AiPD: Autoinhibited Protein Database

Q86UR1

Gene name	NOXA1 (P51NOX)
Protein name	NADPH oxidase activator 1
Names	NOX activator 1, Antigen NY-CO-31, NCF2-like protein, P67phox-like factor, p51-nox
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10811
EC number
Protein Class	NEUTROPHIL CYTOSOLIC FACTOR 2, NEUTROPHIL NADPH OXIDASE FACTOR 2 (PTHR15175)

Descriptions

The NADPH oxidases (NOX) play an essential role in the host defense against microbial pathogens. For NOX1, the isoform most highly expressed in the gut, the phox protein homologues NOXA1 and NOXO1 appear to be required for full fuctional activity. A functional SH3 domain plays an inhibition in the formation of the active NOX1 NADPH oxidase complex (inhibit oxidase activity). The target of the single SH3 domain in NOXA1 is the polyproline motif in the C-terminal region of NOXO1. The formation of the bond between the NOXA1 SH3 domain and the NOXO1 PxxP motif may be one of these steps accounting for the slower induction kinetics observed with wild-type NOXA1 compared with the truncated molecules.

Autoinhibitory domains (AIDs)

Target domain	1-273 (TPR repeats and activation domain)
Relief mechanism	Partner binding
Assay	Mutagenesis experiment, Deletion assay

AID

403-453 (SH3 domain)

Target domain

1-273 (TPR repeats and activation domain)

Relief mechanism

Partner binding (Interaction of SH3 domain with N-src)

Assay

Mutagenesis experiment, Deletion assay

Accessory elements

No accessory elements

References

Valente AJ et al. (2007) "NOX1 NADPH oxidase regulation by the NOXA1 SH3 domain", Free radical biology & medicine, 43, 384-96

Autoinhibited structure

Activated structure

2 structures for Q86UR1

Entry ID	Method	Resolution	Chain	Position	Source
7CFZ	X-ray	189 A	A/B	397-461	PDB
AF-Q86UR1-F1	Predicted				AlphaFoldDB

449 variants for Q86UR1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5368731 rs775788522	2	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5368732 rs775788522	2	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1341590778 CA375716157	3	S>Y		No	ClinGen gnomAD
rs1322681969 CA375716167	5	G>W		No	ClinGen gnomAD
CA5368736 rs112864733	6	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs914577058 CA375716171	6	D>N		No	ClinGen gnomAD
rs914577058 CA201736777	6	D>Y		No	ClinGen gnomAD
CA375716181 rs1193959078	7	L>R		No	ClinGen gnomAD
CA201736803 rs957690420	8	V>A		No	ClinGen TOPMed
rs1471545145 CA375716189	9	R>C		No	ClinGen gnomAD
rs1473814359 CA375716194	10	A>S		No	ClinGen TOPMed
CA375716216 rs1414523056	13	L>M		No	ClinGen gnomAD
rs867062779 CA201736816	14	G>V		No	ClinGen TOPMed gnomAD
CA375716226 rs1156544638	15	A>T		No	ClinGen gnomAD
rs766452293 CA5368739	16	Q>*		No	ClinGen ExAC gnomAD
rs753867593 CA5368740	16	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA5368743 rs747252789	19	D>G		No	ClinGen ExAC TOPMed gnomAD
CA5368745 rs781278322	20	R>G		No	ClinGen ExAC TOPMed gnomAD
CA375716259 rs1284256145	20	R>H		No	ClinGen gnomAD
CA375716313 rs1285996921	28	H>R		No	ClinGen gnomAD
CA5368747 rs769897688	28	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1244881885 CA375716324	30	F>L		No	ClinGen TOPMed gnomAD
CA375716334 rs1371095473	31	S>L		No	ClinGen TOPMed
rs918716798 CA375716338	32	G>C		No	ClinGen TOPMed
rs1393090526 CA375716341	32	G>D		No	ClinGen TOPMed
rs918716798 CA201736901	32	G>S		No	ClinGen TOPMed
rs980771128 CA375716343	33	V>F		No	ClinGen gnomAD
rs980771128 CA201736906	33	V>I		No	ClinGen gnomAD
CA5368749 rs749850148	34	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769002081 CA5368750	36	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5368752 rs761469977	38	A>P		No	ClinGen ExAC gnomAD
rs771645683 CA5368753	39	R>K		No	ClinGen ExAC gnomAD
rs1420121896 CA375716392	39	R>S		No	ClinGen gnomAD
CA5368756 rs766036724	43	N>T		No	ClinGen ExAC TOPMed gnomAD
rs759616041 CA5368758	44	A>V		No	ClinGen ExAC TOPMed gnomAD
rs563809302 CA5368759	46	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5368760 rs752452563	47	V>L		No	ClinGen ExAC gnomAD
rs752452563 CA375716514	47	V>M		No	ClinGen ExAC gnomAD
CA375716534 rs1020386814	48	H>Q		No	ClinGen TOPMed gnomAD
CA375716575 rs1281656524	51	A>P		No	ClinGen TOPMed gnomAD
CA375716578 rs1281656524	51	A>S		No	ClinGen TOPMed gnomAD
CA201737017 rs902342270	52	G>R		No	ClinGen TOPMed
CA375716619 rs1443277134	53	D>Y		No	ClinGen TOPMed gnomAD
CA375716635 rs1199557894	54	P>S		No	ClinGen gnomAD
rs1369674130 CA375716719	57	A>P		No	ClinGen TOPMed
rs760462802 CA5368773	60	A>G		No	ClinGen ExAC gnomAD
CA5368775 rs770563342	62	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1323958227 CA375717828	63	Q>H		No	ClinGen TOPMed
rs1588461512 CA375717808	63	Q>K		No	ClinGen Ensembl
rs146074768 CA375717843	64	A>D		No	ClinGen ESP TOPMed
rs146074768 CA201738908	64	A>G		No	ClinGen ESP TOPMed
CA375717840 rs1588461520	64	A>T		No	ClinGen Ensembl
rs77289873 CA5368778	65	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762628955 CA5368780	69	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5368781 rs762628955	69	T>N		No	ClinGen ExAC TOPMed gnomAD
CA375718040 rs1481550943	70	C>R		No	ClinGen gnomAD
rs750637508 CA5368782	71	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1460434903 CA375718081	71	M>L		No	ClinGen TOPMed
rs756331723 CA5368784	72	A>G		No	ClinGen ExAC TOPMed gnomAD
CA5368783 rs756331723 COSM1107105	72	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5368787 rs369411282	73	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA201738959 rs565800104	75	F>C		No	ClinGen Ensembl
rs1237958878 CA375718325	77	Q>*		No	ClinGen TOPMed
rs758678542 CA5368789	78	R>*		No	ClinGen ExAC TOPMed gnomAD
rs746595589 CA5368791	78	R>Q		No	ClinGen ExAC gnomAD
rs1346928848 CA375718413	79	G>A		No	ClinGen TOPMed gnomAD
rs1346928848 CA375718409	79	G>E		No	ClinGen TOPMed gnomAD
rs1346928848 CA375718415	79	G>V		No	ClinGen TOPMed gnomAD
rs770724744 CA5368792	81	A>T		No	ClinGen ExAC gnomAD
rs1307616746 CA375718526	82	N>K		No	ClinGen gnomAD
CA375718513 rs1276966197	82	N>Y		No	ClinGen TOPMed gnomAD
CA375718632 rs1263678024	84	Q>P		No	ClinGen gnomAD
CA201738979 rs774618380	86	A>E		No	ClinGen Ensembl
rs1184802285 CA375720865	89	Q>*		No	ClinGen gnomAD
CA5368808 rs747403058	89	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1418323581 CA375720955	91	A>D		No	ClinGen TOPMed gnomAD
rs1418323581 CA375720986	91	A>V		No	ClinGen TOPMed gnomAD
rs756933341 CA5368809	94	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1203086441 CA375721115	95	F>L		No	ClinGen TOPMed
rs1361914387 CA375721169	97	L>P		No	ClinGen TOPMed
CA5368812 rs769178904	98	A>P		No	ClinGen ExAC gnomAD
CA5368813 rs775067101	98	A>V		No	ClinGen ExAC gnomAD
rs866657919 CA201740468	99	L>M		No	ClinGen gnomAD
rs61748945 CA5368814	99	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs866657919 CA375721191	99	L>V		No	ClinGen gnomAD
CA375721319 rs1339659131	103	R>T		No	ClinGen TOPMed
CA5368819 rs61748939	105	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761565114 CA5368817	105	H>R		No	ClinGen ExAC gnomAD
CA5368820 rs541450807	106	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs191741320 CA5368821	107	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757678707 CA5368826	109	D>A		No	ClinGen ExAC TOPMed gnomAD
CA5368825 rs375108852	109	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA375721518 rs1173581459	110	Y>*		No	ClinGen TOPMed gnomAD
rs1420453614 CA375721500	110	Y>D		No	ClinGen gnomAD
rs145080773 CA5368827 COSM1569350	111	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA375721559 rs1161673522	112	Q>E		No	ClinGen TOPMed
CA375721600 rs1397956594	114	G>S		No	ClinGen gnomAD
CA375721637 rs1588463367	115	L>P		No	ClinGen Ensembl
CA5368830 rs146657444	116	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA201740606 rs748686366	116	R>Q		No	ClinGen TOPMed gnomAD
rs146657444 CA5368829	116	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1588463393 CA375721687	117	F>V		No	ClinGen Ensembl
CA5368832 rs376527892	118	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs778799857 CA5368833	120	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA5368834 rs748090793	121	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1224136462 CA375721812	121	A>S		No	ClinGen gnomAD
rs1465340521 CA375722091	124	V>E		No	ClinGen TOPMed
CA5368850 rs754427194	124	V>M		No	ClinGen ExAC TOPMed gnomAD
CA375722115 rs1229353768	125	L>P		No	ClinGen gnomAD
CA375722153 rs1430180885	127	N>S		No	ClinGen gnomAD
CA5368852 rs748072347	128	V>A		No	ClinGen ExAC gnomAD
CA5368853 rs772054008	129	A>T		No	ClinGen ExAC TOPMed gnomAD
rs569979187 CA5368854	129	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775727901 CA5368857	130	S>L		No	ClinGen ExAC TOPMed gnomAD
CA5368856 rs549201086	130	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1223924985 CA375722228	131	A>V		No	ClinGen gnomAD
CA5368859 rs768856239	133	C>R		No	ClinGen ExAC gnomAD
rs774634515 CA5368860	135	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1471740756 CA375722320	136	G>R		No	ClinGen gnomAD
rs77546115 CA375722336	137	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5368862 rs77546115	137	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375722374 rs1446292059	139	T>S		No	ClinGen gnomAD
CA5368864 rs374075113	141	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs151149799 CA5368867	142	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5368868 rs764712831	143	S>N		No	ClinGen ExAC gnomAD
CA375722463 rs1188771626	144	S>C		No	ClinGen gnomAD
rs1451054310 CA375722488	145	L>V		No	ClinGen TOPMed gnomAD
CA375722518 rs758297668	146	R>K		No	ClinGen ExAC TOPMed gnomAD
CA5368870 rs758297668	146	R>M		No	ClinGen ExAC TOPMed gnomAD
rs1444022822 CA375722555	147	E>D		No	ClinGen TOPMed
rs1307539319 CA375722561	148	A>T		No	ClinGen gnomAD
CA375722587 rs1285723290	149	M>I		No	ClinGen gnomAD
CA5368872 rs746938535	149	M>T		No	ClinGen ExAC gnomAD
rs1349452287 CA375722576	149	M>V		No	ClinGen gnomAD
CA5368873 rs757014475	150	S>F		No	ClinGen ExAC gnomAD
CA375722624 rs1243736297	151	K>Q		No	ClinGen gnomAD
rs367962813 CA5368875	151	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5368876 rs769052327	153	P>L		No	ClinGen ExAC TOPMed gnomAD
CA201741499 rs748200255	154	E>D		No	ClinGen ExAC TOPMed gnomAD
CA375722682 rs1588464627	154	E>G		No	ClinGen Ensembl
rs1228595597 CA375722695	155	G>V		No	ClinGen TOPMed
rs1588464642 CA375722700	156	S>A		No	ClinGen Ensembl
rs772301119 CA5368879	156	S>F		No	ClinGen ExAC TOPMed gnomAD
CA5368881 rs761090293	160	L>V		No	ClinGen ExAC gnomAD
rs1564237794 CA375722824	162	S>L		No	ClinGen Ensembl
rs1455083890 CA375722831	163	A>T		No	ClinGen TOPMed gnomAD
CA5368882 rs766761492	166	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1335593637 CA375722889	166	Q>R		No	ClinGen gnomAD
CA5368896 rs772124502	170	R>L		No	ClinGen ExAC TOPMed gnomAD
rs772124502 CA5368897	170	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs748396276 CA5368895	170	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5368899 rs559634022	174	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5368902 rs200897994	176	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201388549 CA5368901	176	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775062305 CA375723068	178	V>F		No	ClinGen ExAC TOPMed gnomAD
CA5368904 rs762594890	178	V>G		No	ClinGen ExAC gnomAD
rs775062305 CA5368903	178	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5368906 rs150380019	179	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA201741717 rs150380019	179	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1372950971 CA375723081	180	R>S		No	ClinGen gnomAD
CA5368908 rs767320230	181	G>V		No	ClinGen ExAC gnomAD
CA375723091 rs1588465062	182	E>G		No	ClinGen Ensembl
CA201741737 rs753090448	182	E>K		No	ClinGen gnomAD
CA201741740 rs974568271	183	V>G		No	ClinGen Ensembl
CA375723097 rs1423582575	183	V>I		No	ClinGen gnomAD
CA375723102 rs1303426685	184	F>V		No	ClinGen gnomAD
rs550567027 CA201741751	185	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs550567027 CA375723109	185	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA5368910 rs755916333	185	R>W		No	ClinGen ExAC TOPMed gnomAD
rs141015178 CA201741765	187	H>Q		No	ClinGen ESP TOPMed gnomAD
CA375723138 rs377187627	188	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5368913 rs377187627	188	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs145671685 CA5368912	188	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1358511873 CA375723152	189	W>C		No	ClinGen gnomAD
rs1222021763 CA375723158	190	H>Y		No	ClinGen gnomAD
rs979274629 CA201741766	191	L>P		No	ClinGen gnomAD
CA375723194 rs1188509324	193	H>N		No	ClinGen TOPMed
CA5368915 rs747096080	194	L>S		No	ClinGen ExAC gnomAD
CA201741781 rs879073978	197	V>M		No	ClinGen TOPMed gnomAD
CA375723268 rs1230800610	198	D>E		No	ClinGen TOPMed
rs746384016 CA5368918	198	D>N		No	ClinGen ExAC TOPMed gnomAD
CA375724283 rs1173583442	208	S>T		No	ClinGen gnomAD
rs1465465585 CA375724340	209	A>T		No	ClinGen TOPMed
CA375724418 rs1375485286	211	P>R		No	ClinGen TOPMed
CA5368945 rs376374050	212	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs768701953 CA5368947	213	D>N		No	ClinGen ExAC TOPMed gnomAD
CA375724546 rs1441289934	215	G>D		No	ClinGen gnomAD
rs757563084 CA5368950	218	V>I		No	ClinGen ExAC TOPMed gnomAD
rs370316575 CA5368951	219	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5368952 rs557059030	219	R>H		No	ClinGen 1000Genomes TOPMed
rs557059030 CA5368953	219	R>P		No	ClinGen 1000Genomes TOPMed
CA375724819 rs1228247411	220	P>L		No	ClinGen TOPMed
rs750547421 CA5368955	221	Q>R		No	ClinGen ExAC gnomAD
rs1281421686 CA375724859	222	Q>H		No	ClinGen gnomAD
CA375724843 rs1224655701	222	Q>K		No	ClinGen gnomAD
rs1317326148 CA375724910	224	Q>H		No	ClinGen TOPMed
rs370964957 CA5368980	226	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5368981 rs374385990	228	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs200123092 CA5368983	229	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1314826958 CA375725247	230	H>D		No	ClinGen gnomAD
CA375725260 rs1452195143	230	H>R		No	ClinGen TOPMed
rs769814670 CA5368985	231	D>N		No	ClinGen ExAC gnomAD
CA5369011 rs765244439	235	L>P		No	ClinGen ExAC gnomAD
CA375725708 rs1159936050	236	I>T		No	ClinGen gnomAD
CA201743228 rs200420287	240	P>A		No	ClinGen 1000Genomes gnomAD
CA375725834 rs200420287	240	P>S		No	ClinGen 1000Genomes gnomAD
CA201743229 rs971117485	242	A>G		No	ClinGen Ensembl
CA375725989 rs1476392828	244	T>A		No	ClinGen TOPMed
CA5369014 rs145541843	244	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752014926 CA5369015	245	H>P		No	ClinGen ExAC TOPMed gnomAD
CA375726077 rs1487864457	246	Q>K		No	ClinGen TOPMed
rs375571721 CA201743241	250	D>G		No	ClinGen ESP TOPMed gnomAD
CA5369017 rs780852558	250	D>N		No	ClinGen ExAC TOPMed gnomAD
CA375726342 rs750060064	255	V>F		No	ClinGen ExAC TOPMed gnomAD
rs750060064 CA5369019	255	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1449490165 CA375726395	256	G>D		No	ClinGen TOPMed
COSM3413490 CA5369021 rs141558298	256	G>S	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5369022 rs749210055	258	D>N		No	ClinGen ExAC gnomAD
CA5369024 rs369321711	259	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA375726530 rs369321711	259	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs778650350 CA5369026	259	R>H		No	ClinGen ExAC gnomAD
CA5369025 rs778650350	259	R>L		No	ClinGen ExAC gnomAD
rs1288344701 CA375726558	260	C>Y		No	ClinGen gnomAD
rs919223308 CA201743301	261	T>M		No	ClinGen TOPMed gnomAD
rs371771451 CA5369029	262	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371771451 CA375726614	262	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5369032 rs763528761	264	A>V		No	ClinGen ExAC gnomAD
rs764734694 CA5369033	267	E>G		No	ClinGen ExAC TOPMed gnomAD
rs368740251 CA375726752	268	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs368740251 CA5369034	268	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5369052 rs567310387	270	P>A		No	ClinGen ExAC TOPMed gnomAD
rs774936972 CA5369053	270	P>L		No	ClinGen ExAC gnomAD
CA5369051 rs567310387	270	P>S		No	ClinGen ExAC TOPMed gnomAD
CA375728216 rs1317713655	271	Q>R		No	ClinGen TOPMed
CA5369054 rs369944689	273	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA201745975 rs992693922	275	V>A		No	ClinGen TOPMed
rs140040865 CA5369055	275	V>I		No	ClinGen ESP ExAC gnomAD
CA375728410 rs1449262457	278	Q>*		No	ClinGen TOPMed
CA375728421 rs773498811	279	A>P		No	ClinGen ExAC TOPMed gnomAD
CA5369056 rs773498811	279	A>T		No	ClinGen ExAC TOPMed gnomAD
CA201745986 rs955595855	280	P>S		No	ClinGen Ensembl
rs1489545415 CA375728452	281	L>F		No	ClinGen TOPMed gnomAD
rs760345759 CA5369057	282	S>P		No	ClinGen ExAC gnomAD
CA375728480 rs1247890700	283	P>S		No	ClinGen gnomAD
CA5369079 rs752193230	284	G>E		No	ClinGen ExAC gnomAD
rs765977006 CA5369058	284	G>R		No	ClinGen ExAC gnomAD
CA375728492 rs765977006	284	G>R		No	ClinGen ExAC gnomAD
CA5369080 rs34155071 VAR_037986	286	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA201746090 rs1038439731	286	P>S		No	ClinGen TOPMed gnomAD
CA5369082 rs751531466	287	A>V		No	ClinGen ExAC gnomAD
CA5369084 rs757049376	288	M>T		No	ClinGen ExAC
rs1473183899 CA375728640	288	M>V		No	ClinGen gnomAD
rs367924256 CA375728668	289	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1312140063 CA375728664	289	G>R		No	ClinGen gnomAD
CA375728662 rs1312140063	289	G>R		No	ClinGen gnomAD
CA5369085 rs367924256	289	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs773184989 RCV000509315	291	P>missing		No	ClinVar dbSNP
rs866275008 CA201746119	291	P>L		No	ClinGen Ensembl
rs371067733 CA5369088	292	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs371067733 CA201746130	292	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5369089 rs779019621	293	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1564242034 CA375728713	294	G>A		No	ClinGen Ensembl
rs772216723 CA201746154	294	G>C		No	ClinGen ExAC TOPMed gnomAD
rs772216723 CA5369091	294	G>S		No	ClinGen ExAC TOPMed gnomAD
rs578190978 CA201746159	295	P>A		No	ClinGen 1000Genomes gnomAD
CA375728716 rs578190978	295	P>T		No	ClinGen 1000Genomes gnomAD
CA375728733 rs778082768	296	C>S		No	ClinGen ExAC TOPMed gnomAD
rs958286928 CA201746165	296	C>W		No	ClinGen TOPMed
rs778082768 CA5369092	296	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA375728752 rs1177915252	297	E>D		No	ClinGen gnomAD
rs1588470932 CA375728760	298	D>A		No	ClinGen Ensembl
rs1352582460 CA375728765	298	D>E		No	ClinGen gnomAD
CA375728785 rs771279656	300	A>P		No	ClinGen ExAC TOPMed gnomAD
rs771279656 CA375728783	300	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5369094 rs771279656	300	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5369095 rs777037361	300	A>V		No	ClinGen ExAC TOPMed gnomAD
rs769368591 CA5369097	301	G>R		No	ClinGen ExAC gnomAD
CA5369098 rs147311607	302	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs763668069 CA5369100	303	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1405959461 CA375728869	304	G>A		No	ClinGen gnomAD
CA375728868 rs1405959461	304	G>E		No	ClinGen gnomAD
CA375728877 rs1167016380	305	A>T		No	ClinGen gnomAD
rs1011680061 CA201746325	306	G>D		No	ClinGen Ensembl
CA5369122 rs767523536	308	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1197361854 CA375728900	308	G>R		No	ClinGen TOPMed
rs1321602131 CA375728914	309	G>D		No	ClinGen gnomAD
rs760491055 CA5369124	310	S>A		No	ClinGen ExAC TOPMed gnomAD
CA201746341 rs958254879	310	S>F		No	ClinGen TOPMed
rs1379466754 CA375728940	311	E>D		No	ClinGen gnomAD
CA5369126 rs752857248	311	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1244525416 CA375728938	311	E>V		No	ClinGen TOPMed
CA375728989 rs1396201628	316	V>D		No	ClinGen TOPMed
rs911193705 CA201746354	316	V>I		No	ClinGen TOPMed
rs564363346 CA5369128	318	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1209333456 CA375729019	319	Q>*		No	ClinGen gnomAD
rs1269772153 CA375729026	319	Q>R		No	ClinGen gnomAD
CA375729049 COSM1107107 rs1186585314	321	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5369130 rs757354813	323	T>A		No	ClinGen ExAC gnomAD
CA201746367 rs779192469	323	T>I		No	ClinGen Ensembl
CA375729073 rs1163024799	324	V>M		No	ClinGen TOPMed
CA375729079 rs1471824130	325	A>T		No	ClinGen TOPMed
rs781625314 CA5369131	326	L>P		No	ClinGen ExAC
rs1403985893 CA375729101	328	A>V		No	ClinGen gnomAD
CA5369132 rs746385829 COSM3413491	329	R>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756433242 CA5369134	329	R>P		No	ClinGen ExAC TOPMed gnomAD
rs756433242 CA5369133	329	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5369135 rs748874066	331	G>E		No	ClinGen ExAC TOPMed gnomAD
CA5369136 rs768399384	332	A>T		No	ClinGen ExAC gnomAD
CA201746400 rs111438897	333	D>G		No	ClinGen Ensembl
CA201746399 rs199722263	333	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199722263 CA5369138	333	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773219456 CA5369140	336	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1308374215 CA375729146	336	S>R		No	ClinGen TOPMed gnomAD
rs1228927547 CA375729161	338	R>Q		No	ClinGen gnomAD
CA201746407 rs941925149	338	R>W		No	ClinGen TOPMed gnomAD
CA375729204 rs1286856031	342	G>C		No	ClinGen TOPMed
CA375729226 rs1321347894	343	Q>H		No	ClinGen TOPMed gnomAD
rs1199614610 CA375729235	344	A>D		No	ClinGen gnomAD
CA375729234 rs1346722120	344	A>S		No	ClinGen TOPMed
rs1443182575 CA375729246	345	L>P		No	ClinGen gnomAD
CA5369142 rs766073676	347	H>P		No	ClinGen ExAC TOPMed gnomAD
rs183058926 CA5369143	351	L>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375730199 rs183058926	351	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs902248000 CA201746423	352	G>R		No	ClinGen TOPMed
rs1332760764 CA375730502	356	Y>*		No	ClinGen TOPMed gnomAD
CA375730504 rs1432554299	357	L>I		No	ClinGen gnomAD
rs201168117 CA5369161	360	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1339014369 CA375730583	360	G>S		No	ClinGen TOPMed
CA375730660 rs1341691645	363	G>R		No	ClinGen gnomAD
CA5369162 rs769587371	364	H>Q		No	ClinGen ExAC gnomAD
rs1385450149 CA375730762	367	P>S		No	ClinGen gnomAD
CA375730790 rs1333283004	368	I>L		No	ClinGen TOPMed
CA375730798 rs1412495670	368	I>M		No	ClinGen TOPMed
CA201746518 rs1015558594	369	P>A		No	ClinGen Ensembl
rs762082525 CA5369164	370	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1209324033 CA375730849	371	E>D		No	ClinGen gnomAD
CA375730848 rs1209324033	371	E>D		No	ClinGen gnomAD
CA201746529 rs973954250	371	E>K		No	ClinGen TOPMed
rs1268600294 CA375730855	372	E>*		No	ClinGen gnomAD
rs1453858078 CA375730857	372	E>A		No	ClinGen gnomAD
CA375730851 rs1268600294	372	E>K		No	ClinGen gnomAD
rs953881310 CA201746536	373	S>L		No	ClinGen TOPMed gnomAD
CA5369167 rs760705134	376	R>T		No	ClinGen ExAC gnomAD
rs200793364 CA375730959	378	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA5369168 rs200793364	378	W>S		No	ClinGen 1000Genomes ExAC gnomAD
CA375731025 rs373162015	380	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1439885927 CA375731019	380	D>G		No	ClinGen TOPMed
rs780618967 CA201746562	381	A>V		No	ClinGen Ensembl
CA375731046 rs1340218294	382	A>V		No	ClinGen TOPMed
rs1053038743 CA201746565	383	A>S		No	ClinGen gnomAD
CA5369170 rs536465376	384	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs949346640 CA201746569	385	P>R		No	ClinGen TOPMed gnomAD
CA375731108 rs1455616904	385	P>S		No	ClinGen gnomAD
rs1046019085 CA201746572	386	R>W		No	ClinGen TOPMed
rs555391705 CA201746582	387	G>E		No	ClinGen 1000Genomes gnomAD
CA201746589 rs935063126	388	L>M		No	ClinGen TOPMed
CA201746593 rs1053505661	388	L>R		No	ClinGen TOPMed
CA201746597 rs913200856	393	R>S		No	ClinGen TOPMed gnomAD
rs1429031654 CA375731271	393	R>T		No	ClinGen TOPMed
CA375731447 rs1377503713	397	G>C		No	ClinGen gnomAD
rs1408011756 CA375731454	397	G>D		No	ClinGen gnomAD
rs189599937 CA5369192	398	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200100435 CA375731468	398	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5369194 rs200100435	398	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5369193 rs189599937	398	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375731489 rs1312049956	399	P>L		No	ClinGen gnomAD
rs756717262 COSM1217651 CA5369195	399	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA375731519 rs867809764	401	L>F		No	ClinGen gnomAD
CA201746718 rs867809764	401	L>I		No	ClinGen gnomAD
CA375731514 rs867809764	401	L>V		No	ClinGen gnomAD
CA375731565 rs745798842	403	Q>*		No	ClinGen ExAC gnomAD
CA5369197 rs745798842	403	Q>E		No	ClinGen ExAC gnomAD
CA375731598 rs1481561941	404	V>E		No	ClinGen gnomAD
CA375731639 rs1424199199	406	A>V		No	ClinGen TOPMed gnomAD
rs1588472640 CA375731645	407	Q>*		No	ClinGen Ensembl
rs1433483273 CA375731748	410	Y>*		No	ClinGen gnomAD
rs749037318 CA5369200	412	A>S		No	ClinGen ExAC TOPMed gnomAD
rs749037318 CA375731782	412	A>T		No	ClinGen ExAC TOPMed gnomAD
CA375731798 rs1431887827	412	A>V		No	ClinGen TOPMed
rs1207939643 CA375731831	414	G>R		No	ClinGen gnomAD
rs773417587 CA5369202	415	P>S		No	ClinGen ExAC gnomAD
rs1367536752 CA375731965	419	G>D		No	ClinGen TOPMed gnomAD
rs113228211 CA5369204	421	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5369205 rs776622288	421	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1463427807 CA375732039	422	Q>R		No	ClinGen TOPMed
rs1245992944 CA375732076	423	G>A		No	ClinGen gnomAD
rs1245992944 CA375732075	423	G>E		No	ClinGen gnomAD
CA201746761 rs1005519069	424	D>N		No	ClinGen TOPMed gnomAD
CA375732087 rs1005519069	424	D>Y		No	ClinGen TOPMed gnomAD
CA5369208 rs765798893	425	T>M		No	ClinGen ExAC TOPMed gnomAD
CA375732160 rs1447876988	427	D>G		No	ClinGen gnomAD
rs764367566 CA5369211	428	V>I		No	ClinGen ExAC TOPMed gnomAD
CA201746782 rs1013448693	430	C>*		No	ClinGen TOPMed
rs756911176 CA5369213	431	E>G		No	ClinGen ExAC gnomAD
rs1190167946 CA375732568	432	V>A		No	ClinGen gnomAD
CA375732260 rs1462466738	432	V>M		No	ClinGen gnomAD
rs927570964 CA201746895	435	A>T		No	ClinGen Ensembl
CA5369241 rs781503334	438	E>*		No	ClinGen ExAC TOPMed gnomAD
CA5369242 rs746091899	438	E>G		No	ClinGen ExAC gnomAD
CA5369243 rs151013088	439	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5369244 rs780338253	440	H>Y		No	ClinGen ExAC gnomAD
rs769005094 CA5369246	441	C>R		No	ClinGen ExAC TOPMed gnomAD
CA5369247 rs774946221	441	C>S		No	ClinGen ExAC TOPMed gnomAD
CA375732823 rs375163287	442	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs772494232 CA5369249	443	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5369251 rs760381759	444	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5369252 rs141159188	444	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5369253 rs141159188	444	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369853604 CA375732924	445	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5369254 rs759114954	445	I>V		No	ClinGen ExAC gnomAD
CA201746931 rs868066200	446	G>D		No	ClinGen Ensembl
rs752690072 CA5369256	446	G>S		No	ClinGen ExAC gnomAD
rs758061575 CA5369257	447	I>M		No	ClinGen ExAC gnomAD
CA5369258 rs777776477	448	F>S		No	ClinGen ExAC gnomAD
CA5369259 rs750659193 COSM3788225	449	P>R	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs780456994 CA5369262	450	K>M		No	ClinGen ExAC TOPMed gnomAD
CA375733034 rs1395273539	450	K>N		No	ClinGen gnomAD
rs780456994 CA5369261	450	K>R		No	ClinGen ExAC TOPMed gnomAD
rs371932076 CA5369266	453	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371932076 CA5369265	453	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs746635584 CA5369268	455	P>A		No	ClinGen ExAC TOPMed gnomAD
rs199687966 CA5369270	456	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5369271 rs199687966	456	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5369272 rs764804843	456	A>V		No	ClinGen ExAC gnomAD
CA375733216 rs1236827414	457	G>D		No	ClinGen gnomAD
CA5369274 rs144777481	457	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5369275 rs763957910	458	P>R		No	ClinGen ExAC TOPMed gnomAD
CA375733231 rs1357700163	458	P>S		No	ClinGen gnomAD
CA201747015 rs112103208	459	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375733249 rs1196472760	459	R>Q		No	ClinGen TOPMed gnomAD
CA5369276 rs112103208	459	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757142951 CA5369277	462	G>R		No	ClinGen ExAC gnomAD
rs1198560728 CA375733298	463	A>P		No	ClinGen gnomAD
rs766651736 CA5369278	463	A>V		No	ClinGen ExAC gnomAD
CA375733317 rs1389171749	464	P>R		No	ClinGen gnomAD
rs1186358667 CA375733311	464	P>S		No	ClinGen gnomAD
CA5369280 rs755011988	465	G>S		No	ClinGen ExAC TOPMed gnomAD
rs779111369 CA5369281	466	R>C		No	ClinGen ExAC TOPMed gnomAD
rs76775006 CA5369282	466	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5369284 rs778280811	469	R>*		No	ClinGen ExAC TOPMed gnomAD
rs200624255 CA5369285	469	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5369286 rs771295621	470	S>F		No	ClinGen ExAC gnomAD
CA5369287 rs138695705	471	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5369288 rs745600631	472	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA5369289 rs769172707	473	G>E		No	ClinGen ExAC TOPMed gnomAD
CA5369290 rs775113816	474	D>H		No	ClinGen ExAC TOPMed gnomAD
CA375733475 rs775113816	474	D>N		No	ClinGen ExAC TOPMed gnomAD
CA201747077 rs978781668	475	Q>R		No	ClinGen Ensembl
rs1213687205 CA375733505	476	P>S		No	ClinGen gnomAD

No associated diseases with Q86UR1

3 regional properties for Q86UR1

Type	Name	Position	InterPro Accession
domain	IPT domain	574 - 673	IPR002909
domain	Rel homology domain, DNA-binding domain	389 - 571	IPR011539
domain	Rel homology dimerisation domain	577 - 675	IPR032397

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell membrane	Translocation to membranes depends on NOXO1 or NCF1 and maybe RAC1
PANTHER Family	PTHR15175	NEUTROPHIL CYTOSOLIC FACTOR 2, NEUTROPHIL NADPH OXIDASE FACTOR 2
PANTHER Subfamily	PTHR15175:SF4	NADPH OXIDASE ACTIVATOR 1
PANTHER Protein Class	protein-binding activity modulator
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
NADPH oxidase complex	A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2.

5 GO annotations of molecular function

Name	Definition
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
identical protein binding	Binding to an identical protein or proteins.
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.
small GTPase binding	Binding to a small monomeric GTPase.
superoxide-generating NADPH oxidase activator activity	Increases the activity of the enzyme superoxide-generating NADPH oxidase.

4 GO annotations of biological process

Name	Definition
regulation of hydrogen peroxide metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving hydrogen peroxide.
regulation of respiratory burst	Any process that modulates the rate frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals.
superoxide anion generation	The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways.
superoxide metabolic process	The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O77775	NCF2	Neutrophil cytosol factor 2	Bos taurus (Bovine)	PR
Q5HYK7	SH3D19	SH3 domain-containing protein 19	Homo sapiens (Human)	PR
Q6XZF7	DNMBP	Dynamin-binding protein	Homo sapiens (Human)	PR
P19878	NCF2	Neutrophil cytosol factor 2	Homo sapiens (Human)	PR
O70145	Ncf2	Neutrophil cytosol factor 2	Mus musculus (Mouse)	PR
Q8CJ00	Noxa1	NADPH oxidase activator 1	Mus musculus (Mouse)	SS
A7E3N2	Ncf2	Neutrophil cytosol factor 2	Rattus norvegicus (Rat)	PR
A7E3N7	Noxa1	NADPH oxidase activator 1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MASLGDLVRA	WHLGAQAVDR	GDWARALHLF	SGVPAPPARL	CFNAGCVHLL	AGDPEAALRA
70	80	90	100	110	120
FDQAVTKDTC	MAVGFFQRGV	ANFQLARFQE	ALSDFWLALE	QLRGHAAIDY	TQLGLRFKLQ
130	140	150	160	170	180
AWEVLHNVAS	AQCQLGLWTE	AASSLREAMS	KWPEGSLNGL	DSALDQVQRR	GSLPPRQVPR
190	200	210	220	230	240
GEVFRPHRWH	LKHLEPVDFL	GKAKVVASAI	PDDQGWGVRP	QQPQGPGANH	DARSLIMDSP
250	260	270	280	290	300
RAGTHQGPLD	AETEVGADRC	TSTAYQEQRP	QVEQVGKQAP	LSPGLPAMGG	PGPGPCEDPA
310	320	330	340	350	360
GAGGAGAGGS	EPLVTVTVQC	AFTVALRARR	GADLSSLRAL	LGQALPHQAQ	LGQLSYLAPG
370	380	390	400	410	420
EDGHWVPIPE	EESLQRAWQD	AAACPRGLQL	QCRGAGGRPV	LYQVVAQHSY	SAQGPEDLGF
430	440	450	460	470
RQGDTVDVLC	EVDQAWLEGH	CDGRIGIFPK	CFVVPAGPRM	SGAPGRLPRS	QQGDQP