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Protein

Probable 18S rRNA (guanine-N(7))-methyltransferase

Gene

WBSCR22

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N7 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).By similarity2 Publications

Catalytic activityi

S-adenosyl-L-methionine + guanine in 18S rRNA = S-adenosyl-L-homocysteine + N(7)-methylguanine in 18S rRNA.

GO - Molecular functioni

  • methyltransferase activity Source: UniProtKB
  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator, Methyltransferase, Transferase

Keywords - Biological processi

Ribosome biogenesis, rRNA processing, Transcription, Transcription regulation

Keywords - Ligandi

S-adenosyl-L-methionine

Enzyme and pathway databases

BioCyciZFISH:ENSG00000071462-MONOMER.
ReactomeiR-HSA-6790901. rRNA modification in the nucleus and cytosol.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable 18S rRNA (guanine-N(7))-methyltransferase (EC:2.1.1.-)
Alternative name(s):
Bud site selection protein 23 homolog
Metastasis-related methyltransferase 1
Williams-Beuren syndrome chromosomal region 22 protein
Gene namesi
Name:WBSCR22
Synonyms:MERM1
ORF Names:HUSSY-03, PP3381
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:16405. WBSCR22.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi180K → R: Resistant to down-regulation in response to TNF and IFNG combined treatment and effective coactivator for NR3C1, even in the presence of TNF and IFNG; when associated R-196. 1 Publication1
Mutagenesisi196K → R: Resistant to down-regulation in response to TNF and IFNG combined treatment and effective coactivator for NR3C1, even in the presence of TNF and IFNG; when associated R-180. 1 Publication1

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNETi114049.
MIMi194050. phenotype.
OpenTargetsiENSG00000071462.
PharmGKBiPA38133.

Polymorphism and mutation databases

BioMutaiWBSCR22.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002044501 – 281Probable 18S rRNA (guanine-N(7))-methyltransferaseAdd BLAST281

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei240PhosphoserineCombined sources1

Post-translational modificationi

May be ubiquitinated and targeted to degradation in response to proinflammatory cytokine signaling.Curated

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO43709.
MaxQBiO43709.
PeptideAtlasiO43709.
PRIDEiO43709.

PTM databases

iPTMnetiO43709.
PhosphoSitePlusiO43709.

Expressioni

Tissue specificityi

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.3 Publications

Inductioni

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).1 Publication

Gene expression databases

BgeeiENSG00000071462.
CleanExiHS_WBSCR22.
ExpressionAtlasiO43709. baseline and differential.
GenevisibleiO43709. HS.

Organism-specific databases

HPAiHPA052185.

Interactioni

Subunit structurei

Interacts with GRIP1.1 Publication

Protein-protein interaction databases

BioGridi125277. 19 interactors.
IntActiO43709. 7 interactors.
MINTiMINT-2999647.

Structurei

3D structure databases

ProteinModelPortaliO43709.
SMRiO43709.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

GeneTreeiENSGT00390000014737.
HOGENOMiHOG000111527.
HOVERGENiHBG054765.
InParanoidiO43709.
KOiK19306.
OMAiDSKYTAR.
OrthoDBiEOG091G0EVK.
PhylomeDBiO43709.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR013216. Methyltransf_11.
IPR029063. SAM-dependent_MTases.
IPR022238. Unchr_MeTrfase_Williams-Beuren.
[Graphical view]
PfamiPF08241. Methyltransf_11. 1 hit.
PF12589. WBS_methylT. 1 hit.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O43709-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASRGRRPEH GGPPELFYDE TEARKYVRNS RMIDIQTRMA GRALELLYLP
60 70 80 90 100
ENKPCYLLDI GCGTGLSGSY LSDEGHYWVG LDISPAMLDE AVDREIEGDL
110 120 130 140 150
LLGDMGQGIP FKPGTFDGCI SISAVQWLCN ANKKSENPAK RLYCFFASLF
160 170 180 190 200
SVLVRGSRAV LQLYPENSEQ LELITTQATK AGFSGGMVVD YPNSAKAKKF
210 220 230 240 250
YLCLFSGPST FIPEGLSENQ DEVEPRESVF TNERFPLRMS RRGMVRKSRA
260 270 280
WVLEKKERHR RQGREVRPDT QYTGRKRKPR F
Length:281
Mass (Da):31,880
Last modified:October 10, 2002 - v2
Checksum:iB090B5F0A156B36A
GO
Isoform 2 (identifier: O43709-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     171-281: LELITTQATK...YTGRKRKPRF → VSPSATGCAG...VWPLMAHLMT

Note: No experimental confirmation available.
Show »
Length:220
Mass (Da):24,360
Checksum:i834E91DBD30FA33A
GO
Isoform 3 (identifier: O43709-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     233-233: E → EREGGAFERRGIRGHQTR

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:298
Mass (Da):33,846
Checksum:iCAA524325DAE8F47
GO

Sequence cautioni

The sequence AAG17249 differs from that shown. Reason: Frameshift at positions 194 and 203.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011511171 – 281LELIT…RKPRF → VSPSATGCAGELGDSTGKLS WGSDKESYADWREKEETCTL VWPLMAHLMT in isoform 2. 1 PublicationAdd BLAST111
Alternative sequenceiVSP_054762233E → EREGGAFERRGIRGHQTR in isoform 3. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF420248 mRNA. Translation: AAL16066.1.
AJ224442 mRNA. Translation: CAA11944.1.
AF412034 mRNA. Translation: AAM62316.1.
AK291116 mRNA. Translation: BAF83805.1.
AK315032 mRNA. Translation: BAG37517.1.
AF218007 mRNA. Translation: AAG17249.1. Sequence problems.
AC073846 Genomic DNA. Translation: AAS07473.1.
CH471200 Genomic DNA. Translation: EAW69657.1.
BC000169 mRNA. Translation: AAH00169.2.
BC001780 mRNA. Translation: AAH01780.2.
BC011696 mRNA. Translation: AAH11696.2.
CCDSiCCDS5557.1. [O43709-1]
CCDS56490.1. [O43709-3]
RefSeqiNP_001189489.1. NM_001202560.2. [O43709-3]
NP_059998.2. NM_017528.4. [O43709-1]
UniGeneiHs.647063.

Genome annotation databases

EnsembliENST00000265758; ENSP00000265758; ENSG00000071462. [O43709-1]
ENST00000423497; ENSP00000401191; ENSG00000071462. [O43709-3]
GeneIDi114049.
KEGGihsa:114049.
UCSCiuc003tyt.4. human. [O43709-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF420248 mRNA. Translation: AAL16066.1.
AJ224442 mRNA. Translation: CAA11944.1.
AF412034 mRNA. Translation: AAM62316.1.
AK291116 mRNA. Translation: BAF83805.1.
AK315032 mRNA. Translation: BAG37517.1.
AF218007 mRNA. Translation: AAG17249.1. Sequence problems.
AC073846 Genomic DNA. Translation: AAS07473.1.
CH471200 Genomic DNA. Translation: EAW69657.1.
BC000169 mRNA. Translation: AAH00169.2.
BC001780 mRNA. Translation: AAH01780.2.
BC011696 mRNA. Translation: AAH11696.2.
CCDSiCCDS5557.1. [O43709-1]
CCDS56490.1. [O43709-3]
RefSeqiNP_001189489.1. NM_001202560.2. [O43709-3]
NP_059998.2. NM_017528.4. [O43709-1]
UniGeneiHs.647063.

3D structure databases

ProteinModelPortaliO43709.
SMRiO43709.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125277. 19 interactors.
IntActiO43709. 7 interactors.
MINTiMINT-2999647.

PTM databases

iPTMnetiO43709.
PhosphoSitePlusiO43709.

Polymorphism and mutation databases

BioMutaiWBSCR22.

Proteomic databases

EPDiO43709.
MaxQBiO43709.
PeptideAtlasiO43709.
PRIDEiO43709.

Protocols and materials databases

DNASUi114049.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265758; ENSP00000265758; ENSG00000071462. [O43709-1]
ENST00000423497; ENSP00000401191; ENSG00000071462. [O43709-3]
GeneIDi114049.
KEGGihsa:114049.
UCSCiuc003tyt.4. human. [O43709-1]

Organism-specific databases

CTDi114049.
DisGeNETi114049.
GeneCardsiWBSCR22.
H-InvDBHIX0006753.
HGNCiHGNC:16405. WBSCR22.
HPAiHPA052185.
MIMi194050. phenotype.
615733. gene.
neXtProtiNX_O43709.
OpenTargetsiENSG00000071462.
PharmGKBiPA38133.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000014737.
HOGENOMiHOG000111527.
HOVERGENiHBG054765.
InParanoidiO43709.
KOiK19306.
OMAiDSKYTAR.
OrthoDBiEOG091G0EVK.
PhylomeDBiO43709.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000071462-MONOMER.
ReactomeiR-HSA-6790901. rRNA modification in the nucleus and cytosol.

Miscellaneous databases

ChiTaRSiWBSCR22. human.
GeneWikiiWBSCR22.
GenomeRNAii114049.
PROiO43709.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000071462.
CleanExiHS_WBSCR22.
ExpressionAtlasiO43709. baseline and differential.
GenevisibleiO43709. HS.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR013216. Methyltransf_11.
IPR029063. SAM-dependent_MTases.
IPR022238. Unchr_MeTrfase_Williams-Beuren.
[Graphical view]
PfamiPF08241. Methyltransf_11. 1 hit.
PF12589. WBS_methylT. 1 hit.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiWBS22_HUMAN
AccessioniPrimary (citable) accession number: O43709
Secondary accession number(s): A8K501
, C9K060, Q96P12, Q9BQ58, Q9HBP9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: October 10, 2002
Last modified: November 2, 2016
This is version 148 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.