InnateDB Protein
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IDBP-20260.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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WBSCR22
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Protein Name
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Williams Beuren syndrome chromosome region 22
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000265758
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InnateDB Gene
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IDBG-20258 (WBSCR22)
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Protein Structure
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Function |
S-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:0000250, ECO:0000269PubMed:24086612, ECO:0000269PubMed:24488492}.
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Subcellular Localization |
Nucleus. Nucleus, nucleolus {ECO:0000250}. Cytoplasm. Note=Localized diffusely throughout the nucleus and the cytoplasm. Localization is not affected by glucocorticoid treatment.
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Disease Associations |
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.
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Tissue Specificity |
Widely 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:0000269PubMed:11978965, ECO:0000269PubMed:12073013, ECO:0000269PubMed:24488492}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
14
[view]
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Protein-Protein |
12
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR013216
Methyltransferase type 11
IPR022238
Uncharacterised protein family, methyltransferase, Williams-Beuren syndrome
IPR029063
S-adenosyl-L-methionine-dependent methyltransferase-like
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PFAM |
PF08241
PF12589
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O43709
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PhosphoSite |
PhosphoSite-O43709
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TrEMBL |
Q75ME3
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UniProt Splice Variant |
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Entrez Gene |
114049
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UniGene |
Hs.729489
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RefSeq |
NP_059998
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HUGO |
HGNC:16405
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OMIM |
615733
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CCDS |
CCDS5557
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HPRD |
15659
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IMGT |
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EMBL |
AC073846
AF218007
AF412034
AF420248
AJ224442
AK291116
AK315032
BC000169
BC001780
BC011696
CH471200
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GenPept |
AAG17249
AAH00169
AAH01780
AAH11696
AAL16066
AAM62316
AAS07473
AAS07474
BAF83805
BAG37517
CAA11944
EAW69657
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