AiPD: Autoinhibited Protein Database

Q9H9T3

Gene name	ELP3
Protein name	Elongator complex protein 3
Names	hELP3, tRNA uridine(34) acetyltransferase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55140
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

3-72 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

3-72 (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 Q9H9T3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H9T3-F1	Predicted				AlphaFoldDB

395 variants for Q9H9T3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs190129217 CA4694424 COSM1331037 RCV001095514	462	R>H	ovary Variant assessed as Somatic; 0.0 impact. Amyotrophic lateral sclerosis [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA4693994 rs199785945	2	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1183148579 CA370833107	3	Q>*		No	ClinGen TOPMed
CA370833111 rs1563241493	3	Q>R		No	ClinGen Ensembl
rs1173455559 CA370833123	5	R>G		No	ClinGen gnomAD
CA174303897 rs557145550	6	K>Q		No	ClinGen 1000Genomes
rs745685451 CA4693997	6	K>R		No	ClinGen ExAC gnomAD
TCGA novel	7	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370833136 rs1433228900	7	G>R		No	ClinGen gnomAD
CA370833587 rs1365431164	11	P>L		No	ClinGen gnomAD
TCGA novel	12	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4694022 rs769518295	15	M>I		No	ClinGen ExAC gnomAD
CA370833629 rs1169391975	15	M>V		No	ClinGen gnomAD
rs779734365 CA4694026	19	I>M		No	ClinGen ExAC TOPMed gnomAD
CA4694025 rs771468946	19	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4694027 rs560647549	21	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370833734 rs1302761166	22	V>I		No	ClinGen TOPMed
CA4694028 rs772476943	23	I>V		No	ClinGen ExAC gnomAD
CA370833804 rs1351528901	27	I>T		No	ClinGen TOPMed
rs764296715 CA4694031	27	I>V		No	ClinGen ExAC gnomAD
rs1399859184 CA370833822	28	E>D		No	ClinGen TOPMed
CA370833809 rs1251705322	28	E>K		No	ClinGen gnomAD
rs762715756 CA4694033	31	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1563243952 CA370833872	32	Q>P		No	ClinGen Ensembl
CA370833918 rs1452178893	35	D>Y		No	ClinGen TOPMed
CA370833948 rs754899290	37	D>H		No	ClinGen ExAC TOPMed gnomAD
COSM1098848 rs754899290 CA4694036	37	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA174306397 rs982620212	38	L>I		No	ClinGen TOPMed
rs752242709 CA4694038	39	N>T		No	ClinGen ExAC gnomAD
rs756910751 CA4694062	41	V>L		No	ClinGen ExAC gnomAD
CA4694063 rs185083326	44	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs746240180 CA4694064	45	T>I		No	ClinGen ExAC gnomAD
rs746240180 CA174308292	45	T>R		No	ClinGen ExAC gnomAD
CA4694065 rs138901239	46	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs142813806 CA4694066	47	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs747557089 CA4694067	48	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA4694068 rs563980825	49	Y>C		No	ClinGen 1000Genomes ExAC
CA4694071 rs769996799	50	G>D		No	ClinGen ExAC gnomAD
CA4694070 rs369833328	50	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA370834835 rs1429839636	51	L>V		No	ClinGen TOPMed
CA4694073 rs759348494	53	A>S		No	ClinGen ExAC gnomAD
CA4694075 rs775380211	54	Q>H		No	ClinGen ExAC gnomAD
CA4694076 rs760650877	55	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4694077 rs529488325	56	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569297362 CA4694078	56	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA370834919 rs1264170607	57	L>P		No	ClinGen TOPMed
CA370834973 rs1316298912	61	I>T		No	ClinGen TOPMed
rs750081807 CA4694081	64	V>I		No	ClinGen ExAC TOPMed gnomAD
CA370835031 rs1585631654	66	P>R		No	ClinGen Ensembl
rs758766103 CA370835045	67	Q>L		No	ClinGen ExAC gnomAD
CA4694083 rs758766103	67	Q>R		No	ClinGen ExAC gnomAD
rs780231076 CA4694084	68	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA370835069 rs1266456486	69	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1098849 rs139135365 CA4694085	69	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA174308430 rs139135365	69	R>L		No	ClinGen ESP ExAC gnomAD
CA174308448 rs752125636	70	K>R		No	ClinGen Ensembl
CA370835137 rs781671040	74	P>H		No	ClinGen ExAC gnomAD
CA4694087 rs781671040	74	P>L		No	ClinGen ExAC gnomAD
rs367851292 CA4694088	78	A>V		No	ClinGen ExAC gnomAD
rs1383371725 CA370835224	81	I>T		No	ClinGen TOPMed
CA4694090 rs773464578	81	I>V		No	ClinGen ExAC gnomAD
rs749424969 CA4694091	85	S>G		No	ClinGen ExAC TOPMed gnomAD
rs771002069 CA4694111	87	I>T		No	ClinGen ExAC TOPMed gnomAD
rs562925451 CA174313562	88	A>T		No	ClinGen 1000Genomes
CA174313566 rs911574826	88	A>V		No	ClinGen TOPMed
CA4694113 rs746796082	90	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4694114 rs746796082	90	V>M		No	ClinGen ExAC TOPMed gnomAD
rs776686527 CA4694115	92	V>G		No	ClinGen ExAC gnomAD
CA370836433 rs1409629202	92	V>M		No	ClinGen gnomAD
CA4694116 rs761605149	93	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1240077634 CA370836441	93	M>T		No	ClinGen gnomAD
CA370836439 rs761605149	93	M>V		No	ClinGen ExAC TOPMed gnomAD
rs769798781 CA4694117	94	C>S		No	ClinGen ExAC TOPMed gnomAD
CA174313602 rs926081354	95	K>I		No	ClinGen Ensembl
CA174313612 rs936147651	101	H>L		No	ClinGen TOPMed gnomAD
rs1056015085 CA174313620	102	I>S		No	ClinGen Ensembl
CA4694120 rs370455922	103	S>N		No	ClinGen ESP ExAC gnomAD
CA370836537 rs1249415287	105	T>I		No	ClinGen gnomAD
CA4694123 rs767823788	107	N>T		No	ClinGen ExAC gnomAD
rs143946124 CA4694124	108	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756514873 CA4694125	108	I>M		No	ClinGen ExAC TOPMed
CA4694126 rs374512748	109	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA370836615 rs1352902045	114	G>A		No	ClinGen gnomAD
rs761161057 CA4694145	116	P>S		No	ClinGen ExAC gnomAD
TCGA novel	119	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370836672 rs1375228987	122	Y>S		No	ClinGen gnomAD
CA370836713 rs1375406708	126	S>A		No	ClinGen TOPMed
CA4694148 rs774948039	127	Y>*		No	ClinGen ExAC gnomAD
TCGA novel	127	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201540756 CA4694150	130	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs201540756 CA4694151	130	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA4694168 rs750469192	133	T>P		No	ClinGen ExAC gnomAD
CA4694171 rs146883856	135	M>V		No	ClinGen ESP ExAC gnomAD
CA4694172 rs140697794	136	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA370837132 rs1209840083	137	A>G		No	ClinGen gnomAD
rs554926933 CA4694173	138	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs554926933 CA4694174	138	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs757132276 CA4694175	139	R>C		No	ClinGen ExAC TOPMed gnomAD
CA370837140 rs757132276	139	R>G		No	ClinGen ExAC TOPMed gnomAD
rs144486746 CA4694176	139	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779572665 CA4694178	143	D>H		No	ClinGen ExAC gnomAD
rs779572665 CA174316366	143	D>Y		No	ClinGen ExAC gnomAD
rs1046855986 CA174316385	147	Q>*		No	ClinGen gnomAD
CA370837194 rs1292881083	147	Q>H		No	ClinGen gnomAD
TCGA novel	147	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4694180 rs746622767	148	T>K		No	ClinGen ExAC gnomAD
CA4694181 rs768224134	151	R>*		No	ClinGen ExAC gnomAD
rs776985748 CA4694182	151	R>Q	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs371417819 CA174316425	152	I>V		No	ClinGen ESP gnomAD
CA370837277 rs1393762477	158	L>F		No	ClinGen TOPMed
rs770318309 CA4694201	160	H>R		No	ClinGen ExAC TOPMed gnomAD
CA174318159 rs1033751364	166	E>D		No	ClinGen TOPMed
rs773829413 CA4694202	166	E>G		No	ClinGen ExAC
rs1180313290 CA370837345	168	I>V		No	ClinGen gnomAD
CA370837353 rs1245086293 CA370837351	169	V>L		No	ClinGen TOPMed gnomAD
rs1191385644 CA370837361	170	M>T		No	ClinGen TOPMed
CA4694203 rs763518223	171	G>V		No	ClinGen ExAC TOPMed gnomAD
CA370837375 rs1164201592	172	G>A		No	ClinGen gnomAD
CA370837378 rs1389420251	173	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1264016846 CA370837382 COSM184544	173	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	174	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4694206 rs774433908	175	M>I		No	ClinGen ExAC gnomAD
rs906438552 CA174318192	175	M>R		No	ClinGen Ensembl
rs759596222 CA4694207	176	A>V		No	ClinGen ExAC gnomAD
rs1004762356 CA370837410	178	P>A		No	ClinGen TOPMed
rs1004762356 CA174318222	178	P>T		No	ClinGen TOPMed
rs1014511723 CA174318225	181	Y>H		No	ClinGen Ensembl
CA4694208 rs558176342	183	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA174318238 rs963008300	184	Y>N		No	ClinGen Ensembl
rs752958659 COSM1098851 CA4694209	187	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs761573732 CA4694210	187	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4694211 rs764963190	190	H>L		No	ClinGen ExAC gnomAD
CA370837525 rs1217631641	195	G>R		No	ClinGen gnomAD
CA918228366 rs1585653528	196	H>M		No	ClinGen Ensembl
rs779866999 CA4694214	198	S>C		No	ClinGen ExAC
CA4694213 rs758288897	198	S>T		No	ClinGen ExAC gnomAD
CA370837553 rs1326580568	199	N>S		No	ClinGen TOPMed
rs1265222425 CA370837577	202	Y>C		No	ClinGen gnomAD
CA4694216 rs141040033	203	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	204	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370837595 rs1247380774	205	V>L		No	ClinGen gnomAD
CA174328101 rs1029734411	207	Y>C		No	ClinGen Ensembl
rs1367067109 CA370838408	208	S>A		No	ClinGen TOPMed
rs762712586 CA4694230	212	L>F		No	ClinGen ExAC TOPMed gnomAD
rs766334482 CA4694231	215	C>Y		No	ClinGen ExAC gnomAD
CA370838505 rs1438573385	216	I>V		No	ClinGen TOPMed
TCGA novel	217	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs954508337 CA174328125	217	G>R		No	ClinGen Ensembl
rs1358161427 CA370838535	218	I>S		No	ClinGen Ensembl
CA4694232 COSM325251 rs751488878	220	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	223	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370838600 rs1480587283	224	P>A		No	ClinGen gnomAD
rs376894589 CA370838639	227	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4694233 rs376894589	227	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000509241 rs764649021	229	K>missing		No	ClinVar dbSNP
CA174328144 rs752857986	230	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4694235 rs370366449	230	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA174328155 rs989820879	232	L>*		No	ClinGen TOPMed gnomAD
CA370838696 rs989820879	232	L>S		No	ClinGen TOPMed gnomAD
CA370838718 rs1403528273	233	S>R		No	ClinGen gnomAD
rs559465069 CA174328161	235	M>L		No	ClinGen 1000Genomes TOPMed
rs1305292699 CA370838736	235	M>T		No	ClinGen gnomAD
rs559465069 CA370838734	235	M>V		No	ClinGen 1000Genomes TOPMed
CA4694236 rs752263926	237	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1021281378 CA174328167	238	Y>*		No	ClinGen TOPMed
CA174328170 rs868293898	240	C>Y		No	ClinGen Ensembl
CA4694237 rs755774560	241	T>A		No	ClinGen ExAC gnomAD
CA370838776 rs1352949231	241	T>R		No	ClinGen gnomAD
rs749662584 CA4694239	243	L>P		No	ClinGen ExAC gnomAD
CA370838799 rs1220129164	245	I>L		No	ClinGen gnomAD
rs1270830958 CA370838801	245	I>T		No	ClinGen TOPMed gnomAD
rs1488858854 CA370838815	247	V>A		No	ClinGen TOPMed
CA370838814 rs1488858854	247	V>G		No	ClinGen TOPMed
rs1181086420 CA370838819	248	Q>P		No	ClinGen gnomAD
rs779454906 CA4694241	249	S>G		No	ClinGen ExAC TOPMed gnomAD
CA4694242 rs150222220	249	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1585679932 CA370838829	249	S>R		No	ClinGen Ensembl
rs1311790837 CA370838836	251	Y>H		No	ClinGen TOPMed
TCGA novel	253	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775480090 CA4694244	256	R>K		No	ClinGen ExAC gnomAD
rs747105010 CA4694245	257	D>E		No	ClinGen ExAC gnomAD
CA4694263 rs780595629	261	G>D		No	ClinGen ExAC TOPMed gnomAD
CA4694262 rs758844650	261	G>S		No	ClinGen ExAC gnomAD
rs1338035014 CA370838943	264	V>A		No	ClinGen TOPMed
rs1166465206 CA370838940	264	V>M		No	ClinGen gnomAD
CA370838962 rs1399054143	267	V>A		No	ClinGen gnomAD
CA174329628 rs866987228	268	C>G		No	ClinGen Ensembl
rs1053943345 CA174329629	271	F>L		No	ClinGen TOPMed
CA370838988 rs1410782619	271	F>S		No	ClinGen gnomAD
CA4694266 rs781450721	273	L>P		No	ClinGen ExAC gnomAD
CA370839001 rs1333750087	273	L>V		No	ClinGen gnomAD
rs867667800 CA174329644	274	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4694269 rs773962755	278	G>A		No	ClinGen ExAC
rs770082832 CA370839032	278	G>C		No	ClinGen ExAC TOPMed
rs770082832 CA4694268	278	G>S		No	ClinGen ExAC TOPMed
CA4694270 rs759464706	281	V>M		No	ClinGen ExAC TOPMed gnomAD
rs772135398 CA4694271	283	A>P		No	ClinGen ExAC TOPMed gnomAD
CA370839062 rs772135398	283	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1250650802 CA370839068	284	H>Y		No	ClinGen TOPMed
TCGA novel rs763648850 CA4694274	285	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC
rs372074866 CA4694273	285	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1585684243 CA370839100	288	D>A		No	ClinGen Ensembl
rs1459593366 CA370839116	291	N>H		No	ClinGen gnomAD
CA4694276 rs761306790	292	V>M		No	ClinGen ExAC gnomAD
CA370839132 rs1428491868	293	G>E		No	ClinGen gnomAD
CA174329690 rs976175317	296	R>G		No	ClinGen TOPMed
TCGA novel	297	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370839165 RCV000509441 rs764954376	298	I>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA4694277 rs764954376	298	I>T		No	ClinGen ExAC TOPMed gnomAD
CA174329693 rs779432524	298	I>V		No	ClinGen Ensembl
rs1382931840 CA370839190	301	F>L		No	ClinGen TOPMed
CA4694290 rs772045344	304	F>C		No	ClinGen ExAC TOPMed gnomAD
rs1451643326 CA370839230	305	F>L		No	ClinGen gnomAD
rs1177384437 CA370839224	305	F>L		No	ClinGen gnomAD
CA4694291 rs775448667	305	F>S		No	ClinGen ExAC gnomAD
CA370839245 rs1485010596	307	N>K		No	ClinGen TOPMed
rs574385140 CA4694293	308	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768644809 CA4694294	309	A>G		No	ClinGen ExAC gnomAD
CA4694295 rs775947064	311	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761443097 CA4694296	311	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1226967852 CA370839278	313	D>G		No	ClinGen TOPMed
CA174332539 rs138279928	313	D>N		No	ClinGen ESP TOPMed gnomAD
CA4694300 rs147430268	316	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4694302 rs755409568	318	Y>C		No	ClinGen ExAC gnomAD
CA4694304 rs752718180	319	P>S		No	ClinGen ExAC gnomAD
rs1249997208 CA370839333	320	T>I		No	ClinGen TOPMed gnomAD
CA370839329 rs1249997208	320	T>N		No	ClinGen TOPMed gnomAD
CA4694305 rs756261367	322	V>M		No	ClinGen ExAC gnomAD
rs749474343 CA4694307	324	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757584722 CA4694308	324	R>H		No	ClinGen ExAC TOPMed gnomAD
rs757584722 CA370839368	324	R>L		No	ClinGen ExAC TOPMed gnomAD
rs369506690 CA174332584	326	T>I		No	ClinGen ESP
rs1341969671 CA370839382	326	T>S		No	ClinGen gnomAD
CA370839392 rs1293764216	327	G>E		No	ClinGen gnomAD
CA4694310 rs185393822	327	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs939739044 CA174332586	329	Y>C		No	ClinGen Ensembl
CA174332589 rs1038088903	332	W>*		No	ClinGen gnomAD
rs1167040406 CA370839441	332	W>R		No	ClinGen TOPMed
rs756377003 CA4694313	337	Y>*		No	ClinGen ExAC gnomAD
rs747580164 CA370839501	337	Y>*		No	ClinGen ExAC TOPMed
CA370839490 rs1425311835	337	Y>H		No	ClinGen TOPMed
CA370839505 rs1316960715	338	K>E		No	ClinGen gnomAD
rs1237502495 CA370839512	338	K>N		No	ClinGen TOPMed
rs769394752 CA4694315	341	S>F		No	ClinGen ExAC gnomAD
rs1245958798 CA370839539	341	S>T		No	ClinGen gnomAD
CA174332615 rs997438110	342	P>A		No	ClinGen TOPMed gnomAD
rs772727526 CA4694316	342	P>L		No	ClinGen ExAC TOPMed gnomAD
rs772727526 CA370839552	342	P>R		No	ClinGen ExAC TOPMed gnomAD
CA370839547 rs997438110	342	P>T		No	ClinGen TOPMed gnomAD
CA4694317 rs762548888	345	L>R		No	ClinGen ExAC gnomAD
rs1210096915 CA370839612	348	L>S		No	ClinGen TOPMed gnomAD
CA370839618 rs1479805172	349	V>L		No	ClinGen gnomAD
rs201078315 CA4694321	351	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs760016336 CA4694320	351	R>W		No	ClinGen ExAC TOPMed gnomAD
rs753301280 CA370839653	353	L>V		No	ClinGen ExAC gnomAD
rs1182916512 CA370839661	354	A>T		No	ClinGen gnomAD
CA174332655 rs1008526015	355	L>V		No	ClinGen TOPMed
rs764195296 CA4694324	356	V>M		No	ClinGen ExAC gnomAD
rs757498383 CA4694326	361	R>*		No	ClinGen ExAC gnomAD
rs372519814 CA4694327	362	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA174332693 rs979470376	364	R>*		No	ClinGen gnomAD
rs1585693329 CA370839755	364	R>Q		No	ClinGen Ensembl
rs1412729687 CA370839912	369	I>V		No	ClinGen gnomAD
rs199903018 CA370839925	371	M>L		No	ClinGen ExAC TOPMed gnomAD
rs199903018 CA4694343	371	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4694345 rs141713695	374	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1449480074 CA370839962	376	S>*		No	ClinGen gnomAD
CA370839981 rs1172034404	379	E>G		No	ClinGen TOPMed
CA174308848 rs959181955	380	H>R		No	ClinGen TOPMed
CA174308856 rs746560423	382	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1021985398 CA174308885	385	E>K		No	ClinGen TOPMed
rs750706913 CA4694350	387	A>G		No	ClinGen ExAC TOPMed gnomAD
rs370302582 CA4694351	389	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	390	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370840132 rs1194222484	391	M>I		No	ClinGen TOPMed
CA370840148 rs1461814066	392	K>N		No	ClinGen gnomAD
rs1241376932 CA370840178	394	L>H		No	ClinGen gnomAD
TCGA novel	395	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373841521 CA4694354	395	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	396	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1358482789 CA370840360	398	C>F		No	ClinGen gnomAD
CA370840367 rs1373874342	399	R>*		No	ClinGen TOPMed
rs150536379 CA4694387	399	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs767558641 CA174310761	409	Q>*		No	ClinGen Ensembl
TCGA novel	410	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370840496 rs1230733010	411	I>F		No	ClinGen gnomAD
rs770424664 CA4694388	412	H>R		No	ClinGen ExAC gnomAD
CA370840550 rs1179816552	415	V>L		No	ClinGen gnomAD
rs773281207 CA4694389	416	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA370840558 rs1385090123	416	R>W		No	ClinGen TOPMed gnomAD
CA4694390 rs762997711	419	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	420	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757887813 CA4694400	423	V>I		No	ClinGen ExAC gnomAD
rs779733191 CA4694401	424	R>S		No	ClinGen ExAC TOPMed gnomAD
rs746609852 CA4694403	426	D>G		No	ClinGen ExAC TOPMed gnomAD
rs746609852 CA4694402	426	D>V		No	ClinGen ExAC TOPMed gnomAD
CA4694404 rs781634942	428	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1349892590 CA370840712	429	A>T		No	ClinGen TOPMed
CA4694405 rs577363460	430	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4694406 rs770408011	431	G>C		No	ClinGen ExAC gnomAD
rs770408011 CA370840724	431	G>R		No	ClinGen ExAC gnomAD
CA370840737 rs1585726199	433	W>*		No	ClinGen Ensembl
CA4694407 rs773656129	434	E>G		No	ClinGen ExAC TOPMed gnomAD
CA4694409 rs770869260	435	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	436	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370840758 rs1446811105	436	F>Y		No	ClinGen gnomAD
CA174312350 rs975518217	439	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs143180664 CA4694412	440	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370840808 rs1327208541	443	D>G		No	ClinGen TOPMed
rs1427366610 CA370840804 COSM3942627	443	D>N	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA174312382 rs201867405	444	Q>K		No	ClinGen TOPMed gnomAD
rs765191984 CA4694415	446	I>V		No	ClinGen ExAC gnomAD
CA4694416 rs750374095	448	I>N		No	ClinGen ExAC TOPMed gnomAD
rs1400305578 CA370840846	449	G>S		No	ClinGen TOPMed gnomAD
CA4694418 rs765496547	452	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA370840864 rs1563280253	452	R>Q		No	ClinGen Ensembl
CA4694419 rs751119272	454	R>C	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4694420 rs754614952	454	R>H		No	ClinGen ExAC TOPMed gnomAD
rs781045632 CA4694421	455	K>R		No	ClinGen ExAC gnomAD
CA4694423 rs756472262	458	E>D		No	ClinGen ExAC TOPMed gnomAD
CA4694422 rs576498626	458	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199876498 CA174312453	460	T>A		No	ClinGen TOPMed gnomAD
rs1563280308 CA370840949	461	F>L		No	ClinGen Ensembl
rs1563280302 CA370840946	461	F>S		No	ClinGen Ensembl
COSM1187515 CA174312479 rs367635310	462	R>C	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs190129217 CA4694425	462	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774361661 CA4694428	464	E>*		No	ClinGen ExAC TOPMed gnomAD
COSM184558 rs774361661 CA4694427	464	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs772278802 CA4694429	465	L>F		No	ClinGen ExAC TOPMed gnomAD
CA174312569 rs552066197	466	G>C		No	ClinGen gnomAD
rs552066197 CA370840994	466	G>S		No	ClinGen gnomAD
rs922912526 CA174312572	467	G>E		No	ClinGen Ensembl
CA4694431 rs761575706	468	G>C		No	ClinGen ExAC
CA370841044 rs745492497	471	I>L		No	ClinGen TOPMed gnomAD
CA174312589 rs935325126	471	I>R		No	ClinGen Ensembl
CA174312588 COSM1173400 rs745492497	471	I>V	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA370841062 rs1363266274	473	R>*		No	ClinGen gnomAD
CA4694432 rs769425829	473	R>Q		No	ClinGen ExAC gnomAD
rs762731152 CA4694434	476	H>R		No	ClinGen ExAC gnomAD
CA370841114 rs1376424755	478	Y>F		No	ClinGen TOPMed
rs1302173912 CA580955574	479	G>V		No	ClinGen gnomAD
CA370841124 rs1312696991	479	G>W		No	ClinGen TOPMed
CA4694435 rs377224521	480	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1301420833 CA370841163	483	P>T		No	ClinGen gnomAD
rs1334646695 CA370841186	485	S>N		No	ClinGen gnomAD
rs1237613039 CA370841199	486	S>N		No	ClinGen gnomAD
rs139093061 CA370841204	487	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144555248 CA4694438	487	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs139093061 CA4694437	487	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1175103164 CA370841219	488	D>E		No	ClinGen TOPMed
CA4694439 rs752444098	488	D>N		No	ClinGen ExAC gnomAD
rs1489609858 CA370841246	491	K>T		No	ClinGen gnomAD
rs1045199643 CA174312638	494	H>Y		No	ClinGen Ensembl
CA370841296 rs1249995323	495	Q>H		No	ClinGen gnomAD
CA4694441 rs777937073	495	Q>K		No	ClinGen ExAC gnomAD
rs1452620471 CA370841724	496	G>E		No	ClinGen gnomAD
CA370841747 rs1442382802	498	G>C		No	ClinGen TOPMed
rs779372505 CA4694465	499	M>I		No	ClinGen ExAC gnomAD
CA174314152 rs1043486580	499	M>T		No	ClinGen TOPMed
CA370841762 rs1381818305	499	M>V		No	ClinGen gnomAD
rs750882576 CA4694466	500	L>P		No	ClinGen ExAC TOPMed gnomAD
rs750882576 CA370841785	500	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs899322225 CA174314157	502	M>T		No	ClinGen TOPMed
CA370841855 rs1295166188	504	E>V		No	ClinGen gnomAD
rs1306023478 CA370841868	505	A>T		No	ClinGen gnomAD
CA370841891 rs1220673340	506	E>*		No	ClinGen gnomAD
rs1251417895 CA370841907	507	R>G		No	ClinGen TOPMed gnomAD
CA174314164 rs925062130	507	R>S		No	ClinGen Ensembl
rs561676502 CA4694467	508	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs561676502 CA4694468	508	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA4694469 rs747121955	514	G>R		No	ClinGen ExAC gnomAD
CA4694470 rs768743297	515	S>F		No	ClinGen ExAC gnomAD
CA4694471 rs781543066	516	G>R		No	ClinGen ExAC TOPMed gnomAD
rs781543066 CA370842054	516	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1339826314 CA370842069	517	K>R		No	ClinGen TOPMed
rs1260733673 CA370842089	519	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1383998703 CA370842126	522	S>P		No	ClinGen TOPMed
rs376342188 CA4694508	523	G>E		No	ClinGen ESP ExAC gnomAD
rs1563297631 CA370845551	524	V>I		No	ClinGen Ensembl
CA370845569 rs1385073095	525	G>S		No	ClinGen TOPMed gnomAD
CA370845674 rs371091935	531	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA174334070 rs1013927227	534	G>S		No	ClinGen TOPMed gnomAD
rs778851221 CA174334075	535	Y>C		No	ClinGen gnomAD
CA370845802 rs1563297724	538	Q>R		No	ClinGen Ensembl
CA4694515 rs201988357	540	P>L		No	ClinGen ExAC TOPMed gnomAD
rs201988357 CA370845831	540	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1166476055 CA370845840	541	Y>H		No	ClinGen TOPMed
rs1563297756 CA370845853	542	M>L		No	ClinGen Ensembl
CA370845862 rs1453105938	542	M>T		No	ClinGen Ensembl
CA370845854 rs1563297756	542	M>V		No	ClinGen Ensembl
CA370845881 rs1585773020	543	V>G		No	ClinGen Ensembl
rs768479770 CA4694518	544	K>M		No	ClinGen ExAC gnomAD
rs1217609259 CA370845907	545	M>K		No	ClinGen gnomAD
CA370845904 rs1356660302	545	M>L		No	ClinGen gnomAD
CA4694519 rs780692895	546	L>V		No	ClinGen ExAC gnomAD

1 associated diseases with Q9H9T3

[MIM: 105400]: Amyotrophic lateral sclerosis (ALS)

A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269|PubMed:18996918, ECO:0000305|PubMed:29415125}. Note=The gene represented in this entry may act as a disease modifier.

Without disease ID

A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269|PubMed:18996918, ECO:0000305|PubMed:29415125}. Note=The gene represented in this entry may act as a disease modifier.

4 regional properties for Q9H9T3

Type	Name	Position	InterPro Accession
domain	GNAT domain	396 - 547	IPR000182
domain	Elp3/MiaA/NifB-like, radical SAM core domain	89 - 351	IPR006638
domain	Radical SAM	36 - 547	IPR007197
domain	Radical SAM, C-terminal extension	312 - 392	IPR032432

Functions

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

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
elongator holoenzyme complex	A heterohexameric protein complex composed two discrete heterotrimeric subcomplexes that is involved in modification of wobble nucleosides in tRNA.
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.
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.

6 GO annotations of molecular function

Name	Definition
4 iron, 4 sulfur cluster binding	Binding to a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands.
acetyltransferase activity	Catalysis of the transfer of an acetyl group to an acceptor molecule.
metal ion binding	Binding to a metal ion.
phosphorylase kinase regulator activity	Modulation of the activity of the enzyme phosphorylase kinase.
tRNA binding	Binding to a transfer RNA.
tRNA uridine(34) acetyltransferase activity	Catalysis of the reaction: acetyl-CoA + H2O + S-adenosyl-L-methionine + uridine(34) in tRNA = 5'-deoxyadenosine + carboxymethyluridine(34) in tRNA + CoA + 2 H(+) + L-methionine.

7 GO annotations of biological process

Name	Definition
central nervous system development	The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord.
neuron migration	The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
regulation of translation	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation	The process whereby a wobble base uridine residue in a tRNA is modified to 5-methoxycarbonylmethyl-2-thiouridine.
tRNA wobble uridine modification	The process in which a uridine in position 34 of a tRNA is post-transcriptionally modified.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q02908	ELP3	Elongator complex protein 3	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q2KJ61	ELP3	Elongator complex protein 3	Bos taurus (Bovine)	PR
Q5ZHS1	ELP3	Elongator complex protein 3	Gallus gallus (Chicken)	PR
Q9CZX0	Elp3	Elongator complex protein 3	Mus musculus (Mouse)	PR
Q7X7L3	ELP3	Elongator complex protein 3	Oryza sativa subsp japonica (Rice)	PR
Q93ZR1	HAG3	Elongator complex protein 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q6NVL5	elp3	Elongator complex protein 3	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q5RIC0	elp3	Elongator complex protein 3	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MRQKRKGDLS	PAELMMLTIG	DVIKQLIEAH	EQGKDIDLNK	VKTKTAAKYG	LSAQPRLVDI
70	80	90	100	110	120
IAAVPPQYRK	VLMPKLKAKP	IRTASGIAVV	AVMCKPHRCP	HISFTGNICV	YCPGGPDSDF
130	140	150	160	170	180
EYSTQSYTGY	EPTSMRAIRA	RYDPFLQTRH	RIEQLKQLGH	SVDKVEFIVM	GGTFMALPEE
190	200	210	220	230	240
YRDYFIRNLH	DALSGHTSNN	IYEAVKYSER	SLTKCIGITI	ETRPDYCMKR	HLSDMLTYGC
250	260	270	280	290	300
TRLEIGVQSV	YEDVARDTNR	GHTVKAVCES	FHLAKDSGFK	VVAHMMPDLP	NVGLERDIEQ
310	320	330	340	350	360
FTEFFENPAF	RPDGLKLYPT	LVIRGTGLYE	LWKSGRYKSY	SPSDLVELVA	RILALVPPWT
370	380	390	400	410	420
RVYRVQRDIP	MPLVSSGVEH	GNLRELALAR	MKDLGIQCRD	VRTREVGIQE	IHHKVRPYQV
430	440	450	460	470	480
ELVRRDYVAN	GGWETFLSYE	DPDQDILIGL	LRLRKCSEET	FRFELGGGVS	IVRELHVYGS
490	500	510	520	530	540
VVPVSSRDPT	KFQHQGFGML	LMEEAERIAR	EEHGSGKIAV	ISGVGTRNYY	RKIGYRLQGP

YMVKMLK