AiPD: Autoinhibited Protein Database

P14598

Gene name	NCF1 (NOXO2, SH3PXD1A)
Protein name	Neutrophil cytosol factor 1
Names	NCF-1, 47 kDa autosomal chronic granulomatous disease protein, 47 kDa neutrophil oxidase factor, NCF-47K, Neutrophil NADPH oxidase factor 1, Nox organizer 2, Nox-organizing protein 2, SH3 and PX domain-containing protein 1A, p47-phox
Species	Homo sapiens (Human)
KEGG Pathway	hsa:653361
EC number
Protein Class	SH3 MULTIPLE DOMAIN (PTHR15706)

Descriptions

Phagocyte NADPH oxidase is a multisubunit enzyme responsible for the production of reactive oxygen species. NCF1 (p47phox) is a cytosolic component of the NADPH oxidase and plays an important role in the assembly of the activated complex. NCF1 is composed of several domains including a PX domain, tandem SH3 domains (N-SH3 and C-SH3), a polybasic/autoinhibitory region (PBR/AIR), and a proline-rich region (PRR). In an inactive state, the binding surface of the tandem SH3 domains for the binding to the PRR region of p22phox (CYBA) is masked through the intramolecular interaction with PBR/AIR. Phosphorylations of the Ser residues in PBR/AIR by PKC or Akt cause a conformational change in NCF1 and activation of the NADPH oxidase.

Autoinhibitory domains (AIDs)

Target domain	159-212 (N-SH3); 229-282 (C-SH3)
Relief mechanism	PTM
Assay	Structural analysis

AID

287-329 (Polybasic and autoinhibitory region)

Target domain

159-212 (N-SH3); 229-282 (C-SH3)

Relief mechanism

PTM (Phosphorylation of the Ser residues in PBR/AIR by PKC or Akt)

Assay

Structural analysis

Accessory elements

No accessory elements

References

Yuzawa S et al. (2004) "A molecular mechanism for autoinhibition of the tandem SH3 domains of p47phox, the regulatory subunit of the phagocyte NADPH oxidase", Genes to cells : devoted to molecular & cellular mechanisms, 9, 443-56

Yuzawa S et al. (2003) "Crystallization and preliminary crystallographic analysis of the autoinhibited form of the tandem SH3 domain of p47(phox)", Acta crystallographica. Section D, Biological crystallography, 59, 1479-80

Autoinhibited structure

Activated structure

12 structures for P14598

Entry ID	Method	Resolution	Chain	Position	Source
1GD5	NMR	-	A	1-128	PDB
1K4U	NMR	-	P	359-390	PDB
1KQ6	X-ray	118 A	A	1-141	PDB
1NG2	X-ray	170 A	A	156-340	PDB
1O7K	X-ray	200 A	A/B/C	1-123	PDB
1OV3	X-ray	180 A	A/B	156-285	PDB
1UEC	X-ray	182 A	A	151-340	PDB
1W70	X-ray	146 A	C/D	360-372	PDB
1WLP	NMR	-	B	151-286	PDB
7YXW	X-ray	250 A	A	156-285	PDB
8WEJ	EM	279 A	C	1-286	PDB
AF-P14598-F1	Predicted				AlphaFoldDB

283 variants for P14598

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001090891 rs4029402 RCV000002337	26	Y>missing	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001557272 VAR_012476 RCV000002339 rs119103270 CA115440	42	R>Q	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 CGD1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV000788442 CA4298023 RCV001283823 rs782800778	42	R>W	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA115442 rs119103271 RCV000002341	91	Q>*	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA115444 rs119103272 RCV000002342	111	C>*	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000002338 rs1563003964	168	E>missing	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [ClinVar]	Yes	ClinVar dbSNP
CA115446 rs119103273 RCV000002343	192	G>S	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000763595 RCV000991165 rs145360423 CA4298223 RCV000489061 RCV000761449	193	W>*	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 Chronic granulomatous disease due to deficiency of NCF-1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1307080411 RCV000002340	271	V>missing	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [ClinVar]	Yes	ClinVar dbSNP
CA4298248 VAR_012480 RCV001267775 rs13739	308	A>V	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1554412875 CA367955015	7	R>H		No	ClinGen Ensembl
CA367950379 rs1554413122	25	V>A		No	ClinGen gnomAD
CA4298013 rs782272331	25	V>L		No	ClinGen ExAC gnomAD
CA4298016 rs782052125	27	M>T		No	ClinGen ExAC TOPMed gnomAD
rs782039216 CA4298015	27	M>V		No	ClinGen ExAC gnomAD
rs1554413126 CA367950432	29	L>V		No	ClinGen gnomAD
CA4298018 rs781959708	34	D>G		No	ClinGen ExAC gnomAD
rs1554413130 CA367950533	36	S>*		No	ClinGen gnomAD
rs1554413130 COSM1452048 CA367950536	36	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA367950547 rs1584369063	37	E>G		No	ClinGen Ensembl
rs1584369077 CA367950578	39	V>G		No	ClinGen Ensembl
rs782544408 CA367950572	39	V>L		No	ClinGen ExAC gnomAD
CA4298022 rs782544408	39	V>M		No	ClinGen ExAC gnomAD
rs1584369082 CA367950588	40	V>G		No	ClinGen Ensembl
CA367950597 rs1554413137	41	Y>S		No	ClinGen gnomAD
CA4298024 rs781786929	43	R>C		No	ClinGen ExAC gnomAD
rs1554413140 CA367950618	43	R>H		No	ClinGen gnomAD
rs1181241617 CA367950645	45	T>S		No	ClinGen TOPMed
rs1252865340 CA367950663	46	E>D		No	ClinGen TOPMed gnomAD
rs1554413145 CA367950650	46	E>K		No	ClinGen gnomAD
rs368948045 CA367950686 COSM485557	48	Y>C	kidney [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA160163452 rs368948045	48	Y>F		No	ClinGen ESP TOPMed gnomAD
rs782495977 CA4298028	51	H>P		No	ClinGen ExAC TOPMed gnomAD
CA4298027 rs781835731	51	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1235799901 CA367950834	53	T>I		No	ClinGen TOPMed
rs1197399867 CA367950838	54	L>V		No	ClinGen TOPMed
rs1554413392 CA367950859	55	K>R		No	ClinGen gnomAD
CA367950884 rs1451704941	56	E>D		No	ClinGen TOPMed gnomAD
rs587716514 CA4298050	58	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367950940 rs1207998330	60	I>T		No	ClinGen TOPMed gnomAD
rs1554413398 CA367950946	61	E>K		No	ClinGen gnomAD
rs886041799 RCV000366139	63	G>missing		No	ClinVar dbSNP
CA367950979 rs1242540658	63	G>V		No	ClinGen TOPMed
rs1375017077 CA367950994	64	A>V		No	ClinGen TOPMed gnomAD
CA367951014 rs1554413401	66	N>D		No	ClinGen gnomAD
CA367951018 rs1437235552	66	N>S		No	ClinGen TOPMed gnomAD
rs1351691379 CA367951035	67	P>L		No	ClinGen TOPMed gnomAD
CA367951039 rs1554413404	68	E>Q		No	ClinGen gnomAD
CA4298053 rs782395518	70	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1584370363 CA367951128	74	H>P		No	ClinGen Ensembl
rs1421120991 CA367951136	74	H>Q		No	ClinGen TOPMed gnomAD
rs1160867604 CA367951126	74	H>Y		No	ClinGen TOPMed
rs1177627204 CA367951162	77	A>P		No	ClinGen TOPMed gnomAD
rs782619739 CA4298075	79	K>R		No	ClinGen ExAC TOPMed gnomAD
CA367951259 rs1554413447	80	W>C		No	ClinGen gnomAD
CA367951252 rs1554413446	80	W>S		No	ClinGen gnomAD
CA4298076 rs782234231	81	F>S		No	ClinGen ExAC gnomAD
rs139225348 CA4298078	83	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4298079 rs782183721	84	Q>*		No	ClinGen ExAC gnomAD
rs782183721 CA367951319	84	Q>E		No	ClinGen ExAC gnomAD
CA4298081 rs373093123	85	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1258803 CA4298080 rs782331439	85	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA367951345 rs1584370572	86	A>P		No	ClinGen Ensembl
rs782002877 CA4298084	87	A>T		No	ClinGen ExAC gnomAD
CA4298087 rs781789430	88	E>K		No	ClinGen ExAC TOPMed gnomAD
rs782453617 CA4298088	89	N>D		No	ClinGen ExAC gnomAD
CA367951410 rs1448269032	90	R>C		No	ClinGen TOPMed gnomAD
VAR_014735 rs13447	90	R>H	may influence susceptibility to systemic lupus erythematosus [UniProt]	No	UniProt dbSNP
CA4298090 rs201802880	90	R>H		No	ClinGen ExAC TOPMed gnomAD
rs119103271 CA367951419	91	Q>E		No	ClinGen TOPMed
CA367951436 rs1554413462	92	G>D		No	ClinGen gnomAD
rs1554413460 CA367951435	92	G>S		No	ClinGen gnomAD
rs1554413463 CA367951440	93	T>P		No	ClinGen gnomAD
rs1563002882 CA367951458	96	E>K		No	ClinGen Ensembl
rs1584370623 RCV000788640	97	Y>missing		No	ClinVar dbSNP
CA4298093 rs144018361	98	C>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs10614 RCV000454377	99	S>=		No	ClinVar dbSNP
rs10614 CA367951489 VAR_018479	99	S>G		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA4298097 rs782364575	99	S>N		No	ClinGen ExAC gnomAD
rs10614 CA4298096	99	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146125534 COSM1488678 CA4298098	100	T>M	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs782419776 CA367951516	101	L>F		No	ClinGen ExAC TOPMed gnomAD
rs782419776 CA4298100	101	L>I		No	ClinGen ExAC TOPMed gnomAD
rs374384176 CA4298102	102	M>I		No	ClinGen ESP ExAC gnomAD
rs1260148269 CA367951526	102	M>V		No	ClinGen TOPMed gnomAD
CA367951553 rs1554413479	103	S>R		No	ClinGen gnomAD
CA367951555 rs1554413479	103	S>R		No	ClinGen gnomAD
CA4298103 rs782705862	106	T>A		No	ClinGen ExAC TOPMed gnomAD
rs781953146 CA4298104	106	T>I		No	ClinGen ExAC TOPMed gnomAD
CA367951604 rs1554413482	107	K>N		No	ClinGen gnomAD
CA367951617 rs1554413484	108	I>T		No	ClinGen gnomAD
CA367951630 rs1230347162	109	S>A		No	ClinGen TOPMed
CA4298106 rs148767467	110	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373132324 CA4298107	110	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373132324 CA367951646	110	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367951641 rs148767467	110	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA367951666 rs1554413494	112	P>S		No	ClinGen gnomAD
rs782485806 CA4298111	113	H>N		No	ClinGen ExAC gnomAD
rs782485806 CA4298110	113	H>Y		No	ClinGen ExAC gnomAD
rs781862114 CA4298112	114	L>F		No	ClinGen ExAC gnomAD
CA4298116 rs376454321	116	D>G		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1463982454 CA4298114	116	D>N		No	ClinGen TOPMed gnomAD
CA4298118 rs782306577	117	F>S		No	ClinGen ExAC TOPMed gnomAD
rs782593576 CA4298119	119	K>Q		No	ClinGen ExAC gnomAD
rs1183217294 CA367951784 COSM195953	121	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA4298120 rs782205505	121	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4298121 rs782205505	121	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1183217294 CA367951781	121	R>S		No	ClinGen TOPMed gnomAD
CA4298122 rs781983704	123	D>H		No	ClinGen ExAC gnomAD
CA4298123 rs782128694	126	K>R		No	ClinGen ExAC gnomAD
CA367951864 rs1196769912	127	L>P		No	ClinGen TOPMed gnomAD
rs1584370792 CA367951880	128	P>L		No	ClinGen Ensembl
CA367951874 rs1554413509	128	P>S		No	ClinGen gnomAD
CA4298125 rs782029909	129	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1554413512 CA367951926	131	N>K		No	ClinGen gnomAD
rs1554413636 CA367952049	137	E>D		No	ClinGen gnomAD
CA367952129 rs1554413638	144	D>E		No	ClinGen gnomAD
rs1584371214 CA367952159	147	S>R		No	ClinGen Ensembl
CA367952175 rs1554413639	149	A>T		No	ClinGen gnomAD
CA367952181 rs1554413640	149	A>V		No	ClinGen gnomAD
rs1554413946 CA367952309	152	I>V		No	ClinGen gnomAD
rs1584372840 CA367952322	153	T>P		No	ClinGen Ensembl
rs1554413949 CA367952339	154	G>C		No	ClinGen gnomAD
CA367952342 rs1554413950	154	G>D		No	ClinGen gnomAD
CA367952336 rs1554413949	154	G>S		No	ClinGen gnomAD
rs1479679355 CA367952364	156	I>N		No	ClinGen TOPMed gnomAD
rs1479679355 CA367952366	156	I>T		No	ClinGen TOPMed gnomAD
CA367952398 rs1584372852	157	I>T		No	ClinGen Ensembl
rs1584372858 CA367952412	158	L>R		No	ClinGen Ensembl
rs2523331 CA367952439	160	T>M		No	ClinGen TOPMed gnomAD
rs2523331 CA367952436	160	T>R		No	ClinGen TOPMed gnomAD
CA4298149 rs782730949	162	R>C		No	ClinGen ExAC gnomAD
CA4298150 rs201522178	162	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201522178 CA367952470	162	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782787740 CA4298152	163	A>G		No	ClinGen ExAC gnomAD
CA4298151 rs367985113 COSM1091689	163	A>T	endometrium breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs202195500 CA367952515	165	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs202195500 CA4298153	165	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs782555266 VAR_012478 CA4298154	166	N>D		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs782563385 CA4298155	166	N>K		No	ClinGen ExAC gnomAD
CA4298156 rs782223424	167	Y>H		No	ClinGen ExAC
CA4298158 rs142480486	168	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367952587 rs1383056416	169	K>E		No	ClinGen TOPMed
rs1584372919 CA367952613	170	T>A		No	ClinGen Ensembl
CA367952619 rs1554413971	170	T>N		No	ClinGen gnomAD
CA4298161 rs782037135	171	S>L		No	ClinGen ExAC TOPMed gnomAD
CA4298165 rs782100556	174	E>K		No	ClinGen ExAC gnomAD
CA4298166 rs782759739	176	A>S		No	ClinGen ExAC gnomAD
CA4298169 rs782794889	179	T>M		No	ClinGen ExAC TOPMed gnomAD
CA367952818 rs1428805428	180	G>E		No	ClinGen TOPMed
CA4298174 rs782526868	182	V>M		No	ClinGen ExAC TOPMed gnomAD
rs372176579 CA4298176	184	E>K		No	ClinGen ESP ExAC gnomAD
CA4298177 rs782450062	185	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1342608126 CA367952926	186	V>I		No	ClinGen TOPMed gnomAD
CA4298179 rs782208737	190	E>K		No	ClinGen ExAC gnomAD
CA367953030 rs782208737	190	E>Q		No	ClinGen ExAC gnomAD
rs1295715643 CA367953049	191	S>C		No	ClinGen TOPMed
rs1434402193 CA367953051	191	S>N		No	ClinGen TOPMed gnomAD
CA367953158 rs1339430838	193	W>L		No	ClinGen TOPMed
rs781959928 CA4298225	194	W>*		No	ClinGen ExAC gnomAD
CA367953183 rs1246085820	194	W>C		No	ClinGen TOPMed
CA4298224 rs781959928	194	W>L		No	ClinGen ExAC gnomAD
rs1381209868 CA367953223	197	Q>E		No	ClinGen TOPMed
CA4298226 rs782366860	197	Q>H		No	ClinGen ExAC gnomAD
rs587693328 CA4298227	199	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA367953281 rs1554414119	200	A>V		No	ClinGen gnomAD
CA367953302 rs1282380585	201	K>N		No	ClinGen TOPMed gnomAD
CA367953307 rs1446986189	202	R>*		No	ClinGen TOPMed gnomAD
rs782142500 CA4298228	202	R>L		No	ClinGen ExAC TOPMed gnomAD
rs782142500 CA4298229	202	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1428122029 CA367953319	203	G>C		No	ClinGen TOPMed gnomAD
rs1428122029 CA367953315	203	G>S		No	ClinGen TOPMed gnomAD
rs1370198642 CA367953360	205	I>M		No	ClinGen TOPMed
rs1554414123 CA367953373	206	P>L		No	ClinGen gnomAD
rs372741570 CA160164994	207	A>T		No	ClinGen ESP TOPMed
CA367953398 rs1412197805	208	S>C		No	ClinGen TOPMed
CA367953422 rs1181831561	210	L>F		No	ClinGen TOPMed
CA367953434 rs1254491876	211	E>K		No	ClinGen TOPMed gnomAD
rs587755234 CA4298231	212	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA367953476 rs1203472385	215	S>I		No	ClinGen TOPMed
rs1554414128 CA367953477	215	S>R		No	ClinGen gnomAD
CA367953479 COSM1292545 rs1481833674	216	P>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
rs376919169 CA4298233	217	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs149204001 CA160165008 COSM108179	218	E>K	autonomic_ganglia skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs147659773 CA4298234	219	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4298237 rs782434810	221	D>A		No	ClinGen ExAC gnomAD
rs781909474 CA4298236	221	D>N		No	ClinGen ExAC gnomAD
rs782586627 CA4298238	223	E>A		No	ClinGen ExAC TOPMed gnomAD
CA367953582 rs1289916872	223	E>D		No	ClinGen TOPMed gnomAD
rs1554414139 CA367953605	225	N>T		No	ClinGen gnomAD
CA367953628 rs1407770450	227	A>E		No	ClinGen TOPMed
CA367953719 rs1323393721	230	P>S		No	ClinGen TOPMed gnomAD
rs1554414390 CA367953733	231	Y>H		No	ClinGen gnomAD
rs1232426912 CA367953747	232	V>I		No	ClinGen TOPMed gnomAD
rs1290436892 CA367953759	233	A>T		No	ClinGen TOPMed gnomAD
rs1408294532 CA367953783	235	K>E		No	ClinGen TOPMed gnomAD
CA367953819 rs1554414397	237	Y>C		No	ClinGen gnomAD
rs1554414400 CA367953837	240	V>M		No	ClinGen gnomAD
rs1372886255 CA367953850	241	E>D		No	ClinGen TOPMed
rs1294120336 CA367953876	244	E>K		No	ClinGen TOPMed
rs1348625833 CA367953931	248	L>I		No	ClinGen TOPMed gnomAD
CA367953940 rs1458092588	249	E>K		No	ClinGen TOPMed gnomAD
rs1414728023 CA367953956	250	G>D		No	ClinGen TOPMed
CA367954068 rs1406839457	258	K>N		No	ClinGen TOPMed
VAR_012479 rs1489201208 CA367954094	262	G>S		No	ClinGen UniProt TOPMed dbSNP gnomAD
rs1213061734 CA367954124	264	W>C		No	ClinGen TOPMed gnomAD
CA367954111 rs1584374684	264	W>G		No	ClinGen Ensembl
CA160165429 rs587685954	269	D>N		No	ClinGen 1000Genomes TOPMed gnomAD
CA367954448 rs1445751079	273	G>D		No	ClinGen TOPMed
CA367954456 rs1371383730	274	Y>N		No	ClinGen TOPMed
CA367954559 rs1390321777	279	Y>C		No	ClinGen TOPMed
rs1385268884 CA367954552	279	Y>H		No	ClinGen TOPMed
CA367954737 rs1554414797	292	R>S		No	ClinGen gnomAD
rs782313991 CA367954944	302	R>S		No	ClinGen ExAC TOPMed gnomAD
rs782313991 CA4298246	302	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1214478546 CA367954965	303	S>L		No	ClinGen TOPMed
CA4298247 rs781945357	307	N>K		No	ClinGen ExAC gnomAD
rs1554414881 CA367955060	308	A>T		No	ClinGen gnomAD
CA367955098 rs1287754721	309	H>Q		No	ClinGen TOPMed gnomAD
rs782786186 CA4298249	310	S>G		No	ClinGen ExAC gnomAD
rs1554414889 CA367955120	310	S>N		No	ClinGen gnomAD
CA367955201 rs1554414894	313	Q>*		No	ClinGen gnomAD
rs1351990747 CA367955206	313	Q>P		No	ClinGen TOPMed gnomAD
rs1554414898 CA367955237	314	R>Q		No	ClinGen gnomAD
rs1554414900 CA367955260	315	S>W		No	ClinGen gnomAD
CA367955299 rs587641296	317	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs587641296 CA4298252	317	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367955309 rs1554414903	318	R>C		No	ClinGen gnomAD
CA367955318 rs1376551878	318	R>L		No	ClinGen TOPMed gnomAD
CA367955347 rs1554414908	320	S>N		No	ClinGen gnomAD
CA367955351 rs1436704498	320	S>R		No	ClinGen TOPMed gnomAD
CA367955370 rs1554414913	323	A>S		No	ClinGen gnomAD
CA367955371 rs1351282092	323	A>V		No	ClinGen TOPMed
rs1320991363 CA367955382	325	R>S		No	ClinGen TOPMed
rs1554414920 CA367955410	329	V>I		No	ClinGen gnomAD
CA367955416 rs1404312475	330	R>C		No	ClinGen TOPMed gnomAD
CA367955418 rs1404312475	330	R>G		No	ClinGen TOPMed gnomAD
rs1380824375 CA367955423	330	R>H		No	ClinGen TOPMed gnomAD
CA4298254 rs782481752	333	Q>E		No	ClinGen ExAC gnomAD
rs1554414931 CA367955488	335	R>*		No	ClinGen gnomAD
rs587725433 CA4298255	336	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs781857646 CA4298256	337	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1437749725 CA367955528	338	Q>E		No	ClinGen TOPMed gnomAD
rs1379411670 CA367955543	339	A>T		No	ClinGen TOPMed gnomAD
rs1554414935 CA367955566	340	R>L		No	ClinGen gnomAD
rs1489575019 CA367955589	342	G>E		No	ClinGen TOPMed gnomAD
CA4298258 rs782662118	342	G>R		No	ClinGen ExAC gnomAD
rs1554414938 CA367955605	343	P>L		No	ClinGen gnomAD
CA367955612 rs1554414940	344	Q>*		No	ClinGen Ensembl
rs1554414941 CA367955624	344	Q>H		No	ClinGen gnomAD
rs1245241315 CA367955664	347	G>E		No	ClinGen TOPMed
CA367955662 rs782430982	347	G>R		No	ClinGen ExAC gnomAD
rs782430982 CA4298260	347	G>W		No	ClinGen ExAC gnomAD
rs782200934 CA4298262	349	P>A		No	ClinGen ExAC TOPMed gnomAD
rs587631811 CA367955700	349	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4298263 rs587631811	349	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367955697 rs587631811	349	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367955712 rs1238530403	350	L>P		No	ClinGen TOPMed gnomAD
rs1238530403 CA367955714	350	L>R		No	ClinGen TOPMed gnomAD
rs782284699 CA4298265	351	E>K		No	ClinGen ExAC TOPMed gnomAD
CA367955721 rs782284699	351	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1238112378 CA367955793	352	E>G		No	ClinGen TOPMed gnomAD
rs1584377118 CA367955778	352	E>K		No	ClinGen Ensembl
rs1331895809 CA367955829	354	R>L		No	ClinGen TOPMed gnomAD
rs1331895809 CA367955826	354	R>Q		No	ClinGen TOPMed gnomAD
rs1554415051 CA367955823	354	R>W		No	ClinGen gnomAD
rs1303750209 CA367955854	356	T>K		No	ClinGen TOPMed
rs1364968521 CA367955871	357	Q>H		No	ClinGen TOPMed gnomAD
rs1385322915 CA367955865	357	Q>R		No	ClinGen TOPMed
CA367955895 rs1554415054	359	S>C		No	ClinGen gnomAD
CA367955899 rs1359242564	360	K>Q		No	ClinGen TOPMed gnomAD
CA367955951 rs1478600725	363	P>A		No	ClinGen TOPMed
CA367955955 rs1200463777	363	P>R		No	ClinGen TOPMed
CA367955953 rs1478600725	363	P>S		No	ClinGen TOPMed
rs1554415058 CA367955971	364	A>V		No	ClinGen gnomAD
rs1489212065 CA367955993	366	P>H		No	ClinGen TOPMed
CA367956000 rs1283878907	367	P>Q		No	ClinGen TOPMed gnomAD
CA367956001 rs1283878907	367	P>R		No	ClinGen TOPMed gnomAD
CA367956018 rs1554415067	370	S>T		No	ClinGen gnomAD
rs1584377172 CA367956032	372	D>G		No	ClinGen Ensembl
CA367956064 rs1257547300	377	R>C		No	ClinGen TOPMed
rs1231288085 CA367956132	387	A>T		No	ClinGen TOPMed
CA367956152 rs1554415070	390	V>F		No	ClinGen gnomAD

1 associated diseases with P14598

[MIM: 233700]: Granulomatous disease, chronic, autosomal recessive, 1 (CGD1)

A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. {ECO:0000269|PubMed:11133775, ECO:0000269|PubMed:23910690}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. {ECO:0000269|PubMed:11133775, ECO:0000269|PubMed:23910690}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for P14598

Type	Name	Position	InterPro Accession
binding_site	IQ motif, EF-hand binding site	786 - 808	IPR000048
domain	Myosin head, motor domain	80 - 785	IPR001609
domain	Myosin tail	852 - 1929	IPR002928
domain	Myosin, N-terminal, SH3-like	33 - 82	IPR004009

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol Membrane ; Peripheral membrane protein ; Cytoplasmic side
PANTHER Family	PTHR15706	SH3 MULTIPLE DOMAIN
PANTHER Subfamily	PTHR15706:SF6	NEUTROPHIL CYTOSOL FACTOR 1-RELATED
PANTHER Protein Class	scaffold/adaptor protein
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
extrinsic component of membrane	The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
phagolysosome	A membrane-bounded intracellular vesicle formed by maturation of an early phagosome following the ingestion of particulate material by phagocytosis; during maturation, phagosomes acquire markers of late endosomes and lysosomes.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
rough endoplasmic reticulum	The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae.

6 GO annotations of molecular function

Name	Definition
electron transfer activity	Any molecular entity that serves as an electron acceptor and electron donor in an electron transport chain. An electron transport chain is a process in which a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient.
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
phosphatidylinositol-3,4-bisphosphate binding	Binding to phosphatidylinositol-3,4-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' and 4' positions.
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.
superoxide-generating NAD(P)H oxidase activity	Catalysis of the reaction: NAD(P)H + O2 = NAD(P)H + O2-.
superoxide-generating NADPH oxidase activator activity	Increases the activity of the enzyme superoxide-generating NADPH oxidase.

16 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cellular defense response	A defense response that is mediated by cells.
cellular response to cadmium ion	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cadmium (Cd) ion stimulus.
cellular response to reactive oxygen species	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reactive oxygen species stimulus. Reactive oxygen species include singlet oxygen, superoxide, and oxygen free radicals.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
positive regulation of epidermal growth factor-activated receptor activity	Any process that activates or increases the frequency, rate or extent of EGF-activated receptor activity.
positive regulation of JNK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of p38MAPK cascade	Any process that activates or increases the frequency, rate or extent of p38MAPK cascade.
positive regulation of phosphatidylinositol 3-kinase signaling	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
protein targeting to membrane	The process of directing proteins towards a membrane, usually using signals contained within the protein.
reactive oxygen species biosynthetic process	The chemical reactions and pathways resulting in the formation of reactive oxygen species, any molecules or ions formed by the incomplete one-electron reduction of oxygen.
regulation of respiratory burst involved in inflammatory response	Any process that modulates the rate, frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases made as a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals.
respiratory burst	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.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O77774	NCF1	Neutrophil cytosol factor 1	Bos taurus (Bovine)	SS
A1X283	SH3PXD2B	SH3 and PX domain-containing protein 2B	Homo sapiens (Human)	EV
Q5TCZ1	SH3PXD2A	SH3 and PX domain-containing protein 2A	Homo sapiens (Human)	SS
A6NI72	NCF1B	Putative neutrophil cytosol factor 1B	Homo sapiens (Human)	SS
A8MVU1	NCF1C	Putative neutrophil cytosol factor 1C	Homo sapiens (Human)	SS
P97369	Ncf4	Neutrophil cytosol factor 4	Mus musculus (Mouse)	PR
Q09014	Ncf1	Neutrophil cytosol factor 1	Mus musculus (Mouse)	SS
O89032	Sh3pxd2a	SH3 and PX domain-containing protein 2A	Mus musculus (Mouse)	SS
A2AAY5	Sh3pxd2b	SH3 and PX domain-containing protein 2B	Mus musculus (Mouse)	SS
F1M707	Ncf1	Neutrophil cytosolic factor 1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MGDTFIRHIA	LLGFEKRFVP	SQHYVYMFLV	KWQDLSEKVV	YRRFTEIYEF	HKTLKEMFPI
70	80	90	100	110	120
EAGAINPENR	IIPHLPAPKW	FDGQRAAENR	QGTLTEYCST	LMSLPTKISR	CPHLLDFFKV
130	140	150	160	170	180
RPDDLKLPTD	NQTKKPETYL	MPKDGKSTAT	DITGPIILQT	YRAIANYEKT	SGSEMALSTG
190	200	210	220	230	240
DVVEVVEKSE	SGWWFCQMKA	KRGWIPASFL	EPLDSPDETE	DPEPNYAGEP	YVAIKAYTAV
250	260	270	280	290	300
EGDEVSLLEG	EAVEVIHKLL	DGWWVIRKDD	VTGYFPSMYL	QKSGQDVSQA	QRQIKRGAPP
310	320	330	340	350	360
RRSSIRNAHS	IHQRSRKRLS	QDAYRRNSVR	FLQQRRRQAR	PGPQSPGSPL	EEERQTQRSK
370	380
PQPAVPPRPS	ADLILNRCSE	STKRKLASAV