AiPD: Autoinhibited Protein Database

Q86X76

Gene name	NIT1
Protein name	Deaminated glutathione amidase
Names	dGSH amidase, Nitrilase homolog 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4817
EC number	3.5.1.128: In linear amides
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-72 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-72 (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 Q86X76

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86X76-F1	Predicted				AlphaFoldDB

328 variants for Q86X76

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1205721 rs41270017	4	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs41270017 CA1205720	4	F>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA31637059 rs775584452	5	I>S		No	ClinGen TOPMed gnomAD
CA31637061 rs1041935437	6	T>P		No	ClinGen TOPMed
CA1205723 rs150000793	7	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	9	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1205724 rs773111936	9	P>L		No	ClinGen ExAC gnomAD
rs1336699803 CA343321680	9	P>S		No	ClinGen gnomAD
rs763298964 CA1205725	10	H>Q		No	ClinGen ExAC gnomAD
CA1205726 rs766584701	11	R>K		No	ClinGen ExAC gnomAD
rs1379349921 CA343321723	12	F>L		No	ClinGen gnomAD
CA31637074 rs1024465181	15	L>F		No	ClinGen TOPMed
rs1216235650 CA343321796	17	C>Y		No	ClinGen TOPMed
rs1232331949 CA343321817	18	P>L		No	ClinGen TOPMed gnomAD
rs774173536 CA1205727	19	G>E		No	ClinGen ExAC gnomAD
rs1557969181 CA343321855	21	R>Q		No	ClinGen Ensembl
CA1205728 rs759306541	21	R>W		No	ClinGen ExAC gnomAD
TCGA novel	23	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767253283 CA1205729	23	P>L		No	ClinGen ExAC gnomAD
CA1205730 rs752710458	24	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1205731 rs755936349	25	L>F		No	ClinGen ExAC gnomAD
rs763672402 CA1205733	26	S>L		No	ClinGen ExAC gnomAD
rs747236058 CA1205734	28	L>V		No	ClinGen ExAC
TCGA novel	29	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343321925 rs1441353426	29	C>Y		No	ClinGen gnomAD
CA1205735 rs374411556	30	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA31637106 rs1141246	31	Q>*		No	ClinGen TOPMed
TCGA novel	31	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343321943 rs1170833517	32	P>A		No	ClinGen gnomAD
rs147305024 CA1205736	32	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1205737 rs376658199	33	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs936909326 CA31637208	34	P>L		No	ClinGen TOPMed gnomAD
rs144963228 CA1205756	37	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1346226798 CA343322062	37	M>T		No	ClinGen TOPMed
rs1203103247 CA343322055	37	M>V		No	ClinGen gnomAD
rs1316550229 CA343322080	38	A>G		No	ClinGen gnomAD
rs560947728 CA1205760	39	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs778121604 CA1205762	39	I>S		No	ClinGen ExAC TOPMed
CA1205759 rs560947728	39	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs749748701 CA1205763	40	S>P		No	ClinGen ExAC TOPMed gnomAD
CA343322125 rs1193747919	41	S>F		No	ClinGen TOPMed
rs771032189 CA1205764	42	S>F		No	ClinGen ExAC gnomAD
TCGA novel	45	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746101682 CA1205766	45	E>K		No	ClinGen ExAC gnomAD
CA343322189 rs772170948	46	L>M		No	ClinGen ExAC TOPMed gnomAD
rs772170948 CA1205767	46	L>V		No	ClinGen ExAC TOPMed gnomAD
CA343322205 rs1190343183	47	P>R		No	ClinGen TOPMed
CA343322225 rs1426340980	49	V>A		No	ClinGen TOPMed gnomAD
rs1426340980 CA343322223	49	V>E		No	ClinGen TOPMed gnomAD
rs1474525301 CA343322231	50	A>T		No	ClinGen gnomAD
rs760352516 CA1205769 COSM1472883 COSM1472884	51	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA343322256 rs768683711	52	C>R		No	ClinGen ExAC TOPMed gnomAD
CA1205770 rs768683711	52	C>S		No	ClinGen ExAC TOPMed gnomAD
CA343322276 rs1459810862	53	Q>*		No	ClinGen gnomAD
rs1219049807 CA343322287	53	Q>H		No	ClinGen TOPMed
rs776453090 CA1205771	54	V>L		No	ClinGen ExAC gnomAD
CA1205772 rs761799763	56	S>W		No	ClinGen ExAC TOPMed gnomAD
rs865845863 CA343322371 CA31637241	59	D>E		No	ClinGen TOPMed
rs749943421 COSM1601136 COSM1601137 CA1205774	60	K>R	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA343322380 rs749943421	60	K>T		No	ClinGen ExAC gnomAD
rs149312832 CA1205775	62	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1205778 rs765921857	72	R>*		No	ClinGen ExAC
CA1205777 rs765921857	72	R>G		No	ClinGen ExAC
CA343322547 rs1258515918	72	R>Q		No	ClinGen TOPMed gnomAD
rs778161159 CA1205780	73	E>G		No	ClinGen ExAC TOPMed gnomAD
CA1205779 rs756458033	73	E>Q		No	ClinGen ExAC gnomAD
CA343322566 rs1264740401	75	A>V		No	ClinGen gnomAD
rs1397704366 CA343322568	76	R>G		No	ClinGen TOPMed
rs1484427205 CA343322572	76	R>I		No	ClinGen gnomAD
CA1205781 rs754349557	76	R>S		No	ClinGen ExAC gnomAD
rs1257550874 CA343322577	77	L>P		No	ClinGen TOPMed gnomAD
rs1425915471 CA343322580	78	G>C		No	ClinGen gnomAD
CA1205782 rs757702515	78	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA31637252 rs11555193	79	A>P		No	ClinGen Ensembl
rs1557970093 CA343322595	80	C>*		No	ClinGen Ensembl
rs745943058 CA1205786	81	L>P		No	ClinGen ExAC gnomAD
CA1205788 rs780113098	83	F>V		No	ClinGen ExAC gnomAD
rs768365021 CA1205790	84	L>R		No	ClinGen ExAC gnomAD
CA1205792 rs200179933	86	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343322625 rs1429103404	86	E>Q		No	ClinGen TOPMed
rs201860551 CA31637288	87	A>G		No	ClinGen Ensembl
rs769853200 CA1205793	88	F>S		No	ClinGen ExAC gnomAD
rs1191280369 CA343322648	89	D>V		No	ClinGen TOPMed
rs1571200547 CA343322661	91	I>V		No	ClinGen Ensembl
CA343322670 rs1375642786	92	A>G		No	ClinGen gnomAD
CA1205795 rs149045755	93	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1205794 rs200278216	93	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1211605984 CA343322675	94	D>N		No	ClinGen TOPMed
rs1257030047 CA343322686	95	P>R		No	ClinGen gnomAD
rs1209607858 CA343322685	95	P>S		No	ClinGen gnomAD
CA1205797 rs373270446	98	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	99	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343322716 rs1280432478	100	H>R		No	ClinGen TOPMed
rs764377826 CA1205799	100	H>Y		No	ClinGen ExAC gnomAD
rs1393577716 CA343322721	101	L>M		No	ClinGen gnomAD
CA1205800 rs754186210	102	S>C		No	ClinGen ExAC gnomAD
rs1176903525 CA343322747	105	L>P		No	ClinGen gnomAD
rs757827244 CA1205801	106	G>A		No	ClinGen ExAC gnomAD
CA343322754 rs1296420867	107	G>R		No	ClinGen gnomAD
CA1205804 rs1553227694	109	L>V		No	ClinGen Ensembl
CA1205807 rs765702221	110	L>F		No	ClinGen ExAC gnomAD
rs1310989488 CA343322792	112	E>G		No	ClinGen gnomAD
rs1557970480 CA343322808	114	T>I		No	ClinGen Ensembl
rs753514511 CA31637366	115	Q>P		No	ClinGen TOPMed gnomAD
rs753514511 CA343322812	115	Q>R		No	ClinGen TOPMed gnomAD
CA31637368 rs371279306	116	L>V		No	ClinGen Ensembl
rs1003161207 CA31637369	117	A>T		No	ClinGen TOPMed
CA343322825 rs1557970534	117	A>V		No	ClinGen Ensembl
rs1395057454 CA343322826	118	R>G		No	ClinGen gnomAD
rs757151544 CA1205841	119	E>A		No	ClinGen ExAC TOPMed gnomAD
CA343322845 rs1262307713	119	E>K		No	ClinGen TOPMed gnomAD
CA343322868 rs1186842058	122	L>F		No	ClinGen TOPMed
CA343322871 rs1557970846	122	L>P		No	ClinGen Ensembl
rs866756290 CA31637620	125	S>F		No	ClinGen Ensembl
rs1165038822 CA343322911	128	G>S		No	ClinGen gnomAD
CA343322932 rs1351265742	129	F>C		No	ClinGen gnomAD
rs760279706 CA1205844	131	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA1205845 rs770147089	132	R>C		No	ClinGen ExAC gnomAD
rs201355520 CA1205846	132	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1499237 CA31637667 COSM1499236 rs201355520	132	R>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1292031021 CA343323010	134	Q>R		No	ClinGen gnomAD
CA1205847 rs763439537	135	D>N		No	ClinGen ExAC gnomAD
rs1274159688 CA343323027	135	D>V		No	ClinGen TOPMed
CA1205848 rs766880182	136	W>G		No	ClinGen ExAC TOPMed gnomAD
CA1205849 rs751640717	137	E>Q		No	ClinGen ExAC
rs1353751419 CA343323070	138	Q>*		No	ClinGen TOPMed
rs759711881 CA1205850 COSM1335621 COSM1335620	139	T>A	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1315360237 CA343323094	139	T>I		No	ClinGen gnomAD
rs867597676 CA31637689	140	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1239406539 CA343323104	140	Q>R		No	ClinGen TOPMed
rs767668880 CA31637704	143	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1205851 rs767668880	143	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA1205852 rs752975536	144	N>S		No	ClinGen ExAC gnomAD
rs1445903936 CA343323192	145	C>S		No	ClinGen TOPMed
CA343323200 rs1371668132	146	H>N		No	ClinGen TOPMed
CA31637726 rs145321109 CA31637731	146	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA343323229 rs1235736476	147	V>A		No	ClinGen gnomAD
rs546850661 CA343323223	147	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546850661 CA1205854	147	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1553227845 CA1205856	151	S>N		No	ClinGen Ensembl
rs757178910 CA1205858	151	S>R		No	ClinGen ExAC gnomAD
CA1205859 rs778884481	152	K>E		No	ClinGen ExAC gnomAD
CA1205860 rs188458744	153	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA31637984 rs1008111123	154	A>T		No	ClinGen TOPMed
TCGA novel	155	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1205888 rs747714840	155	V>L		No	ClinGen ExAC gnomAD
rs148026339 CA31637988	156	V>E		No	ClinGen 1000Genomes
CA1205889 rs771335568	157	A>T		No	ClinGen ExAC gnomAD
rs774525620 CA1205890	158	T>A		No	ClinGen ExAC TOPMed gnomAD
rs774525620 CA1205891	158	T>P		No	ClinGen ExAC TOPMed gnomAD
CA343323508 rs1274369943	159	Y>*		No	ClinGen gnomAD
rs1345857477 CA343323535	161	K>R		No	ClinGen gnomAD
rs760812236 CA343323606	166	D>E		No	ClinGen ExAC TOPMed gnomAD
rs375837491 CA1205897	167	V>A		No	ClinGen ESP ExAC TOPMed
rs375837491 CA1205896	167	V>G		No	ClinGen ESP ExAC TOPMed
CA1205895 rs77329183	167	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343323633 rs1479002276	168	E>D		No	ClinGen TOPMed
rs1238347162 CA343323622	168	E>Q		No	ClinGen TOPMed gnomAD
CA1205898 rs765093684	169	I>N		No	ClinGen ExAC gnomAD
CA31637999 rs868256740	172	Q>*		No	ClinGen gnomAD
CA1205900 rs144687370	173	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	174	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs958214095 CA31638012	174	P>T		No	ClinGen Ensembl
rs1483394712 CA343323711	175	M>V		No	ClinGen TOPMed
CA1205901 rs758395896	178	S>R		No	ClinGen ExAC gnomAD
CA31638016 rs1031316581	179	N>K		No	ClinGen TOPMed
rs766283851 CA1205902	179	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1402678308 CA343323795	180	S>F		No	ClinGen TOPMed gnomAD
COSM1335622 rs531981250 COSM1335623 CA1205903	181	T>A	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1258638070 CA343323807	181	T>I		No	ClinGen TOPMed
rs1331745151 CA343323822	182	M>I		No	ClinGen gnomAD
CA343323809 rs1323201527	182	M>V		No	ClinGen gnomAD
CA343323833 rs1315826766	183	P>L		No	ClinGen TOPMed
rs1315826766 CA343323832	183	P>R		No	ClinGen TOPMed
rs1200528679 CA343323826	183	P>S		No	ClinGen TOPMed
rs747854660 CA1205907	189	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	192	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343323968 rs1258497608	194	P>T		No	ClinGen gnomAD
rs755712751 CA1205908	196	G>D		No	ClinGen ExAC gnomAD
CA343324012 rs1266318969	197	K>N		No	ClinGen gnomAD
CA343324009 rs1207672994	197	K>R		No	ClinGen TOPMed gnomAD
CA1205929 rs148079618	200	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA343324093 rs148079618	200	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA343324106 rs1420444068	201	A>T		No	ClinGen gnomAD
rs1444887216 CA343324114	202	V>L		No	ClinGen gnomAD
CA343324146 rs1211766032	204	Y>S		No	ClinGen gnomAD
CA1205931 rs748897347	205	D>A		No	ClinGen ExAC TOPMed gnomAD
rs931035041 CA31638126	205	D>H		No	ClinGen Ensembl
CA1205933 rs200236741	207	R>P		No	ClinGen ExAC TOPMed gnomAD
rs200236741 CA31638128	207	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1205932 rs758861501	207	R>W		No	ClinGen ExAC TOPMed gnomAD
rs781430926 CA31638137	211	L>F		No	ClinGen Ensembl
CA343324249 rs769029623	212	S>P		No	ClinGen ExAC TOPMed gnomAD
rs769029623 CA1205936	212	S>T		No	ClinGen ExAC TOPMed gnomAD
rs781397767 CA1205937	214	A>T		No	ClinGen ExAC gnomAD
CA31638140 rs1049557319	214	A>V		No	ClinGen gnomAD
CA1205939 rs147269138	218	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1205938 rs748144362	218	A>T		No	ClinGen ExAC gnomAD
rs1360796913 CA343324348	220	A>G		No	ClinGen TOPMed
CA1205940 rs773456617	220	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1205941 rs376441984	221	E>Q		No	ClinGen ESP ExAC gnomAD
CA343324373 rs1425977107	222	I>T		No	ClinGen gnomAD
CA343324365 rs1257263156	222	I>V		No	ClinGen gnomAD
CA1205942 rs770727339	223	L>F		No	ClinGen ExAC gnomAD
CA343324395 rs1440334822	224	T>N		No	ClinGen TOPMed gnomAD
rs748327940 CA1205943	225	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1205944 rs748327940	225	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA343324417 rs1346853845	226	P>S		No	ClinGen gnomAD
rs767328446 CA1205945	227	S>L		No	ClinGen ExAC gnomAD
rs1557972359 CA343324441	228	A>V		No	ClinGen Ensembl
CA31638172 rs890088930	229	F>S		No	ClinGen TOPMed
rs144821669 CA1205947	231	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1205946 rs201644403	231	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1328787338 CA343324481	232	I>L		No	ClinGen gnomAD
CA343324525 rs1490231802	235	P>L		No	ClinGen TOPMed
rs753541320 CA1205949	235	P>S		No	ClinGen ExAC gnomAD
rs994992105 CA343324534	236	A>D		No	ClinGen TOPMed
rs201971149 CA1205951	236	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA31638210 rs201971149	236	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs994992105 CA31638218	236	A>V		No	ClinGen TOPMed
CA1205953 rs755547476	237	H>R		No	ClinGen ExAC
rs1484439090 CA343324540	237	H>Y		No	ClinGen gnomAD
rs1314500229 CA343324573	238	W>*		No	ClinGen TOPMed
rs1197157251 CA343326173	240	V>L		No	ClinGen TOPMed
rs1197157251 CA343326169	240	V>M		No	ClinGen TOPMed
CA1205973 rs760590621	242	L>V		No	ClinGen ExAC gnomAD
rs900793679 CA31640261	243	R>Q		No	ClinGen TOPMed gnomAD
CA1205974 rs144065383	243	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1267911254 CA343326244	244	A>S		No	ClinGen gnomAD
rs761624228 CA1205976	245	R>C		No	ClinGen ExAC TOPMed gnomAD
rs760305021 CA31640270	245	R>H		No	ClinGen gnomAD
rs950872287 CA31640271	246	A>D		No	ClinGen TOPMed
rs764949359 CA1205977	246	A>T		No	ClinGen ExAC TOPMed
CA343326313 rs1172083112	247	I>M		No	ClinGen TOPMed gnomAD
CA343326309 rs1276714026	247	I>T		No	ClinGen TOPMed gnomAD
CA1205978 rs553049615	247	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1456915436 CA343326333	248	E>D		No	ClinGen gnomAD
rs148237758 CA1205979	248	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs781555127 CA1205980	253	V>A		No	ClinGen ExAC gnomAD
CA1205981 rs556942713	254	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA343326445 rs1557972938	255	A>T		No	ClinGen Ensembl
rs756601342 CA1205982	256	A>T		No	ClinGen ExAC gnomAD
rs184919184 CA1205984	258	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749380684	258	Q>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA343326566 rs1163032160	261	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs749338832 CA1205985	261	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA343326590 rs1557972983	262	H>Q		No	ClinGen Ensembl
rs757526889 CA1205986	263	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA343326621 rs1437599922	264	E>Q		No	ClinGen TOPMed
CA1205987 rs779029144	265	K>E		No	ClinGen ExAC TOPMed gnomAD
rs746060088 CA1205988	265	K>R		No	ClinGen ExAC TOPMed gnomAD
rs746060088 CA343326651	265	K>T		No	ClinGen ExAC TOPMed gnomAD
rs190215650 CA31640319 COSM283262	266	R>I	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs190215650 CA1205989	266	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343326691 rs1053791840	267	A>S		No	ClinGen TOPMed
CA31640321 rs1053791840	267	A>T		No	ClinGen TOPMed
rs893811820 CA31640334	268	S>N		No	ClinGen Ensembl
CA343326739 rs1262469592	269	Y>C		No	ClinGen gnomAD
rs747000266 CA1205991	270	G>S		No	ClinGen ExAC gnomAD
rs1411132801 CA343326762	270	G>V		No	ClinGen gnomAD
rs768709303 CA1205992	271	H>Y		No	ClinGen ExAC gnomAD
rs761383084 CA1205994	272	S>G		No	ClinGen ExAC
rs1417402800 CA343326806	272	S>I		No	ClinGen gnomAD
rs772746414 CA1205996	273	M>I		No	ClinGen ExAC TOPMed gnomAD
CA1205995 rs764801882	273	M>V		No	ClinGen ExAC gnomAD
rs753105093 CA1205999	275	V>L		No	ClinGen ExAC gnomAD
CA343326871 rs1325310126	276	D>E		No	ClinGen TOPMed
CA1206000 rs367895808	277	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1206001 rs764564526	278	W>G		No	ClinGen ExAC gnomAD
rs754296542 CA1206002	279	G>A		No	ClinGen ExAC gnomAD
rs78463473 CA1206003	281	V>M		No	ClinGen 1000Genomes ExAC
CA1206004 rs778982723	282	V>G		No	ClinGen ExAC gnomAD
CA1206005 rs746087991	284	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201109189 CA1206006	284	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs201109189 CA343327019	284	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1206008 rs746769362	286	S>F		No	ClinGen ExAC gnomAD
rs779778998 CA1206007	286	S>P		No	ClinGen ExAC TOPMed gnomAD
CA343327062 rs1157319114	287	E>G		No	ClinGen TOPMed
rs368649283 CA1206011	289	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1399047564 CA343327112	290	G>D		No	ClinGen TOPMed gnomAD
CA1206012 rs769203266	290	G>R		No	ClinGen ExAC gnomAD
rs772765955 CA1206013	291	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1381426047 CA343327137	291	L>P		No	ClinGen gnomAD
rs775886525 CA1206016	292	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1489689110 CA343327147	292	C>R		No	ClinGen TOPMed
rs962328125 CA31640406	292	C>Y		No	ClinGen Ensembl
rs1358929921 CA343327193	294	A>T		No	ClinGen gnomAD
rs761052452 CA1206017	295	R>*		No	ClinGen ExAC TOPMed gnomAD
CA1206018 rs199912934	295	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754345246 CA1206019	296	I>M		No	ClinGen ExAC gnomAD
CA343327253 rs1571209336	297	D>A		No	ClinGen Ensembl
CA343327262 CA343327265 rs1239453796	297	D>E		No	ClinGen TOPMed gnomAD
CA1206020 rs34359959	299	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1206022 rs200514054	302	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs758588525 CA1206023	302	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs559900921 CA31640421	303	Q>R		No	ClinGen 1000Genomes
CA31640423 rs377471257	304	L>S		No	ClinGen Ensembl
CA343327393 rs1442377787	305	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs780298602 CA1206024	305	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1206025 COSM162918 rs751782007	306	R>*	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs375048732 CA1206026	306	R>Q	Variant assessed as Somatic; 4.637e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1206027 rs532171421	307	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1206028 rs532171421	307	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs976623483 CA31640434	307	H>Y		No	ClinGen Ensembl
CA1206030 rs143827217	308	L>P		No	ClinGen ESP ExAC
rs1232929066 CA343327458	309	P>S		No	ClinGen gnomAD
CA343327485 rs1425086442	310	V>A		No	ClinGen gnomAD
rs770300800 CA1206032	310	V>M		No	ClinGen ExAC TOPMed gnomAD
CA1206034 rs200668987	314	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1206035 rs761471860	314	R>H		No	ClinGen ExAC TOPMed gnomAD
rs761471860 CA343327575	314	R>L		No	ClinGen ExAC TOPMed gnomAD
rs776963968 CA1206036	315	R>G		No	ClinGen ExAC gnomAD
rs762290156 CA1206037	315	R>K		No	ClinGen ExAC TOPMed gnomAD
CA1206038 rs765742286	315	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1802399 CA31640456	317	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343327644 rs1223858113	318	L>F		No	ClinGen gnomAD
CA343327653 rs1339815529	318	L>P		No	ClinGen gnomAD
rs763114911 CA1206040	319	Y>C		No	ClinGen ExAC gnomAD
CA343327695 rs1557973698	320	G>D		No	ClinGen Ensembl
rs1045450892 CA31640462	321	N>H		No	ClinGen Ensembl
rs751845527 CA1206042	321	N>S		No	ClinGen ExAC gnomAD
rs376379316 CA1206046	323	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1206045 rs376379316	323	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs755237351 CA343327743	323	G>R		No	ClinGen ExAC gnomAD
rs755237351 CA1206043 COSM246039	323	G>S	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1206044 rs376379316	323	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1206049 rs749144819	326	L>M		No	ClinGen ExAC TOPMed gnomAD
rs749144819 CA1206048	326	L>V		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q86X76

3 regional properties for Q86X76

Type	Name	Position	InterPro Accession
conserved_site	Uncharacterised protein family UPF0012, conserved site	199 - 219	IPR001110
domain	Carbon-nitrogen hydrolase	46 - 306	IPR003010
domain	Nit1/2, carbon-nitrogen hydrolase domain	48 - 315	IPR045254

Functions

		Description
EC Number	3.5.1.128	In linear amides
Subcellular Localization	[Isoform 2]: Mitochondrion ;
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.
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.
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
deaminated glutathione amidase activity	Catalysis of the reaction: N-(4-oxoglutarate)-L-cysteinylglycine + H2O = 2-oxoglutarate + L-cysteinylglycine.

1 GO annotations of biological process

Name	Definition
cellular amide catabolic process	The chemical reactions and pathways resulting in the breakdown of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q32LH4	NIT1	Deaminated glutathione amidase	Bos taurus (Bovine)	PR

10	20	30	40	50	60
MLGFITRPPH	RFLSLLCPGL	RIPQLSVLCA	QPRPRAMAIS	SSSCELPLVA	VCQVTSTPDK
70	80	90	100	110	120
QQNFKTCAEL	VREAARLGAC	LAFLPEAFDF	IARDPAETLH	LSEPLGGKLL	EEYTQLAREC
130	140	150	160	170	180
GLWLSLGGFH	ERGQDWEQTQ	KIYNCHVLLN	SKGAVVATYR	KTHLCDVEIP	GQGPMCESNS
190	200	210	220	230	240
TMPGPSLESP	VSTPAGKIGL	AVCYDMRFPE	LSLALAQAGA	EILTYPSAFG	SITGPAHWEV
250	260	270	280	290	300
LLRARAIETQ	CYVVAAAQCG	RHHEKRASYG	HSMVVDPWGT	VVARCSEGPG	LCLARIDLNY
310	320
LRQLRRHLPV	FQHRRPDLYG	NLGHPLS