Gene/Proteome Database (LMPD)
LMPD ID
LMP002129
Gene ID
Species
Homo sapiens (Human)
Gene Name
Williams Beuren syndrome chromosome region 22
Gene Symbol
Synonyms
HASJ4442; HUSSY-3; MERM1; PP3381; WBMT
Alternate Names
probable 18S rRNA (guanine-N(7))-methyltransferase; bud site selection protein 23 homolog; metastasis-related methyltransferase 1; ribosome biogenesis methyltransferase WBSCR22; Williams-Beuren syndrome chromosomal region 22 protein; Williams-Beuren candidate region putative methyltransferase
Chromosome
7
Map Location
7q11.23
EC Number
2.1.1.-
Summary
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]
Orthologs
Proteins
| probable 18S rRNA (guanine-N(7))-methyltransferase isoform 1 | |
|---|---|
| Refseq ID | NP_001189489 |
| Protein GI | 321400149 |
| UniProt ID | O43709 |
| mRNA ID | NM_001202560 |
| Length | 298 |
| RefSeq Status | REVIEWED |
| MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDIGCGTGLSGSYLSDEGHYWVGLDISPAMLDEAVDREIEGDLLLGDMGQGIPFKPGTFDGCISISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAVLQLYPENSEQLELITTQATKAGFSGGMVVDYPNSAKAKKFYLCLFSGPSTFIPEGLSENQDEVEPRESVFTNEREGGAFERRGIRGHQTRRFPLRMSRRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRKRKPRF | |
| probable 18S rRNA (guanine-N(7))-methyltransferase isoform 2 | |
|---|---|
| Refseq ID | NP_059998 |
| Protein GI | 23199995 |
| UniProt ID | O43709 |
| mRNA ID | NM_017528 |
| Length | 281 |
| RefSeq Status | REVIEWED |
| MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDIGCGTGLSGSYLSDEGHYWVGLDISPAMLDEAVDREIEGDLLLGDMGQGIPFKPGTFDGCISISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAVLQLYPENSEQLELITTQATKAGFSGGMVVDYPNSAKAKKFYLCLFSGPSTFIPEGLSENQDEVEPRESVFTNERFPLRMSRRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRKRKPRF | |
Gene Information
Entrez Gene ID
Gene Name
Williams Beuren syndrome chromosome region 22
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005737 | IEA:UniProtKB-KW | C | cytoplasm |
| GO:0005634 | IEA:UniProtKB-KW | C | nucleus |
| GO:0008168 | NAS:UniProtKB | F | methyltransferase activity |
| GO:0044822 | IDA:UniProtKB | F | poly(A) RNA binding |
| GO:0016568 | IEA:UniProtKB-KW | P | chromatin modification |
| GO:0006364 | IEA:UniProtKB-KW | P | rRNA processing |
| GO:0006355 | IEA:UniProtKB-KW | P | regulation of transcription, DNA-templated |
| GO:0006351 | IEA:UniProtKB-KW | P | transcription, DNA-templated |
Domain Information
UniProt Annotations
Entry Information
Gene Name
Williams Beuren syndrome chromosome region 22
Protein Entry
WBS22_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=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 Activity | S-adenosyl-L-methionine + guanine in 18S rRNA = S-adenosyl-L-homocysteine + N(7)-methylguanine in 18S rRNA. |
| 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. |
| 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 |
| Induction | Up-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). |
| Ptm | May be ubiquitinated and targeted to degradation in response to proinflammatory cytokine signaling. |
| Sequence Caution | Sequence=AAG17249.1; Type=Frameshift; Positions=194, 203; Evidence= ; |
| Similarity | Belongs to the class I-like SAM-binding methyltransferase superfamily. BUD23/WBSCR22 family. |
| Subcellular Location | Nucleus. Nucleus, nucleolus . Cytoplasm. Note=Localized diffusely throughout the nucleus and the cytoplasm. Localization is not affected by glucocorticoid treatment. |
| Subunit | Interacts with GRIP1. |
| 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 |
Identical and Related Proteins
Unique RefSeq proteins for LMP002129 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 321400149 | RefSeq | NP_001189489 | 298 | probable 18S rRNA (guanine-N(7))-methyltransferase isoform 1 |
| 23199995 | RefSeq | NP_059998 | 281 | probable 18S rRNA (guanine-N(7))-methyltransferase isoform 2 |
Identical Sequences to LMP002129 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:23199995 | DBBJ | BAJ20875.1 | 281 | Williams Beuren syndrome chromosome region 22, partial [synthetic construct] |
| GI:23199995 | GenBank | ACH34114.1 | 281 | Sequence 8595 from patent US 7411051 |
| GI:23199995 | GenBank | ADQ31623.1 | 281 | Williams Beuren syndrome chromosome region 22, partial [synthetic construct] |
| GI:23199995 | GenBank | AHD77454.1 | 281 | Sequence 22587 from patent US 8586006 |
| GI:23199995 | GenBank | AIC57540.1 | 281 | WBSCR22, partial [synthetic construct] |
| GI:23199995 | RefSeq | XP_004045607.1 | 281 | PREDICTED: uncharacterized methyltransferase WBSCR22 isoform 1 [Gorilla gorilla gorilla] |
| GI:321400149 | RefSeq | XP_004045608.1 | 298 | PREDICTED: uncharacterized methyltransferase WBSCR22 isoform 2 [Gorilla gorilla gorilla] |
Related Sequences to LMP002129 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:321400149 | DBBJ | BAF83805.1 | 281 | unnamed protein product [Homo sapiens] |
| GI:321400149 | DBBJ | BAG37517.1 | 281 | unnamed protein product [Homo sapiens] |
| GI:321400149 | GenBank | EAW69657.1 | 281 | Williams Beuren syndrome chromosome region 22, isoform CRA_b [Homo sapiens] |
| GI:23199995 | GenBank | ACC26981.1 | 281 | Sequence 54 from patent US 7344861 |
| GI:321400149 | GenBank | ACE23363.1 | 281 | Sequence 8595 from patent US 7368531 |
| GI:321400149 | GenBank | ACH34114.1 | 281 | Sequence 8595 from patent US 7411051 |
| GI:23199995 | GenBank | JAA11043.1 | 281 | Williams Beuren syndrome chromosome region 22 [Pan troglodytes] |
| GI:23199995 | GenBank | JAA11044.1 | 281 | Williams Beuren syndrome chromosome region 22 [Pan troglodytes] |
| GI:23199995 | GenBank | JAA11046.1 | 281 | Williams Beuren syndrome chromosome region 22 [Pan troglodytes] |
| GI:23199995 | GenBank | JAA11047.1 | 281 | Williams Beuren syndrome chromosome region 22 [Pan troglodytes] |
| GI:23199995 | GenBank | JAA30255.1 | 281 | Williams Beuren syndrome chromosome region 22 [Pan troglodytes] |
| GI:321400149 | SwissProt | O43709.2 | 281 | RecName: Full=Probable 18S rRNA (guanine-N(7))-methyltransferase; AltName: Full=Bud site selection protein 23 homolog; AltName: Full=Metastasis-related methyltransferase 1; AltName: Full=Williams-Beuren syndrome chromosomal region 22 protein [Homo sapiens] |