AiPD: Autoinhibited Protein Database

Q8TBC4

Gene name	UBA3 (UBE1C)
Protein name	NEDD8-activating enzyme E1 catalytic subunit
Names	NEDD8-activating enzyme E1C, Ubiquitin-activating enzyme E1C, Ubiquitin-like modifier-activating enzyme 3, Ubiquitin-activating enzyme 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9039
EC number	6.2.1.64: Acid--thiol ligases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-58 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-58 (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

14 structures for Q8TBC4

Entry ID	Method	Resolution	Chain	Position	Source
1R4M	X-ray	300 A	B/D/F/H	33-463	PDB
1R4N	X-ray	360 A	B/D/F/H	33-463	PDB
1TT5	X-ray	260 A	B/D	33-463	PDB
1Y8X	X-ray	240 A	B	368-463	PDB
1YOV	X-ray	260 A	B/D	22-463	PDB
2LQ7	NMR	-	A	369-463	PDB
2NVU	X-ray	280 A	B	33-463	PDB
3DBH	X-ray	285 A	B/D/F/H	33-463	PDB
3DBL	X-ray	290 A	B/D/F/H	33-463	PDB
3DBR	X-ray	305 A	B/D/F/H	33-463	PDB
3FN1	X-ray	250 A	A	368-463	PDB
3GZN	X-ray	300 A	B/D	1-463	PDB
5JJM	X-ray	215 A	G/H/I/J	62-69	PDB
AF-Q8TBC4-F1	Predicted				AlphaFoldDB

339 variants for Q8TBC4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA2488454 rs746514816	2	A>G		No	ClinGen ExAC TOPMed gnomAD
CA353493907 rs746514816	2	A>V		No	ClinGen ExAC TOPMed gnomAD
rs758329768 CA2488452	3	D>E		No	ClinGen ExAC gnomAD
CA2488453 rs201512751	3	D>G		No	ClinGen ExAC TOPMed gnomAD
CA353493881 rs1214467963	4	G>A		No	ClinGen gnomAD
CA353493886 rs1219529442	4	G>S		No	ClinGen TOPMed
CA353493863 rs1331732729	5	E>D		No	ClinGen TOPMed gnomAD
rs185058809 CA2488449	5	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1261352029 CA353493875	5	E>K		No	ClinGen gnomAD
CA76477062 rs1031610365	6	E>*		No	ClinGen TOPMed
CA2488447 CA2488448 rs767842761	6	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1269180840 CA353493854	6	E>G		No	ClinGen gnomAD
CA2488445 rs762194370	7	P>L		No	ClinGen ExAC TOPMed gnomAD
CA353493843 rs762194370	7	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs762194370 CA353493841	7	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1488637724 CA353493846	7	P>S		No	ClinGen TOPMed
rs17852113 CA76476635 VAR_023945	9	K>R		No	ClinGen UniProt Ensembl dbSNP
rs1472051662	13	R>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA76476620 rs955701904	14	I>V		No	ClinGen TOPMed
rs1286033558 CA353493680	16	E>K		No	ClinGen TOPMed
CA353493641 rs1206707922	19	A>V		No	ClinGen gnomAD
TCGA novel	20	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353493156 rs1165899409	22	M>L		No	ClinGen TOPMed gnomAD
CA353493161 rs1165899409	22	M>V		No	ClinGen TOPMed gnomAD
CA353493137 rs1400531586	23	A>S		No	ClinGen gnomAD
CA76474540 rs74654177	24	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2488394 rs74654177	24	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA76474532 rs200824807	25	D>G		No	ClinGen gnomAD
CA353493051 rs1575850282	28	C>F		No	ClinGen Ensembl
rs1575850285 CA353493060	28	C>G		No	ClinGen Ensembl
rs775509839 CA2488392	30	D>G		No	ClinGen ExAC gnomAD
rs769908471 CA2488391	31	T>P		No	ClinGen ExAC gnomAD
CA353492924 rs1246969795	34	W>R		No	ClinGen gnomAD
CA353492869 rs1214803286	36	G>C		No	ClinGen gnomAD
CA2488390 rs745645311	36	G>D		No	ClinGen ExAC TOPMed gnomAD
CA76474494 rs759438986	37	R>L		No	ClinGen Ensembl
rs758523739 CA2488388	42	K>E		No	ClinGen ExAC TOPMed gnomAD
rs376817724 CA2488387	42	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	42	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2488386 rs779135289	44	F>L		No	ClinGen ExAC gnomAD
rs754980658 CA2488385	45	L>V		No	ClinGen ExAC gnomAD
CA2488384 rs753931440	46	E>K		No	ClinGen ExAC gnomAD
rs965427621 CA353492636	47	R>P		No	ClinGen TOPMed gnomAD
rs965427621 COSM194865 CA76474456	47	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2488383 rs766860858	50	P>L		No	ClinGen ExAC gnomAD
CA353492588 rs766860858	50	P>R		No	ClinGen ExAC gnomAD
CA353492560 rs1323005198	52	T>I		No	ClinGen gnomAD
rs756715446 CA2488382	54	P>A		No	ClinGen ExAC TOPMed gnomAD
CA353492526 rs1308624203	55	D>G		No	ClinGen TOPMed
CA353492530 rs1434470677	55	D>Y		No	ClinGen gnomAD
rs762107843 CA2488379	57	E>K		No	ClinGen ExAC gnomAD
rs762107843 CA353492513	57	E>Q		No	ClinGen ExAC gnomAD
CA353492503 rs751219527	58	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2488378 rs751219527	58	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs751219527 CA353492504	58	P>R		No	ClinGen ExAC TOPMed gnomAD
CA353492507 rs1447285264	58	P>T		No	ClinGen gnomAD
rs1264813810 CA353492483	61	E>D		No	ClinGen TOPMed
CA2488376 rs762537767	61	E>Q		No	ClinGen ExAC gnomAD
rs752231545 CA2488358 CA2488359	64	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA2488357 COSM1753376 rs139734072	65	F>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs758995057 CA2488356 CA76472307	66	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2488355 rs368391234	67	L>S		No	ClinGen ESP ExAC gnomAD
rs186063144 CA2488353	68	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770783430 CA2488354	68	D>H		No	ClinGen ExAC gnomAD
CA76472289 rs901646105	69	T>A		No	ClinGen Ensembl
rs142785164 CA2488352	69	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs142785164 CA353491574	69	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA353491502 rs1278307475	73	L>V		No	ClinGen TOPMed
CA2488351 rs768840184	74	V>I		No	ClinGen ExAC gnomAD
rs1371904155 CA353491467	75	I>V		No	ClinGen TOPMed
rs1228462979 CA353491412	77	A>V		No	ClinGen TOPMed
rs1372016217 COSM584594 CA353491385	79	G>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs781683002 CA2488346	80	L>I		No	ClinGen ExAC gnomAD
rs71302167 CA76472240	81	G>R		No	ClinGen Ensembl
rs757769324 CA2488345	84	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1458282851 CA353490731	89	A>G		No	ClinGen TOPMed gnomAD
CA2488325 rs747470220	90	L>W		No	ClinGen ExAC gnomAD
CA2488324 rs370213812	93	F>L		No	ClinGen ESP ExAC gnomAD
rs1306600084 CA353490701	94	R>T		No	ClinGen TOPMed gnomAD
TCGA novel	95	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1222097241 CA353490688	96	I>V		No	ClinGen gnomAD
CA353490673 rs1357424852	98	V>L		No	ClinGen gnomAD
rs1183012315 CA353490667	99	I>V		No	ClinGen gnomAD
rs972419137 CA76465255	101	M>T		No	ClinGen TOPMed gnomAD
CA353490653 rs1403372676	101	M>V		No	ClinGen TOPMed
rs1265584790 CA353490586	104	I>V		No	ClinGen TOPMed gnomAD
rs758765559 CA2488323	105	D>G		No	ClinGen ExAC gnomAD
TCGA novel	108	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748533431 CA2488322	116	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2488302 rs373464145	120	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2488303 rs772761153	120	I>V		No	ClinGen ExAC gnomAD
CA2488301 rs779187407	125	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2488300 rs768335934	131	F>L		No	ClinGen ExAC gnomAD
CA2488299 rs748847579	134	D>A		No	ClinGen ExAC gnomAD
rs946034197 CA76462052	134	D>H		No	ClinGen gnomAD
rs946034197 CA76462048	134	D>Y		No	ClinGen gnomAD
rs188636684 CA2488298	137	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1295096777 CA353489281	138	N>D		No	ClinGen gnomAD
CA353489273 rs796784390	139	C>G		No	ClinGen TOPMed gnomAD
rs796784390 CA76462032	139	C>S		No	ClinGen TOPMed gnomAD
TCGA novel	139	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755556287 CA2488297	140	N>D		No	ClinGen ExAC TOPMed gnomAD
CA2488295 rs11544139	143	P>L		No	ClinGen ExAC gnomAD
rs1417771485 CA353488900	144	H>R		No	ClinGen TOPMed
rs1336214821 CA353488902	144	H>Y		No	ClinGen gnomAD
CA76458705 rs1048278294	145	F>V		No	ClinGen Ensembl
rs1466657104 CA353488879	147	K>E		No	ClinGen TOPMed
rs1352195204 CA353488849	151	F>I		No	ClinGen TOPMed
rs563674334 CA2488280	152	N>H		No	ClinGen 1000Genomes ExAC gnomAD
CA353488837 rs141978953	152	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs745379565 CA2488279	152	N>S		No	ClinGen ExAC gnomAD
rs751411399 CA2488276	153	D>A		No	ClinGen ExAC gnomAD
rs756813799 CA2488277	153	D>N		No	ClinGen ExAC gnomAD
rs1472081118 CA353488825	154	T>N		No	ClinGen gnomAD
rs758067399 CA2488274	156	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2488273 rs752592107	157	R>*		No	ClinGen ExAC gnomAD
COSM173061 CA2488272 rs373601125	157	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs767658670 CA2488269	158	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	159	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	160	H>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1434595303 CA353488726	160	H>Y		No	ClinGen TOPMed gnomAD
CA2488241 rs376414558	161	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA353488684 rs1457131071	162	I>F		No	ClinGen gnomAD
rs1271819617 CA353488679	162	I>T		No	ClinGen TOPMed
CA353488671 rs868033287	163	V>I		No	ClinGen TOPMed
CA76457949 rs868033287	163	V>L		No	ClinGen TOPMed
rs750636724 CA2488240	164	C>S		No	ClinGen ExAC TOPMed gnomAD
CA2488239 rs767789615	166	L>V		No	ClinGen ExAC gnomAD
CA353488563 rs1419214114	168	S>C		No	ClinGen gnomAD
rs368942872 CA2488238	169	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1003788740 CA76457904	169	I>T		No	ClinGen TOPMed
CA2488237 rs368942872	169	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2488235 rs775997106	170	I>M		No	ClinGen ExAC TOPMed gnomAD
CA2488233 rs765544948	171	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1315021375 CA353488424	175	I>M		No	ClinGen TOPMed
CA2488232 rs375804302	175	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs753145321 CA76457881	176	N>S		No	ClinGen Ensembl
TCGA novel	177	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2488231 rs776204391	178	M>I		No	ClinGen ExAC gnomAD
CA353488378 rs1463468633	178	M>L		No	ClinGen gnomAD
CA353488287 rs1227959433	180	I>M		No	ClinGen gnomAD
rs199541209 CA2488214	180	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1340393597 CA353488265	181	S>Y		No	ClinGen gnomAD
CA353488230 rs1294504464	184	N>T		No	ClinGen gnomAD
rs758502226 CA2488213	186	E>D		No	ClinGen ExAC
TCGA novel	187	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765743199 CA2488211	188	G>D		No	ClinGen ExAC gnomAD
rs753132353 CA2488212	188	G>S		No	ClinGen ExAC gnomAD
rs1449676877 CA353488197	189	V>I		No	ClinGen gnomAD
CA2488208 rs765915766	190	L>I		No	ClinGen ExAC gnomAD
rs781744346 CA76457644	191	D>E		No	ClinGen Ensembl
rs1167511036 CA353488176	192	P>S		No	ClinGen gnomAD
CA353488154 rs1423153328	195	I>T		No	ClinGen gnomAD
CA353488157 rs1170910173	195	I>V		No	ClinGen gnomAD
rs771572711 CA2488205	196	V>A		No	ClinGen ExAC TOPMed gnomAD
CA2488203 rs774373146	197	P>S		No	ClinGen ExAC TOPMed gnomAD
rs370324014 CA76457616	199	I>L		No	ClinGen ESP TOPMed
CA353488116 rs1258319437	201	G>A		No	ClinGen TOPMed gnomAD
CA2488202 rs768776474	203	T>A		No	ClinGen ExAC TOPMed
rs1372661821 CA353488097	204	E>D		No	ClinGen gnomAD
rs749094335 CA2488201	205	G>A		No	ClinGen ExAC TOPMed gnomAD
CA76457603 rs749094335	205	G>D		No	ClinGen ExAC TOPMed gnomAD
rs771038758 CA2488199	207	K>N		No	ClinGen ExAC gnomAD
CA2488198 rs547884414	209	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs367709093 COSM1693001 CA2488196	211	R>W	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs779387193 CA2488194	214	L>V		No	ClinGen ExAC gnomAD
CA2488191 rs528228237	216	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs144568523 CA2488190	217	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs750027713 CA2488189	218	T>I		No	ClinGen ExAC gnomAD
rs1299439697 CA353487790	219	A>T		No	ClinGen gnomAD
CA76457544 rs370180950	221	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	222	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150571999 CA2488187	224	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2488185 rs768686688	226	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1004630596 CA353487731	226	E>K		No	ClinGen TOPMed gnomAD
CA76457506 rs1004630596	226	E>Q		No	ClinGen TOPMed gnomAD
CA76457477 rs374172565	227	L>F		No	ClinGen Ensembl
rs1196736402 CA353487716	228	Y>H		No	ClinGen gnomAD
rs1293742339 CA353487691	229	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA76457468 rs952060688	229	P>S		No	ClinGen Ensembl
CA353487674 rs1488328732	230	P>L		No	ClinGen gnomAD
CA2488165 rs763650913	232	V>I		No	ClinGen ExAC
CA353487524 rs1193822203	233	N>D		No	ClinGen TOPMed
CA353487449 rs1196462041	236	M>T		No	ClinGen TOPMed gnomAD
CA76456741 rs906285193	236	M>V		No	ClinGen TOPMed
CA2488164 rs762371783	239	I>V		No	ClinGen ExAC gnomAD
rs1329042728 CA353487361	240	A>V		No	ClinGen gnomAD
rs150359494 CA76456715	242	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2488163 rs150359494	242	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1036325132 CA76456708	245	L>R		No	ClinGen TOPMed
CA2488161 rs759367059	246	P>S		No	ClinGen ExAC gnomAD
rs1046147697 CA76456689	252	Y>F		No	ClinGen TOPMed
COSM3702475 rs772258723 CA2488159	252	Y>H	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1159245058 CA353487000	254	R>S		No	ClinGen gnomAD
rs377621876 CA2488158 CA76456687	255	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA76456688 rs11544137	255	M>V		No	ClinGen Ensembl
rs768658400 CA2488157	260	K>E		No	ClinGen ExAC TOPMed gnomAD
CA2488156 rs768658400	260	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs749341901 CA2488155	263	P>H		No	ClinGen ExAC TOPMed gnomAD
rs1175911744 CA353486821	263	P>T		No	ClinGen gnomAD
rs1269054254 CA353486785	264	F>L		No	ClinGen Ensembl
CA353486781 rs1247802328	265	G>R		No	ClinGen TOPMed gnomAD
CA76456645 rs1037354539	266	E>*		No	ClinGen TOPMed
CA2488121 rs116820810	266	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA353486656 rs1353599762	267	G>R		No	ClinGen gnomAD
CA2488120 rs757635682	268	V>F		No	ClinGen ExAC gnomAD
CA353486644 rs757635682	268	V>I		No	ClinGen ExAC gnomAD
CA353486581 rs1348402051	271	D>G		No	ClinGen TOPMed
rs1412051388 CA353486594	271	D>N		No	ClinGen gnomAD
rs1397668894 CA353486558	272	G>E		No	ClinGen gnomAD
CA353486528 rs1419331218	274	D>A		No	ClinGen gnomAD
rs747433457 CA2488118	278	I>K		No	ClinGen ExAC TOPMed gnomAD
rs747433457 CA76456406	278	I>T		No	ClinGen ExAC TOPMed gnomAD
CA353486441 rs777559572	279	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA2488115 rs752228363	279	Q>H		No	ClinGen ExAC gnomAD
rs777559572 CA2488117	279	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs751663068 CA2488116	279	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1196611729 CA353486414	281	I>T		No	ClinGen TOPMed
CA353486385 rs1207936103	283	Q>E		No	ClinGen TOPMed gnomAD
rs1207936103 CA353486387	283	Q>K		No	ClinGen TOPMed gnomAD
rs1258890146 CA353486356	284	K>N		No	ClinGen TOPMed
rs754545715 CA2488112	286	L>V		No	ClinGen ExAC gnomAD
CA2488110 rs766318611	289	A>S		No	ClinGen ExAC gnomAD
CA76456373 rs768603428	290	S>A		No	ClinGen Ensembl
rs750286287 CA2488108	290	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA353486251 rs1559642143	292	Y>C		No	ClinGen Ensembl
rs763136791 CA2488106	293	N>S		No	ClinGen ExAC gnomAD
CA2488104 rs769723665	294	I>V		No	ClinGen ExAC gnomAD
CA2488102 rs777263009	296	G>C		No	ClinGen ExAC gnomAD
rs771628506 CA2488101	296	G>D		No	ClinGen ExAC gnomAD
CA76456338 rs201471678	298	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2488099 rs778048000	299	Y>C		No	ClinGen ExAC gnomAD
CA2488098 rs772508484	300	R>G		No	ClinGen ExAC gnomAD
CA2488097 rs747714431	302	T>S		No	ClinGen ExAC gnomAD
CA353486120 rs1169315043	303	Q>L		No	ClinGen TOPMed
rs1187804573 CA353484832	304	G>E		No	ClinGen gnomAD
CA2488077 rs778418095	306	V>A		No	ClinGen ExAC gnomAD
TCGA novel	306	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2488076 rs768365846	307	K>Q		No	ClinGen ExAC gnomAD
CA2488075 rs748765354	309	I>V		No	ClinGen ExAC gnomAD
CA353484748 rs1280775521	311	P>L		No	ClinGen gnomAD
CA353484726 rs1304670249	313	V>A		No	ClinGen TOPMed gnomAD
rs1553682376 CA353484715	314	A>P		No	ClinGen Ensembl
rs781196441 CA2488071	315	S>P		No	ClinGen ExAC TOPMed gnomAD
CA353484699 rs1329706375	316	T>A		No	ClinGen TOPMed
CA2488070 rs756947850	317	N>D		No	ClinGen ExAC TOPMed
CA2488068 rs375058747	320	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs780984688 CA2488054	322	A>G		No	ClinGen ExAC gnomAD
rs746291765 CA76449986	322	A>P		No	ClinGen Ensembl
rs757256237 CA2488053	323	V>L		No	ClinGen ExAC gnomAD
CA2488052 rs746754514	324	C>Y		No	ClinGen ExAC gnomAD
CA2488051 rs371912485	325	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	325	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2488050 rs758298206	326	T>A		No	ClinGen ExAC gnomAD
rs766719466 CA2488049	328	V>F		No	ClinGen ExAC gnomAD
CA2488048 rs766719466	328	V>L		No	ClinGen ExAC gnomAD
CA353484474 rs1159889568	331	I>T		No	ClinGen TOPMed
CA76449338 rs368164002	331	I>V		No	ClinGen ESP TOPMed gnomAD
CA2488047 rs756248344	332	A>T		No	ClinGen ExAC gnomAD
CA2488033 rs777857808	335	A>V		No	ClinGen ExAC gnomAD
CA353484344 rs1162862018	336	Y>F		No	ClinGen gnomAD
rs1463025587 CA353484333	337	I>L		No	ClinGen gnomAD
rs1489597552 CA353484285	340	N>H		No	ClinGen TOPMed
CA353484274 rs1575827976	340	N>K		No	ClinGen Ensembl
rs1252794754 CA353484203	345	F>I		No	ClinGen TOPMed
rs758207974 CA2488032	346	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	347	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	352	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA76449200 rs1029837632	352	Y>H		No	ClinGen TOPMed gnomAD
rs149648949 CA353484063	354	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1258151133 CA353484049	355	T>I		No	ClinGen TOPMed gnomAD
rs750447596 CA2488028	356	F>L		No	ClinGen ExAC gnomAD
TCGA novel	357	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781284502 CA2488027	357	E>G		No	ClinGen ExAC TOPMed gnomAD
CA2488025 rs752001283	360	R>G		No	ClinGen ExAC gnomAD
CA353483931 rs1575827620	362	E>D		No	ClinGen Ensembl
rs1575827616 CA353483921	363	N>T		No	ClinGen Ensembl
rs1361775048 CA353483897	365	P>T		No	ClinGen TOPMed
rs1175974478 CA353483883	366	A>G		No	ClinGen gnomAD
CA2487998 rs772890048	369	Q>E		No	ClinGen ExAC gnomAD
CA353483843 rs1220317113	369	Q>L		No	ClinGen TOPMed
CA353483819 rs1373065695	371	P>L		No	ClinGen TOPMed gnomAD
rs1312761138 CA353483772	375	Q>H		No	ClinGen Ensembl
rs140550798 CA2487996	381	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2487995 rs774462987	383	Q>*		No	ClinGen ExAC gnomAD
rs759582398 CA76448677	383	Q>P		No	ClinGen Ensembl
CA76448673 rs759582398	383	Q>R		No	ClinGen Ensembl
CA2487993 rs749053790	390	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1484511736 CA353483602	390	T>S		No	ClinGen gnomAD
CA2487992 rs781467334	393	A>T		No	ClinGen ExAC gnomAD
rs1575827515 CA353483544	393	A>V		No	ClinGen Ensembl
rs1241292053 CA353483540	394	S>P		No	ClinGen TOPMed
TCGA novel	396	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353483459 rs1575827371	396	Q>K		No	ClinGen Ensembl
rs1575827364 CA353483422	397	M>I		No	ClinGen Ensembl
rs1459365147 CA353483388	399	S>T		No	ClinGen TOPMed gnomAD
rs769650208 CA2487973	399	S>Y		No	ClinGen ExAC gnomAD
rs1230942446 CA353483297	403	T>R		No	ClinGen gnomAD
rs747189162 CA2487972	405	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1458156639 CA353483250	406	L>R		No	ClinGen gnomAD
rs1381002138 CA353483216	408	G>R		No	ClinGen TOPMed
rs868630360 CA76448459	411	R>K		No	ClinGen Ensembl
CA76448447 rs369198309	412	T>A		No	ClinGen ESP
CA2487970 rs772080586	413	L>I		No	ClinGen ExAC TOPMed gnomAD
CA2487969 rs541576675	414	Y>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1156908927 CA353483069	414	Y>S		No	ClinGen TOPMed
rs1229077729 CA353483032	416	Q>*		No	ClinGen gnomAD
CA76448270 COSM3696252 rs1030790749	417	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA353482900 rs1342165947	419	T>I		No	ClinGen gnomAD
CA2487947 rs182961972	420	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353482884 rs1394223577	421	I>V		No	ClinGen gnomAD
CA2487946 rs768804177	423	E>D		No	ClinGen ExAC gnomAD
CA353482860 rs1167441414	423	E>K		No	ClinGen TOPMed
rs372032347 CA353482845	424	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs372032347 CA2487945	424	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2487944 rs780617424	424	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA76448224 rs137972832	426	R>K		No	ClinGen ESP TOPMed gnomAD
rs1240463902 CA353482751	431	K>T		No	ClinGen gnomAD
CA353482654 rs1192264822	439	V>A		No	ClinGen Ensembl
CA353482658 rs1559639334	439	V>I		No	ClinGen Ensembl
rs1403474666 CA353482616	445	A>P		No	ClinGen gnomAD
TCGA novel	445	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147779512 CA2487922	445	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2487919 rs199555987	446	V>G		No	ClinGen ExAC gnomAD
CA2487920 rs770492068	446	V>I		No	ClinGen ExAC gnomAD
rs1575826658 CA353482603	447	A>G		No	ClinGen Ensembl
rs1575826652 CA353482598	448	D>G		No	ClinGen Ensembl
CA353482567 rs1575826631	453	Q>P		No	ClinGen Ensembl
TCGA novel	454	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201227095 CA2487917	455	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1014889744 CA76447704	455	V>I		No	ClinGen Ensembl
CA76447652 rs145114621	456	L>P		No	ClinGen ESP TOPMed gnomAD
CA353482543 rs1417259960	457	F>Y		No	ClinGen gnomAD
TCGA novel	458	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353482527 rs1325064894	459	L>H		No	ClinGen TOPMed
CA353482526 rs1168236865	460	H>N		No	ClinGen gnomAD
CA2487914 rs572629585	462	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA353482509 rs572629585	462	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2487913 rs752316340	463	S>F		No	ClinGen ExAC gnomAD

No associated diseases with Q8TBC4

4 regional properties for Q8TBC4

Type	Name	Position	InterPro Accession
domain	THIF-type NAD/FAD binding fold	66 - 365	IPR000594
domain	E2 binding	374 - 462	IPR014929
domain	NEDD8-activating enzyme E1 catalytic subunit, N-terminal domain	71 - 368	IPR030468
active_site	Ubiquitin-activating enzyme E1, Cys active site	235 - 243	IPR033127

Functions

		Description
EC Number	6.2.1.64	Acid--thiol ligases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 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.
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.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
identical protein binding	Binding to an identical protein or proteins.
NEDD8 activating enzyme activity	Catalysis of the initiation of the NEDD8 (RUB1) conjugation cascade.
NEDD8 transferase activity	Catalysis of the transfer of NEDD8 from one protein to another via the reaction X-NEDD8 + Y --> Y-NEDD8 + X, where both X-NEDD8 and Y-NEDD8 are covalent linkages.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.

7 GO annotations of biological process

Name	Definition
endomitotic cell cycle	A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell.
post-translational protein modification	The process of covalently altering one or more amino acids in a protein after the protein has been completely translated and released from the ribosome.
protein modification by small protein conjugation	A protein modification process in which one or more groups of a small protein, such as ubiquitin or a ubiquitin-like protein, are covalently attached to a target protein.
protein modification process	The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).
protein neddylation	Covalent attachment of the ubiquitin-like protein NEDD8 (RUB1) to another protein.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P22314	UBA1	Ubiquitin-like modifier-activating enzyme 1	Homo sapiens (Human)	PR
Q9UBT2	UBA2	SUMO-activating enzyme subunit 2	Homo sapiens (Human)	PR
Q8C878	Uba3	NEDD8-activating enzyme E1 catalytic subunit	Mus musculus (Mouse)	PR
Q99MI7	Uba3	NEDD8-activating enzyme E1 catalytic subunit	Rattus norvegicus (Rat)	PR
Q7ZVX6	uba3	NEDD8-activating enzyme E1 catalytic subunit	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MADGEEPEKK	RRRIEELLAE	KMAVDGGCGD	TGDWEGRWNH	VKKFLERSGP	FTHPDFEPST
70	80	90	100	110	120
ESLQFLLDTC	KVLVIGAGGL	GCELLKNLAL	SGFRQIHVID	MDTIDVSNLN	RQFLFRPKDI
130	140	150	160	170	180
GRPKAEVAAE	FLNDRVPNCN	VVPHFNKIQD	FNDTFYRQFH	IIVCGLDSII	ARRWINGMLI
190	200	210	220	230	240
SLLNYEDGVL	DPSSIVPLID	GGTEGFKGNA	RVILPGMTAC	IECTLELYPP	QVNFPMCTIA
250	260	270	280	290	300
SMPRLPEHCI	EYVRMLQWPK	EQPFGEGVPL	DGDDPEHIQW	IFQKSLERAS	QYNIRGVTYR
310	320	330	340	350	360
LTQGVVKRII	PAVASTNAVI	AAVCATEVFK	IATSAYIPLN	NYLVFNDVDG	LYTYTFEAER
370	380	390	400	410	420
KENCPACSQL	PQNIQFSPSA	KLQEVLDYLT	NSASLQMKSP	AITATLEGKN	RTLYLQSVTS
430	440	450	460
IEERTRPNLS	KTLKELGLVD	GQELAVADVT	TPQTVLFKLH	FTS