AiPD: Autoinhibited Protein Database

O43709

Gene name	BUD23
Protein name	Probable 18S rRNA (guanine-N(7))-methyltransferase
Names	Bud site selection protein 23 homolog, Metastasis-related methyltransferase 1, Williams-Beuren syndrome chromosomal region 22 protein, rRNA methyltransferase and ribosome maturation factor
Species	Homo sapiens (Human)
KEGG Pathway	hsa:114049
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

201-274 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

201-274 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

7 structures for O43709

Entry ID	Method	Resolution	Chain	Position	Source
6G4W	EM	450 A	q	1-281	PDB
7WTS	EM	320 A	q	1-281	PDB
7WTT	EM	310 A	q	1-281	PDB
7WTU	EM	300 A	q	1-281	PDB
7WTV	EM	350 A	q	1-281	PDB
7WTW	EM	320 A	q	1-207	PDB
AF-O43709-F1	Predicted				AlphaFoldDB

239 variants for O43709

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs782291625 CA367828877	2	A>E		No	ClinGen ExAC TOPMed gnomAD
rs782291625 CA367828879	2	A>G		No	ClinGen ExAC TOPMed gnomAD
rs782291625 CA4290070	2	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4290073 rs782208484	3	S>F		No	ClinGen ExAC TOPMed gnomAD
CA4290072 rs782646263	3	S>P		No	ClinGen ExAC gnomAD
rs782208484 CA367828889	3	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs782192673 CA4290076	4	R>C		No	ClinGen ExAC TOPMed gnomAD
rs782192673 CA4290077	4	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1554612048 CA367828902	4	R>P		No	ClinGen gnomAD
rs782192673 CA367828896	4	R>S		No	ClinGen ExAC TOPMed gnomAD
rs782784211 CA4290080	5	G>S		No	ClinGen ExAC TOPMed gnomAD
rs901660506 CA160073048	6	R>L		No	ClinGen TOPMed gnomAD
COSM1187318 rs577588325 CA4290081	6	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4290083 rs373915669	7	R>C		No	ClinGen ESP ExAC gnomAD
rs781881214 CA4290084	7	R>L		No	ClinGen ExAC gnomAD
CA4290085 rs782547687	8	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1187773387 CA367828953	9	E>G		No	ClinGen TOPMed
CA367828948 rs1554612067	9	E>Q		No	ClinGen gnomAD
rs1554612080 CA367828960	10	H>R		No	ClinGen gnomAD
rs782758287 CA4290086	10	H>Y		No	ClinGen ExAC gnomAD
rs781867943 CA4290087	11	G>S		No	ClinGen ExAC TOPMed gnomAD
CA367828973 rs1554612097	12	G>E		No	ClinGen gnomAD
rs782470495 CA4290088	12	G>R		No	ClinGen ExAC gnomAD
CA367828983 rs1005891041	13	P>S		No	ClinGen TOPMed gnomAD
CA160073090 rs1005891041	13	P>T		No	ClinGen TOPMed gnomAD
CA160073096 rs1016333947	14	P>Q		No	ClinGen Ensembl
CA4290090 rs782174687	14	P>S		No	ClinGen ExAC gnomAD
rs368642694 CA4290091	16	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4290113 rs370479426	17	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1224301399 CA367829576	18	Y>H		No	ClinGen TOPMed gnomAD
CA4290114 rs782333617	20	E>V		No	ClinGen ExAC gnomAD
CA367829633 rs1277867591	21	T>R		No	ClinGen TOPMed
rs782666465 CA4290115	22	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1554612182 CA367829646	22	E>K		No	ClinGen Ensembl
rs781951178 CA367829668	23	A>D		No	ClinGen ExAC gnomAD
rs782379610 CA367829664	23	A>P		No	ClinGen ExAC gnomAD
CA4290117 rs782379610	23	A>T		No	ClinGen ExAC gnomAD
CA4290118 rs781951178	23	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4290119 rs782098612	24	R>G		No	ClinGen ExAC gnomAD
CA4290120 rs148529785	24	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA367829710 rs868927160	26	Y>*		No	ClinGen ESP TOPMed
CA4290121 rs781937000	26	Y>C		No	ClinGen ExAC gnomAD
rs12540944 CA367829722	27	V>I		No	ClinGen TOPMed gnomAD
rs782150833 CA4290122	28	R>C		No	ClinGen ExAC TOPMed gnomAD
rs570934967 CA160073189	28	R>P		No	ClinGen 1000Genomes
CA367829752 rs1554612208	29	N>H		No	ClinGen gnomAD
CA160073196 rs533945217	29	N>S		No	ClinGen TOPMed
CA4290123 rs533945217	29	N>T		No	ClinGen TOPMed
CA4290161 rs782097690	30	S>L		No	ClinGen ExAC gnomAD
CA367830265 rs1554613020	31	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA367830264 COSM195744 rs1490380663	31	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA4290164 rs142852600	32	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782157986 CA4290166	34	D>A		No	ClinGen ExAC gnomAD
CA367830294 rs1261162598	35	I>T		No	ClinGen TOPMed gnomAD
rs1554613028 CA367830313	38	R>K		No	ClinGen gnomAD
CA367830334 rs1238204278	41	G>R		No	ClinGen TOPMed gnomAD
rs782720715 CA4290167	42	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA367830340 rs151200832	42	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4290168 rs151200832	42	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405560707 CA367830347	43	A>V		No	ClinGen TOPMed
rs782099109 CA4290169	45	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1554613038 CA367830365	46	L>R		No	ClinGen gnomAD
rs1554613040 CA367830377	48	Y>C		No	ClinGen gnomAD
rs372615879 CA4290170	48	Y>H		No	ClinGen ESP ExAC gnomAD
rs372615879 CA367830374	48	Y>N		No	ClinGen ESP ExAC gnomAD
TCGA novel	49	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367830400 COSM1673210 rs11544048	52	N>H	prostate [Cosmic]	No	ClinGen cosmic curated Ensembl
CA4290172 rs782513268	52	N>S		No	ClinGen ExAC gnomAD
CA367830425 rs1554613048	55	C>S		No	ClinGen gnomAD
rs1554613051 CA367830456	60	I>F		No	ClinGen gnomAD
rs782142319 CA4290190	63	G>D		No	ClinGen ExAC TOPMed gnomAD
CA160074441 rs952219068	64	T>A		No	ClinGen Ensembl
rs1554613092 CA367830519	68	G>E		No	ClinGen gnomAD
rs782096707 CA4290193	68	G>R		No	ClinGen ExAC TOPMed gnomAD
CA367830529 rs1584214301	69	S>R		No	ClinGen Ensembl
CA367830548 rs1554613098	72	S>L		No	ClinGen gnomAD
CA4290195 CA367830555 rs781863238	73	D>E		No	ClinGen ExAC gnomAD
CA4290196 rs782505222	74	E>K		No	ClinGen ExAC gnomAD
rs781811084 CA4290198	77	Y>C		No	ClinGen ExAC gnomAD
rs1554613109 CA367830593	79	V>M		No	ClinGen gnomAD
rs1327192070 CA367830600	80	G>R		No	ClinGen TOPMed
CA367830599 rs1327192070	80	G>S		No	ClinGen TOPMed
CA4290200 rs367967199	82	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4290199 rs376916889	82	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA4290201 rs547666494	84	S>T		No	ClinGen ExAC TOPMed gnomAD
CA4290202 rs372118892	85	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372118892 CA4290203	85	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs782292289 CA4290204	86	A>S		No	ClinGen ExAC gnomAD
rs1373221054 CA367830653	89	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1554613160 CA367830696	93	D>H		No	ClinGen gnomAD
rs556844425 CA4290225	94	R>*		No	ClinGen ExAC gnomAD
CA367830703 rs556844425	94	R>G		No	ClinGen ExAC gnomAD
rs781981931 CA367830705 COSM602092	94	R>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs781981931 CA4290226	94	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	95	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367830711 rs1554613164	95	E>V		No	ClinGen gnomAD
rs1584214763 CA367830719	96	I>T		No	ClinGen Ensembl
CA4290231 rs782103833	104	D>N		No	ClinGen ExAC TOPMed gnomAD
CA367830777 rs1554613171	105	M>I		No	ClinGen gnomAD
rs782727095 CA4290232	114	G>R		No	ClinGen ExAC gnomAD
CA4290234 rs200632856	116	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4290235 rs782812839	119	C>S		No	ClinGen ExAC gnomAD
CA367830876 rs1554613176	120	I>L		No	ClinGen gnomAD
CA367830879 rs1331462363	120	I>N		No	ClinGen TOPMed
rs781892728 CA4290236	121	S>T		No	ClinGen ExAC gnomAD
rs1554613909 CA367831194	125	V>M		No	ClinGen Ensembl
CA4290255 rs548278021	126	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	128	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781866736 CA4290257	129	C>G		No	ClinGen ExAC gnomAD
rs782491010 CA4290258	129	C>Y		No	ClinGen ExAC
CA367831229 rs1318969437	130	N>D		No	ClinGen TOPMed
TCGA novel	131	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1308068785 CA367831246	132	N>I		No	ClinGen TOPMed gnomAD
rs1308068785 CA367831247	132	N>S		No	ClinGen TOPMed gnomAD
rs782814877 CA4290259	134	K>R		No	ClinGen ExAC gnomAD
CA4290261 rs145300786	135	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4290262 rs145300786	135	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs781881935 CA4290260	135	S>T		No	ClinGen ExAC gnomAD
CA4290263 rs782221368	137	N>T		No	ClinGen ExAC gnomAD
CA367831285 rs1554613932	138	P>S		No	ClinGen gnomAD
CA160076219 rs1032323885	139	A>S		No	ClinGen TOPMed
CA367831289 rs1032323885	139	A>T		No	ClinGen TOPMed
rs372476415 CA4290265	141	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs147638131 CA160076237	141	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs147638131 CA367831305	141	R>L		No	ClinGen ESP gnomAD
rs147638131 CA367831304	141	R>P		No	ClinGen ESP gnomAD
CA4290267 rs537277207	143	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	147	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4290269 rs782588652	147	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1554613946 CA367831352	148	S>C		No	ClinGen gnomAD
TCGA novel	150	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4290271 rs376084881	150	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs781945672 CA4290272	150	F>Y		No	ClinGen ExAC gnomAD
rs782124069 CA4290273	151	S>F		No	ClinGen ExAC gnomAD
rs985900894	153	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4290304 rs117562567	155	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4290303 rs141991727	155	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs528258905 CA367831409	156	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs528258905 CA4290305	156	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1195540508 CA367831418	158	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs200392309 CA160076697	158	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1554614214 CA367831436	161	L>P		No	ClinGen gnomAD
CA367831442 rs1262372641	162	Q>R		No	ClinGen TOPMed
TCGA novel	163	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1313888903 CA367831459	165	P>S		No	ClinGen TOPMed gnomAD
CA367831487 rs1218741883	169	E>Q		No	ClinGen TOPMed
rs1554614335 CA367831525	172	E>K		No	ClinGen gnomAD
CA367831541 rs1314845295	174	I>M		No	ClinGen TOPMed
CA4290343 rs782366115	174	I>T		No	ClinGen ExAC gnomAD
rs1554614342 CA367831549	176	T>A		No	ClinGen gnomAD
rs529161980 CA4290344	177	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA367831578 rs1396662817	180	K>M		No	ClinGen TOPMed
rs1554614345 CA367831573	180	K>Q		No	ClinGen gnomAD
rs1334787119 CA367831592	182	G>A		No	ClinGen TOPMed gnomAD
rs782145796 CA4290345	182	G>C		No	ClinGen ExAC TOPMed gnomAD
CA367831593 rs1334787119	182	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA367831595 rs1554614347	183	F>L		No	ClinGen gnomAD
rs375711686 CA4290347	185	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA160076885 rs1005331953	187	M>I		No	ClinGen TOPMed
CA4290348 rs782094413	187	M>V		No	ClinGen ExAC gnomAD
CA4290349 rs782799925	189	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA367831682 rs1554614357	195	A>V		No	ClinGen gnomAD
rs782424738 CA4290377	203	C>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	206	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM453356 rs1266528723 CA367831875	209	S>L	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA367831885 rs1283590123	210	T>I		No	ClinGen TOPMed gnomAD
rs1222190421 CA367831916	213	P>S		No	ClinGen TOPMed
rs1554614415 CA367831927	214	E>G		No	ClinGen gnomAD
rs1554614481 CA367832157	215	G>R		No	ClinGen gnomAD
rs1554614486 CA367832199	218	E>G		No	ClinGen gnomAD
rs1554614488 CA367832229	220	Q>P		No	ClinGen gnomAD
rs781910515 CA4290396	223	V>A		No	ClinGen ExAC gnomAD
CA367832270 rs1554614491	223	V>F		No	ClinGen gnomAD
rs199675248 CA4290398 CA4290399	224	E>D		No	ClinGen ExAC TOPMed gnomAD
CA367832298 rs1554614496	225	P>A		No	ClinGen gnomAD
rs967256241 CA160079031	225	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA160079032 rs564275911	226	R>G		No	ClinGen 1000Genomes TOPMed
CA367832326 rs1554614503	227	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4290402 rs782613266	229	V>L		No	ClinGen ExAC gnomAD
CA367832346 rs782613266	229	V>M		No	ClinGen ExAC gnomAD
TCGA novel	230	F>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367832357 rs1554614516	230	F>I		No	ClinGen gnomAD
rs374988376 CA160079050	231	T>A		No	ClinGen ESP TOPMed
rs782259467 COSM1698750 CA4290403	232	N>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs148856639 CA160081468	234	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4290448 rs373820094	235	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs950447369 CA160081475	236	P>S		No	ClinGen Ensembl
rs143474628 COSM1091594 CA4290450	240	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs143474628 CA367832876	240	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA4290452 rs782063569	241	R>S		No	ClinGen ExAC gnomAD
CA367832892 rs376250993	242	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4290453 rs376250993	242	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4290454 rs376250993	242	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA160081485 rs561141408	242	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
rs1256642173 CA367832899	243	G>E		No	ClinGen TOPMed gnomAD
CA4290456 rs148142986	243	G>R		No	ClinGen ESP ExAC gnomAD
CA4290457 rs141940714	244	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA160081544 rs1025573599	245	V>L		No	ClinGen gnomAD
COSM747157 rs1025573599 CA367832917	245	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs782543202 CA4290458	248	S>G		No	ClinGen ExAC gnomAD
rs1554615083 CA367832955	248	S>I		No	ClinGen gnomAD
CA4290460 rs370514850	249	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs782599250 CA4290459	249	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1554615097 CA367832979	251	W>*		No	ClinGen gnomAD
rs377247787 CA160081561	251	W>*		No	ClinGen ESP TOPMed gnomAD
rs782504979 CA4290461	251	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1584232888 CA367832995	252	V>G		No	ClinGen Ensembl
CA367832989 rs1267604505	252	V>L		No	ClinGen TOPMed
rs782594054 CA4290462	254	E>K		No	ClinGen ExAC
TCGA novel	256	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554615108 CA367833046	257	E>*		No	ClinGen gnomAD
TCGA novel	258	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367833058 rs782377734	258	R>L		No	ClinGen ExAC TOPMed gnomAD
rs782377734 CA4290464	258	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4290463 rs782264637	258	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1230810168 CA367833080	260	R>M		No	ClinGen TOPMed
CA4290466 rs370299240	261	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs782319992 CA4290467	261	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4290492 rs782204978	265	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1284099785 CA367833182	267	R>G		No	ClinGen TOPMed gnomAD
CA367833190 rs1584233598	267	R>S		No	ClinGen Ensembl
CA4290493 rs145188071	268	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367833199 rs1347856701	268	P>R		No	ClinGen TOPMed
CA160081754 rs1014425094	269	D>H		No	ClinGen TOPMed gnomAD
CA367833216 rs1584233665	270	T>P		No	ClinGen Ensembl
rs1024034392 CA160081779	271	Q>R		No	ClinGen TOPMed gnomAD
CA4290495 rs782087405	272	Y>D		No	ClinGen ExAC gnomAD
rs1584233699 CA367833248	273	T>P		No	ClinGen Ensembl
CA367833253 rs1554615181	273	T>S		No	ClinGen gnomAD
rs781984867 CA4290497	274	G>S		No	ClinGen ExAC gnomAD
rs780928648 CA4290498	275	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4290499 rs782800257	275	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1002363690 CA160081820	277	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA367833293 rs1554615190	277	R>H		No	ClinGen gnomAD
CA367833312 rs1554615192	279	P>S		No	ClinGen gnomAD
CA367833310 rs1554615192	279	P>T		No	ClinGen gnomAD
CA4290503 rs139003627	280	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4290504 rs782505357	280	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1173279080 CA367833337	281	F>L		No	ClinGen TOPMed

1 associated diseases with O43709

Without disease ID

2 regional properties for O43709

Type	Name	Position	InterPro Accession
domain	Methyltransferase type 11	58 - 132	IPR013216
domain	18S rRNA (guanine(1575)-N(7))-methyltransferase Bud23, C-terminal	204 - 278	IPR022238

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus, nucleoplasm Cytoplasm, perinuclear region Cytoplasm	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)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

4 GO annotations of molecular function

Name	Definition
methyltransferase activity	Catalysis of the transfer of a methyl group to an acceptor molecule.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
RNA binding	Binding to an RNA molecule or a portion thereof.
rRNA (guanine) methyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + rRNA = S-adenosyl-L-homocysteine + rRNA containing methylguanine.

3 GO annotations of biological process

Name	Definition
chromatin organization	The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
positive regulation of rRNA processing	Any process that activates or increases the frequency, rate or extent of rRNA processing.
rRNA (guanine-N7)-methylation	The addition of a methyl group to the N7 atom in the base portion of a guanine nucleotide residue in an rRNA molecule.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q58DP0	BUD23	Probable 18S rRNA (guanine-N(7))-methyltransferase	Bos taurus (Bovine)	PR

10	20	30	40	50	60
MASRGRRPEH	GGPPELFYDE	TEARKYVRNS	RMIDIQTRMA	GRALELLYLP	ENKPCYLLDI
70	80	90	100	110	120
GCGTGLSGSY	LSDEGHYWVG	LDISPAMLDE	AVDREIEGDL	LLGDMGQGIP	FKPGTFDGCI
130	140	150	160	170	180
SISAVQWLCN	ANKKSENPAK	RLYCFFASLF	SVLVRGSRAV	LQLYPENSEQ	LELITTQATK
190	200	210	220	230	240
AGFSGGMVVD	YPNSAKAKKF	YLCLFSGPST	FIPEGLSENQ	DEVEPRESVF	TNERFPLRMS
250	260	270	280
RRGMVRKSRA	WVLEKKERHR	RQGREVRPDT	QYTGRKRKPR	F