AiPD: Autoinhibited Protein Database

Q9NRY6

Gene name	PLSCR3
Protein name	Phospholipid scramblase 3
Names	PL scramblase 3, Ca(2+)-dependent phospholipid scramblase 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57048
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-65 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-65 (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 Q9NRY6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NRY6-F1	Predicted				AlphaFoldDB

266 variants for Q9NRY6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA397803882 rs1360324579	2	A>P		No	ClinGen gnomAD
CA397803759 rs1465445810	3	G>D		No	gnomAD ClinGen
rs903610112 CA287435257	6	P>L		No	TOPMed gnomAD ClinGen
CA8345605 rs776033551	6	P>S		No	ExAC TOPMed gnomAD ClinGen
CA8345603 rs566317666	7	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA8345604 rs566317666	7	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8345602 rs774637038	9	G>S		No	ExAC ClinGen
CA287435253 rs945038396	10	Y>H		No	ClinGen TOPMed gnomAD
rs1019417385 CA287435252	11	A>T		No	TOPMed gnomAD ClinGen
rs1008408979 CA287435246	12	P>R		No	Ensembl ClinGen
rs1370640860 CA397803700	13	S>L		No	gnomAD ClinGen
CA397803697 rs1451267648	14	P>S		No	gnomAD ClinGen
CA397803689 rs1052597747	15	P>L		No	ClinGen Ensembl
CA287435236 rs1052597747	15	P>Q		No	Ensembl ClinGen
CA397803680 rs1432744523	17	P>S		No	ClinGen gnomAD
rs1597695433 CA397803666	18	Y>S		No	ClinGen Ensembl
rs1163589169 CA397803654	19	P>L		No	TOPMed gnomAD ClinGen
CA287435228 rs374917045	19	P>S		No	TOPMed gnomAD ClinGen
rs1459292386 CA397803632	21	T>I		No	ClinGen TOPMed gnomAD
rs1459292386 CA397803634	21	T>N		No	TOPMed gnomAD ClinGen
rs1459292386 CA397803633	21	T>S		No	ClinGen TOPMed gnomAD
CA8345598 rs769978185	22	P>L		No	ExAC gnomAD ClinGen
rs1043297820 CA287435212	23	G>E		No	TOPMed ClinGen
rs1392039489 CA397803593	25	P>L		No	gnomAD ClinGen
rs948934055 CA287435199	26	E>*		No	ClinGen TOPMed gnomAD
rs948934055 CA287435207	26	E>K		No	TOPMed gnomAD ClinGen
rs780148424 CA8345596	27	P>L		No	ClinGen ExAC gnomAD
CA8345597 rs748174964	27	P>S		No	ExAC gnomAD ClinGen
CA8345595 rs758357139	28	A>V		No	ExAC gnomAD ClinGen
rs201923475 CA287435145	33	P>R		No	ClinGen 1000Genomes
CA287435169 rs973943878	33	P>S		No	TOPMed gnomAD ClinGen
CA397803538 rs973943878	33	P>T		No	ClinGen TOPMed gnomAD
CA287435127 rs373262490	34	G>R		No	ESP TOPMed gnomAD ClinGen
CA287435124 rs992982425	34	G>V		No	ClinGen Ensembl
rs1287159768 CA397803518	36	A>G		No	ClinGen TOPMed
rs1388291277 CA397803510	37	P>Q		No	ClinGen gnomAD
CA397803514 rs1324191271	37	P>T		No	gnomAD ClinGen
CA397803485 rs1388226537	39	P>L		No	gnomAD ClinGen
CA397803491 rs1221493191	39	P>S		No	ClinGen TOPMed
CA8345593 rs778811511	40	A>P		No	ExAC TOPMed gnomAD ClinGen
CA397803483 rs778811511	40	A>T		No	ClinGen ExAC TOPMed gnomAD
CA397803426 rs1372676313	43	P>L		No	ClinGen gnomAD
rs1166764925 CA397803412	44	A>V		No	gnomAD ClinGen
rs1378708931 CA397803409	45	P>A		No	gnomAD ClinGen
CA8345591 rs753578165	46	A>P		No	ExAC TOPMed gnomAD ClinGen
rs1206348404 CA397803389	47	P>L		No	ClinGen gnomAD
rs549970908 CA8345590	47	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397803380 rs1404784206	48	G>C		No	TOPMed ClinGen
CA397803378 rs1597695209	48	G>D		No	Ensembl ClinGen
CA287435073 rs908648200	51	L>F		No	ClinGen TOPMed gnomAD
CA8345588 rs752136675	53	P>T		No	ExAC gnomAD ClinGen
CA397803284 rs1338257922	54	S>L		No	ClinGen gnomAD
rs759983478 CA8345586	56	G>D		No	ExAC TOPMed gnomAD ClinGen
rs1307157817 CA397803238	57	P>L		No	ClinGen TOPMed
CA397803227 rs1326611524	58	V>A		No	ClinGen gnomAD
CA8345584 rs766804593	58	V>M		No	ExAC TOPMed gnomAD ClinGen
CA397803210 rs1024280923	59	A>D		No	ClinGen TOPMed gnomAD
rs1024280923 CA287435062	59	A>G		No	TOPMed gnomAD ClinGen
rs1228388595 CA397803171	61	G>E		No	TOPMed ClinGen
CA8345580 rs748255530	65	P>H		No	ExAC gnomAD ClinGen
CA397803107 rs748255530	65	P>R		No	ClinGen ExAC gnomAD
rs769844028 CA8345581	65	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1251579749 CA397803099	66	F>C		No	TOPMed ClinGen
rs1203563849 CA397803104	66	F>I		No	TOPMed ClinGen
TCGA novel	66	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8345578 rs772167905	70	P>A		No	ExAC TOPMed gnomAD ClinGen
rs772167905 CA397803043	70	P>S		No	ClinGen ExAC TOPMed gnomAD
rs761754400 CA287435017	71	G>R		No	Ensembl ClinGen
rs1235936199 CA397803016	72	V>L		No	ClinGen TOPMed
CA397802276 rs1179142435	73	P>S		No	ClinGen gnomAD
rs757131492 CA8345575	75	G>A		No	ExAC gnomAD ClinGen
rs1262487512 CA397802191	76	L>F		No	gnomAD ClinGen
rs199962387 CA8345574	77	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1167840608 CA397802105	80	V>M		No	ClinGen TOPMed
TCGA novel	81	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs749121325 CA8345554	84	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs770705569 CA8345555	84	Q>R		No	ExAC TOPMed gnomAD ClinGen
rs777383091 CA8345553	85	I>L		No	ClinGen ExAC TOPMed
CA8345552 rs755791282	86	L>F		No	ClinGen ExAC gnomAD
rs1470019848 CA397801795	86	L>S		No	ClinGen TOPMed
TCGA novel	89	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8345550 rs780797730	89	Q>R		No	ExAC TOPMed gnomAD ClinGen
rs1442385579 CA397801641	92	E>G		No	gnomAD ClinGen
rs1384127781 COSM1386261 CA397801621	93	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA397801603 rs1188613494	95	E>K		No	TOPMed gnomAD ClinGen
CA397801602 rs1188613494	95	E>Q		No	TOPMed gnomAD ClinGen
rs1281814286 CA397801451	96	T>R		No	ClinGen gnomAD
rs1456289791 CA397801368	99	G>C		No	ClinGen TOPMed
TCGA novel	100	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8345527 rs375566066	101	E>D		No	ESP ExAC TOPMed gnomAD ClinGen
CA8345526 rs757894434	102	T>S		No	ExAC gnomAD ClinGen
TCGA novel	104	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1169109939 CA397801117	105	R>L		No	gnomAD ClinGen
CA397801121 rs1386433288	105	R>W		No	ClinGen TOPMed
rs1415011761 CA397801068	107	E>K		No	gnomAD ClinGen
CA8345524 rs779463098	110	S>C		No	ExAC gnomAD ClinGen
rs938901924 CA287434652	112	A>T		No	ClinGen Ensembl
CA8345523 COSM343493 rs757764601	112	A>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1285473699 CA397800787	114	Q>H		No	ClinGen TOPMed
CA287434633 rs958916185	115	P>R		No	TOPMed ClinGen
rs764423691 CA397800759	115	P>S		No	ClinGen ExAC gnomAD
CA8345521 rs764423691	115	P>T		No	ExAC gnomAD ClinGen
CA8345519 rs752853579	117	G>S		No	ClinGen ExAC gnomAD
rs767530492 CA8345518	119	A>V		No	ClinGen ExAC TOPMed gnomAD
rs868092048 CA287434617	120	A>V		No	ClinGen gnomAD
rs1314493332 CA397800523	121	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA8345517 rs759634844	122	E>K		No	ExAC gnomAD ClinGen
CA397800461 rs1330336953	123	S>G		No	ClinGen gnomAD
CA397800423 rs1290588600	123	S>R		No	ClinGen gnomAD
rs773078941 CA8345516	124	N>S		No	ExAC TOPMed gnomAD ClinGen
rs761612327 CA8345513	127	A>P		No	ClinGen ExAC TOPMed gnomAD
rs761612327 CA8345514	127	A>T		No	ClinGen ExAC TOPMed gnomAD
rs776364462 CA8345512	127	A>V		No	ExAC gnomAD ClinGen
CA8345511 rs768332897	128	R>C		No	ClinGen ExAC TOPMed gnomAD
CA397800244 COSM3403207 rs1174093729	128	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA397800208 rs1469222904	130	C>Y		No	gnomAD ClinGen
CA8345509 rs543957736	133	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397800057 rs1250029909	134	R>C		No	TOPMed gnomAD ClinGen
CA397800060 rs1250029909	134	R>G		No	TOPMed gnomAD ClinGen
CA287434558 rs1047149521	134	R>H		No	ClinGen TOPMed
rs771541453 CA397800023	135	R>G		No	ExAC TOPMed gnomAD ClinGen
rs771541453 CA8345508	135	R>W		No	ExAC TOPMed gnomAD ClinGen
rs745380600 CA8345507	136	P>L		No	ExAC TOPMed gnomAD ClinGen
rs1270465331 CA397799947	138	R>H		No	ClinGen TOPMed gnomAD
CA397799935 rs1314789155	139	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA397799913 rs1305775836	140	R>L		No	gnomAD ClinGen
CA397799914 rs1305775836	140	R>P		No	gnomAD ClinGen
rs1384445539 CA397799866	142	A>D		No	gnomAD ClinGen
rs1384445539 CA397799863	142	A>G		No	ClinGen gnomAD
CA397799870 rs1228400390	142	A>S		No	gnomAD ClinGen
rs1384445539 CA397799861	142	A>V		No	gnomAD ClinGen
CA397799836 rs1451882894	143	D>N		No	gnomAD ClinGen
CA8345503 rs757778999	145	G>R		No	ClinGen ExAC TOPMed gnomAD
rs757778999 CA397799742	145	G>W		No	ClinGen ExAC TOPMed gnomAD
rs754277186 CA8345502	146	D>Y		No	ClinGen ExAC gnomAD
CA397799696 rs919940511	147	R>C		No	TOPMed gnomAD ClinGen
rs919940511 CA397799697	147	R>G		No	ClinGen TOPMed gnomAD
rs1446659516 CA397799673	147	R>H		No	ClinGen gnomAD
rs919940511 CA287434514	147	R>S		No	ClinGen TOPMed gnomAD
rs17856370 CA287434498	149	V>L		No	ExAC TOPMed gnomAD ClinGen
rs17856370 CA8345501	149	V>M		No	ExAC TOPMed gnomAD ClinGen
rs1465771107 CA397799553	151	R>C		No	gnomAD ClinGen
CA397799550 rs1264413546	151	R>H		No	gnomAD ClinGen
rs1203769995 CA397799496	153	L>F		No	ClinGen TOPMed gnomAD
CA397799455 rs1266397946	154	R>C		No	gnomAD ClinGen
CA287434493 rs964024086	154	R>H		No	ClinGen gnomAD
CA397799447 rs964024086	154	R>P		No	gnomAD ClinGen
rs1242698247 CA397799434	155	P>S		No	ClinGen TOPMed
rs368543672 CA8345498	161	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1410824220 CA397799225	163	C>G		No	ClinGen TOPMed gnomAD
rs1401925520 CA397799218	163	C>Y		No	gnomAD ClinGen
rs1171257847 CA397799077	167	L>P		No	gnomAD ClinGen
rs1479117824 CA397799064	168	Q>E		No	gnomAD ClinGen
CA397799065 rs1479117824	168	Q>K		No	gnomAD ClinGen
CA397799056 rs1395946728	168	Q>R		No	gnomAD ClinGen
rs1384050710 CA397799032	169	E>G		No	ClinGen gnomAD
CA397799042 rs1380458150	169	E>Q		No	gnomAD ClinGen
rs200518137 CA8345472	170	M>L		No	ClinGen ExAC TOPMed gnomAD
CA8345471 rs758455303	172	V>I		No	ClinGen ExAC gnomAD
CA287434159 rs376079176	174	A>S		No	ClinGen ESP ExAC gnomAD
rs376079176 CA8345470	174	A>T		No	ESP ExAC gnomAD ClinGen
CA397798583 rs1390842241	178	T>I		No	ClinGen gnomAD
CA8345466 rs767097298	180	I>T		No	ClinGen ExAC gnomAD
CA287434113 rs747553534	181	G>V		No	ClinGen Ensembl
CA8345464 rs774115089	183	V>M		No	ExAC gnomAD ClinGen
CA8345462 rs748790677	185	Q>L		No	ClinGen ExAC gnomAD
CA8345461 rs773919382	186	T>I		No	ExAC gnomAD ClinGen
CA397798302 rs773919382	186	T>N		No	ClinGen ExAC gnomAD
rs370826732 CA397798280	187	W>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA8345460 rs370826732	187	W>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs748485877 CA8345459	188	H>P		No	ClinGen ExAC gnomAD
rs780245948 CA8345455	190	F>L		No	ClinGen ExAC gnomAD
rs373044458 CA8345456	190	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs755267449 CA8345457	190	F>V		No	ClinGen ExAC gnomAD
CA8345453 rs750439662	196	I>M		No	ClinGen ExAC gnomAD
CA397797900 rs1290497861	196	I>N		No	TOPMed ClinGen
CA8345450 rs752462957	200	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8345449 rs571730152	201	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD ClinGen NCI-TCGA
CA8345448 rs759378791	201	R>H		No	ExAC TOPMed gnomAD ClinGen
CA397797715 rs1226142351	202	Q>H		No	ClinGen TOPMed
CA8345447 rs751315438	203	T>A		No	ExAC gnomAD ClinGen
rs376954900 CA8345446	204	V>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA287433949 rs912520986	206	R>*		No	ClinGen TOPMed gnomAD
rs376916902 CA397797639	206	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8345443 rs376916902	206	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1184871294 CA397797634	207	V>L		No	gnomAD ClinGen
CA8345442 rs202165065	209	G>E		No	1000Genomes ExAC TOPMed ClinGen
rs1597693517 CA397797515	210	P>A		No	Ensembl ClinGen
CA397797483 rs1442736216	211	C>Y		No	ClinGen gnomAD
CA397797435 rs1242396065	213	T>A		No	gnomAD ClinGen
CA397797295 rs1597693470	216	C>W		No	Ensembl ClinGen
CA8345440 rs776982633	216	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA397797289 rs1281875526	217	G>S		No	ClinGen gnomAD
rs769122935 CA8345439	217	G>V		No	ExAC gnomAD ClinGen
rs1597693455 CA397797195	218	T>P		No	Ensembl ClinGen
rs1269988135 CA397797175	219	D>H		No	TOPMed ClinGen
CA397797160 rs1481558459	220	T>A		No	ClinGen TOPMed
rs1317297086 CA397797140	220	T>I		No	gnomAD ClinGen
rs1404868524 CA397797051	223	E>K		No	TOPMed gnomAD ClinGen
rs1597690548 CA397796059	224	V>G		No	ClinGen Ensembl
rs746126324 CA397796023	227	R>G		No	ExAC TOPMed gnomAD ClinGen
rs371855874 CA8345415	227	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA8345416 rs746126324	227	R>W		No	ExAC TOPMed gnomAD ClinGen
CA287431973 rs368960494	231	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA8345413 rs368960494	231	R>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA287431968 rs762276557	231	R>H		No	gnomAD ClinGen
CA8345412 rs375820240	232	S>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs905612110 COSM984207 CA287431953	235	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8345411 rs371889335	235	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8345410 rs746820436	237	S>T		No	ExAC gnomAD ClinGen
rs1434848882 CA397795873	239	Q>*		No	ClinGen TOPMed
CA397795850 rs200758933	240	W>*		No	ESP ExAC TOPMed gnomAD ClinGen
rs368302888 CA287431918	240	W>C		No	Ensembl ClinGen
CA8345409 rs200758933	240	W>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA397795852 rs200758933	240	W>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs758246934 CA8345408	241	G>R		No	ClinGen ExAC TOPMed gnomAD
rs997228762 CA287431888	242	G>S		No	ClinGen Ensembl
rs570477982 CA8345403	245	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764611196 CA8345402	245	R>Q		No	ClinGen ExAC gnomAD
CA8345401 rs761133897	246	E>K		No	ExAC TOPMed gnomAD ClinGen
rs775941995 CA8345400	247	A>P		No	ClinGen ExAC gnomAD
rs759802321 CA8345398	248	L>R		No	ExAC gnomAD ClinGen
CA287431851 rs1042622810	250	D>E		No	ClinGen TOPMed
CA397795693 rs1352693630	251	A>P		No	gnomAD ClinGen
CA8345397 rs774701116	251	A>V		No	ExAC TOPMed gnomAD ClinGen
CA397795652 rs1221491105	253	D>G		No	TOPMed ClinGen
rs1470243952 CA397795639	254	F>I		No	gnomAD ClinGen
rs770991588 CA8345396	256	L>I		No	ClinGen ExAC TOPMed gnomAD
rs774572977 CA287431825	256	L>P		No	ClinGen TOPMed gnomAD
rs770991588 CA397795602	256	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1432850504 CA397795593	257	Q>*		No	gnomAD ClinGen
rs1217205073 CA397795549	259	P>L		No	TOPMed gnomAD ClinGen
rs1567650880 CA397795538	260	L>P		No	Ensembl ClinGen
rs1450123167 CA397795515	261	D>E		No	TOPMed ClinGen
TCGA novel	261	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287431816 rs934602838	263	D>H		No	ClinGen TOPMed gnomAD
rs934602838 CA397795492	263	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA397795459 rs1176742734	265	R>K		No	TOPMed ClinGen
rs1440181295 CA397795395	269	V>M		No	ClinGen TOPMed
rs1597690355 CA397795364	271	L>R		No	Ensembl ClinGen
CA397795356 rs780127700	272	G>A		No	ExAC gnomAD ClinGen
rs780127700 CA8345391	272	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA287431735 rs1053909707	277	I>M		No	Ensembl ClinGen
CA287431749 rs745587640	277	I>N		No	ExAC TOPMed gnomAD ClinGen
CA8345389 rs745587640	277	I>T		No	ExAC TOPMed gnomAD ClinGen
CA397793829 rs1238950812	278	D>H		No	TOPMed ClinGen
rs148500270 CA8345359	279	Y>C		No	1000Genomes ExAC gnomAD ClinGen
CA8345357 rs34961966	280	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765489424 CA8345358	280	M>V		No	ClinGen ExAC TOPMed gnomAD
CA287431474 TCGA novel rs575594227	281	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	1000Genomes gnomAD ClinGen NCI-TCGA
CA8345356 rs776807170	284	K>N		No	ExAC gnomAD ClinGen
CA397793612 rs375375075	285	R>*		No	ClinGen ESP TOPMed gnomAD
CA287431467 rs375375075	285	R>G		No	ClinGen ESP TOPMed gnomAD
CA8345355 rs772081469	285	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs759434956 CA8345354	286	G>R		No	ExAC gnomAD ClinGen
CA397793576 rs1208682591	287	G>D		No	gnomAD ClinGen
CA8345353 rs774319540	287	G>R		No	ClinGen ExAC TOPMed gnomAD
rs377553710 CA397793564	288	A>P		No	ESP ExAC TOPMed gnomAD ClinGen
rs377553710 CA8345351	288	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
rs866207735 CA287431402	290	P>S		No	ClinGen TOPMed gnomAD
rs1225625296 CA397793501	292	A>T		No	ClinGen gnomAD
rs1343832315 CA397793491	292	A>V		No	ClinGen gnomAD
rs3744549 CA8345347 VAR_015568	293	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1297031394 CA397793461	294	T>I		No	ClinGen gnomAD
CA8345346 rs754478715	295	S>N		No	ClinGen ExAC
rs780609079 CA8345344	296	S>W		No	ExAC ClinGen

No associated diseases with Q9NRY6

No regional properties for Q9NRY6

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9NRY6

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion membrane ; Single-pass type II membrane protein Mitochondrion inner membrane ; Single-pass type II membrane protein Nucleus	Palmitoylation regulates its localization to the cell membrane or the nucleus; trafficking to the cell membrane is dependent upon palmitoylation whereas in the absence of palmitoylation, localizes to the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 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.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

8 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
calcium-dependent protein binding	Binding to a protein or protein complex in the presence of calcium.
lead ion binding	Binding to lead (Pb) ions.
magnesium ion binding	Binding to a magnesium (Mg) ion.
mercury ion binding	Binding to a mercury ion (Hg).
phospholipid scramblase activity	Catalysis of the movement of phospholipids from one membrane bilayer leaflet to the other, by an ATP-independent mechanism.
protein self-association	Binding to a domain within the same polypeptide.
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.

8 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.
cardiolipin biosynthetic process	The chemical reactions and pathways resulting in the formation of cardiolipin, 1,3-bis(3-phosphatidyl)glycerol.
cellular response to lipopolysaccharide	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 lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
cholesterol homeostasis	Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell.
glucose homeostasis	Any process involved in the maintenance of an internal steady state of glucose within an organism or cell.
plasma membrane phospholipid scrambling	The movement of a population of phospholipid molecules from one leaflet of the plasma membrane bilayer to the opposite leaflet, resulting in loss of lipid asymmetry and surface exposure of phosphatidylserine (PS) and phosphatidylethanolamine (PE).
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of release of cytochrome c from mitochondria	Any process that modulates the rate, frequency or extent of release of cytochrome c from mitochondria, the process in which cytochrome c is enabled to move from the mitochondrial intermembrane space into the cytosol, which is an early step in apoptosis and leads to caspase activation.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9JIZ9	Plscr3	Phospholipid scramblase 3	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAGYLPPKGY	APSPPPPYPV	TPGYPEPALH	PGPGQAPVPA	QVPAPAPGFA	LFPSPGPVAL
70	80	90	100	110	120
GSAAPFLPLP	GVPSGLEFLV	QIDQILIHQK	AERVETFLGW	ETCNRYELRS	GAGQPLGQAA
130	140	150	160	170	180
EESNCCARLC	CGARRPLRVR	LADPGDREVL	RLLRPLHCGC	SCCPCGLQEM	EVQAPPGTTI
190	200	210	220	230	240
GHVLQTWHPF	LPKFSIQDAD	RQTVLRVVGP	CWTCGCGTDT	NFEVKTRDES	RSVGRISKQW
250	260	270	280	290
GGLVREALTD	ADDFGLQFPL	DLDVRVKAVL	LGATFLIDYM	FFEKRGGAGP	SAVTS