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

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

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Subcellular Location Biology & Function Disease Associations Interactions Cross-References

General Information

Protein Information
Protein Name	Probable 18S rRNA (guanine-N(7))-methyltransferase
Accession Code	O43709
Gene	BUD23
Organism	Homo sapiens \| Human (Taxonomy: 9606)
Part of Reference Proteome?	Yes
Sequence (Length: 281)
MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDIGCGTGLSGSYLSDEGHYWVG LDISPAMLDEAVDREIEGDLLLGDMGQGIPFKPGTFDGCISISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAV LQLYPENSEQLELITTQATKAGFSGGMVVDYPNSAKAKKFYLCLFSGPSTFIPEGLSENQDEVEPRESVFTNERFPLRMS RRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRKRKPRF

Structure Viewer (PDB: 6G4W)

Subcellular Location

Description
Nucleus {Experimental EvidencePubMed:24086612, Experimental EvidencePubMed:24488492, Experimental EvidencePubMed:34948388}. Nucleus, nucleoplasm {Experimental EvidencePubMed:25851604}. Cytoplasm, perinuclear region {Experimental EvidencePubMed:25851604}. Cytoplasm {Experimental EvidencePubMed:24488492}. Note=Localized diffusely throughout the nucleus and the cytoplasm (PubMed:24488492). Localizes to a polarized perinuclear structure, overlapping partially with the Golgi and lysosomes (PubMed:25851604). Localization is not affected by glucocorticoid treatment (PubMed:24488492). {Experimental EvidencePubMed:24488492, Experimental EvidencePubMed:25851604}.
Position in the Nuclear Envelope
Location	Location ID	Description
Perinuclear Region	SL-0198	The perinuclear region is the cytoplasmic region just around the nucleus.
Membrane Topology
Topology	Source	Annotation Type
Unknown	UniProt	Sequence Analysis
Assigned Ontology terms

Cellular Component	Nucleolus (GO:0005730) Nucleoplasm (GO:0005654) Nucleus (GO:0005634) Perinuclear Region Of Cytoplasm (GO:0048471)

Biology & Function

Description
S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) 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 Similarity, Experimental EvidencePubMed:24086612, Experimental EvidencePubMed:24488492, Experimental EvidencePubMed:25851604}.
Assigned Ontology terms

Biological Process	Chromatin Organization (GO:0006325) Positive Regulation Of RRNA Processing (GO:2000234) RRNA (Guanine-N7)-Methylation (GO:0070476)
Molecular Function	Methyltransferase Activity (GO:0008168) Protein Heterodimerization Activity (GO:0046982) RNA Binding (GO:0003723) RRNA (Guanine) Methyltransferase Activity (GO:0016435)

Disease associations

Description
Note=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. {Curator InferencePubMed:11978965}.
Database Associations
OMIM	194050 615733
DisGeNET	114049

Protein-Protein Interactions

Interactions with Nuclear Envelope proteins (2 interactors)

Partner (NucEnvDB)		IntAct	Confidence score
Q9UI30	Multifunctional methyltransferase subunit TRM112-like protein	EBI-23853163	0.83
P59595	Nucleoprotein	EBI-27129966	0.35
Interactions with other proteins (21 interactors)

Partner (UniProt)		IntAct	Confidence score
Q9Y478	5'-AMP-activated protein kinase subunit beta-1 (AMPK subunit beta-1) (AMPKb)	EBI-1079549	0.00
P01100	Protein c-Fos (Cellular oncogene fos) (Fos proto-oncogene, AP-1 transcription factor subunit) (G0/G1 switch regulatory protein 7) (Proto-oncogene c-Fos) (Transcription factor AP-1 subunit c-Fos)	EBI-2692676	0.00
Q5NHY6	Glutamate--tRNA ligase (EC 6.1.1.17) (Glutamyl-tRNA synthetase) (GluRS)	EBI-2799823	0.00
P00973	2'-5'-oligoadenylate synthase 1 ((2-5')oligo(A) synthase 1) (2-5A synthase 1) (EC 2.7.7.84) (E18/E16) (p46/p42 OAS)	EBI-3942303	0.37
Q16512	Serine/threonine-protein kinase N1 (EC 2.7.11.13) (Protease-activated kinase 1) (PAK-1) (Protein kinase C-like 1) (Protein kinase C-like PKN) (Protein kinase PKN-alpha) (Protein-kinase C-related kinase 1) (Serine-threonine protein kinase N)	EBI-3942313	0.37
P55072	Transitional endoplasmic reticulum ATPase (TER ATPase) (EC 3.6.4.6) (15S Mg(2+)-ATPase p97 subunit) (Valosin-containing protein) (VCP)	EBI-3942323	0.37
Q13618	Cullin-3 (CUL-3)	EBI-21329068	0.35
Q6ZWV7	60S ribosomal protein L35	EBI-10997876	0.35
P06748	Nucleophosmin (NPM) (Nucleolar phosphoprotein B23) (Nucleolar protein NO38) (Numatrin)	EBI-11145880	0.35
D0UZS0	Core gene UL54 family protein (ORF57)	EBI-14064021	0.35
Q9C0C9	(E3-independent) E2 ubiquitin-conjugating enzyme (EC 2.3.2.24) (E2/E3 hybrid ubiquitin-protein ligase UBE2O) (Ubiquitin carrier protein O) (Ubiquitin-conjugating enzyme E2 O) (Ubiquitin-conjugating enzyme E2 of 230 kDa) (Ubiquitin-conjugating enzyme E2-230K) (Ubiquitin-protein ligase O)	EBI-21894427	0.35
Q8IUE6	Histone H2A type 2-B (H2A-clustered histone 21)	EBI-21894427	0.35
Q9IK91	Phosphoprotein (Protein P)	EBI-25747231	0.35
P0DTC9	Nucleoprotein (N) (Nucleocapsid protein) (NC) (Protein N)	EBI-27129711	0.35
P15130	Nucleoprotein (Nucleocapsid protein) (NC) (Protein N)	EBI-27131516	0.35
Q0ZME3	Nucleoprotein (Nucleocapsid protein) (NC) (Protein N)	EBI-27131755	0.35
Q6Q1R8	Nucleoprotein (Nucleocapsid protein) (NC) (Protein N)	EBI-27132003	0.35
K9N4V7	Nucleoprotein (Nucleocapsid protein) (NC) (Protein N)	EBI-27132270	0.35
P33469	Nucleoprotein (Nucleocapsid protein) (NC) (Protein N)	EBI-27132272	0.35
Q9BXK1	Krueppel-like factor 16 (Basic transcription element-binding protein 4) (BTE-binding protein 4) (Novel Sp1-like zinc finger transcription factor 2) (Transcription factor BTEB4) (Transcription factor NSLP2)	EBI-29019783	0.35
O95600	Krueppel-like factor 8 (Basic krueppel-like factor 3) (Zinc finger protein 741)	EBI-29020196	0.35

Cross-References

Database	Links
UNIPROT	O43709 A8K501 C9K060 Q96P12 Q9BQ58 Q9HBP9
PDB	6G4W
Pfam	PF08241 PF12589
OMIM	194050 615733
DisGeNET	114049

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

General Information

Protein Information

Structure Viewer (PDB: 6G4W)

Subcellular Location

Description Show

Position in the Nuclear Envelope

Membrane Topology

Assigned Ontology terms

Biology & Function

Description Hide

Assigned Ontology terms

Disease associations

Description

Database Associations

Protein-Protein Interactions

Interactions with Nuclear Envelope proteins (2 interactors)

Interactions with other proteins (21 interactors)

Cross-References

Database

Links

Description

Description