| Gene Symbol |
WBSCR22
|
| Entrez Gene |
114049
|
| Alt Symbol |
HASJ4442, HUSSY-3, MERM1, PP3381, WBMT
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Williams Beuren syndrome chromosome region 22
|
| Other Description |
Williams-Beuren candidate region putative methyltransferase|Williams-Beuren syndrome chromosomal region 22 protein|bud site selection protein 23 homolog|metastasis-related methyltransferase 1|probable 18S rRNA (guanine-N(7))-methyltransferase|ribosome biogenesis methyltransferase WBSCR22
|
| Swissprots |
Q96P12 Q9HBP9 C9K060 A8K501 O43709 Q9BQ58
|
| Accessions |
AAS07473 AAS07474 EAW69656 EAW69657 O43709 AA099700 AA508840 AF218007 AAG17249 AF412034 AAM62316 AF420248 AAL16066 AJ224442 CAA11944 AK091162 BAG52295 AK126224 AK291116 BAF83805 AK296375 BAG59049 AK309574 AK315032 BAG37517 BC000169 AAH00169 BC001780 AAH01780 BC011696 AAH11696 BG108222 BM671506 BM794274 BP280183 BQ927478 BQ930813 BQ961799 DB276687 DT220127 HQ447136 ADQ31623 XM_006715847 XP_006715910 XM_011515778 XP_011514080 XM_011515779 XP_011514081 XR_927349 XR_927350 NM_001202560 NP_001189489 NM_017528 NP_059998 NR_037776 NR_045512
|
| 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:0000269|PubMed:24086612, ECO:0000269|PubMed:24488492}.
|
| Subcellular Location |
Nucleus. Nucleus, nucleolus {ECO:0000250}. Cytoplasm. Note=Localized diffusely throughout the nucleus and the cytoplasm. Localization is not affected by glucocorticoid treatment.
|
| 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:0000269|PubMed:11978965, ECO:0000269|PubMed:12073013, ECO:0000269|PubMed:24488492}.
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