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

Gene ID: 72787, updated on 8-Feb-2024

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, Apr 2022]
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

Associated conditions

Description Tests
skeletal fusions with sterility
GeneReviews: Not available

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein-macromolecule adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables structural constituent of nuclear pore ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within homologous chromosome pairing at meiosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within mRNA transport IEA
Inferred from Electronic Annotation
more info
 
involved_in nuclear pore complex assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in nuclear pore localization ISO
Inferred from Sequence Orthology
more info
 
involved_in nuclear pore organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in nucleocytoplasmic transport NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within spermatogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in actin cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear envelope ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear membrane ISO
Inferred from Sequence Orthology
more info
 
part_of nuclear pore IDA
Inferred from Direct Assay
more info
PubMed 
part_of nuclear pore ISO
Inferred from Sequence Orthology
more info
 
part_of nuclear pore NAS
Non-traceable Author Statement
more info
PubMed 
part_of nuclear pore transmembrane ring IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 

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)