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

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, Nov 2024]
Expression: Ubiquitous expression in thymus adult (RPKM 14.2), limb E14.5 (RPKM 13.8) and 28 other tissues See more
Orthologs: human all
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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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NSUN5 is essential for proper cell proliferation and differentiation of mouse preimplantation embryos.
Title: NSUN5 is essential for proper cell proliferation and differentiation of mouse preimplantation embryos.
Mice with NOP2/sun RNA methyltransferase 5 deficiency die before reaching puberty due to fatal kidney damage.
Title: Mice with NOP2/sun RNA methyltransferase 5 deficiency die before reaching puberty due to fatal kidney damage.
RNA-methyltransferase Nsun5 controls the maternal-to-zygotic transition by regulating maternal mRNA stability.
Title: RNA-methyltransferase Nsun5 controls the maternal-to-zygotic transition by regulating maternal mRNA stability.
NSUN5 Facilitates Viral RNA Recognition by RIG-I Receptor.
Title: NSUN5 Facilitates Viral RNA Recognition by RIG-I Receptor.
These findings establish a critical role of Nsun5 in development of cerebral cortex.
Title: Expression of the RNA methyltransferase Nsun5 is essential for developing cerebral cortex.
Nsun5 knockout in mice causes decreased body weight and lean mass without alterations in food intake, as well as a trend towards reduced protein synthesis in several tissues. Together, these findings emphasize the importance of single RNA modifications for ribosome function and normal cellular and organismal physiology.
Title: Loss of the ribosomal RNA methyltransferase NSUN5 impairs global protein synthesis and normal growth.
The Nsun5 deficiency led to decreases in the number and neurite outgrowth of OPCs in the hippocampal CA1 and DG, with the decline in NG2 expression and OPCs proliferation
Title: Cognitive deficits in mice lacking Nsun5, a cytosine-5 RNA methyltransferase, with impairment of oligodendrocyte precursor cells.
mouse homologues of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome (WBSCR20; WBSCR22)
Title: Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.

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Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation
Targeted (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126841 (e-PCR)
- UniSTS:207891

NoName (e-PCR)
- UniSTS:484808

AI326939 (e-PCR)
- UniSTS:159457

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	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

Process	Evidence Code	Pubs
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
involved_in oligodendrocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of translation	ISS Inferred from Sequence or Structural Similarity more info
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
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 nucleolus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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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)

NM_001359617.1 → NP_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:95 → 375

RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
NM_145414.2 → NP_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:138 → 424

nop2p; NOL1/NOP2/sun family putative RNA methylase

cl17173
Location:219 → 422

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

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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

135398784..135405661

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

COG0144
Location:45 → 424

RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
XM_011240850.1 → XP_011239152.1 28S rRNA (cytosine-C(5))-methyltransferase isoform X1

Conserved Domains (1) summary

COG0144
Location:231 → 465

RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
XM_030254008.1 → XP_030109868.1 28S rRNA (cytosine-C(5))-methyltransferase isoform X2

Conserved Domains (1) summary

COG0144
Location:111 → 345

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

Conserved Domains (1) summary

COG0144
Location:111 → 345

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

Conserved Domains (1) summary

COG0144
Location:15 → 304

RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]