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    Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase [ Mus musculus (house mouse) ]

    Gene ID: 68501, updated on 11-Apr-2024

    Summary

    Official Symbol
    Nsmce2provided by MGI
    Official Full Name
    NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligaseprovided by MGI
    Primary source
    MGI:MGI:1915751
    See related
    Ensembl:ENSMUSG00000059586 AllianceGenome:MGI:1915751
    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
    1110014D18Rik
    Summary
    Predicted to enable SUMO ligase activity. Predicted to be involved in several processes, including DNA recombination; positive regulation of cell cycle process; and protein sumoylation. Predicted to act upstream of or within DNA recombination; DNA repair; and cell division. Predicted to be located in PML body and chromosome, telomeric region. Predicted to be part of Smc5-Smc6 complex. Predicted to be active in nucleus. Is expressed in brain; spermatocyte; and testis. Used to study Bloom syndrome. Human ortholog(s) of this gene implicated in Seckel syndrome 10. Orthologous to human NSMCE2 (NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 5.9), placenta adult (RPKM 4.5) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    15 D1; 15 25.19 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (59246047..59473538)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (59374198..59601689)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene squalene epoxidase Neighboring gene WASH complex subunit 5 Neighboring gene STARR-positive B cell enhancer ABC_E8593 Neighboring gene STARR-seq mESC enhancer starr_38785 Neighboring gene STARR-seq mESC enhancer starr_38787 Neighboring gene STARR-seq mESC enhancer starr_38788 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:59356284-59356467 Neighboring gene STARR-seq mESC enhancer starr_38791 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:59403555-59403708 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:59429020-59429203 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:59429225-59429438 Neighboring gene STARR-seq mESC enhancer starr_38794 Neighboring gene STARR-seq mESC enhancer starr_38795 Neighboring gene STARR-positive B cell enhancer ABC_E7372 Neighboring gene predicted gene, 36677 Neighboring gene STARR-seq mESC enhancer starr_38797 Neighboring gene tribbles pseudokinase 1

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (2) 
    • Targeted (2)  1 citation
    • Endonuclease-mediated (4) 

    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 SUMO ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables SUMO transferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin-protein transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular senescence ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of maintenance of mitotic sister chromatid cohesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of mitotic metaphase/anaphase transition ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein sumoylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in telomere maintenance via recombination ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in PML body ISO
    Inferred from Sequence Orthology
    more info
     
    part_of Smc5-Smc6 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Smc5-Smc6 complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    E3 SUMO-protein ligase NSE2
    Names
    E3 SUMO-protein transferase NSE2
    MMS21 homolog
    non-SMC element 2 homolog (MMS21, S. cerevisiae)
    non-structural maintenance of chromosomes element 2 homolog
    NP_001158076.1
    NP_001361697.1
    NP_081022.2
    XP_006521380.1
    XP_017172226.1
    XP_030104584.1

    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.

    mRNA and Protein(s)

    1. NM_001164604.1NP_001158076.1  E3 SUMO-protein ligase NSE2 isoform 2

      See identical proteins and their annotated locations for NP_001158076.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate exon, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK051277, BE991399, DV057668
      Consensus CDS
      CCDS49611.1
      UniProtKB/Swiss-Prot
      Q91VT1
      Related
      ENSMUSP00000128893.2, ENSMUST00000168722.3
    2. NM_001374768.1NP_001361697.1  E3 SUMO-protein ligase NSE2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC107764, AC113269, AC161172
      Consensus CDS
      CCDS88769.1
      UniProtKB/TrEMBL
      A0A2I3BS18
      Related
      ENSMUSP00000154811.2, ENSMUST00000227173.2
      Conserved Domains (1) summary
      cd16651
      Location:193262
      SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins
    3. NM_026746.3NP_081022.2  E3 SUMO-protein ligase NSE2 isoform 1

      See identical proteins and their annotated locations for NP_081022.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer variant and encodes the longer isoform (1).
      Source sequence(s)
      AK003685, AW489283, DV057668
      Consensus CDS
      CCDS27498.1
      UniProtKB/Swiss-Prot
      Q8BQ88, Q91VT1, Q9D1D3
      Related
      ENSMUSP00000078641.4, ENSMUST00000079703.11
      Conserved Domains (1) summary
      pfam11789
      Location:156216
      zf-Nse; Zinc-finger of the MIZ type in Nse subunit

    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_000081.7 Reference GRCm39 C57BL/6J

      Range
      59246047..59473538
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017316737.3XP_017172226.1  E3 SUMO-protein ligase NSE2 isoform X2

      Conserved Domains (1) summary
      cl17238
      Location:182231
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
    2. XM_030248724.2XP_030104584.1  E3 SUMO-protein ligase NSE2 isoform X3

      Conserved Domains (1) summary
      cl17238
      Location:156205
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
    3. XM_006521317.5XP_006521380.1  E3 SUMO-protein ligase NSE2 isoform X1

      Conserved Domains (1) summary
      cd16651
      Location:192261
      SPL-RING_NSE2; SPL-RING finger found in E3 SUMO-protein ligase NSE2 and similar proteins