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Nup107 nucleoporin 107 [ Mus musculus (house mouse) ]

Gene ID: 103468, updated on 2-Nov-2024

Summary

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Official Symbol
Nup107provided by MGI
Official Full Name
nucleoporin 107provided by MGI
Primary source
MGI:MGI:2143854
See related
Ensembl:ENSMUSG00000052798 AllianceGenome:MGI:2143854
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
Summary
Predicted to be a structural constituent of nuclear pore. Predicted to be involved in several processes, including nuclear pore complex assembly; nucleocytoplasmic transport; and post-transcriptional tethering of RNA polymerase II gene DNA at nuclear periphery. Predicted to be located in nuclear membrane and nuclear periphery. Predicted to be part of nuclear pore outer ring. Predicted to colocalize with kinetochore. Is expressed in embryo and neural tube. Human ortholog(s) of this gene implicated in Galloway-Mowat syndrome; nephrotic syndrome type 11; and ovarian dysgenesis 6. Orthologous to human NUP107 (nucleoporin 107). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in CNS E11.5 (RPKM 27.0), placenta adult (RPKM 18.7) and 22 other tissues See more
Orthologs
human all
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Genomic context

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See Nup107 in Genome Data Viewer
Location:
10 D2; 10 66.32 cM
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (117586526..117628607, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (117750621..117792736, complement)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 53636 Neighboring gene solute carrier family 35, member E3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:117192156-117192497 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:117229949-117230058 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:117235617-117235851 Neighboring gene STARR-seq mESC enhancer starr_28002 Neighboring gene STARR-positive B cell enhancer ABC_E10647 Neighboring gene RAS related protein 1b Neighboring gene STARR-positive B cell enhancer mm9_chr10:117273422-117273722 Neighboring gene predicted gene, 53637 Neighboring gene STARR-positive B cell enhancer ABC_E9807 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:117298174-117298357 Neighboring gene predicted gene, 40773 Neighboring gene predicted gene, 32552

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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

Bibliography

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Related articles in PubMed

  1. TorsinA is essential for neuronal nuclear pore complex localization and maturation. Kim S, et al. Nat Cell Biol, 2024 Sep. PMID 39117796
  2. Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency. Ren Y, et al. Mol Genet Genomic Med, 2018 Mar. PMID 29363275, Free PMC Article
  3. Nucleoporin 107, 62 and 153 mediate Kcnq1ot1 imprinted domain regulation in extraembryonic endoderm stem cells. Sachani SS, et al. Nat Commun, 2018 Jul 18. PMID 30022050, Free PMC Article
  4. Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns. Olthof AM, et al. Nucleic Acids Res, 2021 Apr 6. PMID 33660780, Free PMC Article
  5. A molecular mechanism underlying the neural-specific defect in torsinA mutant mice. Kim CE, et al. Proc Natl Acad Sci U S A, 2010 May 25. PMID 20457914, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Nucleoporins 107, 62 and 153 mediate Kcnq1ot1 imprinted domain regulation in extraembryonic endoderm stem cells.
    Title: Nucleoporin 107, 62 and 153 mediate Kcnq1ot1 imprinted domain regulation in extraembryonic endoderm stem cells.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables structural constituent of nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
  
enables structural constituent of nuclear pore ISO
Inferred from Sequence Orthology
more info
  
enables structural constituent of nuclear pore ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in female gonad development IEA
Inferred from Electronic Annotation
more info
  
involved_in female gonad development ISO
Inferred from Sequence Orthology
more info
  
involved_in mRNA export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mRNA export from nucleus IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA export from nucleus ISO
Inferred from Sequence Orthology
more info
  
involved_in nephron development ISO
Inferred from Sequence Orthology
more info
  
involved_in nephron development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in nuclear pore complex assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in nuclear pore complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in nucleocytoplasmic transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in post-transcriptional tethering of RNA polymerase II gene DNA at nuclear periphery IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
colocalizes_with kinetochore ISO
Inferred from Sequence Orthology
more info
  
colocalizes_with kinetochore ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nuclear envelope ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear membrane ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nuclear periphery ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear periphery ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of nuclear pore ISO
Inferred from Sequence Orthology
more info
  
part_of nuclear pore ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of nuclear pore NAS
Non-traceable Author Statement
more info
 PubMed 
part_of nuclear pore outer ring IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of nuclear pore outer ring ISO
Inferred from Sequence Orthology
more info
  
part_of nuclear pore outer ring ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
nuclear pore complex protein Nup107
Names
107 kDa nucleoporin
nucleoporin Nup107

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_001418949.1 → NP_001405878.1  nuclear pore complex protein Nup107 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC135019

  2. NM_001418950.1 → NP_001405879.1  nuclear pore complex protein Nup107 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC135019

  3. NM_134010.3 → NP_598771.1  nuclear pore complex protein Nup107 isoform 1

    See identical proteins and their annotated locations for NP_598771.1

    Status: VALIDATED

    Source sequence(s)
    AC135019
    Consensus CDS
    CCDS36068.1
    UniProtKB/Swiss-Prot
    Q8BH74, Q99KH5
    UniProtKB/TrEMBL
    Q569X8
    Related
    ENSMUSP00000063590.6, ENSMUST00000064848.7
    Conserved Domains (1) summary
    pfam04121
    Location:210 → 909
    Nup84_Nup100; Nuclear pore protein 84 / 107

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_000076.7 Reference GRCm39 C57BL/6J

    Range
    117586526..117628607 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BH74.1 GenPept UniProtKB/Swiss-Prot:Q8BH74

Gene LinkOut

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