LMPD Database

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LMP002129

UniProt Annotations

Entry Information
Gene NameWilliams Beuren syndrome chromosome region 22
Protein EntryWBS22_HUMAN
UniProt IDO43709
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=O43709-1; Sequence=Displayed; Name=2; IsoId=O43709-2; Sequence=VSP_011511; Note=No experimental confirmation available.; Name=3; IsoId=O43709-3; Sequence=VSP_054762; Note=No experimental confirmation available. Gene prediction based on EST data.;
Catalytic ActivityS-adenosyl-L-methionine + guanine in 18S rRNA = S-adenosyl-L-homocysteine + N(7)-methylguanine in 18S rRNA.
DiseaseNote=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.
FunctionS-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (By similarity). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity. Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors. Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements. Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492). {ECO
InductionUp-regulated in CD8+ T lymphocytes by treatment with anti-CD3 and in B lymphocytes by treatment with CD40 ligand and anti-B cell receptor antibody. In macrophages, no induction following LPS treatment. Down-regulated by a combined treatment with TNF and IFNG (at protein level).
PtmMay be ubiquitinated and targeted to degradation in response to proinflammatory cytokine signaling.
Sequence CautionSequence=AAG17249.1; Type=Frameshift; Positions=194, 203; Evidence= ;
SimilarityBelongs to the class I-like SAM-binding methyltransferase superfamily. BUD23/WBSCR22 family.
Subcellular LocationNucleus. Nucleus, nucleolus . Cytoplasm. Note=Localized diffusely throughout the nucleus and the cytoplasm. Localization is not affected by glucocorticoid treatment.
SubunitInteracts with GRIP1.
Tissue SpecificityWidely expressed, with high levels in heart, skeletal muscle and kidney. Detected at high levels in bronchial brushings and in normal lung (at protein level). In fetal lung tissue, expressed in the developing bronchial lumen lining cells (at protein level). Tends to be down-regulated in lungs affected by inflammatory diseases or neoplasia (at protein level). Expressed in immune cells, including B and T lymphocytes and macrophages. {ECO