AiPD: Autoinhibited Protein Database

Q8NBA8

Gene name	DTWD2
Protein name	tRNA-uridine aminocarboxypropyltransferase 2
Names	DTW domain-containing protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:285605
EC number	2.5.1.25: Transferring alkyl or aryl groups, other than methyl groups
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-56 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-56 (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 Q8NBA8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NBA8-F1	Predicted				AlphaFoldDB

373 variants for Q8NBA8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs901402434 CA126328992	2	E>Q		No	ClinGen TOPMed
CA360910303 rs1580460745	3	S>A		No	ClinGen Ensembl
CA360910301 rs1379808160	3	S>L		No	ClinGen TOPMed gnomAD
rs1194567206 CA360910290	5	K>E		No	ClinGen gnomAD
CA3378934 rs764058865	5	K>R		No	ClinGen ExAC gnomAD
CA360910288 rs764058865	5	K>T		No	ClinGen ExAC gnomAD
CA3378933 rs190196130	7	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA126328990 rs1037464068	7	A>V		No	ClinGen TOPMed gnomAD
CA3378932 rs774995062	8	R>*		No	ClinGen ExAC gnomAD
rs769369908 CA360910270	8	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3378931 rs769369908	8	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1561484615 CA360910266	9	T>K		No	ClinGen Ensembl
CA360910267 rs1344829532	9	T>S		No	ClinGen gnomAD
CA3378930 rs759144326	10	L>F		No	ClinGen ExAC TOPMed gnomAD
rs777008007 CA3378929	10	L>H		No	ClinGen ExAC TOPMed gnomAD
CA126328988 rs777008007	10	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1166961095 CA360910258	11	Q>*		No	ClinGen gnomAD
CA3378928 rs771179924	11	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA3378925 rs375581156	12	E>G		No	ClinGen ESP ExAC gnomAD
CA3378926 rs773855671	12	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3378923 rs372339490	15	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA360910231 rs1473466646	15	A>V		No	ClinGen TOPMed
CA360910230 rs1175211762	16	R>G		No	ClinGen TOPMed gnomAD
rs368659961 CA3378921	16	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368659961 CA3378922	16	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA360910229 rs1175211762	16	R>W		No	ClinGen TOPMed gnomAD
CA3378920 rs780370249	17	P>H		No	ClinGen ExAC gnomAD
rs780370249 CA360910224	17	P>R		No	ClinGen ExAC gnomAD
rs1172541652 CA360910218	18	S>C		No	ClinGen TOPMed
rs1243913584 CA360910210	20	A>T		No	ClinGen TOPMed gnomAD
rs1208708041 CA360910205	20	A>V		No	ClinGen gnomAD
rs142762716 CA3378916	22	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs764005770 CA3378917	22	S>R		No	ClinGen ExAC gnomAD
rs752163453 CA3378915	23	S>F		No	ClinGen ExAC gnomAD
CA360910181 rs764677633	24	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1273523793 CA360910183	24	Q>P		No	ClinGen gnomAD
rs776118647 CA360910176	25	T>K		No	ClinGen ExAC TOPMed gnomAD
rs776118647 CA3378912	25	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3378913 rs759137379	25	T>S		No	ClinGen ExAC gnomAD
rs766125675 CA126328987	26	P>L		No	ClinGen ExAC gnomAD
CA3378911 rs766125675	26	P>R		No	ClinGen ExAC gnomAD
CA360910173 rs1447206422	26	P>S		No	ClinGen gnomAD
rs773721117 CA3378909	28	D>A		No	ClinGen ExAC gnomAD
CA3378908 rs200675075	28	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761111284 CA3378910	28	D>N		No	ClinGen ExAC gnomAD
rs1170089760 CA360910154	29	K>R		No	ClinGen gnomAD
CA360910140 rs1580460572	31	R>Q		No	ClinGen Ensembl
CA3378906 rs187201738	32	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1180117563 CA360910134	32	R>P		No	ClinGen TOPMed gnomAD
rs1180117563 CA360910135	32	R>Q		No	ClinGen TOPMed gnomAD
rs187201738 CA360910137	32	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3378903 rs201681130	33	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA126328986 rs1017906276	33	E>G		No	ClinGen gnomAD
CA360910133 rs1201562099	33	E>K		No	ClinGen TOPMed
rs992724426 CA126328985	35	G>V		No	ClinGen TOPMed gnomAD
rs985887617 CA126328983	36	A>V		No	ClinGen TOPMed
rs756416572 CA3378902	38	P>L		No	ClinGen ExAC
rs746739833 CA3378901	39	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1195315388 CA360910090	40	A>V		No	ClinGen TOPMed
CA360910084 rs1204797215	41	A>V		No	ClinGen gnomAD
rs1421254619 CA360910081	42	A>S		No	ClinGen TOPMed
CA3378900 rs777576605	42	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3378899 rs758285067	44	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1404221861 CA360910073	44	G>S		No	ClinGen TOPMed
rs1017249596 CA126328979	45	A>S		No	ClinGen gnomAD
rs1017249596 CA360910068	45	A>T		No	ClinGen gnomAD
CA126328978 rs752611041	46	E>*		No	ClinGen ExAC TOPMed gnomAD
CA3378898 rs752611041	46	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1361181775 CA360910057	47	A>T		No	ClinGen TOPMed
CA360910037 rs1296538210	49	D>E		No	ClinGen TOPMed
CA126328977 rs369717811	49	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA126328976 rs559537281	50	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3378894 rs559537281	50	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765263197 CA3378895	50	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3378893 rs753448771	51	S>G		No	ClinGen ExAC gnomAD
CA360910029 rs1418663108	51	S>N		No	ClinGen gnomAD
rs1167809584 CA360910025	51	S>R		No	ClinGen gnomAD
rs901451985 CA360910021	52	A>E		No	ClinGen TOPMed gnomAD
CA360910024 rs1471863851	52	A>T		No	ClinGen gnomAD
rs901451985 CA126328975	52	A>V		No	ClinGen TOPMed gnomAD
rs1234133893 CA360910014	53	D>E		No	ClinGen TOPMed
rs367835549 CA3378892	53	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA126328974 rs367835549	53	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA126328973 rs1030336689	54	G>E		No	ClinGen gnomAD
rs1030336689 CA126328972	54	G>V		No	ClinGen gnomAD
CA360910006 rs760403508	55	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3378891 rs760403508	55	L>R		No	ClinGen ExAC TOPMed gnomAD
CA360909999 rs1468585261	56	W>*		No	ClinGen gnomAD
TCGA novel	56	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA126328971 rs897335223	57	E>K		No	ClinGen TOPMed gnomAD
rs762314918 CA3378889	58	L>V		No	ClinGen ExAC gnomAD
rs1225305279 CA360909980	59	P>L		No	ClinGen TOPMed gnomAD
CA360909981 rs1225305279	59	P>Q		No	ClinGen TOPMed gnomAD
CA126328970 rs1037176183	60	V>G		No	ClinGen TOPMed
rs1327931060 CA360909972	61	E>A		No	ClinGen gnomAD
rs1327931060 CA360909971	61	E>G		No	ClinGen gnomAD
rs888461991 CA126328969	61	E>Q		No	ClinGen TOPMed gnomAD
rs762927710 CA3378885	62	P>L		No	ClinGen ExAC gnomAD
rs1477007143 CA360909960	63	A>S		No	ClinGen TOPMed
CA360909949 rs1423499658	64	E>D		No	ClinGen gnomAD
CA360909954 rs1421289483	64	E>K		No	ClinGen gnomAD
rs1421289483 CA360909956	64	E>Q		No	ClinGen gnomAD
rs769867185 CA3378883	65	R>Q		No	ClinGen ExAC gnomAD
rs775652167 CA360909947	65	R>W		No	ClinGen ExAC TOPMed gnomAD
rs771825191 CA3378881	66	R>S		No	ClinGen ExAC TOPMed gnomAD
rs771825191 CA3378880	66	R>S		No	ClinGen ExAC TOPMed gnomAD
CA3378879 rs778926825	67	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3378878 rs778926825	67	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1217863235 CA360909931	68	E>A		No	ClinGen gnomAD
rs577125909 CA126328967	68	E>D		No	ClinGen 1000Genomes TOPMed
rs546051310 CA3378877	68	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360909933 rs1217863235	68	E>V		No	ClinGen gnomAD
CA360909925 rs753216869	69	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1440866380 CA360909927	69	C>G		No	ClinGen TOPMed
rs1440866380 CA360909929	69	C>S		No	ClinGen TOPMed
CA3378876 rs753216869	69	C>S		No	ClinGen ExAC TOPMed gnomAD
rs993171664 CA126328963	70	T>I		No	ClinGen TOPMed gnomAD
CA126328964 rs917218048	70	T>P		No	ClinGen TOPMed gnomAD
rs993171664 CA360909919	70	T>S		No	ClinGen TOPMed gnomAD
rs556935759 CA126328961	71	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs755776548 CA3378874	72	C>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	73	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750076326 CA3378873	73	S>C		No	ClinGen ExAC gnomAD
CA126328959 rs1041639734	73	S>T		No	ClinGen TOPMed
rs750528656 CA3378798	74	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1316914300 CA360908971	74	R>W		No	ClinGen TOPMed gnomAD
rs1453018844 CA360908963	75	P>L		No	ClinGen gnomAD
TCGA novel	76	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767722399 CA3378796	82	P>R		No	ClinGen ExAC gnomAD
CA126322906 rs945840772	84	L>F		No	ClinGen gnomAD
CA3378794 rs369066996	86	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3378793 rs369066996	86	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3378790 rs770830179	87	H>Q		No	ClinGen ExAC gnomAD
rs1407494966 CA360908889	87	H>Y		No	ClinGen TOPMed
rs772599283 CA3378789	88	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3378788 rs772599283	88	P>R		No	ClinGen ExAC TOPMed gnomAD
CA3378786 rs143594682	90	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143594682 CA3378787	90	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1443183869 CA360908871	90	H>Y		No	ClinGen gnomAD
rs902843244 CA360908867	91	I>L		No	ClinGen TOPMed gnomAD
rs902843244 CA126322905	91	I>V		No	ClinGen TOPMed gnomAD
rs372310235 CA3378785	92	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs761891421 CA360908854	93	T>I		No	ClinGen gnomAD
rs768981381 CA3378784	93	T>P		No	ClinGen ExAC gnomAD
CA126322904 rs761891421	93	T>S		No	ClinGen gnomAD
CA3378782 rs542570450	94	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs776810173 CA126322903	95	L>W		No	ClinGen TOPMed
CA360908818 rs1440460584	98	I>M		No	ClinGen TOPMed
CA3378781 rs756594703	100	H>Y		No	ClinGen ExAC gnomAD
rs1470920258 CA360908795	102	A>P		No	ClinGen gnomAD
rs1250630548 CA360908787	103	E>A		No	ClinGen gnomAD
rs148893773 CA3378780	103	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781742349 CA3378757	105	N>D		No	ClinGen ExAC gnomAD
rs757408151 CA3378756	105	N>S		No	ClinGen ExAC gnomAD
rs1381051531 CA360908756	106	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1554068452 CA3378751	107	V>G		No	ClinGen Ensembl
rs778081745 CA3378753	107	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	107	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778081745 CA360908748	107	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1402283338 CA360908741	108	L>S		No	ClinGen gnomAD
CA360908744 rs1423275969	108	L>V		No	ClinGen TOPMed
CA126322222 rs900940016	109	R>C		No	ClinGen gnomAD
rs900940016 CA360908737	109	R>G		No	ClinGen gnomAD
COSM1059934 CA3378749 rs375892597	109	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA360908738 rs900940016	109	R>S		No	ClinGen gnomAD
rs1167645377 CA360908729	110	T>I		No	ClinGen gnomAD
rs1336264979 CA360908718	112	P>R		No	ClinGen gnomAD
CA360908722 rs1262392477	112	P>T		No	ClinGen gnomAD
rs1195748112 CA360908712	113	L>R		No	ClinGen gnomAD
rs750300472 CA3378746	114	L>V		No	ClinGen ExAC TOPMed gnomAD
CA126322220 rs201395868	116	A>V		No	ClinGen 1000Genomes TOPMed
rs928421552 CA360908689	117	C>W		No	ClinGen TOPMed gnomAD
CA360908693 rs1486100245	117	C>Y		No	ClinGen TOPMed gnomAD
CA3378744 rs761303443	118	L>R		No	ClinGen ExAC TOPMed gnomAD
CA126322217 rs867915904	119	P>L		No	ClinGen Ensembl
rs1296998985 COSM1696071 CA360908683	119	P>S	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3378742 rs553547027	120	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs199515560 CA126322216	121	D>E		No	ClinGen 1000Genomes
CA360908667 rs1415049984	121	D>G		No	ClinGen gnomAD
CA360908661 rs1580422875	122	K>R		No	ClinGen Ensembl
rs762625859 CA3378740	123	C>G		No	ClinGen ExAC gnomAD
CA360908654 rs1296062378	123	C>Y		No	ClinGen gnomAD
CA126322215 rs1042950626	124	K>R		No	ClinGen Ensembl
rs1461105027 CA360908642	125	V>M		No	ClinGen gnomAD
CA126322214 rs946008183	126	K>N		No	ClinGen Ensembl
rs1172752458 CA360908620	128	G>A		No	ClinGen gnomAD
CA360908622 rs200486968	128	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA126322212 rs200486968	128	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3378739 rs200486968	128	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770032727 CA3378738	129	R>C		No	ClinGen ExAC gnomAD
CA3378737 rs142174386	129	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3378736 rs776989080	130	R>C		No	ClinGen ExAC TOPMed gnomAD
rs771577328 CA3378735	130	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA360908612 rs771577328	130	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs537712571 CA360908599	132	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3378732 rs537712571	132	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3378733 rs551636114	132	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA360908592 rs1258727024	133	E>G		No	ClinGen gnomAD
rs111897317 CA3378729	134	E>D		No	ClinGen ExAC gnomAD
rs748293505 CA3378731	134	E>K		No	ClinGen ExAC TOPMed gnomAD
rs958314704 CA126322211	135	R>*		No	ClinGen TOPMed gnomAD
rs980218678 CA126322210	135	R>K		No	ClinGen Ensembl
CA126320906 rs1009381570	137	P>T		No	ClinGen TOPMed
CA3378706 rs777729545	140	S>*		No	ClinGen ExAC gnomAD
CA3378707 rs751477435	140	S>A		No	ClinGen ExAC gnomAD
rs757832525 CA3378705	141	T>A		No	ClinGen ExAC gnomAD
rs757832525 CA360908534	141	T>P		No	ClinGen ExAC gnomAD
rs757832525 CA360908533	141	T>S		No	ClinGen ExAC gnomAD
CA360908514 rs759367172	144	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3378703 rs759367172	144	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3378704 rs752265020	144	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1003935741 CA360908506	145	K>N		No	ClinGen TOPMed gnomAD
CA3378702 rs759262703	146	S>A		No	ClinGen ExAC gnomAD
CA360908497 rs1453796697	147	G>D		No	ClinGen gnomAD
CA3378701 rs754203711	147	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1260114840 CA360908489	148	T>I		No	ClinGen gnomAD
rs1346896167 CA360908494	148	T>P		No	ClinGen TOPMed gnomAD
CA3378700 rs766826390	150	I>M		No	ClinGen ExAC gnomAD
CA360908477 rs1283328973	150	I>T		No	ClinGen TOPMed gnomAD
CA3378699 rs761157886	151	L>S		No	ClinGen ExAC gnomAD
rs1287795698 CA360908464	152	Y>*		No	ClinGen gnomAD
rs768419718 CA126320902	152	Y>H		No	ClinGen Ensembl
CA3378697 rs370707862	154	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	154	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145178816 CA3378696	155	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	155	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	158	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761746023 CA3378695	158	A>T		No	ClinGen ExAC gnomAD
rs1324562806 CA360908404	162	E>K		No	ClinGen gnomAD
rs373638510 CA3378694	164	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs768722683 CA3378693	165	L>*		No	ClinGen ExAC gnomAD
rs749549199 CA3378692	166	D>G		No	ClinGen ExAC gnomAD
CA360908358 rs1433026273	168	P>L		No	ClinGen gnomAD
rs1160696646 CA360908361	168	P>S		No	ClinGen gnomAD
rs932363827 CA126320901	173	T>A		No	ClinGen TOPMed gnomAD
CA126320900 rs899572396	173	T>I		No	ClinGen TOPMed gnomAD
CA3378687 rs200186053	174	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1404788585 CA360908319	175	I>F		No	ClinGen TOPMed
rs141109916 CA3378686	177	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1336876597 CA360908297	178	D>G		No	ClinGen gnomAD
TCGA novel	181	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1381507450 CA360908281	181	W>G		No	ClinGen TOPMed
rs1219104320 CA360908271	182	S>G		No	ClinGen gnomAD
CA126320899 rs369767455	182	S>N		No	ClinGen ESP gnomAD
rs1228710741 CA360908264	183	Q>*		No	ClinGen TOPMed
CA3378682 rs758358440	183	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	186	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413197807 CA360908244	186	D>N		No	ClinGen gnomAD
CA3378681 rs752107210	186	D>V		No	ClinGen ExAC gnomAD
CA360908233 rs1335071896	187	I>T		No	ClinGen gnomAD
rs778504601 CA3378680	188	F>Y		No	ClinGen ExAC gnomAD
CA3378678 rs753506278	191	N>D		No	ClinGen ExAC gnomAD
rs766197274 CA3378677	191	N>I		No	ClinGen ExAC gnomAD
CA360908189 rs1186197034	193	L>F		No	ClinGen gnomAD
CA3378674 rs151134567	195	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs142074369 CA3378673	195	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1271599382 CA360908174	196	H>R		No	ClinGen gnomAD
CA3378672 rs774247040	196	H>Y		No	ClinGen ExAC gnomAD
CA3378671 rs377520092	198	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1447311367 CA360908161	198	K>R		No	ClinGen gnomAD
rs1484198733 CA360908155	199	Q>*		No	ClinGen TOPMed
rs77658895 CA126310257	200	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3378658 rs77658895	200	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3378656 rs755837835	201	Q>*		No	ClinGen ExAC gnomAD
rs1322115432 CA360908122	202	L>*		No	ClinGen gnomAD
CA126310256 rs189285497	203	K>R		No	ClinGen 1000Genomes
CA126310255 rs892278456	204	T>S		No	ClinGen Ensembl
CA360908103 rs1271526274	205	S>N		No	ClinGen gnomAD
CA3378654 rs767949863	205	S>R		No	ClinGen ExAC TOPMed gnomAD
CA360908102 rs1271526274	205	S>T		No	ClinGen gnomAD
TCGA novel	206	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1230267580 CA360908087	207	S>F		No	ClinGen gnomAD
rs939250992 CA126310254	208	S>R		No	ClinGen Ensembl
CA3378652 rs757613658	209	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA126310253 rs200334185	209	Q>L		No	ClinGen gnomAD
CA360908069 rs1340290760	210	Y>C		No	ClinGen gnomAD
rs752075082 CA3378651	211	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3378649 rs775551476	213	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3378647 rs759774875	213	R>L		No	ClinGen ExAC gnomAD
rs759774875 CA3378646	213	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs775551476 CA3378648	213	R>W		No	ClinGen ExAC TOPMed gnomAD
CA126310252 rs200099698	214	M>T		No	ClinGen 1000Genomes
rs372519882 CA126310251	215	Q>L		No	ClinGen ESP TOPMed
CA3378643 rs771866994	216	P>L		No	ClinGen ExAC gnomAD
TCGA novel	216	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3378644 rs183646069	216	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747956281 CA3378642	217	T>P		No	ClinGen ExAC TOPMed gnomAD
CA126310250 rs747428307	217	T>S		No	ClinGen Ensembl
CA3378641 rs774329360	218	N>D		No	ClinGen ExAC TOPMed gnomAD
CA360908006 rs1250530705	221	L>V		No	ClinGen gnomAD
CA3378640 rs768731604	222	S>C		No	ClinGen ExAC TOPMed gnomAD
CA360907993 rs1488742113	223	T>I		No	ClinGen gnomAD
rs748745635 CA3378639	224	L>P		No	ClinGen ExAC gnomAD
CA3378638 rs779745044	225	E>D		No	ClinGen ExAC
CA3378637 rs755782649	226	C>R		No	ClinGen ExAC gnomAD
rs368909066 CA126310246	227	A>T		No	ClinGen ESP TOPMed gnomAD
CA360907964 rs1447510644	228	A>G		No	ClinGen TOPMed
CA3378633 rs751927478	229	V>A		No	ClinGen ExAC gnomAD
CA3378634 rs757636892	229	V>I		No	ClinGen ExAC TOPMed gnomAD
rs758934760 CA360907955	230	A>D		No	ClinGen ExAC gnomAD
CA3378632 rs148574499	230	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3378631 rs758934760	230	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs572625783 CA3378630	231	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA360907945 rs1360278672	232	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA126310245 rs774829261	233	I>M		No	ClinGen Ensembl
rs765276901 CA3378629	233	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1392755177 CA360907916	236	K>N		No	ClinGen TOPMed gnomAD
rs140010019 CA3378628	236	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1433238587 CA360907891	240	I>L		No	ClinGen TOPMed gnomAD
CA360907885 rs1427229050	240	I>M		No	ClinGen gnomAD
rs1433238587 CA360907890	240	I>V		No	ClinGen TOPMed gnomAD
rs1184702712 CA360907882	241	Q>*		No	ClinGen TOPMed gnomAD
rs1184702712 CA360907884	241	Q>K		No	ClinGen TOPMed gnomAD
CA3378626 rs538930463	241	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360907874 rs1263550345	242	E>G		No	ClinGen gnomAD
CA3378604 rs144844733	243	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360907854 rs1354701709	243	T>I		No	ClinGen gnomAD
CA126309314 rs144844733	243	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	245	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3378603 rs149822662	246	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3378602 rs140154641 COSM202164	246	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA360907831 rs1445490359	247	P>L		No	ClinGen TOPMed gnomAD
CA360907832 rs1445490359	247	P>R		No	ClinGen TOPMed gnomAD
CA360907834 rs1304375975	247	P>S		No	ClinGen gnomAD
TCGA novel	249	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360907813 rs1293147790	250	A>D		No	ClinGen TOPMed
CA3378600 rs759029415	252	C>R		No	ClinGen ExAC gnomAD
TCGA novel	255	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360907779 rs1580758467	255	Q>R		No	ClinGen Ensembl
CA3378597 rs746619578	256	L>R		No	ClinGen ExAC TOPMed gnomAD
CA3378596 rs777441610	257	Q>H		No	ClinGen ExAC gnomAD
rs772417586 CA3378595	258	H>N		No	ClinGen ExAC gnomAD
rs748565203 CA3378594	258	H>R		No	ClinGen ExAC gnomAD
CA3378593 rs779331876	259	G>S		No	ClinGen ExAC gnomAD
rs1267248246 CA360907736	262	I>V		No	ClinGen gnomAD
CA3378591 rs753917662	263	R>C		No	ClinGen ExAC TOPMed gnomAD
CA360907728 rs1405045743	263	R>H		No	ClinGen TOPMed gnomAD
rs1405045743 CA360907726	263	R>L		No	ClinGen TOPMed gnomAD
CA3378590 rs780022182	266	K>R		No	ClinGen ExAC TOPMed gnomAD
CA360907696 rs1353808621	268	H>N		No	ClinGen gnomAD
rs112435002 CA126309312	268	H>R		No	ClinGen Ensembl
rs767918613 CA3378587	269	L>P		No	ClinGen ExAC TOPMed gnomAD
rs750583792 CA3378588	269	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1382491416 CA360907665	272	N>K		No	ClinGen gnomAD
CA3378584 rs765225091	274	L>*		No	ClinGen ExAC gnomAD
TCGA novel	274	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776678876 CA3378583	276	P>L		No	ClinGen ExAC gnomAD
CA3378582 rs776678876	276	P>R		No	ClinGen ExAC gnomAD
CA360907639 rs1161481741	277	K>E		No	ClinGen gnomAD
CA3378581 rs375418588	278	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs142887093 CA3378580	278	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs772833886 CA3378579	279	M>I		No	ClinGen ExAC gnomAD
CA360907627 rs992172501	279	M>L		No	ClinGen TOPMed
CA126309309 rs992172501	279	M>V		No	ClinGen TOPMed
CA360907609 rs1261401722	281	K>N		No	ClinGen gnomAD
rs771723034 CA3378578	281	K>T		No	ClinGen ExAC TOPMed gnomAD
rs748442317 CA3378577	283	K>R		No	ClinGen ExAC gnomAD
COSM3826598 CA3378576 rs200315964	284	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs769159957 CA3378575 COSM1059929	284	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs749741567 CA3378574	285	K>R		No	ClinGen ExAC gnomAD
CA360907573 rs1275422910	287	R>T		No	ClinGen gnomAD
rs756145111 CA360907568	288	K>*		No	ClinGen ExAC TOPMed gnomAD
CA3378572 rs756145111	288	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA360907561 rs1338149762	289	M>V		No	ClinGen gnomAD
CA360907541 rs1400359024	291	L>W		No	ClinGen gnomAD
rs746003723 CA3378571	293	M>I		No	ClinGen ExAC gnomAD
TCGA novel	294	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201791904 CA3378570	294	N>K		No	ClinGen ExAC TOPMed gnomAD
CA126309308 rs967949473	295	S>I		No	ClinGen TOPMed gnomAD
TCGA novel	295	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360907502 rs1173680934	297	K>E		No	ClinGen gnomAD
CA3378567 rs764917007	297	K>I		No	ClinGen ExAC TOPMed gnomAD
CA360907485 rs1234171224	299	I>W		No	ClinGen TOPMed gnomAD

No associated diseases with Q8NBA8

1 regional properties for Q8NBA8

Type	Name	Position	InterPro Accession
domain	DTW	65 - 260	IPR005636

Functions

		Description
EC Number	2.5.1.25	Transferring alkyl or aryl groups, other than methyl groups
Subcellular Localization	[Isoform 1]: Cytoplasm ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.

1 GO annotations of molecular function

Name	Definition
tRNA-uridine aminocarboxypropyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + tRNA uridine = 5'-methylthioadenosine + tRNA 3-(3-amino-3-carboxypropyl)-uridine.

1 GO annotations of biological process

Name	Definition
tRNA modification	The covalent alteration of one or more nucleotides within a tRNA molecule to produce a tRNA molecule with a sequence that differs from that coded genetically.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q47319	tapT	tRNA-uridine aminocarboxypropyltransferase	Escherichia coli (strain K12)	PR

10	20	30	40	50	60
MESQKEARTL	QEPVARPSGA	SSSQTPNDKE	RREGGAVPAA	AALGAEADDD	SADGLWELPV
70	80	90	100	110	120
EPAERRPECT	RCSRPQKVCL	CPFLPAHPLH	ISTHLYIIQH	PAEENKVLRT	VPLLAACLPQ
130	140	150	160	170	180
DKCKVKIGRR	FSEERDPELS	TVCRKSGTLI	LYPGAEAANL	EEFILDSPVY	PSTIIIIDGT
190	200	210	220	230	240
WSQAKDIFYK	NSLFRHPKQV	QLKTSISSQY	VIRMQPTNRC	LSTLECAAVA	LSILEKNNYI
250	260	270	280	290
QETLLRPLQA	LCSFQLQHGA	QIRLSKEHLL	KNGLYPKPMP	KNKRKLRKME	LLMNSVKI