Human Gene NSUN5 (ENST00000252594.10) from GENCODE V44
Description: Homo sapiens NOP2/Sun RNA methyltransferase 5 (NSUN5), transcript variant 2, mRNA. (from RefSeq NM_018044) RefSeq Summary (NM_018044): 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]. Gencode Transcript: ENST00000252594.10 Gencode Gene: ENSG00000130305.17 Transcript (Including UTRs) Position: hg38 chr7:73,303,230-73,308,806 Size: 5,577 Total Exon Count: 9 Strand: - Coding Region Position: hg38 chr7:73,303,596-73,308,790 Size: 5,195 Coding Exon Count: 9
ID:NSUN5_HUMAN DESCRIPTION: RecName: Full=Putative methyltransferase NSUN5; EC=2.1.1.-; AltName: Full=NOL1-related protein; Short=NOL1R; AltName: Full=NOL1/NOP2/Sun domain family member 5; AltName: Full=Williams-Beuren syndrome chromosomal region 20A protein; FUNCTION: May have S-adenosyl-L-methionine-dependent methyl- transferase activity (Potential). TISSUE SPECIFICITY: Ubiquitous. Detected in placenta, heart and skeletal muscle. PTM: Isoform 2 is phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: 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. SIMILARITY: Belongs to the methyltransferase superfamily. RsmB/NOP family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96P11
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
