NSUN5 NOP2/Sun RNA methyltransferase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NSUN5provided by HGNC
Official Full Name: NOP2/Sun RNA methyltransferase 5provided by HGNC
Primary source: HGNC:HGNC:16385
See related: Ensembl:ENSG00000130305 MIM:615732; AllianceGenome:HGNC:16385
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NOL1; p120; NOL1R; NSUN5A; WBSCR20; WBSCR20A; p120(NOL1)
Summary: This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in bone marrow (RPKM 17.7), lymph node (RPKM 12.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (73302516..73308826, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (74502674..74508983, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (72716513..72722823, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The downregulation of NSUN5 may contribute to preeclampsiadagger.
Title: The downregulation of NSUN5 may contribute to preeclampsia†.
RNA 5-methylcytosine writer NSUN5 promotes hepatocellular carcinoma cell proliferation via a ZBED3-dependent mechanism.
Title: RNA 5-methylcytosine writer NSUN5 promotes hepatocellular carcinoma cell proliferation via a ZBED3-dependent mechanism.
CDK13 promotes lipid deposition and prostate cancer progression by stimulating NSUN5-mediated m5C modification of ACC1 mRNA.
Title: CDK13 promotes lipid deposition and prostate cancer progression by stimulating NSUN5-mediated m5C modification of ACC1 mRNA.
NSUN5-FTH1 Axis Inhibits Ferroptosis to Promote the Growth of Gastric Cancer Cells.
Title: NSUN5-FTH1 Axis Inhibits Ferroptosis to Promote the Growth of Gastric Cancer Cells.
RNA cytosine methyltransferase NSUN5 promotes protein synthesis and tumorigenic phenotypes in glioblastoma.
Title: RNA cytosine methyltransferase NSUN5 promotes protein synthesis and tumorigenic phenotypes in glioblastoma.
NSUN5 Facilitates Viral RNA Recognition by RIG-I Receptor.
Title: NSUN5 Facilitates Viral RNA Recognition by RIG-I Receptor.
Epigenetic loss of RNA-methyltransferase NSUN5 in glioma targets ribosomes to drive a stress adaptive translational program.
Title: Epigenetic loss of RNA-methyltransferase NSUN5 in glioma targets ribosomes to drive a stress adaptive translational program.
Phenotypic consequences of NSUN5 deficiency in mammalian cells include decreased proliferation and size, which can be attributed to a reduction in total protein synthesis by altered ribosomes.
Title: Loss of the ribosomal RNA methyltransferase NSUN5 impairs global protein synthesis and normal growth.
Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome
Title: Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-20883 (e-PCR)
- UniSTS:74519

STS-W72988 (e-PCR)
- UniSTS:23852

NoName (e-PCR)
- UniSTS:487216

GDB:4584996 (e-PCR)
- UniSTS:2609

RH10987 (e-PCR)
- UniSTS:40378

RH104432 (e-PCR)
- UniSTS:98757

SHGC-56093 (e-PCR)
- UniSTS:24017

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables rRNA (cytosine-C5-)-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cerebral cortex development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cognition	ISS Inferred from Sequence or Structural Similarity more info
involved_in corpus callosum development	ISS Inferred from Sequence or Structural Similarity more info
involved_in oligodendrocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of translation	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
involved_in regulation of myelination	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: 28S rRNA (cytosine-C(5))-methyltransferase

Names: NOL1-related protein; NOL1/NOP2/Sun domain family member 5; NOP2/Sun RNA methyltransferase family member 5; NOP2/Sun domain family, member 5; NOP2/Sun domain family, member 5A; Williams Beuren syndrome chromosome region 20A; Williams-Beuren syndrome chromosomal region 20A protein; Williams-Beuren syndrome critical region protein 20 copy A; probable 28S rRNA (cytosine-C(5))-methyltransferase; putative methyltransferase NSUN5

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_001168347.3 → NP_001161819.1 28S rRNA (cytosine-C(5))-methyltransferase isoform 3

See identical proteins and their annotated locations for NP_001161819.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is longer and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK126375, AK298221, BM144254, CB154882, CX866878, EC442348

Consensus CDS

CCDS55119.1

UniProtKB/TrEMBL

B2RD09

Related

ENSP00000309126.8, ENST00000310326.8

Conserved Domains (2) summary

COG0144
Location:95 → 425

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

cl17173
Location:219 → 420

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). ...
NM_001168348.3 → NP_001161820.1 28S rRNA (cytosine-C(5))-methyltransferase isoform 4

See identical proteins and their annotated locations for NP_001161820.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region and includes an alternate segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK001129, AK126375, BM144254, CB154882, CX866878, EC442348

Consensus CDS

CCDS55118.1

UniProtKB/TrEMBL

B2RD09

Related

ENSP00000393081.1, ENST00000428206.5

Conserved Domains (3) summary

COG0144
Location:29 → 387

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

cl07405
Location:77 → 114

DP_DD; Dimerization domain of DP

cl17173
Location:181 → 382

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). ...
NM_018044.5 → NP_060514.1 28S rRNA (cytosine-C(5))-methyltransferase isoform 2

See identical proteins and their annotated locations for NP_060514.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK001129, AK126375, BM144254, CB154882, CX866878, EC442348

Consensus CDS

CCDS5547.1

UniProtKB/Swiss-Prot

B3KX04, B4DP79, G3V0G9, Q6ZUI8, Q96HT9, Q96P11, Q9NW70

UniProtKB/TrEMBL

B2RD09

Related

ENSP00000252594.6, ENST00000252594.10

Conserved Domains (2) summary

COG0144
Location:95 → 425

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

cl17173
Location:219 → 420

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). ...
NM_148956.4 → NP_683759.1 28S rRNA (cytosine-C(5))-methyltransferase isoform 1

See identical proteins and their annotated locations for NP_683759.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AK126375, BC008084, BM144254, CB154882, CX866878, EC442348

Consensus CDS

CCDS5546.1

UniProtKB/TrEMBL

B2RD09

Related

ENSP00000388464.2, ENST00000438747.7

Conserved Domains (1) summary

COG0144
Location:95 → 425

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

73302516..73308826 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005277604.6 → XP_005277661.1 28S rRNA (cytosine-C(5))-methyltransferase isoform X1

Conserved Domains (2) summary

cl07405
Location:115 → 152

DP_DD; Dimerization domain of DP

cl17173
Location:219 → 254

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). ...