Human Gene BUD23 (ENST00000265758.7) from GENCODE V44
Description: Homo sapiens BUD23 rRNA methyltransferase and ribosome maturation factor (BUD23), transcript variant 4, non-coding RNA. (from RefSeq NR_045512) RefSeq Summary (NM_017528): This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]. Gencode Transcript: ENST00000265758.7 Gencode Gene: ENSG00000071462.13 Transcript (Including UTRs) Position: hg38 chr7:73,683,597-73,698,212 Size: 14,616 Total Exon Count: 12 Strand: + Coding Region Position: hg38 chr7:73,683,626-73,697,886 Size: 14,261 Coding Exon Count: 12
ID:WBS22_HUMAN DESCRIPTION: RecName: Full=Uncharacterized methyltransferase WBSCR22; EC=2.1.1.-; AltName: Full=Williams-Beuren syndrome chromosomal region 22 protein; FUNCTION: Methyltransferase that may act on DNA. SUBCELLULAR LOCATION: Nucleus (Potential). TISSUE SPECIFICITY: Strongly expressed in heart, skeletal muscle and kidney. Also expressed in spleen, liver, lung and testis. DISEASE: Note=WBSCR22 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. Haploinsufficiency of WBSCR22 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. SIMILARITY: Belongs to the methyltransferase superfamily. SEQUENCE CAUTION: Sequence=AAG17249.1; Type=Frameshift; Positions=194, 203;
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 O43709
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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.
Protein O43709 (Reactome details) participates in the following event(s):
R-HSA-6790982 WBSCR22:TRMT112 methylates guanosine-1639 of 18S rRNA yielding 7-methylguanosine-1639 R-HSA-6790901 rRNA modification in the nucleus and cytosol R-HSA-8868773 rRNA processing in the nucleus and cytosol R-HSA-72312 rRNA processing R-HSA-8953854 Metabolism of RNA
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