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    Nup205 nucleoporin 205 [ Mus musculus (house mouse) ]

    Gene ID: 70699, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Nup205provided by MGI
    Official Full Name
    nucleoporin 205provided by MGI
    Primary source
    MGI:MGI:2141625
    See related
    Ensembl:ENSMUSG00000038759 AllianceGenome:MGI:2141625
    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
    mKIAA0225; 3830404O05Rik
    Summary
    Predicted to be a structural constituent of nuclear pore. Predicted to be involved in nuclear pore complex assembly. Predicted to be located in nuclear membrane and nuclear periphery. Predicted to be part of nuclear pore inner ring. Human ortholog(s) of this gene implicated in nephrotic syndrome type 13. Orthologous to human NUP205 (nucleoporin 205). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 28.2), CNS E11.5 (RPKM 14.0) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Nup205 in Genome Data Viewer
    Location:
    6 B1; 6 15.24 cM
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (35154551..35224534)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (35177616..35247599)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:34902551-34902660 Neighboring gene solute carrier family 23 member 4 Neighboring gene CCR4-NOT transcription complex, subunit 4 Neighboring gene STARR-seq mESC enhancer starr_15552 Neighboring gene STARR-positive B cell enhancer ABC_E2779 Neighboring gene predicted gene, 33046 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:35141265-35141448 Neighboring gene STARR-seq mESC enhancer starr_15553 Neighboring gene STARR-seq mESC enhancer starr_15554 Neighboring gene predicted gene, 23435 Neighboring gene STARR-seq mESC enhancer starr_15555 Neighboring gene short transmembrane mitochondrial protein 1 Neighboring gene solute carrier family 13 (sodium/sulfate symporters), member 4

    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. Impaired Spermatogenesis, Muscle, and Erythrocyte Function in U12 Intron Splicing-Defective Zrsr1 Mutant Mice. Horiuchi K, et al. Cell Rep, 2018 Apr 3. PMID 29617656
    2. Lack of periostin leads to suppression of Notch1 signaling and calcific aortic valve disease. Tkatchenko TV, et al. Physiol Genomics, 2009 Nov 6. PMID 19723774, Free PMC Article
    3. Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Aug 31. PMID 14621295
    4. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Sang L, et al. Cell, 2011 May 13. PMID 21565611, Free PMC Article
    5. Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function. Zhang T, et al. Sci Rep, 2017 Apr 5. PMID 28378742, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    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
    		  
    Process Evidence Code Pubs
    involved_in nuclear pore complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in nuclear pore organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    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 periphery ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of nuclear pore ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of nuclear pore inner ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    nuclear pore complex protein Nup205

    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_027513.1 → NP_081789.1  nuclear pore complex protein Nup205

      See identical proteins and their annotated locations for NP_081789.1

      Status: VALIDATED

      Source sequence(s)
      BC058729, BC060139, BY713599
      Consensus CDS
      CCDS57418.1
      UniProtKB/TrEMBL
      B9EJ54, Q6PDG0
      Related
      ENSMUSP00000039656.10, ENSMUST00000043815.16
      Conserved Domains (1) summary
      pfam11894
      Location:14 → 1684
      Nup192; Nuclear pore complex scaffold, nucleoporins 186/192/205

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      35154551..35224534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006506590.4 → XP_006506653.1  nuclear pore complex protein Nup205 isoform X1

      UniProtKB/TrEMBL
      Q6PDG0
      Conserved Domains (1) summary
      pfam11894
      Location:55 → 1725
      Nup192; Nuclear pore complex scaffold, nucleoporins 186/192/205

    2. XM_017321734.3 → XP_017177223.1  nuclear pore complex protein Nup205 isoform X2

      UniProtKB/TrEMBL
      Q6PDG0
      Conserved Domains (1) summary
      pfam11894
      Location:2 → 1644
      Nup192; Nuclear pore complex scaffold, nucleoporins 186/192/205

    3. XM_006506593.4 → XP_006506656.1  nuclear pore complex protein Nup205 isoform X4

      Related
      ENSMUST00000201609.4
      Conserved Domains (1) summary
      cl29134
      Location:1 → 879
      Nup192; Nuclear pore complex scaffold, nucleoporins 186/192/205

    4. XM_017321735.3 → XP_017177224.1  nuclear pore complex protein Nup205 isoform X3

      Conserved Domains (1) summary
      cl29134
      Location:16 → 945
      Nup192; Nuclear pore complex scaffold, nucleoporins 186/192/205

    RNA

    1. XR_001785168.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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