AiPD: Autoinhibited Protein Database

Q9UJK0

Gene name	TSR3
Protein name	18S rRNA aminocarboxypropyltransferase
Names	20S S rRNA accumulation protein 3 homolog, HsTsr3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:115939
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

220-312 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

220-312 (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

1 structures for Q9UJK0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UJK0-F1	Predicted				AlphaFoldDB

345 variants for Q9UJK0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA394183216 rs1274207212	3	R>C		No	ClinGen TOPMed
rs1365465888 CA394183207	4	R>W		No	ClinGen TOPMed
CA394183194 rs1247952972	5	R>K		No	ClinGen TOPMed gnomAD
CA276641058 rs907048726	6	A>T		No	ClinGen TOPMed
CA394183168 rs1467769512	8	R>C		No	ClinGen gnomAD
CA394183164 rs1274585724	8	R>H		No	ClinGen TOPMed
CA394183157 rs1220118994	9	G>A		No	ClinGen TOPMed
CA394183160 rs1268324704	9	G>R		No	ClinGen gnomAD
CA394183148 rs1487832786	10	P>R		No	ClinGen TOPMed
rs888194280 CA276641042	10	P>S		No	ClinGen TOPMed gnomAD
rs1469379894 CA394183138	11	G>A		No	ClinGen TOPMed gnomAD
rs1249576614 CA394183134	12	A>T		No	ClinGen TOPMed gnomAD
CA276641032 rs111834368	13	E>D		No	ClinGen Ensembl
CA276641031 rs760140489	14	G>S		No	ClinGen TOPMed gnomAD
rs932328410 CA276641025	15	G>V		No	ClinGen TOPMed
CA276641021 rs1054163328	16	R>C		No	ClinGen TOPMed gnomAD
CA394183090 rs1440216980	16	R>H		No	ClinGen gnomAD
rs1444362643 CA394183071	18	R>L		No	ClinGen TOPMed
CA394183052 rs1187962530	20	L>P		No	ClinGen Ensembl
rs776466792 CA7807429	21	P>R		No	ClinGen ExAC TOPMed gnomAD
CA276641019 rs942360505	21	P>S		No	ClinGen Ensembl
rs1596602931 CA394183033	22	T>M		No	ClinGen Ensembl
CA394183026 rs1458671783	23	R>H		No	ClinGen TOPMed gnomAD
rs1458671783 CA394183024	23	R>P		No	ClinGen TOPMed gnomAD
CA276641003 rs536513000	25	L>P		No	ClinGen 1000Genomes
CA276641002 rs1051298505	27	A>T		No	ClinGen TOPMed gnomAD
rs933717447 CA276640999	27	A>V		No	ClinGen Ensembl
CA394182964 rs1414984649	29	A>S		No	ClinGen gnomAD
CA276640991 rs923463438	31	E>*		No	ClinGen Ensembl
rs958198845 CA276640986	31	E>D		No	ClinGen TOPMed
CA394182920 rs1253119150	33	G>D		No	ClinGen TOPMed
CA394182925 rs1427116278	33	G>S		No	ClinGen gnomAD
rs865811325 CA276640970	35	A>S		No	ClinGen Ensembl
CA276640960 rs547587708	35	A>V		No	ClinGen 1000Genomes
CA394182882 rs1180533121	37	Q>R		No	ClinGen TOPMed
CA276640889 rs1015478462	38	A>V		No	ClinGen TOPMed gnomAD
CA276640884 rs971453741	41	E>A		No	ClinGen Ensembl
CA276640888 rs981543236	41	E>K		No	ClinGen Ensembl
CA276640875 rs1004055677	43	G>E		No	ClinGen TOPMed
rs1260560961 CA394182778	45	A>S		No	ClinGen gnomAD
CA276640865 rs562102467	47	G>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs888263919 CA276640869	47	G>S		No	ClinGen TOPMed
rs1389595340 CA394182745	48	E>K		No	ClinGen TOPMed
CA394182706 rs1256095046	50	G>C		No	ClinGen gnomAD
rs1010066590 CA276640853	51	P>S		No	ClinGen TOPMed gnomAD
rs749807152 CA7807421	52	G>D		No	ClinGen ExAC gnomAD
rs996639866 CA276640846	54	A>T		No	ClinGen TOPMed gnomAD
CA7807420 rs780629813	54	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1307165087 CA394182614	55	A>V		No	ClinGen gnomAD
CA276640825 rs1040726547	56	L>V		No	ClinGen TOPMed
CA394182586 rs1296321782	57	P>H		No	ClinGen TOPMed
CA394182541 rs1362385501	60	L>P		No	ClinGen TOPMed
rs756390327 CA7807419	61	A>T		No	ClinGen ExAC gnomAD
rs1228720068 CA394182530	61	A>V		No	ClinGen TOPMed gnomAD
CA276640817 rs1033347197	62	M>L		No	ClinGen Ensembl
CA276640815 rs943668495	63	W>R		No	ClinGen TOPMed
rs1381050989 CA394182469	64	E>*		No	ClinGen gnomAD
CA7807418 rs746234557	66	G>S		No	ClinGen ExAC gnomAD
CA394182434 rs1414094259	66	G>V		No	ClinGen gnomAD
rs1443525209 CA394182431	67	H>Y		No	ClinGen Ensembl
CA394182420 rs1309358236	68	C>F		No	ClinGen TOPMed gnomAD
rs1309358236 CA394182422	68	C>Y		No	ClinGen TOPMed gnomAD
CA394182417 rs1460000550	69	D>N		No	ClinGen gnomAD
CA394182415 rs1460000550	69	D>Y		No	ClinGen gnomAD
CA276640784 rs1052610084	70	P>R		No	ClinGen TOPMed
rs752173891 CA7807415	71	R>G		No	ClinGen ExAC TOPMed gnomAD
CA276640775 rs1050762937	71	R>Q		No	ClinGen TOPMed
CA276640777 rs752173891	71	R>W		No	ClinGen ExAC TOPMed gnomAD
CA276640774 rs933769898	72	R>G		No	ClinGen TOPMed
rs764706631 CA7807414	72	R>H		No	ClinGen ExAC TOPMed gnomAD
CA394182387 rs1473217544	74	T>K		No	ClinGen gnomAD
CA7807411 rs766344716	76	R>C		No	ClinGen ExAC TOPMed gnomAD
rs766344716 CA276640766	76	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1457498222 CA394182374	77	K>E		No	ClinGen TOPMed
CA7807409 rs767846951	77	K>R		No	ClinGen ExAC TOPMed gnomAD
CA7807408 rs767846951	77	K>T		No	ClinGen ExAC TOPMed gnomAD
CA394182363 rs774466718	79	A>P		No	ClinGen ExAC TOPMed gnomAD
CA7807406 rs774466718	79	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7807407 rs774466718	79	A>T		No	ClinGen ExAC TOPMed gnomAD
rs909348229 CA276640757	79	A>V		No	ClinGen Ensembl
CA394182358 rs1291221996	80	R>C		No	ClinGen TOPMed gnomAD
rs530299830 CA7807405	80	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs530299830 CA276640756	80	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA394182338 rs1596602690	84	V>G		No	ClinGen Ensembl
rs749414011 CA7807404	84	V>M		No	ClinGen ExAC gnomAD
CA7807403 rs775789584	85	R>C		No	ClinGen ExAC TOPMed gnomAD
rs770344448 CA7807402	86	C>R		No	ClinGen ExAC gnomAD
CA394182320 rs1293535538	87	L>P		No	ClinGen TOPMed gnomAD
rs758025804 CA7807399	88	R>S		No	ClinGen ExAC gnomAD
CA394182307 rs1164697562	90	G>R		No	ClinGen gnomAD
rs937584846 CA276640693	93	F>C		No	ClinGen Ensembl
rs1229253198 CA394182266	94	G>R		No	ClinGen TOPMed
CA7807397 rs747753220	95	G>R		No	ClinGen ExAC gnomAD
rs1015532182 CA276640622	99	S>N		No	ClinGen TOPMed gnomAD
CA7807394 rs753401776	100	P>S		No	ClinGen ExAC gnomAD
TCGA novel	102	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1262492485 CA394182209	102	G>V		No	ClinGen gnomAD
rs750211248 CA7807391	103	K>N		No	ClinGen ExAC gnomAD
rs767468573 CA394182200	104	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA7807390 rs767468573	104	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA7807389 rs761722185	104	Q>H		No	ClinGen ExAC
rs751687933 CA7807388	105	Y>*		No	ClinGen ExAC gnomAD
CA394182195 rs1301389429	105	Y>H		No	ClinGen gnomAD
CA7807387 rs764377460	106	A>G		No	ClinGen ExAC gnomAD
rs952725130 CA276640569	106	A>T		No	ClinGen TOPMed gnomAD
CA394182179 rs1391278078	107	S>Y		No	ClinGen gnomAD
CA7807384 rs770257562	108	P>L		No	ClinGen ExAC gnomAD
CA7807385 rs775694762	108	P>S		No	ClinGen ExAC gnomAD
rs1178377892 CA394182169	109	A>T		No	ClinGen gnomAD
CA394182159 rs1452635948	109	A>V		No	ClinGen gnomAD
rs376805902 CA7807383	110	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA394182134 rs777149764	111	R>K		No	ClinGen ExAC TOPMed gnomAD
rs777149764 CA7807382	111	R>T		No	ClinGen ExAC TOPMed gnomAD
CA7807364 rs200577377	112	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA276640101 rs988911140	115	A>V		No	ClinGen gnomAD
rs771442822 CA7807362	116	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs773695433 CA7807360	118	G>A		No	ClinGen ExAC TOPMed gnomAD
rs773695433 CA7807361	118	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1596602060 CA394181917	119	V>G		No	ClinGen Ensembl
CA394181901 rs1456886551	120	A>G		No	ClinGen TOPMed
rs1368831840 CA394181911	120	A>S		No	ClinGen gnomAD
CA7807358 rs575767980	121	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA394181845 rs1567178857	123	D>E		No	ClinGen Ensembl
rs1205317247 CA394181862	123	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA394181805 rs1194881468	125	S>F		No	ClinGen gnomAD
rs1270534848 CA394181814	125	S>P		No	ClinGen gnomAD
CA394181803 rs1356541704	126	W>R		No	ClinGen gnomAD
CA7807355 rs745372711	127	A>V		No	ClinGen ExAC gnomAD
rs781213771 CA394181770	128	R>G		No	ClinGen ExAC gnomAD
rs757318609 CA7807353	128	R>K		No	ClinGen ExAC TOPMed gnomAD
rs757318609 CA394181766	128	R>T		No	ClinGen ExAC TOPMed gnomAD
rs781213771 CA7807354	128	R>W		No	ClinGen ExAC gnomAD
CA7807352 rs143210621	130	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7807348 rs765454302	131	E>D		No	ClinGen ExAC gnomAD
rs371894645 CA7807349	131	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7807350 rs371894645	131	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394181698 rs1288721007	132	T>I		No	ClinGen TOPMed
rs1567178834 CA394181683	133	P>L		No	ClinGen Ensembl
rs754994733 CA7807347	133	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753976955 CA7807346	134	F>S		No	ClinGen ExAC TOPMed gnomAD
CA7807344 rs761285879	135	G>R		No	ClinGen ExAC gnomAD
CA394181637 CA276639979 rs1049061743	137	M>I		No	ClinGen TOPMed gnomAD
rs1226184124 CA394181640	137	M>T		No	ClinGen TOPMed
rs1230696689 CA394181636	138	R>*		No	ClinGen gnomAD
CA7807342 rs139799917	138	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112658097 CA7807340	141	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7807339 rs200823810	143	R>C		No	ClinGen ExAC TOPMed
CA7807338 rs200823810	143	R>G		No	ClinGen ExAC TOPMed
CA394180173 rs1212261562	143	R>L		No	ClinGen gnomAD
rs368503649 CA7807336	144	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1257954512 CA394180084	147	Y>*		No	ClinGen gnomAD
rs770740214 CA7807335	147	Y>C		No	ClinGen ExAC gnomAD
CA7807334 rs746919071	150	A>V		No	ClinGen ExAC gnomAD
rs371158812 CA394180022	151	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs371158812 CA7807332	151	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1164025219 CA394180016	151	A>V		No	ClinGen TOPMed
CA7807331 rs747953960	152	N>K		No	ClinGen ExAC gnomAD
rs753886417 CA7807328	154	V>A		No	ClinGen ExAC gnomAD
CA7807329 rs755260594	154	V>M		No	ClinGen ExAC gnomAD
CA276639899 rs1001709426	156	Y>C		No	ClinGen gnomAD
CA7807327 rs142652674	156	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7807326 rs367676963	158	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs575653164 CA7807325	159	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7807323 rs762176283	160	Y>C		No	ClinGen ExAC gnomAD
rs148457434 CA7807324	160	Y>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs148457434 CA276639892	160	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs913257055 CA276639862	161	R>T		No	ClinGen Ensembl
CA394179834 rs1290795022	162	L>R		No	ClinGen gnomAD
rs1191354205 CA394179830	163	S>P		No	ClinGen TOPMed gnomAD
CA394179823 rs1567178757	163	S>Y		No	ClinGen Ensembl
CA276639856 rs1031127297	164	C>W		No	ClinGen TOPMed
rs1227196593 CA394179803	165	V>L		No	ClinGen TOPMed
rs774910627 CA7807322	167	A>T		No	ClinGen ExAC gnomAD
rs764974363 CA7807321	167	A>V		No	ClinGen ExAC TOPMed gnomAD
CA394179747 rs776447880	169	A>D		No	ClinGen ExAC TOPMed gnomAD
CA7807319 rs776447880	169	A>V		No	ClinGen ExAC TOPMed gnomAD
CA394179738 rs1596601807	170	A>T		No	ClinGen Ensembl
rs142807232 CA7807318	171	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394179691 rs746509344	172	F>L		No	ClinGen ExAC TOPMed gnomAD
CA276639836 rs866346523	173	C>F		No	ClinGen Ensembl
COSM1375955 CA7807315 rs771962406	175	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771962406 CA394179646	175	V>L		No	ClinGen ExAC TOPMed gnomAD
rs142802890 CA7807278	177	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA276639224 rs996888230	178	P>A		No	ClinGen Ensembl
rs761342480 CA7807277	178	P>L		No	ClinGen ExAC gnomAD
rs768593176 CA7807275	179	D>N		No	ClinGen ExAC
rs140020940 CA7807274	180	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1162780825 CA394179431	182	V>F		No	ClinGen TOPMed
CA394179398 rs775210664	183	I>M		No	ClinGen ExAC TOPMed gnomAD
CA394179382 rs1308381917	184	L>F		No	ClinGen TOPMed
CA394179362 rs1353596973	185	L>P		No	ClinGen TOPMed
rs200565292 CA7807271	186	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770023401 CA7807272 COSM1732254	186	R>W	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA394179251 rs1258805864	190	W>*		No	ClinGen TOPMed
CA7807268 rs747102484	191	G>V		No	ClinGen ExAC gnomAD
rs778415056 CA7807267	192	K>E		No	ClinGen ExAC gnomAD
rs1357898418 CA394179170	193	G>V		No	ClinGen TOPMed
TCGA novel	194	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1054953125 CA276639139	195	L>F		No	ClinGen TOPMed
CA276639141 rs895006618	195	L>W		No	ClinGen TOPMed
CA394179117 rs765918112	196	D>A		No	ClinGen ExAC TOPMed gnomAD
rs765918112 CA7807265	196	D>G		No	ClinGen ExAC TOPMed gnomAD
CA394179091 rs1336654067	197	L>V		No	ClinGen gnomAD
CA394179057 rs1596600819	198	N>T		No	ClinGen Ensembl
CA7807263 rs143030507	199	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394178831 rs767159335	205	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs756697549 CA7807260	206	A>P		No	ClinGen ExAC TOPMed gnomAD
rs756697549 CA276639115	206	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7807259 rs375400644	206	A>V		No	ClinGen ExAC TOPMed gnomAD
rs762833838 CA7807257	207	A>G		No	ClinGen ExAC gnomAD
rs759381551 CA7807255	208	C>*		No	ClinGen ExAC TOPMed gnomAD
CA394178777 rs1454783649	208	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775329353 CA7807256	208	C>S		No	ClinGen ExAC gnomAD
CA394178748 rs1418552655	209	G>D		No	ClinGen gnomAD
CA7807253 rs771340303	209	G>R		No	ClinGen ExAC TOPMed gnomAD
rs771340303 CA7807252	209	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs917702750 CA276639051	210	S>R		No	ClinGen TOPMed gnomAD
CA7807250 COSM1708615 rs773465601	211	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs779507996 CA7807247	212	E>D		No	ClinGen ExAC TOPMed gnomAD
CA7807248 rs748555427	212	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7807246 rs755228580	213	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1596600732 CA394178652	214	V>G		No	ClinGen Ensembl
CA7807244 rs780808158	214	V>L		No	ClinGen ExAC TOPMed gnomAD
CA276639014 rs780808158	214	V>M		No	ClinGen ExAC TOPMed gnomAD
rs142109530 CA7807243	217	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1368270037 CA394178585	218	E>K		No	ClinGen gnomAD
rs965418486 CA276638990	220	E>Q		No	ClinGen Ensembl
rs954796172 CA276638978	221	F>I		No	ClinGen TOPMed
CA7807239 rs757945435	223	A>D		No	ClinGen ExAC gnomAD
TCGA novel	223	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765236752 CA7807237	224	N>D		No	ClinGen ExAC gnomAD
rs776639568 CA7807236	224	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1439557684 CA394178413	224	N>K		No	ClinGen gnomAD
rs776639568 CA7807235	224	N>S		No	ClinGen ExAC TOPMed gnomAD
CA394178418 rs776639568	224	N>T		No	ClinGen ExAC TOPMed gnomAD
rs555149094 CA7807234	225	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394178371 rs1452845711	227	E>K		No	ClinGen gnomAD
rs761027314 CA7807232	228	S>G		No	ClinGen ExAC TOPMed gnomAD
rs773592112 CA7807231	228	S>R		No	ClinGen ExAC TOPMed gnomAD
CA394178317 rs1263854507	229	P>L		No	ClinGen gnomAD
CA394178274 rs1203322478	232	E>K		No	ClinGen gnomAD
rs1280445347 CA394178246	233	E>G		No	ClinGen gnomAD
rs748266154 CA7807229	233	E>K		No	ClinGen ExAC TOPMed
rs367737359	234	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs367737359 CA7807224	234	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1345343048 CA394178222	234	I>T		No	ClinGen gnomAD
rs767626640 CA394178176	235	D>A		No	ClinGen ExAC gnomAD
rs767626640 CA7807189	235	D>G		No	ClinGen ExAC gnomAD
CA7807223 rs770547806	235	D>H		No	ClinGen ExAC gnomAD
CA7807222 rs770547806	235	D>N		No	ClinGen ExAC gnomAD
rs371843849 CA7807187	237	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1330913975 CA394178123	238	D>G		No	ClinGen TOPMed gnomAD
CA7807185 rs764185089	238	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs369589750 CA7807182	239	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369589750 CA7807183	239	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs777094302 CA7807180	240	D>E		No	ClinGen ExAC gnomAD
rs759891341 CA7807181	240	D>N		No	ClinGen ExAC gnomAD
rs1301651961 CA394178080	240	D>V		No	ClinGen TOPMed
CA394178050 rs1158695131	242	G>E		No	ClinGen gnomAD
CA394178056 rs1412941724	242	G>R		No	ClinGen gnomAD
CA394178044 rs1470872373	243	R>G		No	ClinGen gnomAD
CA7807179 rs747184246	245	F>C		No	ClinGen ExAC gnomAD
TCGA novel	245	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394177959 rs1596600298	247	N>T		No	ClinGen Ensembl
rs1255314666 CA394177938	248	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA394177942 rs1255314666	248	P>R		No	ClinGen gnomAD
rs773909730 CA7807176	249	N>S		No	ClinGen ExAC gnomAD
CA7807175 rs768217236	251	P>A		No	ClinGen ExAC TOPMed gnomAD
rs756184815 CA7807172	254	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1248125084 CA394177815	255	T>I		No	ClinGen TOPMed
rs1248125084 CA394177818	255	T>S		No	ClinGen TOPMed
CA394177803 rs965534530	256	R>P		No	ClinGen Ensembl
CA276638527 rs965534530	256	R>Q		No	ClinGen Ensembl
rs375746230 CA7807170	256	R>W		No	ClinGen ESP ExAC gnomAD
TCGA novel	257	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394176744 rs1420686604	257	L>P		No	ClinGen gnomAD
rs761089652 CA7807136	258	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1188822236 CA394176709	259	S>L		No	ClinGen gnomAD
CA394176666 rs1254257889	261	T>I		No	ClinGen gnomAD
rs974457986 CA276638152	262	D>V		No	ClinGen Ensembl
rs140660894 CA7807131	264	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7807132 rs762739691	264	S>R		No	ClinGen ExAC gnomAD
rs758972532 CA7807130	266	A>E		No	ClinGen ExAC TOPMed
rs758972532 CA7807129	266	A>V		No	ClinGen ExAC TOPMed
CA394176509 rs1356816424	267	S>F		No	ClinGen TOPMed gnomAD
CA394176460 rs1446863827	268	E>D		No	ClinGen gnomAD
CA7807126 rs541645850	268	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA7807125 rs746790250	269	D>G		No	ClinGen ExAC TOPMed gnomAD
CA394176409 rs146706209	270	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs146706209 CA7807124	270	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs748329950 CA7807122	271	G>R		No	ClinGen ExAC gnomAD
CA7807121 rs779116564	272	P>S		No	ClinGen ExAC gnomAD
CA394176270 rs202213592	274	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7807120 rs202213592	274	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394176253 rs1596599604	274	A>V		No	ClinGen Ensembl
CA7807117 rs756617053	275	E>K		No	ClinGen ExAC gnomAD
rs756617053 CA7807118	275	E>Q		No	ClinGen ExAC gnomAD
COSM1375953 CA7807116 rs61738797	276	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs756466153 COSM1198168 CA7807115	276	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs372878190 CA7807113	277	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs776069690 CA7807110	278	G>E		No	ClinGen ExAC TOPMed gnomAD
rs759070346 CA7807111 CA7807112	278	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7807108 rs770879993	280	S>R		No	ClinGen ExAC
rs999393379 CA276638006	281	S>R		No	ClinGen TOPMed gnomAD
CA7807107 rs369392328	282	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	283	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773165987 CA7807106	283	C>G		No	ClinGen ExAC gnomAD
CA7807105 rs750014403	285	E>*		No	ClinGen ExAC gnomAD
CA7807104 rs747955611	286	E>K		No	ClinGen ExAC gnomAD
CA7807103 rs779096350	287	E>K		No	ClinGen ExAC gnomAD
rs376608310 CA7807101	288	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA394175805 rs1567177719	289	T>A		No	ClinGen Ensembl
rs780044626 CA7807100	289	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1410520088 CA394175767	290	Q>H		No	ClinGen gnomAD
rs756236561 CA7807099	291	G>E		No	ClinGen ExAC gnomAD
CA7807096 rs199925239	292	R>L		No	ClinGen ExAC TOPMed gnomAD
rs199925239 CA276637938	292	R>P		No	ClinGen ExAC TOPMed gnomAD
rs199925239 CA7807097	292	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750916655 CA7807098	292	R>W		No	ClinGen ExAC TOPMed gnomAD
CA394175685 rs1214048075	293	G>V		No	ClinGen gnomAD
CA7807095 rs752026867	294	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7807093 rs764937793	295	E>K		No	ClinGen ExAC gnomAD
rs1314803472 CA394175586	296	A>G		No	ClinGen TOPMed
rs759162467 CA7807091	296	A>T		No	ClinGen ExAC TOPMed gnomAD
rs912846367 CA276637932	297	R>K		No	ClinGen Ensembl
CA394175549 rs1377379057	297	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7807089 rs538505038	298	A>D		No	ClinGen 1000Genomes ExAC gnomAD
CA394175545 rs1296066947	298	A>T		No	ClinGen TOPMed
rs538505038 CA7807090	298	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7807087 rs144870392	299	P>L		No	ClinGen ESP ExAC gnomAD
CA7807086 rs144870392	299	P>Q		No	ClinGen ESP ExAC gnomAD
rs760237348 CA7807088	299	P>S		No	ClinGen ExAC TOPMed gnomAD
CA394175385 rs1596599369	302	V>G		No	ClinGen Ensembl
CA7807084 rs774173965	302	V>I		No	ClinGen ExAC gnomAD
CA7807083 rs768898049	303	W>C		No	ClinGen ExAC gnomAD
CA7807082 rs371493174	305	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs775807637 CA7807081	305	G>V		No	ClinGen ExAC gnomAD
TCGA novel	308	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7807077 rs781761118	309	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1375952 CA7807078 rs149957870	309	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs757903636 CA7807076	311	R>G		No	ClinGen ExAC gnomAD
TCGA novel	312	D>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7807074 rs747345617	313	D>G		No	ClinGen ExAC TOPMed gnomAD
rs765578688 CA7807073	313	D>L		No	ClinGen ExAC gnomAD
rs1491377397 CA7807072	313	D>R		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9UJK0

2 regional properties for Q9UJK0

Type	Name	Position	InterPro Accession
domain	16S/18S rRNA aminocarboxypropyltransferase Tsr3, C-terminal	96 - 222	IPR007177
domain	RNase L inhibitor RLI-like, possible metal-binding domain	60 - 91	IPR007209

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

3 GO annotations of molecular function

Name	Definition
18S rRNA aminocarboxypropyltransferase activity	Catalysis of the reaction: N1-methylpseudouridine in 18S rRNA + S-adenosyl-L-methionine = H+ + N1-methyl-N3-[(3S)-3-amino-3-carboxypropyl]pseudouridine in 18S rRNA + S-methyl-5'-thioadenosine.
S-adenosyl-L-methionine binding	Binding to S-adenosyl-L-methionine.
transferase activity	Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2.

3 GO annotations of biological process

Name	Definition
enzyme-directed rRNA pseudouridine synthesis	The intramolecular conversion of uridine to pseudouridine during ribosome biogenesis where the enzyme specifies the site that becomes pseudouridylated without using a guide RNA.
maturation of SSU-rRNA	Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule.
rRNA modification	The covalent alteration of one or more nucleotides within an rRNA molecule to produce an rRNA molecule with a sequence that differs from that coded genetically.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5HZH2	Tsr3	18S rRNA aminocarboxypropyltransferase	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGRRRAARGP	GAEGGRPRHL	PTRSLEAFAE	EVGAALQASV	EPGAADGEGG	PGPAALPCTL
70	80	90	100	110	120
AMWELGHCDP	RRCTGRKLAR	LGLVRCLRLG	HRFGGLVLSP	VGKQYASPAD	RQLVAQSGVA
130	140	150	160	170	180
VIDCSWARLD	ETPFGKMRGS	HLRLLPYLVA	ANPVNYGRPY	RLSCVEAFAA	TFCIVGFPDL
190	200	210	220	230	240
AVILLRKFKW	GKGFLDLNRQ	LLDKYAACGS	PEEVLQAEQE	FLANAKESPQ	EEEIDPFDVD
250	260	270	280	290	300
SGREFGNPNR	PVASTRLPSD	TDDSDASEDP	GPGAERGGAS	SSCCEEEQTQ	GRGAEARAPA
310
EVWKGIKKRQ	RD