BUD23
18S rRNA (guanine-N(7))-methyltransferase
Also known as: BUD23_HUMAN, MERM1, MGC19709, MGC2022, MGC5140, PP3381, WBMT, WBSCR22
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O43709
- Gene
- BUD23
- Ensembl
- ENSG00000071462
- Chromosome
- 7
- Canonical length
- 281 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
281 residues, UniProt reviewed canonical sequence.
>O43709|BUD23
1 MASRGRRPEH GGPPELFYDE TEARKYVRNS RMIDIQTRMA GRALELLYLP ENKPCYLLDI
61 GCGTGLSGSY LSDEGHYWVG LDISPAMLDE AVDREIEGDL LLGDMGQGIP FKPGTFDGCI
121 SISAVQWLCN ANKKSENPAK RLYCFFASLF SVLVRGSRAV LQLYPENSEQ LELITTQATK
181 AGFSGGMVVD YPNSAKAKKF YLCLFSGPST FIPEGLSENQ DEVEPRESVF TNERFPLRMS
241 RRGMVRKSRA WVLEKKERHR RQGREVRPDT QYTGRKRKPR FLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BUD23 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 116 nTPM
Expression across tissuesHPA
Tissue
- testis: 116 nTPM
- skeletal muscle: 115 nTPM
- heart muscle: 82 nTPM
- tongue: 74 nTPM
- choroid plexus: 74 nTPM
- bone marrow: 72 nTPM
Single-cell type
- early primary spermatocytes: 723 nCPM
- differentiating spermatogonia: 620 nCPM
- undifferentiated spermatogonia: 476 nCPM
- plasma cells: 186 nCPM
- oocytes: 175 nCPM
- breast lactating cells: 166 nCPM
Immune cell
- plasmacytoid DC: 186 nTPM
- memory B-cell: 173 nTPM
- naive B-cell: 150 nTPM
- T-reg: 145 nTPM
- naive CD4 T-cell: 132 nTPM
- total PBMC: 130 nTPM
Brain region
- choroid plexus: 46 nTPM
- white matter: 43 nTPM
- cerebral cortex: 42 nTPM
- hypothalamus: 40 nTPM
- medulla oblongata: 40 nTPM
- thalamus: 38 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.74
- gnomAD pLI
- 0
- DepMap mean gene effect
- -1.43
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- methyltransferase activity
- protein heterodimerization activity
- RNA binding
- rRNA (guanine) methyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Methyltransferase type 11
- S-adenosyl-L-methionine-dependent methyltransferase superfamily
- Methyltransferase domain
- 18S rRNA (guanine(1575)-N(7))-methyltransferase Bud23, C-terminal
- 18S rRNA (guanine(1575)-N(7))-methyltransferase Bud23-like
- Methyltransferase involved in Williams-Beuren syndrome
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BUD23 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BUD23 as an antibody target. Whether an autoantibody or antibody against BUD23 could matter depends on whether native BUD23 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BUD23 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BUD23 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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