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Aliases for NSUN5 Gene

Aliases for NSUN5 Gene

  • NOP2/Sun RNA Methyltransferase Family Member 5 2 3 5
  • Williams-Beuren Syndrome Chromosomal Region 20A Protein 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
  • Probable 28S RRNA (Cytosine-C(5))-Methyltransferase 3
  • NOL1/NOP2/Sun Domain Family, Member 5 2
  • Putative Methyltransferase NSUN5 3
  • P120(NOL1) 3
  • EC 2.1.1.- 4
  • P120 3
  • NOL1 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 Family Member 5) is a Protein Coding gene. Diseases associated with NSUN5 include Williams-Beuren Syndrome and Ehrlichiosis. Gene Ontology (GO) annotations related to this gene include methyltransferase activity. An important paralog of this gene is NSUN7.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for NSUN5 Gene

Genomics for NSUN5 Gene

GeneHancer (GH) Regulatory Elements for NSUN5 Gene

Promoters and enhancers for NSUN5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I073307 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.1 134 1.8 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF766 CBX5 E2F8 NSUN5 METTL27 BAZ1B PMS2P7 NSUN5P2 STAG3L3 POM121B TYW1B PIR42430
GH07I072827 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20 +479.5 479461 4.4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 TYW1B PIR36920 SBDSP1 STAG3L3 POM121B TBL2 POM121 FKBP6 NSUN5P2 BUD23
GH07I073736 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.5 -431.9 -431858 7.8 CLOCK ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 ZNF610 GLIS1 ABHD11 GC07P073741 GC07P073742 METTL27 ABHD11-AS1 POM121B POM121 STAG3L3 NSUN5P2 TBL2
GH07I073715 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.5 -408.7 -408687 4.9 CLOCK SMAD1 FOXA2 ARNT ZFP64 ARID4B NEUROD1 SIN3A FEZF1 ZNF766 STX1A POM121B POM121 TBL2 STAG3L3 NSUN5P2 MIR590 NSUN5 PMS2P7 RFC2
GH07I074252 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.2 -946.3 -946312 4.4 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 RFC2 GC07P074254 GC07M074256 POM121B MIR590 NSUN5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NSUN5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NSUN5 gene promoter:

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)

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, isoforms=2, 3, 4, 5144, isoforms=2, 4, 5262, and isoforms=435

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

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 CatalyticActivity:
S-adenosyl-L-methionine + cytosine(3782) in 28S rRNA = S-adenosyl-L-homocysteine + C(5)-methylcytosine(3782) in 28S rRNA.
UniProtKB/Swiss-Prot Function:
S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 in 28S rRNA.

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:0008173 RNA methyltransferase activity IBA --
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity IBA --
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

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
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleus (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: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

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 --
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
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0
genes like me logo Genes that share compounds with NSUN5: view

Transcripts for NSUN5 Gene

Unigene Clusters for NSUN5 Gene

NOP2/Sun domain family, member 5:
Representative Sequences:

CRISPR Products

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
ECgene alternative splicing isoforms for
NSUN5

Expression for NSUN5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for NSUN5 Gene



Protein tissue co-expression partners for NSUN5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NSUN5 Gene:

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

Primer Products

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 33 34
  • 95.32 (n)
dog
(Canis familiaris)
Mammalia NSUN5 33 34
  • 85.98 (n)
cow
(Bos Taurus)
Mammalia NSUN5 33 34
  • 84.57 (n)
rat
(Rattus norvegicus)
Mammalia Nsun5 33
  • 82.74 (n)
mouse
(Mus musculus)
Mammalia Nsun5 33 16 34
  • 82.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NSUN5 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSUN5 33 34
  • 65.9 (n)
lizard
(Anolis carolinensis)
Reptilia NSUN5 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsun5 33
  • 61.32 (n)
zebrafish
(Danio rerio)
Actinopterygii nsun5 33 34
  • 59.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42358 34
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y53F4B.4 33
  • 46.62 (n)
Y53F4B.4 34
  • 35 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL215W 33
  • 47.5 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E08361g 33
  • 44.92 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RCM1 33 36
  • 42.04 (n)
-- 34
  • 28 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G26180 33
  • 49.3 (n)
rice
(Oryza sativa)
Liliopsida Os02g0217800 33
  • 49.56 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00308 33
  • 48.92 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC2C4.06c 33
  • 45.07 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for NSUN5 Gene

Paralogs for NSUN5 Gene

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

Pseudogenes.org Pseudogenes for NSUN5 Gene

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

Variants for NSUN5 Gene

Sequence variations from dbSNP and Humsavar for NSUN5 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1044901 -- 73,303,650(-) T/C 3_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1044904 -- 73,303,658(-) C/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1044907 -- 73,303,659(-) A/G 3_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1044909 -- 73,303,665(-) G/A 3_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs111321782 -- 73,305,957(-) C/T intron_variant

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

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

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

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

Disorders for NSUN5 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
ehrlichiosis
  • human ehrlichiosis
- 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 22 58
  2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G … Reymond A (Human genetics 2002) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58

Products for NSUN5 Gene

Sources for NSUN5 Gene

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