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 multipl... See more...

Aliases for NSUN5 Gene

Aliases for NSUN5 Gene

  • NOP2/Sun RNA Methyltransferase 5 2 3 5
  • Williams-Beuren Syndrome Chromosomal Region 20A Protein 3 4
  • Probable 28S RRNA (Cytosine-C(5))-Methyltransferase 3 4
  • Williams Beuren Syndrome Chromosome Region 20A 2 3
  • NOL1/NOP2/Sun Domain Family Member 5 3 4
  • NOP2/Sun Domain Family, Member 5A 2 3
  • NOP2/Sun Domain Family, Member 5 2 3
  • NOL1-Related Protein 3 4
  • WBSCR20A 3 4
  • WBSCR20 3 4
  • NSUN5A 3 4
  • NOL1R 3 4
  • Williams-Beuren Syndrome Critical Region Protein 20 Copy A 3
  • NOP2/Sun RNA Methyltransferase Family Member 5 3
  • NOL1/NOP2/Sun Domain Family, Member 5 2
  • Putative Methyltransferase NSUN5 3
  • P120(NOL1) 3
  • EC 2.1.1.- 4
  • NOL1 3
  • P120 3

External Ids for NSUN5 Gene

Previous HGNC Symbols for NSUN5 Gene

  • WBSCR20
  • WBSCR20A

Previous GeneCards Identifiers for NSUN5 Gene

  • GC07M072162
  • GC07M072355
  • GC07M072716
  • GC07M068598

Summaries for NSUN5 Gene

Entrez Gene Summary for NSUN5 Gene

  • 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]

GeneCards Summary for NSUN5 Gene

NSUN5 (NOP2/Sun RNA Methyltransferase 5) is a Protein Coding gene. Diseases associated with NSUN5 include Ehrlichiosis and Williams-Beuren Syndrome. Gene Ontology (GO) annotations related to this gene include methyltransferase activity. An important paralog of this gene is NOP2.

UniProtKB/Swiss-Prot Summary for NSUN5 Gene

  • S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 in 28S rRNA.

Gene Wiki entry for NSUN5 Gene

Additional gene information for NSUN5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NSUN5 Gene

Genomics for NSUN5 Gene

GeneHancer (GH) Regulatory Elements for NSUN5 Gene

Promoters and enhancers for NSUN5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NSUN5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NSUN5

Top Transcription factor binding sites by QIAGEN in the NSUN5 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HEN1
  • ITF-2
  • PPAR-gamma2
  • Tal-1beta

Genomic Locations for NSUN5 Gene

Genomic Locations for NSUN5 Gene
chr7:73,302,516-73,308,867
(GRCh38/hg38)
Size:
6,352 bases
Orientation:
Minus strand
chr7:72,716,514-72,722,864
(GRCh37/hg19)
Size:
6,351 bases
Orientation:
Minus strand

Genomic View for NSUN5 Gene

Genes around NSUN5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSUN5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSUN5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSUN5 Gene

Proteins for NSUN5 Gene

  • Protein details for NSUN5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96P11-NSUN5_HUMAN
    Recommended name:
    Probable 28S rRNA (cytosine-C(5))-methyltransferase
    Protein Accession:
    Q96P11
    Secondary Accessions:
    • B3KX04
    • B4DP79
    • G3V0G9
    • Q6ZUI8
    • Q96HT9
    • Q9NW70

    Protein attributes for NSUN5 Gene

    Size:
    429 amino acids
    Molecular mass:
    46692 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for NSUN5 Gene

    Alternative splice isoforms for NSUN5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NSUN5 Gene

Post-translational modifications for NSUN5 Gene

  • Ubiquitination at Lys22, Lys82, Lys144, and Lys262
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NSUN5 Gene

Domains & Families for NSUN5 Gene

Gene Families for NSUN5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NSUN5 Gene

Blocks:
  • Bacterial Sun/eukaryotic nucleolar Nop1/Nop2
  • 16S rRNA m5C967 methyltransferase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NSUN5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58598, highly similar to Homo sapiens NOL1/NOP2/Sun domain family, member 5 (NSUN5), transcript variant 1, mRNA (B4DP79_HUMAN)
  • Williams-Beuren syndrome chromosomal region 20A protein (NSUN5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96P11

UniProtKB/Swiss-Prot:

NSUN5_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
genes like me logo Genes that share domains with NSUN5: view

Function for NSUN5 Gene

Molecular function for NSUN5 Gene

UniProtKB/Swiss-Prot Function:
S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 in 28S rRNA.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cytidine(3782) in 28S rRNA + S-adenosyl-L-methionine = 5-methylcytidine(3782) in 28S rRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:47784, Rhea:RHEA-COMP:11913, Rhea:RHEA-COMP:11914, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74483, ChEBI:CHEBI:82748; Evidence=. ;.

Enzyme Numbers (IUBMB) for NSUN5 Gene

Phenotypes From GWAS Catalog for NSUN5 Gene

Gene Ontology (GO) - Molecular Function for NSUN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0008168 methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with NSUN5: view
genes like me logo Genes that share phenotypes with NSUN5: view

Animal Model Products

CRISPR Products

miRNA for NSUN5 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NSUN5

Clone Products

  • Addgene plasmids for NSUN5

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NSUN5 Gene

Localization for NSUN5 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NSUN5 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NSUN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IBA,IDA --
genes like me logo Genes that share ontologies with NSUN5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NSUN5 Gene

Pathways & Interactions for NSUN5 Gene

PathCards logo

SuperPathways for NSUN5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NSUN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing IEA --
GO:0032259 methylation IEA --
GO:0070475 rRNA base methylation IBA 21873635
genes like me logo Genes that share ontologies with NSUN5: view

No data available for Pathways by source and SIGNOR curated interactions for NSUN5 Gene

Drugs & Compounds for NSUN5 Gene

(1) Drugs for NSUN5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for NSUN5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with NSUN5: view

Transcripts for NSUN5 Gene

mRNA/cDNA for NSUN5 Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NSUN5

Clone Products

  • Addgene plasmids for NSUN5

Alternative Splicing Database (ASD) splice patterns (SP) for NSUN5 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6
SP1: - - -
SP2: -
SP3: -
SP4: - - -
SP5: -

Relevant External Links for NSUN5 Gene

GeneLoc Exon Structure for
NSUN5

Expression for NSUN5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NSUN5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NSUN5 Gene

This gene is overexpressed in Lung (34.8) and Breast (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NSUN5 Gene



Protein tissue co-expression partners for NSUN5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NSUN5

SOURCE GeneReport for Unigene cluster for NSUN5 Gene:

Hs.647060

mRNA Expression by UniProt/SwissProt for NSUN5 Gene:

Q96P11-NSUN5_HUMAN
Tissue specificity: Ubiquitous. Detected in placenta, heart and skeletal muscle.

Evidence on tissue expression from TISSUES for NSUN5 Gene

  • Lung(4.4)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with NSUN5: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NSUN5 Gene

Orthologs for NSUN5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NSUN5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NSUN5 31 30
  • 95.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NSUN5 31 30
  • 85.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NSUN5 31 30
  • 84.57 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nsun5 30
  • 82.74 (n)
mouse
(Mus musculus)
Mammalia Nsun5 17 31 30
  • 82.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NSUN5 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSUN5 31 30
  • 65.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSUN5 31
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsun5 30
  • 61.32 (n)
zebrafish
(Danio rerio)
Actinopterygii nsun5 31 30
  • 59.04 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42358 31
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y53F4B.4 30
  • 46.62 (n)
Y53F4B.4 31
  • 35 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL215W 30
  • 47.5 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E08361g 30
  • 44.92 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RCM1 33 30
  • 42.04 (n)
-- 31
  • 28 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G26180 30
  • 49.3 (n)
rice
(Oryza sativa)
Liliopsida Os02g0217800 30
  • 49.56 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00308 30
  • 48.92 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC2C4.06c 30
  • 45.07 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Species where no ortholog for NSUN5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NSUN5 Gene

ENSEMBL:
Gene Tree for NSUN5 (if available)
TreeFam:
Gene Tree for NSUN5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NSUN5: view image

Paralogs for NSUN5 Gene

Paralogs for NSUN5 Gene

(2) SIMAP similar genes for NSUN5 Gene using alignment to 2 proteins:

  • NSUN5_HUMAN
  • H7C2G6_HUMAN

Pseudogenes.org Pseudogenes for NSUN5 Gene

genes like me logo Genes that share paralogs with NSUN5: view

Variants for NSUN5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NSUN5 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs34913552 - p.Pro183Ser

Additional dbSNP identifiers (rs#s) for NSUN5 Gene

Structural Variations from Database of Genomic Variants (DGV) for NSUN5 Gene

Variant ID Type Subtype PubMed ID
dgv6466n100 CNV gain 25217958
esv2759537 CNV gain+loss 17122850
esv34349 CNV gain 17911159
nsv1161563 CNV deletion 26073780
nsv520573 CNV gain+loss 19592680
nsv831027 CNV loss 17160897
nsv970531 CNV duplication 23825009

Variation tolerance for NSUN5 Gene

Residual Variation Intolerance Score: 65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.38; 54.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NSUN5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSUN5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSUN5 Gene

Disorders for NSUN5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NSUN5 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ehrlichiosis
  • human ehrlichiosis
williams-beuren syndrome
  • wbs
bowen-conradi syndrome
  • bwcns
chromosomal deletion syndrome
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search NSUN5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NSUN5_HUMAN
  • Note=NSUN5 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

Additional Disease Information for NSUN5

genes like me logo Genes that share disorders with NSUN5: view

No data available for Genatlas for NSUN5 Gene

Publications for NSUN5 Gene

  1. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. (PMID: 11978965) Doll A … Grzeschik KH (Cytogenetics and cell genetics 2001) 2 3 4 23 54
  2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G … Reymond A (Human genetics 2002) 2 3 4 54
  3. Methylation of ribosomal RNA by NSUN5 is a conserved mechanism modulating organismal lifespan. (PMID: 25635753) Schosserer M … Grillari J (Nature communications 2015) 2 3 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for NSUN5 Gene

Sources for NSUN5 Gene