AiPD: Autoinhibited Protein Database

Q9NRN7

Gene name	AASDHPPT (CGI-80, HAH-P, HSPC223, x0005)
Protein name	L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Names	4'-phosphopantetheinyl transferase, Alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase, AASD-PPT, LYS5 ortholog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:60496
EC number	2.7.8.7: Transferases for other substituted phosphate groups
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

215-309 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

215-309 (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

4 structures for Q9NRN7

Entry ID	Method	Resolution	Chain	Position	Source
2BYD	X-ray	200 A	A	14-309	PDB
2C43	X-ray	193 A	A	14-309	PDB
2CG5	X-ray	270 A	A	14-309	PDB
AF-Q9NRN7-F1	Predicted				AlphaFoldDB

268 variants for Q9NRN7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs370431948	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456713104 CA382286297	3	F>L		No	ClinGen gnomAD
rs1414782237 CA382286303	4	P>L		No	ClinGen TOPMed
CA228287879 rs375255251	4	P>S		No	ClinGen ESP TOPMed gnomAD
CA6259471 rs746868844	5	A>V		No	ClinGen ExAC gnomAD
rs768826598 CA6259472	6	K>E		No	ClinGen ExAC gnomAD
CA6259473 rs144491127	6	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	6	K>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA228287885 rs954125733	7	R>L		No	ClinGen TOPMed
rs1452734933 CA382286316	7	R>W		No	ClinGen TOPMed
rs767429201 CA6259474	8	F>*		No	ClinGen ExAC
CA382286324 rs1478103985	8	F>C		No	ClinGen gnomAD
rs1247951549 CA382286319	8	F>I		No	ClinGen TOPMed gnomAD
rs1247951549 CA382286321	8	F>V		No	ClinGen TOPMed gnomAD
COSM238614 CA382286333 rs1198632927	9	C>*	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA6259477 rs769989106	10	L>*		No	ClinGen ExAC
CA6259478 rs773364682	11	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6259479 rs370780651	12	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs868311667 CA228287895	12	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA382286356 rs1209350110	14	M>V		No	ClinGen TOPMed
CA6259481 rs774946363	15	E>A		No	ClinGen ExAC TOPMed gnomAD
CA382286379 rs1386431394	17	V>L		No	ClinGen TOPMed gnomAD
CA6259482 rs759939956	18	R>H		No	ClinGen ExAC TOPMed gnomAD
CA382286398 rs1405692738	20	A>T		No	ClinGen gnomAD
rs753397859 CA6259484	24	G>R		No	ClinGen ExAC gnomAD
rs753397859 CA382286426	24	G>S		No	ClinGen ExAC gnomAD
rs1036727592 CA228287905	25	T>S		No	ClinGen gnomAD
CA382286443 rs1252287792	26	W>C		No	ClinGen gnomAD
rs1565408649 CA382286448	27	L>P		No	ClinGen Ensembl
rs765000038 CA382286454	28	P>L		No	ClinGen ExAC gnomAD
CA6259487 rs765000038	28	P>R		No	ClinGen ExAC gnomAD
rs1367873602 CA382286470	31	A>D		No	ClinGen gnomAD
CA228287914 rs374182809	31	A>T		No	ClinGen ESP TOPMed
rs949988008 CA228287917	32	E>D		No	ClinGen TOPMed gnomAD
CA382286497 rs1565408666	35	L>P		No	ClinGen Ensembl
CA382286494 rs1421421067	35	L>V		No	ClinGen TOPMed
CA6259489 rs758287602	36	A>E		No	ClinGen ExAC gnomAD
CA382286499 rs1260877797	36	A>T		No	ClinGen gnomAD
CA382286503 rs758287602	36	A>V		No	ClinGen ExAC gnomAD
CA6259491 rs747005296	38	R>Q		No	ClinGen ExAC gnomAD
rs1456250000 CA382286519	39	S>L		No	ClinGen gnomAD
CA6259493 rs754865559	40	I>N		No	ClinGen ExAC gnomAD
CA382286527 rs1385839576	41	Q>*		No	ClinGen TOPMed gnomAD
rs1425350421 CA382286530	41	Q>R		No	ClinGen gnomAD
CA382286536 rs1406078269	42	P>S		No	ClinGen TOPMed
rs368589560 CA6259497	43	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA382286540 rs1297682893	43	E>K		No	ClinGen gnomAD
rs1565408709 CA382286568	46	E>G		No	ClinGen Ensembl
rs149825885 CA6259498	47	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs778002324 CA6259499	48	I>T		No	ClinGen ExAC gnomAD
rs772448449 CA6259504	52	V>D		No	ClinGen ExAC gnomAD
CA382286604 rs760159393	52	V>I		No	ClinGen ExAC TOPMed gnomAD
rs760159393 CA6259503	52	V>L		No	ClinGen ExAC TOPMed gnomAD
rs916749408 CA228287936	53	F>V		No	ClinGen TOPMed gnomAD
CA382286616 rs1205630994	54	A>P		No	ClinGen gnomAD
rs1205630994 CA382286617	54	A>S		No	ClinGen gnomAD
CA228287942 rs893916537	56	D>G		No	ClinGen TOPMed
CA6259507 rs764787601	56	D>N		No	ClinGen ExAC gnomAD
CA6259508 rs750145985	57	A>V		No	ClinGen ExAC gnomAD
CA382286639 rs1326914444	58	K>E		No	ClinGen gnomAD
TCGA novel	60	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382286664 rs1213737121	61	M>I		No	ClinGen gnomAD
CA228287945 rs145740158 CA382286657	61	M>L		No	ClinGen ESP TOPMed gnomAD
CA382286690 rs1195441746	64	R>C		No	ClinGen TOPMed
CA6259528 rs769948189	64	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769948189 CA6259529	64	R>L		No	ClinGen ExAC TOPMed gnomAD
CA382286733 rs1555077600	70	L>*		No	ClinGen Ensembl
rs1555077600 CA382286732	70	L>S		No	ClinGen Ensembl
rs1470145265 CA382286741	71	V>A		No	ClinGen TOPMed
CA382286738 rs1186878196	71	V>F		No	ClinGen TOPMed
rs182179695 CA6259535	72	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6259534 rs182179695	72	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs925265351 CA228288294	76	N>S		No	ClinGen TOPMed
CA6259537 rs752680724	77	I>T		No	ClinGen ExAC gnomAD
rs141662559 CA6259539	79	W>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6259541 rs185130252	81	H>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1287410748 CA382286812	82	I>V		No	ClinGen TOPMed gnomAD
CA6259542 rs757307172	83	R>C		No	ClinGen ExAC TOPMed gnomAD
rs138269559 CA6259543	83	R>H	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs953187535 CA228288303	85	Q>P		No	ClinGen Ensembl
rs986390209 CA228288306	86	R>K		No	ClinGen Ensembl
CA382286843 rs1591542601	87	T>A		No	ClinGen Ensembl
CA382286853 rs1403335920	88	A>V		No	ClinGen TOPMed
rs746066358 CA6259544	89	K>E		No	ClinGen ExAC gnomAD
rs1364856917 CA382286857	89	K>R		No	ClinGen gnomAD
CA6259545 rs758734056	92	P>Q		No	ClinGen ExAC gnomAD
rs747582897 CA6259547	93	V>G		No	ClinGen ExAC gnomAD
CA228288312 rs933571601	93	V>I		No	ClinGen TOPMed gnomAD
CA382286880 rs933571601	93	V>L		No	ClinGen TOPMed gnomAD
rs372240914 CA6259549	96	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs748751438 CA6259550	98	S>L		No	ClinGen ExAC gnomAD
CA6259551 rs770434242	99	S>L		No	ClinGen ExAC TOPMed gnomAD
rs770434242 CA382286920	99	S>W		No	ClinGen ExAC TOPMed gnomAD
rs773897361 CA6259552	100	N>S		No	ClinGen ExAC TOPMed gnomAD
CA228288321 rs11553948	101	P>H		No	ClinGen gnomAD
CA382286932 rs11553948	101	P>L		No	ClinGen gnomAD
CA382286930 rs1487527396	101	P>S		No	ClinGen gnomAD
CA6259553 rs560445245	102	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767341231 CA6259554	103	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	103	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760670089 CA6259556	106	N>D		No	ClinGen ExAC gnomAD
rs764020282 CA6259557	106	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1163627985 CA382286967	107	F>I		No	ClinGen gnomAD
rs1347809746 CA382286976	108	N>D		No	ClinGen gnomAD
rs528924003 CA6259559	109	I>V		No	ClinGen ExAC gnomAD
TCGA novel	111	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	111	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs76521046 CA228288333	111	H>Q		No	ClinGen Ensembl
CA6259561 rs765333011	111	H>R		No	ClinGen ExAC gnomAD
CA382287006 COSM1243849 rs1398090440	112	Q>R	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs750664593 CA6259562	113	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1025955229 CA228288337	115	Y>H		No	ClinGen TOPMed gnomAD
rs758683719 CA6259563	116	A>V		No	ClinGen ExAC gnomAD
CA382287038 rs1342015250	117	V>A		No	ClinGen TOPMed
rs147661207 CA6259565	124	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484128059 CA382287101	127	G>E		No	ClinGen gnomAD
rs1023217274 CA228288344	128	I>T		No	ClinGen TOPMed
rs1206322788 CA382287123	130	I>R		No	ClinGen TOPMed gnomAD
CA382287122 rs1206322788	130	I>T		No	ClinGen TOPMed gnomAD
CA382287131 rs1292591344	131	M>I		No	ClinGen gnomAD
CA382287140 rs1488216252	132	K>N		No	ClinGen TOPMed gnomAD
CA382287165 rs1565409523	136	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA382287192 rs1286428407 COSM292983	138	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA6259585 rs751784261	138	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA382287195 rs1379346269	139	G>S		No	ClinGen gnomAD
CA6259586 rs538614014	141	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6259587 rs781589818	146	H>L		No	ClinGen ExAC gnomAD
rs1565411919 CA382287295	152	F>L		No	ClinGen Ensembl
CA6259591 rs778352635	153	T>N		No	ClinGen ExAC gnomAD
CA6259590 rs756629309	153	T>P		No	ClinGen ExAC gnomAD
TCGA novel	154	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6259592 rs554145918	155	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA6259593 rs771510274	157	W>*		No	ClinGen ExAC gnomAD
CA382287325 rs1376501944	157	W>R		No	ClinGen gnomAD
rs199912486 CA6259594	158	E>K		No	ClinGen ExAC TOPMed gnomAD
CA382287340 rs1458482235	159	T>A		No	ClinGen TOPMed
CA382287365 rs1277206384	162	S>R		No	ClinGen gnomAD
rs142361313 CA6259597	162	S>R		No	ClinGen ESP ExAC
CA6259598 rs377347020	163	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6259599 rs769778029	163	F>S		No	ClinGen ExAC gnomAD
rs1431405279 CA382287429	171	D>V		No	ClinGen gnomAD
rs1170736692 CA382287426	171	D>Y		No	ClinGen gnomAD
rs759809244 CA6259604	172	M>V		No	ClinGen ExAC gnomAD
CA228290609 rs767828679	175	R>K		No	ClinGen ExAC TOPMed gnomAD
rs767828679 CA228290610	175	R>M		No	ClinGen ExAC TOPMed gnomAD
rs767828679 CA6259605	175	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1378337078 CA382287462	176	N>H		No	ClinGen gnomAD
rs1389902990 CA382287464	176	N>S		No	ClinGen gnomAD
rs1163725354 CA382287474	177	W>*		No	ClinGen TOPMed
rs1212667918 CA382287508	180	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	181	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1301410229 CA382287521	182	S>T		No	ClinGen TOPMed gnomAD
rs1162378301 CA382287538	184	I>T		No	ClinGen TOPMed
rs1406102299 CA382287549	186	A>P		No	ClinGen gnomAD
rs761120486 CA6259624	187	I>T		No	ClinGen ExAC gnomAD
rs752802275 CA6259623	187	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1230124300 CA382287563	188	G>A		No	ClinGen gnomAD
rs764322578 CA6259625	189	V>I		No	ClinGen ExAC TOPMed gnomAD
CA382287573 rs1238570169	190	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1259398532 CA382287579	191	L>P		No	ClinGen TOPMed
CA382287582 rs1211629992	192	G>R		No	ClinGen TOPMed
rs1004556535 CA228290733	192	G>V		No	ClinGen Ensembl
CA228290736 rs945598306	196	Q>R		No	ClinGen TOPMed
rs765944065 CA6259630	197	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6259628 rs1326141469	197	R>W		No	ClinGen TOPMed
rs751076936 CA6259631	199	E>*		No	ClinGen ExAC gnomAD
CA382287629 rs1215806170	199	E>V		No	ClinGen gnomAD
CA382287645 rs1193666239	201	D>E		No	ClinGen gnomAD
rs1430063397 CA382287643	201	D>G		No	ClinGen gnomAD
rs754391220 CA6259632	201	D>Y		No	ClinGen ExAC gnomAD
CA228290747 rs866368918	203	S>A		No	ClinGen TOPMed
rs1472592749 CA382287654	203	S>C		No	ClinGen gnomAD
rs866368918 CA228290745	203	S>P		No	ClinGen TOPMed
rs777688605 CA6259636	208	D>A		No	ClinGen ExAC gnomAD
rs749296145 CA6259637	208	D>E		No	ClinGen ExAC
CA382287684 rs1407074150	208	D>N		No	ClinGen TOPMed
rs770986746 CA6259638	209	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1384226808 CA382287721	213	Y>F		No	ClinGen gnomAD
CA382287730 rs1249288795	214	K>N		No	ClinGen gnomAD
CA382287744 rs1319425948	216	T>I		No	ClinGen gnomAD
CA382287741 rs1449516852	216	T>S		No	ClinGen gnomAD
rs1339454529 CA382287747	217	R>C		No	ClinGen gnomAD
rs774362758 CA6259639	217	R>H		No	ClinGen ExAC gnomAD
rs1012338738 CA228290761	220	L>V		No	ClinGen TOPMed gnomAD
rs771993454 CA6259641	221	D>E		No	ClinGen ExAC gnomAD
TCGA novel	221	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6259640 rs369888805	221	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6259642 rs560817474	227	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	228	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1205438050 CA382287833	229	A>E		No	ClinGen gnomAD
rs1205438050 CA382287834	229	A>G		No	ClinGen gnomAD
CA382287832 rs1486827282	229	A>S		No	ClinGen gnomAD
CA382287830 rs1486827282	229	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1421027750 CA382287864	232	E>*		No	ClinGen gnomAD
rs1421027750 CA382287865	232	E>Q		No	ClinGen gnomAD
rs772230896 CA6259659	236	D>G		No	ClinGen ExAC gnomAD
TCGA novel	237	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468523832 CA382287910	238	H>Y		No	ClinGen gnomAD
CA382287918 rs1314136529	239	H>N		No	ClinGen TOPMed
CA6259660 rs775407217	239	H>R		No	ClinGen ExAC TOPMed gnomAD
CA6259661 rs747326449	240	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA228291418 rs916168107	241	V>G		No	ClinGen Ensembl
CA382287932 rs1360059533	241	V>I		No	ClinGen gnomAD
CA382287942 rs1464795170	242	A>V		No	ClinGen gnomAD
rs768875145 CA6259662	245	L>F		No	ClinGen ExAC TOPMed gnomAD
CA228291422 rs768875145	245	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6259663 rs776779250	246	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1383856272 CA382287967	247	K>E		No	ClinGen TOPMed
rs1300475809 CA382287978	248	P>L		No	ClinGen TOPMed gnomAD
CA382287975 rs1391501935	248	P>S		No	ClinGen gnomAD
CA6259665 rs546175982	249	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382287989 rs1565412816	250	G>A		No	ClinGen Ensembl
rs934391412 CA228291429	250	G>R		No	ClinGen Ensembl
CA6259667 rs564320606	252	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143179580 CA6259668	253	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs752143900 CA6259669	255	D>E		No	ClinGen ExAC gnomAD
rs1489897945 CA382288038	256	V>A		No	ClinGen gnomAD
CA228291917 rs377260768	256	V>F		No	ClinGen TOPMed
CA228291915 rs377260768	256	V>I		No	ClinGen TOPMed
rs771345451 CA6259686	258	S>F		No	ClinGen ExAC gnomAD
rs1485731777 CA382288052	259	Q>E		No	ClinGen gnomAD
CA382288066 rs1389268793	260	D>E		No	ClinGen gnomAD
CA382288063 rs1161337356	260	D>G		No	ClinGen gnomAD
rs774862757 CA382288073	261	D>E		No	ClinGen ExAC gnomAD
rs760282634 CA382288078	262	S>F		No	ClinGen ExAC gnomAD
rs760282634 CA6259688	262	S>Y		No	ClinGen ExAC gnomAD
CA382288082 rs1428751687	263	K>E		No	ClinGen gnomAD
CA382288093 rs1382849307	264	P>L		No	ClinGen gnomAD
CA382288088 rs1162314489	264	P>S		No	ClinGen gnomAD
rs1426053884 CA382288098	265	T>I		No	ClinGen gnomAD
rs1317645515 CA382288102	266	Q>*		No	ClinGen gnomAD
rs761532267 CA6259692	271	I>L		No	ClinGen ExAC gnomAD
CA228291928 rs148274520	271	I>M		No	ClinGen ESP
rs761532267 CA6259691	271	I>V		No	ClinGen ExAC gnomAD
CA6259693 rs750193914	273	N>S		No	ClinGen ExAC TOPMed gnomAD
rs751478018 CA6259697	276	D>G		No	ClinGen ExAC TOPMed
CA6259695 rs779881034	276	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1031403192 CA228291936	277	L>I		No	ClinGen TOPMed gnomAD
CA6259698 rs755091185	278	M>L		No	ClinGen ExAC gnomAD
rs1591546618 CA382288185	278	M>T		No	ClinGen Ensembl
rs1293072326 CA382288194	279	S>L		No	ClinGen TOPMed gnomAD
rs965528929 CA228291939	280	S>T		No	ClinGen TOPMed gnomAD
CA6259699 rs781229457	280	S>Y		No	ClinGen ExAC gnomAD
rs769999593 CA6259701	282	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777983492 CA6259702	283	P>L		No	ClinGen ExAC gnomAD
CA6259703 rs749627809	284	M>V		No	ClinGen ExAC gnomAD
rs1345317128 CA382288250	288	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	288	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772621636 CA228291948	288	D>V		No	ClinGen Ensembl
CA382288262 rs1445871293	290	S>L		No	ClinGen TOPMed gnomAD
rs771276216 CA6259704	291	F>S		No	ClinGen ExAC gnomAD
rs1290816424 CA382288284	293	D>E		No	ClinGen TOPMed gnomAD
rs774750510 CA6259705	293	D>H		No	ClinGen ExAC TOPMed gnomAD
rs774750510 CA382288280	293	D>N		No	ClinGen ExAC TOPMed gnomAD
CA382288294 rs1398897763	295	F>V		No	ClinGen gnomAD
rs1161280369 CA382288305	296	C>Y		No	ClinGen gnomAD
rs377422618 CA228291952	298	T>I		No	ClinGen ESP TOPMed
CA382288347 rs1340954410	302	P>A		No	ClinGen TOPMed
rs1236197156 CA382288354	303	I>K		No	ClinGen TOPMed
CA6259707 rs768327551	303	I>M		No	ClinGen ExAC gnomAD
rs946105689 CA228291955	303	I>V		No	ClinGen TOPMed gnomAD
rs776262908 COSM922550 CA6259708	304	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs761620246 CA6259709 COSM922551	304	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764814762 CA6259710	308	K>M		No	ClinGen ExAC TOPMed gnomAD
rs1388686888	310	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772876329 CA6259712	310	S>C		No	ClinGen ExAC gnomAD
CA382288394 rs1203458518	310	S>R		No	ClinGen gnomAD
CA6259711 rs772876329	310	S>W		No	ClinGen ExAC gnomAD

No associated diseases with Q9NRN7

1 regional properties for Q9NRN7

Type	Name	Position	InterPro Accession
domain	4'-phosphopantetheinyl transferase domain	125 - 244	IPR008278

Functions

		Description
EC Number	2.7.8.7	Transferases for other substituted phosphate groups
Subcellular Localization	Cytoplasm, cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
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.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

2 GO annotations of molecular function

Name	Definition
holo-[acyl-carrier-protein] synthase activity	Catalysis of the reaction: CoA + substrate-serine = adenosine 3',5'-bisphosphate + substrate-serine-4'-phosphopantetheine. The transfer of the 4'-phosphopantetheine (Ppant) co-factor from coenzyme A to the hydroxyl side chain of the serine residue of acyl- or peptidyl-carrier protein (ACP or PCP) to convert them from the apo to the holo form.
magnesium ion binding	Binding to a magnesium (Mg) ion.

4 GO annotations of biological process

Name	Definition
10-formyltetrahydrofolate catabolic process	The chemical reactions and pathways resulting in the breakdown of 10-formyltetrahydrofolate, the formylated derivative of tetrahydrofolate.
lysine biosynthetic process via aminoadipic acid	The chemical reactions and pathways resulting in the formation of lysine by the aminoadipic pathway.
pantothenate metabolic process	The chemical reactions and pathways involving pantothenate, the anion of pantothenic acid, the amide of beta-alanine and pantoic acid. It is a B complex vitamin that is a constituent of coenzyme A and is distributed ubiquitously in foods.
protein maturation	Any process leading to the attainment of the full functional capacity of a protein.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
B2RYJ4	Aasdhppt	L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MVFPAKRFCL	VPSMEGVRWA	FSCGTWLPSR	AEWLLAVRSI	QPEEKERIGQ	FVFARDAKAA
70	80	90	100	110	120
MAGRLMIRKL	VAEKLNIPWN	HIRLQRTAKG	KPVLAKDSSN	PYPNFNFNIS	HQGDYAVLAA
130	140	150	160	170	180
EPELQVGIDI	MKTSFPGRGS	IPEFFHIMKR	KFTNKEWETI	RSFKDEWTQL	DMFYRNWALK
190	200	210	220	230	240
ESFIKAIGVG	LGFELQRLEF	DLSPLNLDIG	QVYKETRLFL	DGEEEKEWAF	EESKIDEHHF
250	260	270	280	290	300
VAVALRKPDG	SRHQDVPSQD	DSKPTQRQFT	ILNFNDLMSS	AVPMTPEDPS	FWDCFCFTEE

IPIRNGTKS