AiPD: Autoinhibited Protein Database

Q8NC42

Gene name	RNF149 (DNAPTP2)
Protein name	E3 ubiquitin-protein ligase RNF149
Names	DNA polymerase-transactivated protein 2, RING finger protein 149, RING-type E3 ubiquitin transferase RNF149
Species	Homo sapiens (Human)
KEGG Pathway	hsa:284996
EC number	2.3.2.27: Aminoacyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

293-400 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

293-400 (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 Q8NC42

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NC42-F1	Predicted				AlphaFoldDB

324 variants for Q8NC42

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1483220521 CA347925968	2	A>T		No	ClinGen gnomAD
rs1485181322 CA347925944	3	W>*		No	ClinGen gnomAD
CA347925948 rs1208255941	3	W>L		No	ClinGen gnomAD
rs1220505155 CA347925932	4	R>L		No	ClinGen gnomAD
rs1278680401 CA347925938	4	R>W		No	ClinGen gnomAD
CA52862649 rs899797930	5	R>W		No	ClinGen TOPMed gnomAD
rs374342084 CA1806154	6	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1238966937 CA347925915	6	R>H		No	ClinGen gnomAD
rs763258401 CA347925908	7	E>*		No	ClinGen ExAC gnomAD
rs1413131596 CA347925906	7	E>G		No	ClinGen gnomAD
VAR_035958 rs763258401 COSM32724 CA1806153	7	E>K	breast a breast cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ExAC dbSNP gnomAD
CA347925890 rs752822744	8	A>G		No	ClinGen ExAC TOPMed gnomAD
rs752822744 CA1806152	8	A>V		No	ClinGen ExAC TOPMed gnomAD
rs11123868 CA347925885	9	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1806151 rs11123868 VAR_029455	9	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1322640546 CA347925883	9	S>N		No	ClinGen TOPMed
CA347925887 rs11123868	9	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1806150 rs759965838	10	V>F		No	ClinGen ExAC TOPMed gnomAD
rs771532262 CA1806148	12	A>T		No	ClinGen ExAC gnomAD
rs115426637 CA1806147	13	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1413893940 CA347925832	13	R>L		No	ClinGen gnomAD
rs560710539 CA347925815	15	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560710539 CA1806145	15	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA52862597 rs934481995	17	A>P		No	ClinGen TOPMed gnomAD
CA347925751 rs1252756379	21	L>F		No	ClinGen TOPMed
CA347925742 rs1208635942	21	L>R		No	ClinGen gnomAD
CA347925733 rs905403360	22	A>D		No	ClinGen TOPMed gnomAD
rs769638742 CA1806141	22	A>T		No	ClinGen ExAC TOPMed gnomAD
rs905403360 CA52862586	22	A>V		No	ClinGen TOPMed gnomAD
CA52862574 rs1046699676	27	V>G		No	ClinGen Ensembl
rs1457678803 CA347925656	29	G>E		No	ClinGen gnomAD
CA347925659 rs1317801118	29	G>R		No	ClinGen gnomAD
rs757198750 CA1806138	30	A>V		No	ClinGen ExAC TOPMed gnomAD
CA347925638 rs1374922734	31	R>Q		No	ClinGen TOPMed
CA52862560 rs981286580	31	R>W		No	ClinGen TOPMed gnomAD
CA1806137 rs751404920	32	G>S		No	ClinGen ExAC gnomAD
rs1164053025 CA347925629	33	R>Q		No	ClinGen TOPMed
CA1806134 rs758351575	34	A>P		No	ClinGen ExAC TOPMed gnomAD
rs758351575 CA1806135	34	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1318326608 CA347925625	34	A>V		No	ClinGen TOPMed
CA347925616 rs1188695326	36	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA347925586 rs1382482478	39	S>L		No	ClinGen TOPMed
rs1573276654 CA347925575	41	V>A		No	ClinGen Ensembl
rs1573276667 CA347925577	41	V>L		No	ClinGen Ensembl
rs760017148 CA1806131	45	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1336151810 CA347925533	47	V>A		No	ClinGen TOPMed
CA347925527 rs1296943093	48	D>G		No	ClinGen gnomAD
CA347925530 rs1360180734	48	D>N		No	ClinGen gnomAD
rs1367482690 CA347925520	49	P>Q		No	ClinGen gnomAD
rs1367482690 CA347925519	49	P>R		No	ClinGen gnomAD
rs1350240549 CA347925500	52	N>S		No	ClinGen gnomAD
CA347925495 rs1558800183	53	L>M		No	ClinGen Ensembl
rs763678069 CA1806126	54	T>M		No	ClinGen ExAC gnomAD
rs762361219 CA1806125	56	W>C		No	ClinGen ExAC gnomAD
rs1418291221 CA347925468	57	S>N		No	ClinGen gnomAD
CA1806123 rs751024699	59	S>L		No	ClinGen ExAC gnomAD
rs1485660015 CA347925446	60	E>D		No	ClinGen TOPMed
rs745712285 CA1806122	60	E>Q		No	ClinGen ExAC gnomAD
CA347925428 rs1264132756	63	R>H		No	ClinGen TOPMed
CA347925416 rs1274145048	65	G>R		No	ClinGen gnomAD
CA347925409 rs1344338221	66	D>N		No	ClinGen gnomAD
CA1806119 rs746972485	67	S>T		No	ClinGen ExAC TOPMed gnomAD
CA52862438 rs925603015	68	S>*		No	ClinGen gnomAD
CA347925378 rs1295242824 CA347925379	70	K>N		No	ClinGen gnomAD
CA347925363 rs779326442	73	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1806115 rs779326442	73	A>T		No	ClinGen ExAC TOPMed gnomAD
rs11537549 CA52862394	75	G>S		No	ClinGen gnomAD
CA347925339 rs1232204891	77	V>L		No	ClinGen gnomAD
CA1806113 rs754070985	78	G>A		No	ClinGen ExAC TOPMed gnomAD
CA347925328 rs1172515064	79	V>I		No	ClinGen gnomAD
rs1453991054 CA347925319	80	P>R		No	ClinGen TOPMed
CA1806111 rs371781093	82	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1806110 rs751000826	82	A>V		No	ClinGen ExAC TOPMed gnomAD
rs762566927 CA1806108	83	P>L		No	ClinGen ExAC TOPMed gnomAD
rs764680183 CA1806106	86	D>N		No	ClinGen ExAC TOPMed gnomAD
CA347925287 rs764680183	86	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1806104 rs776200345	87	L>H		No	ClinGen ExAC gnomAD
rs1026183660 CA52862291	88	E>Q		No	ClinGen Ensembl
rs746775066 CA1806102	90	C>Y		No	ClinGen ExAC gnomAD
rs1308477352 CA347925248	92	P>A		No	ClinGen gnomAD
CA347925230 rs1216977816	94	T>M		No	ClinGen TOPMed
CA347925227 rs1262660102	95	R>C		No	ClinGen TOPMed
rs1482415605 CA347925224	95	R>L		No	ClinGen TOPMed
rs1558799844 CA347925208	97	F>L		No	ClinGen Ensembl
CA347925190 rs1360395410	100	E>V		No	ClinGen gnomAD
CA347925183 rs1558799822	101	P>R		No	ClinGen Ensembl
rs1476138929 CA347925185	101	P>T		No	ClinGen TOPMed
CA1806095 rs749531598	102	G>C		No	ClinGen ExAC TOPMed gnomAD
CA1806096 rs749531598	102	G>R		No	ClinGen ExAC TOPMed gnomAD
rs993978881 CA52862250	103	G>S		No	ClinGen TOPMed gnomAD
rs756572047 CA347925171	104	R>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	105	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1483584783 CA347925156	106	A>V		No	ClinGen TOPMed gnomAD
rs768121586 CA1806091	107	A>S		No	ClinGen ExAC TOPMed gnomAD
CA347925146 rs1285498609	108	P>L		No	ClinGen gnomAD
rs555902359 CA1806090	108	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA1806087 rs375581084	110	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs200715973 CA1806088	110	V>F		No	ClinGen 1000Genomes ExAC gnomAD
rs200715973 CA347925135	110	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1396265420 CA347925129	111	A>D		No	ClinGen gnomAD
CA347925132 rs1311490049	111	A>T		No	ClinGen gnomAD
rs1396265420 CA347925127	111	A>V		No	ClinGen gnomAD
CA1806085 rs765916068	113	V>M		No	ClinGen ExAC gnomAD
rs865956530 CA52862147	115	R>S		No	ClinGen Ensembl
TCGA novel	116	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347925099 rs1445019683	117	G>S		No	ClinGen TOPMed gnomAD
rs771856832 CA1806082	119	T>N		No	ClinGen ExAC TOPMed gnomAD
rs761842730 CA1806081	120	F>L		No	ClinGen ExAC gnomAD
rs1367098487 CA347925069	121	K>R		No	ClinGen gnomAD
CA347925070 rs1367098487	121	K>T		No	ClinGen gnomAD
CA52862107 rs1052506381	122	D>E		No	ClinGen TOPMed gnomAD
rs1187087399 CA347925065	122	D>N		No	ClinGen gnomAD
rs749376678 CA347925023	128	A>G		No	ClinGen ExAC TOPMed gnomAD
rs749376678 CA1806078	128	A>V		No	ClinGen ExAC TOPMed gnomAD
rs905206894 CA52862027	129	R>Q		No	ClinGen TOPMed gnomAD
rs780366080 CA1806077	129	R>W		No	ClinGen ExAC gnomAD
rs1210523547 CA347924996	133	S>A		No	ClinGen gnomAD
rs1486654642 CA347924993	133	S>L		No	ClinGen TOPMed
rs1480943245 CA347924972	137	L>F		No	ClinGen TOPMed
CA347924974 rs1480943245	137	L>I		No	ClinGen TOPMed
rs1245063706 CA347924964	138	Y>C		No	ClinGen gnomAD
CA347924960 rs1422872942	139	N>H		No	ClinGen TOPMed
rs143827530 CA1806075	139	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA52862020 rs866615223	141	E>D		No	ClinGen gnomAD
CA347924945 rs1292794850	141	E>K		No	ClinGen gnomAD
TCGA novel	142	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347924935 rs781441802	142	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1806074 rs781441802	142	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1806072 rs752075640	143	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs757551305 CA1806073	143	Y>C		No	ClinGen ExAC gnomAD
CA347924932 rs1321740631	143	Y>H		No	ClinGen TOPMed gnomAD
rs757551305 CA347924930	143	Y>S		No	ClinGen ExAC gnomAD
CA347924927 rs1327636381	144	G>R		No	ClinGen TOPMed
rs1443617117 CA347924921	145	N>H		No	ClinGen TOPMed
CA1806068 rs765863528	146	I>M		No	ClinGen ExAC gnomAD
rs1166979281 CA347924903	147	T>I		No	ClinGen gnomAD
CA347924896 rs1448873793	148	L>F		No	ClinGen gnomAD
rs1248740588 CA347924892	149	P>S		No	ClinGen gnomAD
rs1407002617 CA347924886	150	M>L		No	ClinGen TOPMed gnomAD
rs1407002617 CA347924887	150	M>V		No	ClinGen TOPMed gnomAD
CA347924865 rs1467137523	153	A>T		No	ClinGen gnomAD
CA52852796 rs150097352	154	G>E		No	ClinGen ESP TOPMed gnomAD
CA52852791 rs150097352	154	G>V		No	ClinGen ESP TOPMed gnomAD
CA1806048 rs371198782	155	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs767271955 CA1806047	158	I>L		No	ClinGen ExAC gnomAD
rs147601488 CA1806046	158	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347923448 rs1333180039	158	I>R		No	ClinGen TOPMed gnomAD
CA347923450 rs1333180039	158	I>T		No	ClinGen TOPMed gnomAD
rs767271955 CA347923457	158	I>V		No	ClinGen ExAC gnomAD
rs751380866 CA1806045	159	V>L		No	ClinGen ExAC TOPMed gnomAD
CA52852738 rs751380866	159	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1371455975 CA347923379	165	Y>C		No	ClinGen gnomAD
CA1806043 rs762833522	168	G>V		No	ClinGen ExAC gnomAD
CA52852707 rs867903768	169	R>I		No	ClinGen Ensembl
TCGA novel	175	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347923202 rs957212185 CA52852699	175	V>L		No	ClinGen TOPMed gnomAD
rs374625772 CA1806041	176	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1409448364 CA347923151	178	G>E		No	ClinGen TOPMed gnomAD
CA1806039 rs776877800	182	T>A		No	ClinGen ExAC gnomAD
rs771117976 CA1806038	182	T>M		No	ClinGen ExAC TOPMed gnomAD
CA1806036 rs184618462	183	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1253222050 CA347923071	183	M>V		No	ClinGen TOPMed
CA347923038 rs1374674081	184	T>I		No	ClinGen TOPMed gnomAD
CA347923019 rs1377369684	185	I>M		No	ClinGen TOPMed
rs1315026049 CA347923024	185	I>T		No	ClinGen gnomAD
rs1201528746 CA347923031	185	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1466753005 CA347923009	186	G>E		No	ClinGen TOPMed
CA1806033 rs779459091	187	V>F		No	ClinGen ExAC TOPMed gnomAD
CA1806034 rs779459091	187	V>I		No	ClinGen ExAC TOPMed gnomAD
CA347922984 rs1429229971	188	G>A		No	ClinGen TOPMed
rs755643361 CA1806032	189	T>S		No	ClinGen ExAC TOPMed gnomAD
rs781043436 CA1806030	190	R>Q		No	ClinGen ExAC gnomAD
CA1806031 rs745355722	190	R>W		No	ClinGen ExAC gnomAD
rs147840481 CA1806029	191	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1446163713 CA347922951	191	H>R		No	ClinGen gnomAD
rs148697491 CA1806027	193	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA347922878 rs1282402216	195	F>Y		No	ClinGen TOPMed
rs1338236899 CA347922851	197	S>G		No	ClinGen gnomAD
rs752636583 CA1806025	198	G>S		No	ClinGen ExAC TOPMed gnomAD
rs765218224 CA1806024	200	S>F		No	ClinGen ExAC
rs759582246 CA1806023	201	V>M		No	ClinGen ExAC gnomAD
rs1413917741 CA347922771	202	V>M		No	ClinGen gnomAD
CA52852548 rs918044187	205	A>T		No	ClinGen Ensembl
rs76603135 CA1806020	206	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347922696 rs1189080331	208	F>L		No	ClinGen gnomAD
CA347922678 rs1205294976	209	I>V		No	ClinGen TOPMed
CA347922636 rs1330175934	211	M>I		No	ClinGen gnomAD
CA347922641 rs1484332352	211	M>T		No	ClinGen TOPMed
rs372437537 CA1806018	211	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1286862119 CA347922613	212	M>I		No	ClinGen gnomAD
rs1267272587 CA347922618	212	M>T		No	ClinGen TOPMed
rs1220821274 CA347922627	212	M>V		No	ClinGen TOPMed
rs574716905 CA1806017	215	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1285023404 CA347922499	218	W>C		No	ClinGen gnomAD
CA1806015 rs769186611	223	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1449036252 CA347922422	223	Y>N		No	ClinGen TOPMed
rs150885708 CA1806014	224	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1435800123 CA347922372 COSM1223910	226	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs143872522 CA1806013	226	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1806012 rs770502409	227	F>L		No	ClinGen ExAC gnomAD
rs998403258 CA52852456	230	T>A		No	ClinGen TOPMed
CA347922295 rs1164668407	230	T>S		No	ClinGen gnomAD
rs758196292 CA1806009	233	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1806008 rs752508131	233	Q>P		No	ClinGen ExAC gnomAD
CA1806007 rs778522128	234	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1806006 rs754973948	237	Q>H		No	ClinGen ExAC gnomAD
rs779959151 CA1805984	238	S>R		No	ClinGen ExAC gnomAD
rs137972787 CA52851917	239	H>R		No	ClinGen ESP TOPMed
CA347922083 rs1368028316 CA347922084	242	E>D		No	ClinGen TOPMed gnomAD
rs185034388 CA1805982	242	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA52851913 rs185034388	242	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1805981 rs566804274	242	E>V		No	ClinGen 1000Genomes ExAC gnomAD
CA347922075 rs1471353054	244	K>E		No	ClinGen TOPMed
rs141301816 CA1805980	244	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1805979 rs751669298	245	K>E		No	ClinGen ExAC TOPMed gnomAD
CA1805978 rs529934469	247	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA52851879 rs560942196	248	G>D		No	ClinGen 1000Genomes
CA347922035 rs1314770232	250	L>F		No	ClinGen TOPMed
rs1431028537 CA347922022	252	L>P		No	ClinGen gnomAD
CA347922016 rs1174555562	253	H>R		No	ClinGen gnomAD
CA1805974 rs760313147	257	H>R		No	ClinGen ExAC gnomAD
rs771416783 CA1805972	259	E>A		No	ClinGen ExAC gnomAD
CA1805973 rs772808658	259	E>K		No	ClinGen ExAC TOPMed gnomAD
CA347921967 rs138575347	260	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1273585098 CA347921367	261	G>E		No	ClinGen TOPMed
rs1159551469 CA347921357	263	D>N		No	ClinGen gnomAD
rs780982740 CA1805941	266	A>V		No	ClinGen ExAC gnomAD
rs747443122 CA1805940	269	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1219043161 CA347921302	270	A>V		No	ClinGen TOPMed
CA347921294 rs1244859730	272	C>R		No	ClinGen gnomAD
rs1445251885 CA347921285	273	I>F		No	ClinGen gnomAD
CA347921257 rs1573235476	276	F>L		No	ClinGen Ensembl
CA1805938 rs778192023	277	K>E		No	ClinGen ExAC gnomAD
rs1186586606 CA347921254 COSM1663935	277	K>T	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA347921238 rs1267905751	279	K>M		No	ClinGen TOPMed
rs758718485 CA1805937	281	I>V		No	ClinGen ExAC gnomAD
TCGA novel	282	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1805936 rs371323487	282	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs765709011 CA1805935	284	I>S		No	ClinGen ExAC gnomAD
CA1805933 rs754431670	286	P>Q		No	ClinGen ExAC gnomAD
rs376708004 CA1805934	286	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA347921186 rs1245085287	287	C>W		No	ClinGen gnomAD
rs1573235357 CA347921184	288	K>E		No	ClinGen Ensembl
rs1360964467 CA347921181	288	K>R		No	ClinGen TOPMed gnomAD
rs754127520 CA1805916	290	I>T		No	ClinGen ExAC gnomAD
CA347920821 rs1301062175	292	H>L		No	ClinGen TOPMed gnomAD
CA347920825 rs1301062175	292	H>R		No	ClinGen TOPMed gnomAD
CA347920798 rs1367345812	294	I>L		No	ClinGen gnomAD
TCGA novel	295	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201600274 CA52848438	296	I>N		No	ClinGen Ensembl
rs1461508883 CA347920755	299	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1805914 COSM1398447 rs372551230	304	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs750865908 CA347920720	304	R>L		No	ClinGen ExAC TOPMed gnomAD
rs750865908 CA1805913	304	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762440660 CA1805911	306	C>*		No	ClinGen ExAC gnomAD
CA347920712 rs1471032041	306	C>R		No	ClinGen Ensembl
CA1805910 rs200499158	308	M>V		No	ClinGen ExAC gnomAD
CA1805909 rs764838490	311	L>H		No	ClinGen ExAC
rs759426109 CA1805908	314	I>V		No	ClinGen ExAC gnomAD
rs1478271964 CA347920561	315	K>N		No	ClinGen gnomAD
rs776315156 CA1805907	315	K>R		No	ClinGen ExAC gnomAD
CA1805906 rs770722293	316	A>D		No	ClinGen ExAC gnomAD
TCGA novel	318	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760540896 CA1805905	320	W>C		No	ClinGen ExAC TOPMed gnomAD
CA347920482 rs1209177940	320	W>R		No	ClinGen TOPMed
CA347919933 rs1277804340	322	E>D		No	ClinGen TOPMed
CA1805888 rs753470978	322	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA347919931 rs1221432106	323	P>A		No	ClinGen gnomAD
rs766141579 CA1805887	324	G>A		No	ClinGen ExAC gnomAD
CA1805886 rs760538356	325	D>E		No	ClinGen ExAC gnomAD
CA347919920 rs1211973441	325	D>N		No	ClinGen TOPMed
CA1805884 rs767539886	326	V>A		No	ClinGen ExAC gnomAD
rs140877203 CA1805885	326	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1805882 rs774602168	329	M>I		No	ClinGen ExAC gnomAD
rs111907960 CA1805883	329	M>T		No	ClinGen ExAC TOPMed gnomAD
CA347919882 rs1178715995	330	P>L		No	ClinGen TOPMed
CA347919856 rs1445826378	334	S>Y		No	ClinGen gnomAD
rs375490470 CA1805879	339	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1805880 rs749488097	339	D>Y		No	ClinGen ExAC gnomAD
rs1171388508 CA347919755	342	A>V		No	ClinGen TOPMed
rs1319697861 CA347919749	343	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
VAR_029456 rs17856945 CA52846309	344	L>F		No	ClinGen UniProt Ensembl dbSNP
rs1402080808 CA347919723	344	L>W		No	ClinGen TOPMed
CA347919705 COSM172269 rs1573224247	345	S>N	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1409652129 CA347919596	350	D>G		No	ClinGen gnomAD
rs1161101783 CA347919584	351	D>N		No	ClinGen gnomAD
CA1805877 rs534088925	353	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA347919510 rs1558778971	355	D>N		No	ClinGen Ensembl
rs13151 CA347919475 CA1805876 VAR_029457	356	D>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA347919454 rs1463084997	357	S>R		No	ClinGen TOPMed gnomAD
CA1805875 rs372353621	358	S>I		No	ClinGen ESP ExAC gnomAD
CA1805874 rs747477500	359	P>A		No	ClinGen ExAC gnomAD
CA347919407 rs1226875897	360	P>L		No	ClinGen gnomAD
CA347919414 rs1286532538	360	P>S		No	ClinGen gnomAD
rs1220748530 CA347919381	362	A>V		No	ClinGen TOPMed
CA1805873 rs778293421	363	S>A		No	ClinGen ExAC gnomAD
rs778293421 CA347919370	363	S>P		No	ClinGen ExAC gnomAD
CA1805872 rs754495154	364	P>L		No	ClinGen ExAC gnomAD
CA52846283 rs1026695277	364	P>S		No	ClinGen TOPMed gnomAD
CA347919354 rs1457063315	365	A>P		No	ClinGen TOPMed
CA1805870 rs537008842	369	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1805868 rs750264668	370	Q>H		No	ClinGen ExAC gnomAD
CA1805869 rs756018332	370	Q>R		No	ClinGen ExAC gnomAD
CA347919129 rs1321162543	378	D>V		No	ClinGen gnomAD
rs1404469224 CA347919123	379	A>E		No	ClinGen gnomAD
CA52846240 rs1012679259	380	G>E		No	ClinGen Ensembl
rs767380322 CA1805867	380	G>R		No	ClinGen ExAC gnomAD
rs764138954 CA1805865	383	T>K		No	ClinGen ExAC TOPMed gnomAD
rs764138954 CA1805864	383	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1057220757 CA52846217	384	A>T		No	ClinGen TOPMed
CA347919088 rs1478604791	385	L>S		No	ClinGen TOPMed
CA347918397 rs1276450826	388	A>V		No	ClinGen gnomAD
CA347918396 rs1189098581	389	G>S		No	ClinGen TOPMed
CA347918388 rs1374648030	390	R>K		No	ClinGen TOPMed
rs377446243 CA1805838	392	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs139936289 CA1805836	394	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs748563357 CA1805837	394	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs745576479 CA1805834	395	H>R		No	ClinGen ExAC gnomAD
CA347918348 rs1462591519	396	G>A		No	ClinGen TOPMed
CA1805832 rs757159388	397	G>R		No	ClinGen ExAC gnomAD
CA1805831 rs751347331	399	I>V		No	ClinGen ExAC gnomAD
CA1805830 rs777387276	400	S>F		No	ClinGen ExAC gnomAD
CA347918325 rs777387276	400	S>Y		No	ClinGen ExAC gnomAD
rs1573216392 CA347918324	401	S>Q		No	ClinGen Ensembl

No associated diseases with Q8NC42

No regional properties for Q8NC42

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8NC42

Functions

		Description
EC Number	2.3.2.27	Aminoacyltransferases
Subcellular Localization	Membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

2 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.
ubiquitin protein ligase activity	Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.

4 GO annotations of biological process

Name	Definition
cellular response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
negative regulation of MAPK cascade	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the MAPKKK cascade.
regulation of protein stability	Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation.
ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3U2C5	Rnf149	E3 ubiquitin-protein ligase RNF149	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAWRRREASV	GARGVLALAL	LALALCVPGA	RGRALEWFSA	VVNIEYVDPQ	TNLTVWSVSE
70	80	90	100	110	120
SGRFGDSSPK	EGAHGLVGVP	WAPGGDLEGC	APDTRFFVPE	PGGRGAAPWV	ALVARGGCTF
130	140	150	160	170	180
KDKVLVAARR	NASAVVLYNE	ERYGNITLPM	SHAGTGNIVV	IMISYPKGRE	ILELVQKGIP
190	200	210	220	230	240
VTMTIGVGTR	HVQEFISGQS	VVFVAIAFIT	MMIISLAWLI	FYYIQRFLYT	GSQIGSQSHR
250	260	270	280	290	300
KETKKVIGQL	LLHTVKHGEK	GIDVDAENCA	VCIENFKVKD	IIRILPCKHI	FHRICIDPWL
310	320	330	340	350	360
LDHRTCPMCK	LDVIKALGYW	GEPGDVQEMP	APESPPGRDP	AANLSLALPD	DDGSDDSSPP
370	380	390
SASPAESEPQ	CDPSFKGDAG	ENTALLEAGR	SDSRHGGPIS