WBSCR22 blocking peptide

WBSCR22 Blocking Peptide (C-term)

• Gene Names: WBSCR22; WBMT; MERM1; PP3381; HUSSY-3; HASJ4442
• Synonyms: WBSCR22; WBSCR22 Blocking Peptide (C-term); Probable 18S rRNA (guanine-N(7))-methyltransferase; 211-; Bud site selection protein 23 homolog; Metastasis-related methyltransferase 1; Williams-Beuren syndrome chromosomal region 22 protein; MERM1; WBSCR22 blocking peptide

• Specificity: The synthetic peptide sequence is selected from aa 268-281 of HUMAN WBSCR22
• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 281

• Cellular Location: Nucleus. Nucleus, nucleolus. Cytoplasm. Note: Localized diffusely throughout the nucleus and the cytoplasm. Localization is not affected by glucocorticoid treatment
• Tissue Location: 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.
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for WBSCR22 blocking peptide

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).

NCBI and Uniprot Product Information

• NCBI GI #: 23199995
• NCBI GeneID: 114049
• NCBI Accession #: NP_059998.2
• NCBI GenBank Nucleotide #: NM_017528.4
• UniProt Accession #: O43709; Q96P12; Q9BQ58; Q9HBP9; A8K501; C9K060
• Molecular Weight: 33,846 Da
• NCBI Official Full Name: probable 18S rRNA (guanine-N(7))-methyltransferase isoform 2
• NCBI Official Synonym Full Names: Williams-Beuren syndrome chromosome region 22
• NCBI Official Symbol: WBSCR22
• NCBI Official Synonym Symbols: WBMT; MERM1; PP3381; HUSSY-3; HASJ4442
• NCBI Protein Information: probable 18S rRNA (guanine-N(7))-methyltransferase
• UniProt Protein Name: Probable 18S rRNA (guanine-N(7))-methyltransferase
• Protein Family: Probable 18S rRNA
• UniProt Gene Name: WBSCR22
• UniProt Synonym Gene Names: MERM1
• UniProt Entry Name: WBS22_HUMAN

NCBI Description

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]

Uniprot Description

WBSCR22: Methyltransferase that may act on DNA. 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. Belongs to the methyltransferase superfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Other Amino Acids Metabolism - selenoamino acid; Methyltransferase; Amino Acid Metabolism - histidine; Lipid Metabolism - androgen and estrogen; Amino Acid Metabolism - tyrosine; EC 2.1.1.-

Chromosomal Location of Human Ortholog: 7q11.23

Cellular Component: nucleoplasm

Biological Process: rRNA methylation