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Nsun5 NOL1/NOP2/Sun domain family, member 5 [ Mus musculus (house mouse) ]

Gene ID: 100609, updated on 18-Apr-2024

Summary

Official Symbol
Nsun5provided by MGI
Official Full Name
NOL1/NOP2/Sun domain family, member 5provided by MGI
Primary source
MGI:MGI:2140844
See related
Ensembl:ENSMUSG00000000916 AllianceGenome:MGI:2140844
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
Nol1r; Wbscr20; Wbscr20a; 9830109N13Rik
Summary
Enables rRNA (cytosine-C5-)-methyltransferase activity. Involved in several processes, including central nervous system development; rRNA base methylation; and regulation of myelination. Predicted to be located in nucleoplasm. Predicted to be active in nucleolus. Is expressed in several structures, including alimentary system; branchial arch; central nervous system; genitourinary system; and sensory organ. Orthologous to several human genes including NSUN5 (NOP2/Sun RNA methyltransferase 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thymus adult (RPKM 14.2), limb E14.5 (RPKM 13.8) and 28 other tissues See more
Orthologs
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Genomic context

Location:
5 G2; 5 75.16 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (135398784..135405661)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (135369930..135376805)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene FK506 binding protein 6 Neighboring gene STARR-positive B cell enhancer ABC_E9263 Neighboring gene tripartite motif-containing 50 Neighboring gene nuclear pore membrane protein 121 Neighboring gene microRNA 7033 Neighboring gene huntingtin interacting protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E10357 Neighboring gene STARR-seq mESC enhancer starr_14578 Neighboring gene predicted gene, 52790

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (5)  1 citation
  • Targeted (3) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables rRNA (cytosine-C5-)-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables rRNA (cytosine-C5-)-methyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in RNA methylation IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebral cortex development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in corpus callosum development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within methylation IEA
Inferred from Electronic Annotation
more info
 
involved_in oligodendrocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in rRNA base methylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in rRNA base methylation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within rRNA processing IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of myelination IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
28S rRNA (cytosine-C(5))-methyltransferase
Names
Williams Beuren syndrome chromosome region 20A homolog
Williams-Beuren syndrome critical region protein 20
probable 28S rRNA (cytosine-C(5))-methyltransferase
putative methyltransferase NSUN5
williams-Beuren syndrome chromosomal region 20A protein homolog

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_001359617.1NP_001346546.1  28S rRNA (cytosine-C(5))-methyltransferase isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC024608, AC074359
    Conserved Domains (1) summary
    COG0144
    Location:95375
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  2. NM_145414.2NP_663389.2  28S rRNA (cytosine-C(5))-methyltransferase isoform 1

    See identical proteins and their annotated locations for NP_663389.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK079400, AK149521
    Consensus CDS
    CCDS19740.1
    UniProtKB/Swiss-Prot
    Q3U0Q8, Q80WG3, Q8C568, Q8K4F6
    Related
    ENSMUSP00000000940.9, ENSMUST00000000940.15
    Conserved Domains (2) summary
    TIGR00446
    Location:138424
    nop2p; NOL1/NOP2/sun family putative RNA methylase
    cl17173
    Location:219422
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

RNA

  1. NR_153312.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC024608, AC074359

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_000071.7 Reference GRCm39 C57BL/6J

    Range
    135398784..135405661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036164688.1XP_036020581.1  28S rRNA (cytosine-C(5))-methyltransferase isoform X4

    Conserved Domains (1) summary
    COG0144
    Location:45424
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  2. XM_011240850.1XP_011239152.1  28S rRNA (cytosine-C(5))-methyltransferase isoform X1

    Conserved Domains (1) summary
    COG0144
    Location:231465
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  3. XM_030254008.1XP_030109868.1  28S rRNA (cytosine-C(5))-methyltransferase isoform X2

    Conserved Domains (1) summary
    COG0144
    Location:111345
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  4. XM_011240851.2XP_011239153.1  28S rRNA (cytosine-C(5))-methyltransferase isoform X2

    Conserved Domains (1) summary
    COG0144
    Location:111345
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  5. XM_006504330.2XP_006504393.1  28S rRNA (cytosine-C(5))-methyltransferase isoform X3

    Conserved Domains (1) summary
    COG0144
    Location:15304
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]

RNA

  1. XR_868550.2 RNA Sequence