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    Ndc1 NDC1 transmembrane nucleoporin [ Mus musculus (house mouse) ]

    Gene ID: 72787, updated on 4-Jan-2025

    Summary

    Official Symbol
    Ndc1provided by MGI
    Official Full Name
    NDC1 transmembrane nucleoporinprovided by MGI
    Primary source
    MGI:MGI:1920037
    See related
    Ensembl:ENSMUSG00000028614 AllianceGenome:MGI:1920037
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    sks; Tmem48; 2810475A17Rik
    Summary
    Predicted to enable protein-macromolecule adaptor activity. Predicted to be a structural constituent of nuclear pore. Acts upstream of or within homologous chromosome pairing at meiosis and spermatogenesis. Located in cytoplasm. Part of nuclear pore. Is expressed in several structures, including forelimb bud; gonad; lung; and spleen. Orthologous to human NDC1 (NDC1 transmembrane nucleoporin). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Ubiquitous expression in placenta adult (RPKM 9.4), limb E14.5 (RPKM 9.4) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Ndc1 in Genome Data Viewer
    Location:
    4 C7; 4 50.18 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (107225244..107273543)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (107368047..107416346)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene Yip1 domain family, member 1 Neighboring gene deiodinase, iodothyronine, type I Neighboring gene replication factor C (activator 1) 5 pseudogene Neighboring gene STARR-seq mESC enhancer starr_11024 Neighboring gene STARR-positive B cell enhancer ABC_E10245 Neighboring gene GLIS family zinc finger 1 Neighboring gene RIKEN cDNA 4930552P06 gene Neighboring gene predicted gene, 52673

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (15 hits/79 screens)

    Associated conditions

    Description Tests
    skeletal fusions with sterility
    GeneReviews: Not available

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 
    • Spontaneous (1)  1 citation

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within homologous chromosome pairing at meiosis PubMed 
    involved_in mRNA transport  
    involved_in nuclear pore complex assembly  
    involved_in nuclear pore complex assembly  
    involved_in nuclear pore localization  
    involved_in nuclear pore localization  
    involved_in nuclear pore organization  
    involved_in nucleocytoplasmic transport PubMed 
    involved_in protein transport  
    acts_upstream_of_or_within spermatogenesis PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton  
    located_in actin cytoskeleton  
    located_in cytoplasm PubMed 
    located_in nuclear envelope  
    located_in nuclear membrane  
    located_in nuclear membrane  
    part_of nuclear pore PubMed 
    part_of nuclear pore  
    part_of nuclear pore PubMed 
    part_of nuclear pore transmembrane ring  
    located_in plasma membrane  
    located_in plasma membrane  

    General protein information

    Preferred Names
    nucleoporin NDC1
    Names
    transmembrane protein 48

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_028355.4NP_082631.1  nucleoporin NDC1

      See identical proteins and their annotated locations for NP_082631.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AL626784
      Consensus CDS
      CCDS18438.1
      UniProtKB/Swiss-Prot
      Q8VCB1
      Related
      ENSMUSP00000120365.2, ENSMUST00000139560.8
      Conserved Domains (1) summary
      pfam09531
      Location:21665
      Ndc1_Nup; Nucleoporin protein Ndc1-Nup

    RNA

    1. NR_165083.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL626784

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      107225244..107273543
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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