a distinct C-terminus, compared to isoform A.
      Source sequence(s)
      AC026130
      Consensus CDS
      CCDS11143.1
      UniProtKB/Swiss-Prot
      B3KP93, D3DTS0, J3QT32, Q86T80, Q8TAR7, Q9GZM8, Q9UH50
      UniProtKB/TrEMBL
      B4DS41
      Related
      ENSP00000333982.7, ENST00000334527.12
      Conserved Domains (2) summary
      TIGR02168
      Location:24195
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam04880
      Location:135309
      NUDE_C; NUDE protein, C-terminal conserved region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      8413131..8474328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436861.1XP_047292817.1  nuclear distribution protein nudE-like 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KP93, D3DTS0, J3QT32, Q86T80, Q8TAR7, Q9GZM8, Q9UH50
      UniProtKB/TrEMBL
      B4DS41
    2. XM_017025183.2XP_016880672.1  nuclear distribution protein nudE-like 1 isoform X1

      UniProtKB/TrEMBL
      B4DS41
    3. XM_017025186.2XP_016880675.1  nuclear distribution protein nudE-like 1 isoform X4

      Conserved Domains (2) summary
      pfam04880
      Location:148322
      NUDE_C; NUDE protein, C-terminal conserved region
      cl03075
      Location:77163
      GrpE; nucleotide exchange factor GrpE
    4. XM_017025184.2XP_016880673.1  nuclear distribution protein nudE-like 1 isoform X2

      UniProtKB/TrEMBL
      B4DS41
    5. XM_017025188.2XP_016880677.1  nuclear distribution protein nudE-like 1 isoform X5

    6. XM_047436860.1XP_047292816.1  nuclear distribution protein nudE-like 1 isoform X2

      UniProtKB/TrEMBL
      B4DS41

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      8319371..8379912
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317448.1XP_054173423.1  nuclear distribution protein nudE-like 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KP93, D3DTS0, J3QT32, Q86T80, Q8TAR7, Q9GZM8, Q9UH50
      UniProtKB/TrEMBL
      B4DS41
    2. XM_054317445.1XP_054173420.1  nuclear distribution protein nudE-like 1 isoform X1

      UniProtKB/TrEMBL
      B4DS41
    3. XM_054317449.1XP_054173424.1  nuclear distribution protein nudE-like 1 isoform X4

    4. XM_054317446.1XP_054173421.1  nuclear distribution protein nudE-like 1 isoform X2

      UniProtKB/TrEMBL
      B4DS41
    5. XM_054317450.1XP_054173425.1  nuclear distribution protein nudE-like 1 isoform X5

    6. XM_054317447.1XP_054173422.1  nuclear distribution protein nudE-like 1 isoform X2

      UniProtKB/TrEMBL
      B4DS41