Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

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

Gene

BUD23

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

Functioni

S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N7 position of a guanine in 18S rRNA (PubMed:25851604). Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity (PubMed:24086612). Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors (PubMed:24488492). Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements (PubMed:24488492). Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492).By similarity3 Publications

Catalytic activityi

S-adenosyl-L-methionine + guanine in 18S rRNA = S-adenosyl-L-homocysteine + N7-methylguanine in 18S rRNA.1 Publication

GO - Molecular functioni

  • methyltransferase activity Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • RNA binding Source: UniProtKB
  • rRNA (guanine) methyltransferase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator, Methyltransferase, Transferase
Biological processRibosome biogenesis, rRNA processing, Transcription, Transcription regulation
LigandS-adenosyl-L-methionine

Enzyme and pathway databases

ReactomeiR-HSA-6790901 rRNA modification in the nucleus and cytosol
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol

Names & Taxonomyi

Protein namesi
Recommended name:
Probable 18S rRNA (guanine-N(7))-methyltransferaseCurated (EC:2.1.1.-1 Publication)
Alternative name(s):
Bud site selection protein 23 homolog
Metastasis-related methyltransferase 1
Williams-Beuren syndrome chromosomal region 22 protein
rRNA methyltransferase and ribosome maturation factorImported
Gene namesi
Name:BUD23Imported
Synonyms:MERM1, WBSCR22
ORF Names:HUSSY-03, PP3381
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000071462.11
HGNCiHGNC:16405 BUD23
MIMi615733 gene
neXtProtiNX_O43709

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

BUD23 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 BUD23 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.1 Publication

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
ProteomicsDBi49128
49129 [O43709-2]

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 Expressed in 231 organ(s), highest expression level in right testis
CleanExiHS_WBSCR22
ExpressionAtlasiO43709 baseline and differential
GenevisibleiO43709 HS

Organism-specific databases

HPAiHPA052185

Interactioni

Subunit structurei

Heterodimer with TRMT112; this heterodimerization is necessary for the metabolic stability and activity of the catalytic subunit BUD23 (PubMed:25851604). Interacts with GRIP1.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi125277, 23 interactors
IntActiO43709, 8 interactors

Structurei

3D structure databases

ProteinModelPortaliO43709
SMRiO43709
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

GeneTreeiENSGT00390000014737
HOGENOMiHOG000111527
HOVERGENiHBG054765
InParanoidiO43709
KOiK19306
OMAiRFFTTLH
OrthoDBiEOG091G0EVK
PhylomeDBiO43709
TreeFamiTF300750

Family and domain databases

InterProiView protein in InterPro
IPR039769 Bud23-like
IPR022238 Bud23_C
IPR013216 Methyltransf_11
IPR029063 SAM-dependent_MTases
PANTHERiPTHR12734 PTHR12734, 1 hit
PfamiView protein in Pfam
PF08241 Methyltransf_11, 1 hit
PF12589 WBS_methylT, 1 hit
SUPFAMiSSF53335 SSF53335, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F2Z3D9F2Z3D9_HUMAN
Probable 18S rRNA (guanine-N(7))-me...
BUD23
193Annotation score:
F8WD87F8WD87_HUMAN
Probable 18S rRNA (guanine-N(7))-me...
BUD23
100Annotation score:
E9PCQ7E9PCQ7_HUMAN
Probable 18S rRNA (guanine-N(7))-me...
BUD23
140Annotation score:
H7C0G4H7C0G4_HUMAN
Probable 18S rRNA (guanine-N(7))-me...
BUD23
65Annotation score:
F8WD67F8WD67_HUMAN
Probable 18S rRNA (guanine-N(7))-me...
BUD23
140Annotation score:
H7C170H7C170_HUMAN
Probable 18S rRNA (guanine-N(7))-me...
BUD23
128Annotation score:
B3KR83B3KR83_HUMAN
Probable 18S rRNA (guanine-N(7))-me...
BUD23
123Annotation score:
F8VZ18F8VZ18_HUMAN
Probable 18S rRNA (guanine-N(7))-me...
BUD23
89Annotation score:
H7C439H7C439_HUMAN
Probable 18S rRNA (guanine-N(7))-me...
BUD23
39Annotation score:
F8W1Y1F8W1Y1_HUMAN
Probable 18S rRNA (guanine-N(7))-me...
BUD23
67Annotation score:

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

Similar proteinsi

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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6G4Welectron microscopy4.50q1-281[»]
ProteinModelPortaliO43709
SMRiO43709
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125277, 23 interactors
IntActiO43709, 8 interactors

PTM databases

iPTMnetiO43709
PhosphoSitePlusiO43709

Polymorphism and mutation databases

BioMutaiWBSCR22

Proteomic databases

EPDiO43709
MaxQBiO43709
PeptideAtlasiO43709
PRIDEiO43709
ProteomicsDBi49128
49129 [O43709-2]

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
EuPathDBiHostDB:ENSG00000071462.11
GeneCardsiBUD23
H-InvDBiHIX0006753
HGNCiHGNC:16405 BUD23
HPAiHPA052185
MIMi194050 phenotype
615733 gene
neXtProtiNX_O43709
OpenTargetsiENSG00000071462
PharmGKBiPA38133
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000014737
HOGENOMiHOG000111527
HOVERGENiHBG054765
InParanoidiO43709
KOiK19306
OMAiRFFTTLH
OrthoDBiEOG091G0EVK
PhylomeDBiO43709
TreeFamiTF300750

Enzyme and pathway databases

ReactomeiR-HSA-6790901 rRNA modification in the nucleus and cytosol
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol

Miscellaneous databases

ChiTaRSiWBSCR22 human
GeneWikiiWBSCR22
GenomeRNAii114049
PROiPR:O43709
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000071462 Expressed in 231 organ(s), highest expression level in right testis
CleanExiHS_WBSCR22
ExpressionAtlasiO43709 baseline and differential
GenevisibleiO43709 HS

Family and domain databases

InterProiView protein in InterPro
IPR039769 Bud23-like
IPR022238 Bud23_C
IPR013216 Methyltransf_11
IPR029063 SAM-dependent_MTases
PANTHERiPTHR12734 PTHR12734, 1 hit
PfamiView protein in Pfam
PF08241 Methyltransf_11, 1 hit
PF12589 WBS_methylT, 1 hit
SUPFAMiSSF53335 SSF53335, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBUD23_HUMAN
AccessioniPrimary (citable) accession number: O43709
Secondary accession number(s): A8K501
, C9K060, Q96P12, Q9BQ58, Q9HBP9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: October 10, 2002
Last modified: November 7, 2018
This is version 166 of the entry and version 2 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again