AiPD: Autoinhibited Protein Database

Q9BQD7

Gene name	ANTKMT
Protein name	Adenine nucleotide translocase lysine N-methyltransferase
Names	ANT-KMT
Species	Homo sapiens (Human)
KEGG Pathway	hsa:65990
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

179-235 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

179-235 (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 Q9BQD7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BQD7-F1	Predicted				AlphaFoldDB

292 variants for Q9BQD7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1164611194 CA394092976	2	E>*		No	ClinGen gnomAD
rs1390893042 CA394092980	2	E>G		No	ClinGen gnomAD
rs1164611194 CA394092974	2	E>Q		No	ClinGen gnomAD
CA394092996 rs1306793352	3	Q>R		No	ClinGen gnomAD
rs11540049 CA394093013	4	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1410916541 CA394093010	4	D>G		No	ClinGen gnomAD
CA276518053 rs1027115089	4	D>N		No	ClinGen TOPMed
rs1247309012 CA394093029	5	D>E		No	ClinGen gnomAD
CA7788753 rs749191525	5	D>H		No	ClinGen ExAC TOPMed gnomAD
CA394093018 rs749191525	5	D>N		No	ClinGen ExAC TOPMed gnomAD
CA394093021 rs749191525	5	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA394093035 rs1341615706	6	P>Q		No	ClinGen gnomAD
CA394093031 rs1284977543	6	P>T		No	ClinGen gnomAD
rs1276777533 CA394093046	7	V>F		No	ClinGen TOPMed gnomAD
CA394093042 rs1276777533	7	V>I		No	ClinGen TOPMed gnomAD
rs1196268849 CA394093057	8	E>*		No	ClinGen gnomAD
rs1196268849 CA394093053	8	E>K		No	ClinGen gnomAD
CA276518061 rs578017646	10	L>P		No	ClinGen 1000Genomes TOPMed gnomAD
rs1390525747 CA394093093	11	T>M		No	ClinGen TOPMed gnomAD
rs1390525747 CA394093091	11	T>R		No	ClinGen TOPMed gnomAD
rs1179412658 CA394093097	12	E>Q		No	ClinGen TOPMed
CA394093117 rs1251197705	13	L>R		No	ClinGen TOPMed
CA394093130 rs1221807178	15	E>K		No	ClinGen TOPMed
CA394093149 rs1448434496	16	R>Q		No	ClinGen TOPMed gnomAD
CA276518071 rs959642142	17	R>Q		No	ClinGen Ensembl
rs1033837223 CA276518069	17	R>W		No	ClinGen Ensembl
CA7788757 rs771065091	19	G>D		No	ClinGen ExAC gnomAD
CA276518078 rs917944618	21	L>P		No	ClinGen TOPMed gnomAD
CA394093202 rs1403783613	22	E>Q		No	ClinGen TOPMed
rs1314087081 CA394093228	24	L>V		No	ClinGen TOPMed gnomAD
rs776954724 CA7788758	26	A>S		No	ClinGen ExAC gnomAD
CA276518083 rs979488558	26	A>V		No	ClinGen TOPMed gnomAD
rs745969740 CA7788759	27	A>T		No	ClinGen ExAC TOPMed gnomAD
CA394093266 rs1471063729	27	A>V		No	ClinGen TOPMed
rs1198680436 CA394093272	28	A>P		No	ClinGen TOPMed
rs1342927153 CA394093286	29	G>D		No	ClinGen gnomAD
CA394093295 rs572377243	30	S>*		No	ClinGen 1000Genomes TOPMed gnomAD
CA276518087 rs572377243	30	S>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA276518085 rs572377243	30	S>W		No	ClinGen 1000Genomes TOPMed gnomAD
CA394093298 rs1465616268	31	G>S		No	ClinGen TOPMed gnomAD
CA394093351 rs1255330554	33	A>V		No	ClinGen TOPMed gnomAD
CA394093368 rs1201967595	34	A>V		No	ClinGen TOPMed gnomAD
CA276518091 rs925321587	35	Y>H		No	ClinGen TOPMed gnomAD
CA7788761 rs776183425	36	A>T		No	ClinGen ExAC TOPMed
CA276518093 rs542894644	36	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1175453901 CA394093421	37	V>A		No	ClinGen TOPMed
CA276518097 rs936756311	37	V>L		No	ClinGen TOPMed gnomAD
CA394093412 rs936756311	37	V>M		No	ClinGen TOPMed gnomAD
rs975997760 CA276518099	38	W>*		No	ClinGen TOPMed gnomAD
rs1161857731 CA394093462	39	A>E		No	ClinGen Ensembl
rs920081758 CA276518101	41	L>Q		No	ClinGen TOPMed
CA394093496 rs1474878795	42	L>H		No	ClinGen gnomAD
CA394093503 rs1162686962	43	Q>*		No	ClinGen TOPMed gnomAD
CA394093511 rs1449519865	44	P>S		No	ClinGen gnomAD
rs1596586946 CA394093534	46	F>L		No	ClinGen Ensembl
CA394093542 rs1447802341	47	R>P		No	ClinGen TOPMed
rs1596586954 CA394093538	47	R>W		No	ClinGen Ensembl
rs1567306435 CA394093567	49	V>G		No	ClinGen Ensembl
CA394093571 rs149844405	50	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1317942589 CA394093575	50	P>Q		No	ClinGen gnomAD
CA394093573 rs149844405	50	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7788763 rs149844405	50	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1567306450 CA394093587	51	L>Q		No	ClinGen Ensembl
rs1360738005 CA394093628	54	Q>H		No	ClinGen TOPMed
CA394093623 rs1303536244	54	Q>R		No	ClinGen gnomAD
rs1314808471 CA394093676	55	V>G		No	ClinGen TOPMed gnomAD
rs765868667 CA7788769	57	Y>*		No	ClinGen ExAC gnomAD
CA276518147 rs1031128381	57	Y>C		No	ClinGen TOPMed
CA276518145 rs985486230	57	Y>D		No	ClinGen TOPMed
CA394093756 rs1369770164	61	S>G		No	ClinGen gnomAD
rs956775468 CA276518151	61	S>T		No	ClinGen TOPMed
rs1388489446 CA394093768	62	A>S		No	ClinGen TOPMed gnomAD
rs1388489446 CA394093766	62	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA276518154 rs911067074	63	R>P		No	ClinGen Ensembl
CA7788771 rs573980446	65	V>G		No	ClinGen ExAC TOPMed gnomAD
CA394093800 rs987210761	66	E>*		No	ClinGen TOPMed gnomAD
CA394093805 rs1269711700	66	E>G		No	ClinGen gnomAD
CA276518157 rs987210761	66	E>K		No	ClinGen TOPMed gnomAD
rs373648885 CA7788772	67	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1220307184 CA394093834	68	V>A		No	ClinGen gnomAD
CA394093858 rs1596587743	70	S>L		No	ClinGen Ensembl
rs1219595268 CA394093883	72	L>R		No	ClinGen TOPMed
TCGA novel	73	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394093886 rs1251724792	73	R>G		No	ClinGen gnomAD
CA394093892 rs1471859984	73	R>L		No	ClinGen TOPMed gnomAD
rs1265624439 CA394093894	74	G>R		No	ClinGen TOPMed
CA394093909 rs1184804331	75	R>C		No	ClinGen TOPMed gnomAD
CA7788777 rs770070801	76	P>S		No	ClinGen ExAC gnomAD
CA276518163 rs772927398	79	T>M		No	ClinGen Ensembl
rs1162909078	79	T>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1425364736 CA394093973	80	V>A		No	ClinGen gnomAD
CA394093983 rs1303755958	81	D>G		No	ClinGen gnomAD
CA276518165 rs1019579106	81	D>N		No	ClinGen TOPMed
CA7788779 rs749319368	82	L>P		No	ClinGen ExAC gnomAD
rs1407854166 CA394094005	83	G>D		No	ClinGen TOPMed gnomAD
rs1344785753 CA394094016	84	S>A		No	ClinGen TOPMed
rs368914392 CA7788781	84	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA394094030 rs1227423982	85	G>D		No	ClinGen gnomAD
rs1596587850 CA394094028	85	G>S		No	ClinGen Ensembl
CA394094043 rs1406808591	86	D>G		No	ClinGen TOPMed
rs1323072266 CA394094037	86	D>N		No	ClinGen gnomAD
rs1391757453 CA394094060	87	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs774870692 CA7788782	88	R>G		No	ClinGen ExAC
CA394094069 rs1222596821	88	R>K		No	ClinGen gnomAD
CA276518168 rs565493087	89	I>F		No	ClinGen 1000Genomes
CA394094090 rs372210970	89	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA394094128 rs1246406637	91	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	92	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394094158 rs764051935	93	A>G		No	ClinGen ExAC TOPMed gnomAD
CA394094154 rs1194012354	93	A>S		No	ClinGen gnomAD
rs764051935 CA7788813	93	A>V		No	ClinGen ExAC TOPMed gnomAD
CA394094174 rs1189008238	94	H>Q		No	ClinGen TOPMed
rs62032514 CA394094181	95	R>K		No	ClinGen gnomAD
rs62032514 CA276518206	95	R>M		No	ClinGen gnomAD
CA7788814 rs751428024	95	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7788815 rs757065673	97	G>D		No	ClinGen ExAC TOPMed gnomAD
CA276518208 rs902798089	97	G>S		No	ClinGen Ensembl
rs757065673 CA394094213	97	G>V		No	ClinGen ExAC TOPMed gnomAD
CA394094231 rs1158046995	99	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA394094229 rs1158046995	99	R>G		No	ClinGen TOPMed gnomAD
CA7788816 rs766556681	100	P>R		No	ClinGen ExAC TOPMed gnomAD
CA394094262 rs1285722092 COSM1206191	101	A>D	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs755078999 CA7788818	101	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1032775585 CA276518214	102	V>M		No	ClinGen gnomAD
CA7788819 rs556451617	103	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748118024 CA7788820	103	G>D		No	ClinGen ExAC TOPMed gnomAD
CA276518216 rs556451617	103	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA276518219 rs1020097186	104	Y>*		No	ClinGen TOPMed gnomAD
rs12931094 CA394094305	105	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7788821 rs12931094	105	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747397568 CA276518222	107	N>K		No	ClinGen ExAC TOPMed gnomAD
rs771265207 CA7788824	108	P>S		No	ClinGen ExAC TOPMed gnomAD
CA394094344 rs1391651572	110	L>Q		No	ClinGen TOPMed
rs1443630968 CA394094364	114	A>T		No	ClinGen TOPMed
CA394094369 rs1409427063	114	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs769250066 CA7788827	115	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7788828 rs775083357	117	H>D		No	ClinGen ExAC TOPMed gnomAD
CA7788829 rs775083357	117	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs774405758 CA7788831	118	A>T		No	ClinGen ExAC gnomAD
rs761738482 CA7788832	119	W>*		No	ClinGen ExAC TOPMed gnomAD
CA394094393 rs1366753013	119	W>*		No	ClinGen gnomAD
rs761738482 CA394094397	119	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1275626161 CA394094415	122	G>D		No	ClinGen TOPMed
rs1337872824 CA394094412	122	G>S		No	ClinGen gnomAD
rs767338108 CA7788833	123	C>Y		No	ClinGen ExAC gnomAD
CA7788834 rs754064432	124	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs374348606 CA276518234	125	G>C		No	ClinGen ESP TOPMed gnomAD
rs1292515092 CA394094430	125	G>D		No	ClinGen gnomAD
CA276518236 rs374348606	125	G>S		No	ClinGen ESP TOPMed gnomAD
CA394094445 rs1245941690	127	V>A		No	ClinGen TOPMed
CA394094442 rs1317667486	127	V>I		No	ClinGen TOPMed
CA394094450 rs1204302051	128	C>S		No	ClinGen gnomAD
CA394094452 rs1204302051	128	C>Y		No	ClinGen gnomAD
CA7788835 rs755241513	129	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA394094463 rs1439313528	130	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7788836 rs377656011	130	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs554137391 CA7788837	131	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554137391 CA394094468	131	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758431065 CA7788838	131	R>H		No	ClinGen ExAC gnomAD
rs758431065 CA394094469	131	R>L		No	ClinGen ExAC gnomAD
CA394094479 rs1164961071	133	D>N		No	ClinGen gnomAD
rs1385273764 CA394094487	134	L>I		No	ClinGen gnomAD
rs1306694374 CA394094496	135	W>*		No	ClinGen gnomAD
rs747489907 CA7788840	135	W>C		No	ClinGen ExAC gnomAD
CA394094501 rs1392330067	136	K>Q		No	ClinGen gnomAD
rs1471151018 CA394094525	137	V>G		No	ClinGen gnomAD
rs779904680 CA7788863	137	V>M		No	ClinGen ExAC gnomAD
CA394094529 rs1475087409	138	S>N		No	ClinGen TOPMed gnomAD
CA394094530 rs1475087409	138	S>T		No	ClinGen TOPMed gnomAD
CA394094538 rs1455787419	139	L>R		No	ClinGen gnomAD
CA276518269 rs867286741	140	R>G		No	ClinGen Ensembl
CA394094540 rs1458578129	140	R>K		No	ClinGen TOPMed
CA394094544 rs1290744351	140	R>S		No	ClinGen gnomAD
rs143857437 CA7788867	143	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA394094564 rs1300492922	143	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA394094563 rs1300492922	143	R>L		No	ClinGen TOPMed gnomAD
CA394094561 rs143857437	143	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA276518272 rs368615348	145	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7788868 rs368615348	145	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs772069424 CA7788870	146	S>F		No	ClinGen ExAC
rs1283621990 CA394094578	146	S>P		No	ClinGen TOPMed gnomAD
rs760557928 CA7788872	149	L>R		No	ClinGen ExAC gnomAD
TCGA novel	149	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7788875 rs763154136	150	A>D		No	ClinGen ExAC TOPMed gnomAD
CA7788874 rs775745377	150	A>P		No	ClinGen ExAC TOPMed gnomAD
rs763154136 CA394094604	150	A>V		No	ClinGen ExAC TOPMed gnomAD
rs751647833 CA7788878	151	P>L		No	ClinGen ExAC gnomAD
rs751647833 CA7788877	151	P>R		No	ClinGen ExAC gnomAD
CA7788876 rs146878454	151	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394094609 rs1411640789	152	S>G		No	ClinGen TOPMed gnomAD
rs545215282 CA7788879	153	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545215282 CA276518277	153	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394095492 rs200866589	155	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200866589 CA7788933	155	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA276518333 rs1041237575	155	P>S		No	ClinGen TOPMed gnomAD
rs1208300742 CA394095493	156	L>M		No	ClinGen gnomAD
CA394095522 rs1282294197	158	E>D		No	ClinGen gnomAD
rs1267739575 CA394095525	159	D>H		No	ClinGen TOPMed
CA394095541 rs1448800717	160	K>*		No	ClinGen gnomAD
CA7788936 rs778017814	162	R>L		No	ClinGen ExAC gnomAD
rs1197044460 CA394095590	164	E>K		No	ClinGen gnomAD
CA7788937 rs747126858	165	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7788938 rs771111371	166	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1265862944 CA394095675	168	G>E		No	ClinGen TOPMed
CA394095694 rs1405234247	169	A>V		No	ClinGen gnomAD
rs760115100 CA7788940	170	R>C		No	ClinGen ExAC gnomAD
CA7788941 rs539218688	170	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394095709 rs539218688	170	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394095697 rs760115100	170	R>S		No	ClinGen ExAC gnomAD
rs1048399143 CA276518340	171	V>M		No	ClinGen TOPMed gnomAD
rs375898918 TCGA novel CA7788942	172	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC gnomAD NCI-TCGA
rs763324614 CA7788943	174	G>R		No	ClinGen ExAC gnomAD
CA7788944 rs763681865	175	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM3787232 rs374487876 CA394095785	175	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7788945 rs374487876	175	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA276518344 rs924423814	176	F>L		No	ClinGen TOPMed gnomAD
CA394095822 rs1289183439	177	P>A		No	ClinGen gnomAD
rs761375228 CA7788946	178	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7788947 rs767012261	178	L>R		No	ClinGen ExAC
rs1567308537 CA394095870	179	P>L		No	ClinGen Ensembl
CA394095860 rs1270845508	179	P>S		No	ClinGen TOPMed gnomAD
rs756059989 CA7788949	180	T>A		No	ClinGen ExAC gnomAD
rs756059989 CA394095873	180	T>P		No	ClinGen ExAC gnomAD
rs1160471035 CA394095917	182	Q>*		No	ClinGen TOPMed
CA394095939 rs1361708355	183	P>L		No	ClinGen gnomAD
CA7788951 rs753607777	184	V>L		No	ClinGen ExAC gnomAD
CA7788953 rs777904789	186	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7788954 rs747221027	187	V>I		No	ClinGen ExAC gnomAD
CA394096040 rs1203609883	188	G>D		No	ClinGen gnomAD
rs1391184583 CA394096034	188	G>S		No	ClinGen gnomAD
CA7788956 rs781424027	189	E>K		No	ClinGen ExAC gnomAD
rs1053908008 CA276518353	190	G>S		No	ClinGen gnomAD
CA7788957 rs377313873	192	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA276518355 rs770223082	193	R>*		No	ClinGen ExAC gnomAD
rs770223082 CA7788958	193	R>G		No	ClinGen ExAC gnomAD
rs776021784 CA394096143	193	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7788959 rs776021784	193	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA394096150 rs1195020365	194	V>I		No	ClinGen gnomAD
rs1187722709 CA394096175	195	W>*		No	ClinGen TOPMed
rs774061275 CA394096197	196	A>G		No	ClinGen ExAC gnomAD
CA7788961 rs769055462	196	A>P		No	ClinGen ExAC gnomAD
CA7788962 rs774061275	196	A>V		No	ClinGen ExAC gnomAD
CA394096223 rs1209348015	197	Y>*		No	ClinGen TOPMed
CA394096217 rs1249817626	197	Y>F		No	ClinGen TOPMed
rs201512651 CA7788964	200	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1254386197 CA394096282	201	E>Q		No	ClinGen TOPMed
rs140432779 CA7788966	202	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1166551335 CA394096329	203	G>W		No	ClinGen gnomAD
CA394096363 rs1399049321	205	A>D		No	ClinGen gnomAD
CA394096361 rs1313022503	205	A>S		No	ClinGen TOPMed
CA394096378 rs1336309905	206	G>E		No	ClinGen gnomAD
rs760194287 CA7788967	206	G>W		No	ClinGen ExAC TOPMed gnomAD
rs200113308 CA276518363	207	E>*		No	ClinGen Ensembl
rs1596592580 CA394096396	207	E>G		No	ClinGen Ensembl
CA276518365 rs35368570	208	A>P		No	ClinGen Ensembl
TCGA novel	208	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374223722 CA7788970	209	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7788969 rs374223722	209	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145240437 CA7788971	210	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA394096462 rs1452614911	211	S>P		No	ClinGen TOPMed
rs757564119 CA7788973	212	R>L		No	ClinGen ExAC TOPMed gnomAD
CA276518373 rs757564119	212	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7788972 rs752472358	212	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	214	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781513674 CA7788974	215	I>V		No	ClinGen ExAC TOPMed gnomAD
rs756183634 CA394096554	216	Q>H		No	ClinGen ExAC gnomAD
rs745971830 CA7788975	216	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1391839396 CA394096574	218	A>V		No	ClinGen TOPMed
CA394096577 rs1184925215	219	P>L		No	ClinGen gnomAD
rs1184925215 CA394096576	219	P>R		No	ClinGen gnomAD
rs376683407 CA7788978	219	P>S		No	ClinGen ESP ExAC gnomAD
rs376683407 CA7788979	219	P>T		No	ClinGen ESP ExAC gnomAD
rs370792065 CA7788982	220	G>*		No	ClinGen ESP ExAC gnomAD
rs1441808324 CA394096579	220	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs370792065 CA7788980 CA7788981	220	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA394096583 rs771745454	221	P>A		No	ClinGen ExAC TOPMed gnomAD
rs771745454 CA7788983	221	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs576415783 CA7788984	225	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394096620 rs1202262852	225	P>S		No	ClinGen TOPMed
TCGA novel	226	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7788987 rs760152547	227	P>L		No	ClinGen ExAC TOPMed
rs759520249 CA7788990	228	G>R		No	ClinGen ExAC gnomAD
rs752560338 CA7788993	229	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7788991 rs765206764	229	G>S		No	ClinGen ExAC
rs752560338 CA7788992	229	G>V		No	ClinGen ExAC TOPMed gnomAD
rs755358433	230	L>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA276518387 rs372746685	232	S>C		No	ClinGen ESP TOPMed gnomAD
rs372746685 CA394096777	232	S>F		No	ClinGen ESP TOPMed gnomAD
CA7788994 rs767888033	234	A>T		No	ClinGen ExAC TOPMed gnomAD
rs913820427 CA276518390	234	A>V		No	ClinGen TOPMed gnomAD
rs1328062479 CA394096855	236	S>R		No	ClinGen gnomAD
rs1282344954 CA394096870	236	S>W		No	ClinGen gnomAD

No associated diseases with Q9BQD7

2 regional properties for Q9BQD7

Type	Name	Position	InterPro Accession
conserved_site	Aminoacyl-tRNA synthetase, class I, conserved site	39 - 49	IPR001412
domain	RNA-binding S4 domain	352 - 414	IPR002942

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion 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
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.
mitochondrial membrane	Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

1 GO annotations of molecular function

Name	Definition
protein-lysine N-methyltransferase activity	Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to the epsilon-amino group of a lysine residue in a protein substrate.

3 GO annotations of biological process

Name	Definition
peptidyl-lysine trimethylation	The methylation of peptidyl-lysine to form peptidyl-N6,N6,N6-trimethyl-L-lysine.
positive regulation of proton-transporting ATP synthase activity, rotational mechanism	Any process that activates or increases the frequency, rate or extent of proton-transporting ATP synthase activity, rotational mechanism.
regulation of mitochondrial ATP synthesis coupled proton transport	Any process that modulates the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MEQDDPVEAL	TELRERRLGA	LELLQAAAGS	GLAAYAVWAL	LLQPGFRRVP	LRLQVPYVGA
70	80	90	100	110	120
SARQVEHVLS	LLRGRPGKTV	DLGSGDGRIV	LAAHRCGLRP	AVGYELNPWL	VALARLHAWR
130	140	150	160	170	180
AGCAGSVCYR	RKDLWKVSLR	DCRNVSVFLA	PSVLPLLEDK	LRTELPAGAR	VVSGRFPLPT
190	200	210	220	230
WQPVTAVGEG	LDRVWAYDVP	EGGQAGEAAS	SRIPIQAAPG	PSSAPIPGGL	ISQAS