AiPD: Autoinhibited Protein Database

Q969Z3

Gene name	MTARC2
Protein name	Mitochondrial amidoxime reducing component 2
Names	mARC2, Molybdenum cofactor sulfurase C-terminal domain-containing protein 2, MOSC domain-containing protein 2, Moco sulfurase C-terminal domain-containing protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54996
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

13-83 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

13-83 (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 Q969Z3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q969Z3-F1	Predicted				AlphaFoldDB

295 variants for Q969Z3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs890046775 CA37592201	2	G>C		No	ClinGen TOPMed
VAR_062275 CA1403992 rs72472370	3	A>S		No	ClinGen UniProt ExAC dbSNP gnomAD
rs1481166873 CA344615900	4	S>C		No	ClinGen gnomAD
rs1054628173 CA37592240	6	S>F		No	ClinGen TOPMed gnomAD
CA344616008 rs1010693390	10	A>S		No	ClinGen TOPMed gnomAD
rs1010693390 CA37592256	10	A>T		No	ClinGen TOPMed gnomAD
CA344616042 rs1321500876	13	G>R		No	ClinGen TOPMed
CA344616056 rs1281103448	14	L>P		No	ClinGen gnomAD
CA344616075 rs1443379108	16	A>V		No	ClinGen TOPMed gnomAD
rs1572287138 CA344616080	17	R>G		No	ClinGen Ensembl
CA37592286 rs1022441098	17	R>Q		No	ClinGen TOPMed gnomAD
CA344616098 rs1248361825	18	P>R		No	ClinGen TOPMed
CA344616121 rs1434494877	20	P>H		No	ClinGen TOPMed gnomAD
CA344616119 rs1482053974	20	P>S		No	ClinGen TOPMed
CA344616134 rs761128198	21	R>S		No	ClinGen ExAC gnomAD
rs1376793525 CA344616142	22	W>*		No	ClinGen gnomAD
rs766616030 CA1404001	22	W>G		No	ClinGen ExAC
CA1404002 rs754376600	23	L>I		No	ClinGen ExAC
rs1460348686 CA344616158	24	G>R		No	ClinGen gnomAD
CA1404004 rs779024480	25	V>I		No	ClinGen ExAC gnomAD
CA344616203 rs1435178670	27	A>E		No	ClinGen gnomAD
rs1366984016 CA344616199	27	A>T		No	ClinGen gnomAD
CA1404006 rs758660627	29	G>R		No	ClinGen ExAC
rs12039771 CA1404007	31	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1277154889 CA344616265	31	A>V		No	ClinGen gnomAD
rs747159101 CA1404008	32	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1404009 rs199518555	33	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1353973746 CA344616304	34	A>G		No	ClinGen TOPMed
rs1038434883 CA37592383	36	G>E		No	ClinGen TOPMed
rs1209611049 CA344616317	36	G>R		No	ClinGen TOPMed gnomAD
CA344616392 rs745874324	41	R>C		No	ClinGen ExAC gnomAD
CA344616389 rs745874324	41	R>G		No	ClinGen ExAC gnomAD
CA1404011 rs745874324	41	R>S		No	ClinGen ExAC gnomAD
rs769610751 CA1404012	42	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1404013 rs775176485	42	R>H		No	ClinGen ExAC gnomAD
CA1404014 rs762525609	43	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1200610234 CA344616425	44	W>*		No	ClinGen TOPMed
rs774180574 CA1404016	44	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1271794019 CA344616448	45	P>A		No	ClinGen TOPMed
CA1404017 rs761306985	46	R>K		No	ClinGen ExAC gnomAD
CA37592449 rs12566701	46	R>S		No	ClinGen Ensembl
rs1457393501 CA344616515	48	R>H		No	ClinGen gnomAD
CA1404019 rs548161289	49	R>L		No	ClinGen ExAC TOPMed gnomAD
rs548161289 CA37592464	49	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1404018 rs766782027	49	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1404020 rs760157315	50	R>Q		No	ClinGen ExAC gnomAD
rs1388054261 CA344616539	50	R>W		No	ClinGen gnomAD
CA37592486 rs536754621	51	L>P		No	ClinGen 1000Genomes TOPMed
CA1404023 rs753152927	54	V>G		No	ClinGen ExAC gnomAD
CA1404024 rs758504225	55	G>D		No	ClinGen ExAC TOPMed gnomAD
rs777762392 CA1404025	57	V>M		No	ClinGen ExAC gnomAD
rs1441900699 CA344616687	58	A>T		No	ClinGen Ensembl
CA1404026 rs751819822	61	W>C		No	ClinGen ExAC gnomAD
rs1484919316 CA344616731	61	W>R		No	ClinGen gnomAD
rs757404760 CA1404027	64	P>Q		No	ClinGen ExAC gnomAD
rs757404760 CA344616847	64	P>R		No	ClinGen ExAC gnomAD
CA344616873 rs1197209621	66	K>E		No	ClinGen gnomAD
rs745614561 CA1404029	66	K>R		No	ClinGen ExAC gnomAD
rs1572287491 CA344616909	67	S>P		No	ClinGen Ensembl
CA37592529 rs906446979	69	K>E		No	ClinGen TOPMed
rs1306231221 CA344616982	70	G>E		No	ClinGen TOPMed
rs780166713 CA1404031	71	V>L		No	ClinGen ExAC TOPMed gnomAD
CA344616989 rs780166713	71	V>M		No	ClinGen ExAC TOPMed gnomAD
CA1404032 rs749202210	72	P>R		No	ClinGen ExAC TOPMed gnomAD
CA344617017 rs1389396594	73	V>M		No	ClinGen gnomAD
rs747893657 CA1404035	74	S>R		No	ClinGen ExAC TOPMed gnomAD
CA1404036 rs372859442	75	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1410880056 CA344617060	76	A>T		No	ClinGen gnomAD
TCGA novel	77	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777094091 CA1404037	80	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1404040 rs775980613	81	M>I		No	ClinGen ExAC TOPMed gnomAD
CA1404039 rs765545043	81	M>T		No	ClinGen ExAC TOPMed
CA1404038 rs375692465	81	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA37592588 rs868184399	82	G>W		No	ClinGen Ensembl
CA344617171 rs1209727360	83	L>M		No	ClinGen TOPMed
rs763391473 CA1404041	84	R>L		No	ClinGen ExAC gnomAD
rs1483250044 CA344617196	85	S>G		No	ClinGen TOPMed gnomAD
rs751583558 CA1404043	88	L>P		No	ClinGen ExAC gnomAD
rs1165058707 CA344617286	89	R>Q		No	ClinGen gnomAD
CA344617300 rs1572287668	90	D>G		No	ClinGen Ensembl
rs757536689 CA344617292	90	D>N		No	ClinGen ExAC TOPMed gnomAD
rs757536689 CA1404044	90	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1213110862 CA344618439	93	W>C		No	ClinGen gnomAD
CA1404066 rs766337978	94	L>M		No	ClinGen ExAC gnomAD
CA344618485 rs1572293038	95	V>G		No	ClinGen Ensembl
rs1428970740 CA344618618	101	H>Y		No	ClinGen gnomAD
COSM383766 CA1404070 rs748069982	102	M>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1409060948 CA344618634	102	M>T		No	ClinGen gnomAD
rs778693979 CA1404069	102	M>V		No	ClinGen ExAC gnomAD
rs757850643 CA1404072 COSM245752	106	R>*	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1404071 rs757850643	106	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1404073 rs746721056	106	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344618767 rs1201440122	108	E>A		No	ClinGen TOPMed
CA1404075 rs780433918	109	P>L		No	ClinGen ExAC gnomAD
rs749628313 CA1404076	110	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769012478 CA1404077	110	R>H		No	ClinGen ExAC TOPMed gnomAD
rs145299584 CA37598171	112	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1626826 rs145299584 CA1404078	112	V>M	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA37598177 rs749638702	116	I>F		No	ClinGen ExAC TOPMed gnomAD
rs927578090 CA37598186	116	I>T		No	ClinGen Ensembl
CA1404079 rs749638702	116	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1322987256 CA344618980	117	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	118	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772062713 CA1404080	119	E>K		No	ClinGen ExAC gnomAD
rs1394054181 CA344619107	122	C>Y		No	ClinGen TOPMed
rs1469762799 CA344619188	125	F>C		No	ClinGen gnomAD
rs1157065323 CA344619212	126	R>S		No	ClinGen gnomAD
CA344619223 rs1415999324	127	A>V		No	ClinGen gnomAD
CA37598242 rs1008228539	128	P>S		No	ClinGen TOPMed gnomAD
CA344619252 rs1430010648	130	M>V		No	ClinGen TOPMed
rs1425423155 CA344619272	131	D>N		No	ClinGen gnomAD
rs1162829928 CA344619293	132	Q>R		No	ClinGen gnomAD
rs753736080 CA1404084	134	V>I		No	ClinGen ExAC TOPMed gnomAD
rs759427775 CA1404085	135	L>F		No	ClinGen ExAC
CA1404086 rs765015871	137	S>G		No	ClinGen ExAC TOPMed gnomAD
CA37598261 rs946514992	137	S>R		No	ClinGen Ensembl
rs752589678 CA1404087	139	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA37598269 rs900065211	140	P>A		No	ClinGen TOPMed gnomAD
rs900065211 CA344619390	140	P>S		No	ClinGen TOPMed gnomAD
CA344619387 rs900065211	140	P>T		No	ClinGen TOPMed gnomAD
CA1404088 rs142607102	141	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1404090 rs777213689	142	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1184116446 CA344619422	143	N>D		No	ClinGen gnomAD
TCGA novel	144	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751034365 CA1404091	144	K>R		No	ClinGen ExAC gnomAD
CA344619451 rs1343165210	145	L>I		No	ClinGen TOPMed
TCGA novel	145	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1572293322 CA344619466	146	H>R		No	ClinGen Ensembl
CA344619478 rs1274087778	147	N>S		No	ClinGen gnomAD
rs1466336652 CA344621221	149	R>S		No	ClinGen gnomAD
CA1404107 rs762837627	150	I>M		No	ClinGen ExAC gnomAD
rs375772593 CA1404106	150	I>V		No	ClinGen ESP ExAC TOPMed
rs764067663 CA1404108	151	F>S		No	ClinGen ExAC
CA344621306 rs369039131	152	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1404109 rs369039131	152	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA344621317 rs1474299865	152	G>V		No	ClinGen TOPMed gnomAD
CA1404110 rs756787075	153	L>F		No	ClinGen ExAC TOPMed gnomAD
rs780609974 CA1404111	153	L>P		No	ClinGen ExAC TOPMed gnomAD
rs534822816 CA1404113	154	D>N		No	ClinGen ExAC TOPMed gnomAD
CA37603767 rs534822816	154	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1404115 rs748515473	156	K>*		No	ClinGen ExAC gnomAD
CA1404116 rs546603284	156	K>N		No	ClinGen ExAC TOPMed gnomAD
CA1404118 rs150990509	157	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344621429 rs1324748628	158	R>G		No	ClinGen TOPMed gnomAD
rs776836785 CA1404120	158	R>K		No	ClinGen ExAC gnomAD
TCGA novel	158	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344621469 COSM1286249 rs1308891684	159	D>G	autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1261548471 CA344621502	161	G>S		No	ClinGen gnomAD
rs1486878442 CA344621530	162	N>D		No	ClinGen gnomAD
CA344621539 rs746143693	162	N>S		No	ClinGen ExAC gnomAD
rs746143693 CA1404121	162	N>T		No	ClinGen ExAC gnomAD
CA344621625 rs1201524872	165	A>T		No	ClinGen gnomAD
rs373235194 CA37603821	167	W>R		No	ClinGen ESP TOPMed
CA344621726 rs1480010390	169	T>P		No	ClinGen gnomAD
rs775194257 CA1404123	170	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1413792222 CA344621906	174	T>I		No	ClinGen gnomAD
rs140866237 CA1404124	176	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1380976479 CA344621989	177	Y>C		No	ClinGen gnomAD
CA1404126 rs774273805	177	Y>N		No	ClinGen ExAC gnomAD
CA344622049 rs1346511569	179	L>S		No	ClinGen gnomAD
rs761683898 CA1404127	181	Q>P		No	ClinGen ExAC gnomAD
rs1281601346 CA344622199	182	F>S		No	ClinGen gnomAD
TCGA novel	183	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344622269 rs1355543050	183	E>G		No	ClinGen TOPMed
rs767075248 CA1404128	183	E>Q		No	ClinGen ExAC gnomAD
rs749948440 CA1404129	184	T>I		No	ClinGen ExAC TOPMed gnomAD
rs755766041 CA1404130	185	N>T		No	ClinGen ExAC gnomAD
CA344622373 rs1224588886	186	M>T		No	ClinGen gnomAD
CA1404131 rs766033533	186	M>V		No	ClinGen ExAC gnomAD
TCGA novel	190	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	191	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377556510 CA1404132	195	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1011838447 CA37603872	196	P>L		No	ClinGen Ensembl
CA344622799 rs1197094774	196	P>T		No	ClinGen gnomAD
rs758823500 CA1404133	199	D>H		No	ClinGen ExAC gnomAD
CA344622961 rs1388246125	200	Q>H		No	ClinGen gnomAD
CA344622969 rs1419242999	201	N>H		No	ClinGen gnomAD
rs1275052508	204	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1558068053 CA344623915	205	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA1404151 rs765769266	206	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs754663530 CA1404153	207	P>L		No	ClinGen ExAC gnomAD
rs753534521 CA1404152	207	P>S		No	ClinGen ExAC TOPMed gnomAD
CA344623970 rs1312616327	208	D>V		No	ClinGen TOPMed
CA1404154 rs752545149	209	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA37604737 rs899609790	210	C>F		No	ClinGen gnomAD
CA1404155 rs371425032	210	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA344624015 rs899609790	210	C>Y		No	ClinGen gnomAD
rs757887186 CA1404156	211	P>L		No	ClinGen ExAC TOPMed gnomAD
rs757887186 CA344624063	211	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs756220352 CA1404159	214	I>F		No	ClinGen ExAC gnomAD
rs1382155507 CA344624252	217	D>H		No	ClinGen gnomAD
rs778724274 CA344624406	223	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1226502467 CA344624459	224	N>K		No	ClinGen gnomAD
CA37604784 rs866055510	225	T>I		No	ClinGen TOPMed gnomAD
CA344624482 rs866055510	225	T>N		No	ClinGen TOPMed gnomAD
CA37604788 rs932801684	226	R>K		No	ClinGen Ensembl
rs1162049722 CA344624525	227	M>L		No	ClinGen TOPMed
TCGA novel	228	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	229	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1462329629 CA344624608	230	K>E		No	ClinGen gnomAD
CA344624620 rs1203926441	230	K>N		No	ClinGen gnomAD
CA1404164 rs149492776	231	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs868149005 CA37604806	238	P>T		No	ClinGen Ensembl
rs541434400 CA1404165	240	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344624854 rs1558068212	242	V>M		No	ClinGen Ensembl
rs770489495 CA1404169	243	T>N		No	ClinGen ExAC gnomAD
VAR_030133 rs3795535 CA1404171	244	G>S	decreased catalytic efficiency toward benzamidoxime; no effect on affinity for benzamidoxime; no effect on binding of the molybdenum cofactor [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA344624930 rs1450608873	244	G>V		No	ClinGen gnomAD
rs752347965 CA1404173	245	C>R		No	ClinGen ExAC gnomAD
rs76664695 VAR_070777 CA1404174	245	C>W	decreased catalytic activity toward benzamidoxime; no effect on affinity for benzamidoxime; no effect on binding of the molybdenum cofactor [UniProt]	No	ClinGen UniProt ExAC dbSNP gnomAD
CA344624986 rs1293113205	246	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767848879 CA37604914	247	A>G		No	ClinGen gnomAD
rs201205507 CA37604907	247	A>T		No	ClinGen 1000Genomes gnomAD
rs569859816 CA1404195	252	T>A		No	ClinGen 1000Genomes ExAC
rs766777671 CA1404196	252	T>S		No	ClinGen ExAC gnomAD
TCGA novel	253	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1404197 rs754298246	253	W>R		No	ClinGen ExAC gnomAD
rs755082617 CA1404198	254	D>H		No	ClinGen ExAC TOPMed
CA344629968 rs1558076740	254	D>V		No	ClinGen Ensembl
CA1404199 rs140582959	257	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1477132043 CA344630020	258	I>V		No	ClinGen TOPMed gnomAD
rs752931958 CA1404200	259	G>S		No	ClinGen ExAC gnomAD
rs758537957 CA344630084	260	S>I		No	ClinGen ExAC TOPMed gnomAD
CA1404201 rs758537957	260	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1464187785 CA344630096	261	V>I		No	ClinGen TOPMed
rs1156752634 CA344630132	262	E>*		No	ClinGen gnomAD
rs147539004 CA1404203	262	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA344630205 rs1425227216	263	V>E		No	ClinGen gnomAD
CA37621281 rs1009940944	267	M>T		No	ClinGen TOPMed gnomAD
rs1443876121 CA344630465	268	A>P		No	ClinGen TOPMed gnomAD
rs1443876121 COSM904186 CA344630460	268	A>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs757028466 CA1404204	269	C>Y		No	ClinGen ExAC gnomAD
rs1030076189 CA37621311	270	P>R		No	ClinGen TOPMed
CA344630499 rs1371954160	270	P>S		No	ClinGen gnomAD
CA344630742 CA344630750 rs1247306521	271	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs957636500 CA37621411	272	C>G		No	ClinGen TOPMed gnomAD
rs147257085 CA1404219	276	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1404221 rs201177313	276	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1404220 rs201177313	276	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1404218 rs147257085	276	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs754860361 CA37621466	277	V>L		No	ClinGen Ensembl
CA344631003 rs1572321291	278	D>A		No	ClinGen Ensembl
CA1404223 rs745856441	279	P>R		No	ClinGen ExAC gnomAD
rs966859941 CA37621502	281	T>P		No	ClinGen TOPMed gnomAD
CA344631095 rs1245000732	282	G>R		No	ClinGen gnomAD
rs1313871403 CA344631123	283	V>A		No	ClinGen TOPMed
rs748728930 CA1404226	284	I>T		No	ClinGen ExAC TOPMed gnomAD
rs779753389 CA1404225	284	I>V		No	ClinGen ExAC gnomAD
rs572235855 CA1404228 CA1404227	285	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344631168 rs1476268603	285	D>N		No	ClinGen gnomAD
TCGA novel	285	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344631196 rs1418546884	286	R>K		No	ClinGen gnomAD
CA344631195 rs1418546884	286	R>M		No	ClinGen gnomAD
rs776968026 CA1404231	287	K>N		No	ClinGen ExAC gnomAD
CA1404230 rs376840867	287	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1369398204 CA344631229	288	Q>R		No	ClinGen gnomAD
CA344631320 rs1451349731	292	T>I		No	ClinGen gnomAD
CA1404260 rs761979205	297	R>C	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344631979 rs761979205	297	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1404261 rs199750926	297	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	298	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344631990 rs1201190696	298	L>M		No	ClinGen TOPMed
rs1357115436 CA344632011	299	C>R		No	ClinGen TOPMed gnomAD
CA37623218 rs890897967	301	P>T		No	ClinGen TOPMed
CA37623226 rs1026168816	304	R>S		No	ClinGen gnomAD
rs1187447033 CA344632143	304	R>T		No	ClinGen TOPMed
CA37623236 rs971046621	305	E>*		No	ClinGen gnomAD
CA1404263 rs760581308	307	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA344632209 rs1254281146	308	K>T		No	ClinGen gnomAD
rs1210862876 CA344632252	311	P>A		No	ClinGen TOPMed
rs1285289542 CA344632271	312	L>F		No	ClinGen gnomAD
rs1487181962 CA344632275	312	L>P		No	ClinGen gnomAD
TCGA novel	314	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1201225221 CA344632354	316	Y>*		No	ClinGen gnomAD
CA37623284 rs937683739	316	Y>C		No	ClinGen Ensembl
CA344632397 rs1269348793	318	S>L		No	ClinGen TOPMed gnomAD
CA344632427 rs1234908319	320	E>A		No	ClinGen TOPMed
CA1404267 rs778354953	321	K>N		No	ClinGen ExAC gnomAD
CA344632447 rs1196344132	322	I>L		No	ClinGen gnomAD
CA1404269 rs752222186	322	I>N		No	ClinGen ExAC gnomAD
rs752222186 CA1404268	322	I>T		No	ClinGen ExAC gnomAD
rs1196344132 CA344632453	322	I>V		No	ClinGen gnomAD
CA344632516 rs1287853600	326	R>G		No	ClinGen TOPMed gnomAD
CA1404271 rs746596753	326	R>K		No	ClinGen ExAC gnomAD
rs1360522941 CA344632533	327	V>I		No	ClinGen gnomAD
CA37623298 rs773825899	328	G>D		No	ClinGen TOPMed
rs1342206362 CA344632584	330	P>A		No	ClinGen TOPMed
CA344632593 rs1305283977	330	P>L		No	ClinGen gnomAD
rs1366611465 CA344632609	331	V>A		No	ClinGen gnomAD
rs558469899 COSM1295890 CA1404274	333	R>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA1404273 rs201955759	333	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs148666453 CA1404275 CA344632650	334	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs774340939 CA1404276	335	V>G		No	ClinGen ExAC gnomAD
CA1404278 rs772241673	336	V>E		No	ClinGen ExAC gnomAD
rs773576057 CA1404279	336	V>W		No	ClinGen ExAC gnomAD

No associated diseases with Q969Z3

2 regional properties for Q969Z3

Type	Name	Position	InterPro Accession
domain	Ribosomal protein L46, N-terminal	43 - 139	IPR021757
domain	Mitochondrial ribosomal protein L46 NUDIX	142 - 273	IPR033650

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion outer membrane; Peripheral membrane protein Peroxisome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
mitochondrial outer membrane	The outer, i.e. cytoplasm-facing, lipid bilayer of 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.
peroxisome	A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism.

6 GO annotations of molecular function

Name	Definition
molybdenum ion binding	Binding to a molybdenum ion (Mo).
molybdopterin cofactor binding	Binding to a molybdopterin cofactor (Moco), essential for the catalytic activity of some enzymes, e.g. sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. The cofactor consists of a mononuclear molybdenum (Mo-molybdopterin) or tungsten ion (W-molybdopterin) coordinated by one or two molybdopterin ligands.
nitrate reductase activity	Catalysis of the reaction: nitrite + acceptor = nitrate + reduced acceptor.
nitrite reductase activity	Catalysis of the reaction: nitrite + acceptor = product(s) of nitrate reduction + reduced acceptor.
oxidoreductase activity, acting on other nitrogenous compounds as donors	Catalysis of an oxidation-reduction (redox) reaction in which a nitrogenous group, excluding NH and NH2 groups, acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.
pyridoxal phosphate binding	Binding to pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6.

4 GO annotations of biological process

Name	Definition
cellular detoxification of nitrogen compound	Any cellular process that reduces or removes the toxicity of nitrogenous compounds which are dangerous or toxic. This includes the aerobic conversion of toxic compounds to harmless substances.
detoxification of nitrogen compound	Any process that reduces or removes the toxicity of nitrogenous compounds which are dangerous or toxic. This includes the aerobic conversion of toxic compounds to harmless substances.
nitrate metabolic process	The chemical reactions and pathways involving nitrates, inorganic or organic salts and esters of nitric acid.
nitric oxide biosynthetic process	The chemical reactions and pathways resulting in the formation of nitric oxide, nitrogen monoxide (NO), a colorless gas only slightly soluble in water.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MGASSSSALA	RLGLPARPWP	RWLGVAALGL	AAVALGTVAW	RRAWPRRRRR	LQQVGTVAKL
70	80	90	100	110	120
WIYPVKSCKG	VPVSEAECTA	MGLRSGNLRD	RFWLVIKEDG	HMVTARQEPR	LVLISIIYEN
130	140	150	160	170	180
NCLIFRAPDM	DQLVLPSKQP	SSNKLHNCRI	FGLDIKGRDC	GNEAAKWFTN	FLKTEAYRLV
190	200	210	220	230	240
QFETNMKGRT	SRKLLPTLDQ	NFQVAYPDYC	PLLIMTDASL	VDLNTRMEKK	MKMENFRPNI
250	260	270	280	290	300
VVTGCDAFEE	DTWDELLIGS	VEVKKVMACP	RCILTTVDPD	TGVIDRKQPL	DTLKSYRLCD
310	320	330
PSERELYKLS	PLFGIYYSVE	KIGSLRVGDP	VYRMV