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Aliases for NSUN5 Gene

Aliases for NSUN5 Gene

  • NOP2/Sun Domain Family, Member 5 2 3
  • WBSCR20A 3 4 6
  • WBSCR20 3 4 6
  • 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
  • NOL1-Related Protein 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
  • NOP2/Sun Domain Family, Member 5A 3
  • Putative Methyltransferase NSUN5 3
  • NOP2/Sun Domain Family 2
  • P120(NOL1) 3
  • EC 2.1.1.- 4
  • Member 5A 2
  • P120 3
  • NOL1 3

External Ids for NSUN5 Gene

Previous Symbols for NSUN5 Gene

  • WBSCR20
  • WBSCR20A

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 Domain Family, Member 5) is a Protein Coding gene. Diseases associated with NSUN5 include williams-beuren syndrome. GO annotations related to this gene include RNA binding and 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSUN5 Gene

Genomics for NSUN5 Gene

Genomic Location for NSUN5 Gene

Start:
73,302,516 bp from pter
End:
73,308,867 bp from pter
Size:
6,352 bases
Orientation:
Minus strand

Genomic View for NSUN5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NSUN5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSUN5 Gene

Regulatory Elements 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

Proteomics data for NSUN5 Gene at MOPED

Post-translational modifications for NSUN5 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys22, Lys82, Lys144, Lys262, and Lys435

Other Protein References for NSUN5 Gene

No data available for DME Specific Peptides for NSUN5 Gene

Domains for NSUN5 Gene

Gene Families for NSUN5 Gene

HGNC:
  • NSUN :NOP2/Sun domain containing

Graphical View of Domain Structure for InterPro Entry

Q96P11

UniProtKB/Swiss-Prot:

NSUN5_HUMAN
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.:
    • Q96P11
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

Gene Ontology (GO) - Molecular Function for NSUN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with NSUN5: view

Phenotypes for NSUN5 Gene

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

miRNA for NSUN5 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for NSUN5 Gene

Localization for NSUN5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NSUN5 Gene COMPARTMENTS Subcellular localization image for NSUN5 gene
Compartment Confidence
cytosol 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for NSUN5 Gene

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

No data available for Pathways by source for NSUN5 Gene

Compounds for NSUN5 Gene

(1) HMDB Compounds for NSUN5 Gene

Compound Synonyms Cas Number PubMed IDs
S-Adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
29908-03-0

(1) Novoseek inferred chemical compound relationships for NSUN5 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 42.1 12
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:

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 for NSUN5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NSUN5 Gene

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.
genes like me logo Genes that share expressions with NSUN5: view

No data available for mRNA differential expression in normal tissues 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 35
  • 95.32 (n)
  • 94.74 (a)
NSUN5 36
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NSUN5 35
  • 84.57 (n)
  • 86.74 (a)
NSUN5 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NSUN5 35
  • 85.98 (n)
  • 88.41 (a)
NSUN5 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nsun5 35
  • 82.69 (n)
  • 85.13 (a)
Nsun5 16
Nsun5 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NSUN5 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 73 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Nsun5 35
  • 82.74 (n)
  • 86.67 (a)
chicken
(Gallus gallus)
Aves NSUN5 35
  • 65.9 (n)
  • 63.16 (a)
NSUN5 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSUN5 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsun5 35
  • 61.32 (n)
  • 62.72 (a)
zebrafish
(Danio rerio)
Actinopterygii nsun5 35
  • 59.04 (n)
  • 60.45 (a)
nsun5 36
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42358 36
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y53F4B.4 35
  • 46.62 (n)
  • 38.37 (a)
Y53F4B.4 36
  • 35 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL215W 35
  • 47.5 (n)
  • 39.44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 28 (a)
OneToMany
-- 38
RCM1 35
  • 42.04 (n)
  • 34.42 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E08361g 35
  • 44.92 (n)
  • 37.78 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G26180 35
  • 49.3 (n)
  • 43.42 (a)
rice
(Oryza sativa)
Liliopsida Os02g0217800 35
  • 49.56 (n)
  • 44.68 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00308 35
  • 48.92 (n)
  • 43.38 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC2C4.06c 35
  • 45.07 (n)
  • 40.14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToOne
Species with no ortholog for NSUN5:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs122825 -- 73,303,088(+) TACAC(A/G)CACTG utr-variant-3-prime, downstream-variant-500B
rs387447 -- 73,303,010(+) GAGCT(A/T)GTTTA utr-variant-3-prime, downstream-variant-500B
rs1880948 -- 73,308,984(+) TCTCT(A/G)GTTCT upstream-variant-2KB
rs2353053 -- 73,303,558(+) GTGCC(A/G)GTGCC intron-variant, utr-variant-3-prime
rs2353054 -- 73,303,583(+) AAGCA(C/T)GCCCC intron-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv2095e1 CNV Complex 17122850
nsv520573 CNV Gain+Loss 19592680
esv34349 CNV Gain 17911159
dgv2099e1 CNV Complex 17122850
nsv888362 CNV Gain 21882294
esv2734660 CNV Deletion 23290073
nsv831027 CNV Loss 17160897
dgv7324n71 CNV Gain 21882294

Relevant External Links for NSUN5 Gene

HapMap Linkage Disequilibrium report
NSUN5

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

Disorders for NSUN5 Gene

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.

(1) MalaCards Diseases for NSUN5 Gene

Search for NSUN5 Gene in MalaCards »

(2) University of Copenhagen DISEASES for NSUN5 Gene

(1) Novoseek inferred disease relationships for NSUN5 Gene

Disease -log(P) Hits PubMed IDs
ehrlichiosis 70.9 4
genes like me logo Genes that share disorders with NSUN5: view

Publications for NSUN5 Gene

  1. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. (PMID: 11978965) Doll A. … Grzeschik K.-H. (Cytogenet. Cell Genet. 2001) 2 3 4 23
  2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G. … Reymond A. (Hum. Genet. 2002) 2 3 4
  3. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for NSUN5 Gene

Sources for NSUN5 Gene

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