AiPD: Autoinhibited Protein Database

Q6IQ20

Gene name	NAPEPLD (C7orf18)
Protein name	N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D
Names	N-acyl phosphatidylethanolamine phospholipase D, NAPE-PLD, NAPE-hydrolyzing phospholipase D
Species	Homo sapiens (Human)
KEGG Pathway	hsa:222236
EC number	3.1.4.54: Phosphoric diester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-145 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-145 (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

2 structures for Q6IQ20

Entry ID	Method	Resolution	Chain	Position	Source
4QN9	X-ray	265 A	A/B	1-393	PDB
AF-Q6IQ20-F1	Predicted				AlphaFoldDB

311 variants for Q6IQ20

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs542549561 CA4417182	2	D>E		No	1000Genomes ExAC gnomAD ClinGen
rs779977953 CA4417183	2	D>G		No	ClinGen ExAC gnomAD
CA4417181 rs530322396	4	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA368725118 rs1585871812	9	S>C		No	Ensembl ClinGen
CA368725110 rs1422947537	10	L>P		No	ClinGen gnomAD
rs778924087 COSM1165271 CA4417180	11	M>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs757368623 CA4417179	11	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	12	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368725092 rs1426133557	12	T>S		No	ClinGen gnomAD
rs753846829 CA4417178	13	S>G		No	ExAC TOPMed gnomAD ClinGen
CA163469075 rs997237712	15	Q>R		No	TOPMed gnomAD ClinGen
CA368724994 rs1219859836	20	A>E		No	ClinGen TOPMed gnomAD
rs757595572 CA4417175	24	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs753109607 CA4417174	24	R>H		No	ClinGen ExAC gnomAD
CA4417173 rs767899867	27	S>L		No	ExAC gnomAD ClinGen
rs1306122616 CA368724915	28	A>T		No	TOPMed gnomAD ClinGen
rs1391778261 CA368724907	28	A>V		No	ClinGen gnomAD
rs145821009 CA4417169	29	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4417170 rs145821009	29	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs148947157 CA4417171	29	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA4417166 rs746685656	32	G>E		No	ExAC gnomAD ClinGen
CA163469017 rs971415194	32	G>R		No	TOPMed gnomAD ClinGen
rs771994194 CA4417164	33	A>T		No	ClinGen ExAC gnomAD
rs1414707497 CA368724861	33	A>V		No	ClinGen gnomAD
CA4417163 rs745597246	34	S>N		No	ClinGen ExAC gnomAD
CA4417162 rs779048805	37	S>P		No	ClinGen ExAC gnomAD
rs757135925 CA4417161	38	R>G		No	ExAC gnomAD ClinGen
rs753989417 CA4417160	38	R>M		No	ExAC gnomAD ClinGen
rs1259603039 CA368724786	40	S>C		No	ClinGen gnomAD
CA163468966 rs947585444	41	R>T		No	ClinGen TOPMed gnomAD
CA368724749 rs1221256677	42	K>N		No	ClinGen TOPMed
rs777691619 CA4417159	42	K>R		No	ClinGen ExAC gnomAD
rs1281204715 CA368724657	47	D>G		No	ClinGen gnomAD
rs1345031090 CA368724585	50	L>R		No	ClinGen TOPMed
CA368724548 rs1184313214	52	E>D		No	gnomAD ClinGen
rs373405050 CA163468943	52	E>K		No	ESP ClinGen
CA163468938 rs752921659	53	D>G		No	ExAC TOPMed gnomAD ClinGen
CA4417156 rs752921659	53	D>V		No	ExAC TOPMed gnomAD ClinGen
rs141112494 CA4417155	55	T>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs1382946779 CA368724465	58	K>M		No	ClinGen gnomAD
CA4417154 rs759952828	59	K>E		No	ClinGen ExAC gnomAD
rs751919588 CA4417153	62	D>E		No	ClinGen ExAC gnomAD
CA368724342 rs1391458612	63	G>E		No	ClinGen gnomAD
rs1563361957 CA368724356	63	G>R		No	ClinGen Ensembl
CA4417152 rs191063247	64	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4417151 rs763349876	65	F>C		No	ExAC gnomAD ClinGen
CA368724302 rs1205574443	65	F>V		No	ClinGen TOPMed
rs1200608101 CA368724251	67	N>K		No	ClinGen gnomAD
COSM1083545 CA4417149 rs557461535	68	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA163468863 rs1049391695	71	T>R		No	Ensembl ClinGen
rs771839205 CA4417146	72	W>*		No	ExAC gnomAD ClinGen
rs146634695 CA163468837	74	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP TOPMed gnomAD ClinGen NCI-TCGA
rs1276372013 CA368724123	75	P>A		No	gnomAD ClinGen
rs745726107 CA4417145	77	I>V		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	78	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1367983921 CA368723976	82	R>K		No	ClinGen TOPMed gnomAD
rs1367983921 CA368723971	82	R>T		No	ClinGen TOPMed gnomAD
rs1469634083 CA368723944 COSM200043	83	W>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA368723933 rs1403401677	84	L>P		No	TOPMed gnomAD ClinGen
rs749205399 CA4417141	86	M>I		No	ExAC gnomAD ClinGen
TCGA novel	87	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364042718 CA368723790	89	D>G		No	ClinGen TOPMed
rs1171062857 CA368723810	89	D>Y		No	TOPMed ClinGen
CA163468765 rs539299272	91	S>R		No	Ensembl ClinGen
rs756161375 CA4417139	98	E>K		No	ClinGen ExAC TOPMed gnomAD
CA368722125 rs759077291	99	E>D		No	ExAC TOPMed gnomAD ClinGen
rs534378402 CA163463611	101	D>N		No	Ensembl ClinGen
rs751184487 CA4417103	102	K>R		No	ClinGen ExAC gnomAD
rs766041475 CA4417102	103	E>D		No	ExAC TOPMed gnomAD ClinGen
rs1207297260 CA368722093	103	E>Q		No	TOPMed ClinGen
CA368722048 rs1289435011	107	L>P		No	ClinGen gnomAD
rs1230559513 CA368722045	108	K>E		No	ClinGen gnomAD
CA368721995 rs1436604455	112	I>V		No	gnomAD ClinGen
CA4417100 rs773026684	113	T>S		No	ExAC gnomAD ClinGen
CA368721965 rs1400101072	115	P>A		No	ClinGen TOPMed gnomAD
TCGA novel	116	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368721924 rs1269891291	118	A>D		No	TOPMed ClinGen
rs761759296 CA4417098	122	E>D		No	ExAC TOPMed gnomAD ClinGen
CA368721869 rs1244718729	123	A>V		No	ClinGen TOPMed
rs776507172 CA4417097	126	R>S		No	ExAC gnomAD ClinGen
rs1427486637 CA368721821	128	T>I		No	gnomAD ClinGen
rs768722090 CA4417096	129	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1478460782 CA368721782	132	H>R		No	gnomAD ClinGen
CA4417095 rs747058314	134	T>M		No	ClinGen ExAC TOPMed gnomAD
CA368721746 rs1392819081	136	M>I		No	ClinGen TOPMed
rs780202135 CA4417094	136	M>T		No	ExAC gnomAD ClinGen
rs144464811 CA4417093	137	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4417092 rs746261765	138	E>D		No	ClinGen ExAC TOPMed gnomAD
rs779400368 CA4417091	139	M>I		No	ClinGen ExAC gnomAD
rs1585853267 CA368721732	139	M>L		No	ClinGen Ensembl
CA368721719 rs1219491112	140	D>V		No	gnomAD ClinGen
CA368721715 rs1369263175	141	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA4417090 rs757648150	142	L>I		No	ExAC gnomAD ClinGen
rs1366126263 CA368721702	142	L>P		No	ClinGen TOPMed
CA163463531 rs749164347	143	I>V		No	ClinGen gnomAD
CA163463523 rs1037093447	145	L>P		No	ClinGen Ensembl
rs778357955 CA4417088	146	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1268776242 CA368721654	147	D>H		No	gnomAD ClinGen
CA368721649 rs1430371359	147	D>V		No	ClinGen gnomAD
rs751075529 CA4417086	148	P>H		No	ExAC gnomAD ClinGen
rs139098770 CA4417085	149	I>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA368721609 rs1176517870	151	S>N		No	gnomAD ClinGen
rs12540583 CA4417083 VAR_038695	152	S>A	almost no change in activity [UniProt]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs12540583 CA368721602	152	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs12540583 CA368721600	152	S>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA4417082 rs201645773 COSM296368	153	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA4417081 rs114343410 COSM1083541	153	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA577196264 rs1249215924	153	R>NI*		No	gnomAD ClinGen
rs776558668 CA4417080	156	P>L		No	ClinGen ExAC gnomAD
CA4417079 rs148634353	157	S>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs1190154271 CA368721521	159	Y>*		No	ClinGen TOPMed
CA163463474 rs913546295	160	M>K		No	ClinGen Ensembl
rs775611160 CA368721520	160	M>L		No	ClinGen ExAC TOPMed gnomAD
CA4417077 rs775611160	160	M>V		No	ClinGen ExAC TOPMed gnomAD
rs772234349 CA4417076	161	G>D		No	ExAC gnomAD ClinGen
rs1585852861 CA368721487	163	K>E		No	Ensembl ClinGen
CA368721470 rs1227054803	164	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM173029 CA4417075 rs746125875	166	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA163463464 rs1008705685	166	R>H		No	ClinGen TOPMed gnomAD
rs779238523 CA4417074	167	R>C		No	ClinGen ExAC TOPMed gnomAD
rs149509915 CA4417072	167	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs149509915 CA4417073	167	R>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs1303225302 CA368721410 COSM1673415	169	P>L	central_nervous_system [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
CA368721363 rs1429328072	172	I>M		No	gnomAD ClinGen
rs756612515 CA4417070	172	I>V		No	ExAC gnomAD ClinGen
rs1390912632 CA368721310	175	L>R		No	TOPMed gnomAD ClinGen
CA4417068 rs779636606	177	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA4417069 rs138236364	177	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs537078637 CA4417067	178	I>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA163463370 rs1032081034	178	I>V		No	gnomAD ClinGen
CA4417066 COSM1446906 rs367936558	180	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
TCGA novel	181	V>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	182	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757105870 CA4417063	184	S>N		No	ExAC gnomAD ClinGen
CA368721163 rs1243048725	186	N>K		No	gnomAD ClinGen
rs753629948 CA4417062	187	H>Q		No	ClinGen ExAC gnomAD
rs764061241 CA4417061	190	H>L		No	ClinGen ExAC TOPMed gnomAD
CA368721108 rs1229851156	191	L>V		No	ClinGen gnomAD
CA368721102 rs1370957614	192	D>N		No	ClinGen gnomAD
rs760641884 CA4417060	194	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	194	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867804898 CA163463304	197	I>T		No	ClinGen Ensembl
rs1371391842 CA368721025	198	A>D		No	gnomAD ClinGen
CA163463302 rs375168047	199	L>*		No	ClinGen gnomAD
TCGA novel	199	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767669010 CA4417058	200	N>S		No	ExAC gnomAD ClinGen
rs1368431813 CA368720979	201	E>G		No	ClinGen gnomAD
rs1166163558 CA368720964	202	R>*		No	gnomAD ClinGen
rs192627519 CA4417057	202	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA4417056 rs774728611	203	F>I		No	ExAC TOPMed gnomAD ClinGen
rs1181905545 CA368720948	203	F>S		No	gnomAD ClinGen
CA4417055 rs771274613	204	G>D		No	ExAC gnomAD ClinGen
rs927415225 CA163463257	206	E>K		No	TOPMed ClinGen
rs1861727 CA163463247	207	L>F		No	ClinGen Ensembl
rs1253454087 CA368720866	208	R>T		No	ClinGen TOPMed gnomAD
CA4417054 rs749710412	209	W>R		No	ClinGen ExAC gnomAD
rs1487849888 CA368720814	211	V>M		No	gnomAD ClinGen
TCGA novel	212	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770003766 CA4417052	213	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1315039625 CA368720767	214	G>S		No	ClinGen gnomAD
CA368720733 rs1351365453	216	L>R		No	ClinGen gnomAD
rs1290406800 CA368720707	218	W>*		No	gnomAD ClinGen
rs1385278851 CA368720701	219	M>V		No	ClinGen gnomAD
CA4417050 rs201494239	222	C>Y		No	ESP ExAC TOPMed gnomAD ClinGen
CA4417049 rs757935153	227	V>M		No	ExAC gnomAD ClinGen
CA4417048 rs377641610	228	I>T		No	ESP ExAC TOPMed ClinGen
CA163463215 rs548509686	232	W>L		No	1000Genomes ClinGen
rs1173703000 CA368720481	233	W>*		No	ClinGen TOPMed
rs778607512 CA4417046	234	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4417045 rs753686055 CA4417044	235	E>D		No	ClinGen ExAC gnomAD
rs548887446 CA163463183	236	N>Y		No	ClinGen Ensembl
rs763973670 CA4417043	238	V>L		No	ClinGen ExAC gnomAD
CA368720378 rs1413756141	239	P>S		No	ClinGen gnomAD
CA4417042 rs536503294	240	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA163463162 rs1014431462	242	D>E		No	TOPMed gnomAD ClinGen
CA368720286 rs1484852987	244	V>I		No	gnomAD ClinGen
rs1209161011 CA368720238	245	T>I		No	gnomAD ClinGen
CA163463152 rs983521901	247	V>F		No	TOPMed ClinGen
CA163463141 rs951707918	248	F>L		No	TOPMed ClinGen
rs775484493 CA163463136	248	F>Y		No	ClinGen Ensembl
CA163463133 rs267601208	250	P>S		No	Ensembl ClinGen
CA368720083 rs1352895865	252	Q>*		No	ClinGen TOPMed
CA368720039 rs1563354501	253	H>Q		No	Ensembl ClinGen
CA368720060 rs1261001384	253	H>Y		No	TOPMed gnomAD ClinGen
CA368720019 rs1231414380	254	W>L		No	ClinGen gnomAD
rs199977727 CA163463131	254	W>R		No	ClinGen Ensembl
rs1330738341 CA368720000	255	C>F		No	TOPMed gnomAD ClinGen
rs759755918 CA4417039	257	R>S		No	ExAC gnomAD ClinGen
CA368719893 rs1406773873	260	M>K		No	gnomAD ClinGen
rs960051775 CA163463125	262	D>E		No	ClinGen Ensembl
rs766754247 CA4417036	263	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1352992758 CA368719795	264	K>N		No	ClinGen gnomAD
CA4417035 rs201222635	264	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1309969096 CA368719800	264	K>R		No	TOPMed ClinGen
CA4417034 rs374613484	266	L>I		No	ESP ExAC TOPMed gnomAD ClinGen
rs748399855 CA4417032	267	W>G		No	ExAC gnomAD ClinGen
rs1465291116 CA368719733	268	G>D		No	ClinGen gnomAD
CA4417030 rs769043559	272	V>I		No	ClinGen ExAC TOPMed gnomAD
rs745426582 CA4417028	275	P>S		No	ExAC gnomAD ClinGen
rs142842834 CA4417027	277	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1018716199 CA163463032	278	R>*		No	TOPMed gnomAD ClinGen
CA4417026 COSM1083540 rs756709995	278	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4417025 rs748971822	279	F>Y		No	ClinGen ExAC gnomAD
rs1372885278 CA368719431	281	F>L		No	TOPMed ClinGen
rs746683932	281	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA163463020 rs1008762007	281	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs746683932	282	A>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs532713419 CA4417020	282	A>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs532713419 CA4417021	282	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4417019 rs371003614	282	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs766596571 CA4417015	285	T>A		No	ExAC TOPMed gnomAD ClinGen
rs1332609302 CA368719323	286	G>S		No	gnomAD ClinGen
rs763056538 CA4417014	286	G>V		No	ExAC ClinGen
CA368719279 rs1395746306	289	P>S		No	gnomAD ClinGen
CA368719258 rs1427402762	290	A>D		No	gnomAD ClinGen
CA368719261 rs1174012570	290	A>S		No	gnomAD ClinGen
rs765359191 CA4417012	293	E>G		No	ExAC ClinGen
rs1480062787 CA368719134	294	I>M		No	ClinGen TOPMed gnomAD
CA368719123 rs1429461507	295	G>E		No	ClinGen gnomAD
CA368719110 rs1389082610	296	K>E		No	TOPMed gnomAD ClinGen
CA4417011 COSM3431018 rs762301264	297	R>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs776833174 CA4417010	298	F>C		No	ClinGen ExAC gnomAD
rs150393096 CA4417009	299	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368719045 rs1383241877	299	G>R		No	ClinGen gnomAD
rs748738700 CA4417006	300	P>H		No	ExAC gnomAD ClinGen
rs748738700 CA4417005	300	P>L		No	ClinGen ExAC gnomAD
rs200496109 CA4417008	300	P>S		No	ExAC gnomAD ClinGen
rs200496109 CA4417007	300	P>T		No	ExAC gnomAD ClinGen
rs1202449548 CA368718981	302	D>Y		No	gnomAD ClinGen
rs868086774 CA163462816	304	A>T		No	ClinGen Ensembl
CA368718077 rs1229145445	307	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4417003 rs140516008	308	I>V		No	ClinGen ESP ExAC
CA368718059 rs1282887190	309	G>R		No	gnomAD ClinGen
COSM1083539 rs1244664309 CA368718052	310	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs748024738 CA4417001	311	Y>H		No	ClinGen ExAC gnomAD
rs148319078	313	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs762591568 CA4416986	315	W>*		No	ClinGen ExAC gnomAD
CA4416987 rs772555693	315	W>*		No	ClinGen ExAC TOPMed gnomAD
rs772555693 CA368717497	315	W>S		No	ExAC TOPMed gnomAD ClinGen
rs1405948784 CA368717451	319	Y>H		No	ClinGen gnomAD
rs926769912 CA163459534	320	Q>R		No	ClinGen TOPMed
CA368717421 rs1156697829	321	H>L		No	ClinGen gnomAD
CA163459532 rs982777037	322	V>A		No	gnomAD ClinGen
rs1471275554 CA368717382	324	P>L		No	ClinGen gnomAD
rs769298788 CA4416984	324	P>S		No	ExAC gnomAD ClinGen
CA368717378 rs1245126891	325	E>Q		No	TOPMed gnomAD ClinGen
rs1198171178 CA368717365	326	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA4416983 rs199841244	328	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA368717291 rs1207260189	333	D>N		No	ClinGen gnomAD
CA163459515 rs978141629	336	T>R		No	TOPMed gnomAD ClinGen
rs768582338 CA4416981 CA368717237	337	K>N		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	339	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149133622 CA4416979	340	M>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1371227773 CA368717168	342	I>V		No	ClinGen gnomAD
rs141345287 CA4416978	343	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4416977 rs746013001	345	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1318410063 CA368717065	347	F>L		No	ClinGen gnomAD
TCGA novel	348	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4416976 rs778886110	349	L>S		No	ExAC gnomAD ClinGen
CA4416975 rs372475430	351	N>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA4416973 rs764245348	352	E>K		No	ExAC gnomAD ClinGen
CA163449397 rs911245350	353	H>R		No	ClinGen TOPMed gnomAD
rs369637374 CA4416960	354	Y>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs778846010 CA4416959	358	P>L		No	ClinGen ExAC gnomAD
rs778846010 CA163449377	358	P>Q		No	ExAC gnomAD ClinGen
CA368715498 rs1486448432	358	P>S		No	ClinGen gnomAD
rs112590068 CA368715490	359	V>A		No	ClinGen gnomAD
rs112590068 CA163449358	359	V>E		No	ClinGen gnomAD
CA368715489 rs112590068	359	V>G		No	ClinGen gnomAD
CA4416958 rs757299392	359	V>M		No	ClinGen ExAC gnomAD
rs199541377 CA163449357	360	K>R		No	TOPMed gnomAD ClinGen
rs199541377 CA368715484	360	K>T		No	ClinGen TOPMed gnomAD
CA163449351 rs563587119	362	N>S		No	TOPMed ClinGen
rs146593231 CA4416957	364	A>T		No	ESP ExAC gnomAD ClinGen
CA368715438 rs1284555573	364	A>V		No	ClinGen gnomAD
rs1202181910 CA368715433	365	L>R		No	ClinGen gnomAD
rs1563341855 CA918091310	368	Y>*		No	Ensembl ClinGen
CA4416956 rs778037217	368	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA4416953 rs767899759	369	G>E		No	ClinGen ExAC TOPMed gnomAD
rs752866619 CA4416954	369	G>R		No	ClinGen ExAC TOPMed gnomAD
CA368715362 rs1371743032	370	L>F		No	gnomAD ClinGen
rs570214361 CA4416951	372	A>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs766892473 CA4416950	373	E>D		No	ExAC gnomAD ClinGen
CA368715327 rs1170235381	373	E>K		No	ClinGen TOPMed
CA368715325 rs1170235381	373	E>Q		No	TOPMed ClinGen
CA368715298 rs1475993368	375	F>I		No	gnomAD ClinGen
CA368715297 rs1475993368	375	F>V		No	ClinGen gnomAD
TCGA novel	376	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	377	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4416947 rs144532716	378	L>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs1324404023 CA368715224	379	K>R		No	ClinGen TOPMed
rs3181008 CA163449249	380	H>R		No	gnomAD ClinGen
CA4416946 rs760429629	381	G>A		No	ClinGen ExAC gnomAD
CA368715186 rs1375808796	382	E>K		No	gnomAD ClinGen
CA163449229 rs375122976	384	R>K		No	ESP TOPMed gnomAD ClinGen
CA368715155 rs1563341674	384	R>S		No	Ensembl ClinGen
rs201063225 CA163449224	385	Y>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA368715129 rs1297014929	387	N>H		No	ClinGen TOPMed
CA368715117 rs1234843482	388	N>D		No	ClinGen gnomAD
TCGA novel	388	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA163449216 rs999368607	388	N>T		No	ClinGen Ensembl
rs3181009 CA368715094	389	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4416944 VAR_038694 rs3181009	389	D>N	almost no change in activity [UniProt]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs770900050 CA4416941	390	D>E		No	ExAC TOPMed gnomAD ClinGen
CA368715063 rs1409404974	390	D>G		No	ClinGen gnomAD
COSM1312542 CA4416942 rs145478769	390	D>N	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1010853566 CA368714998	393	F>L		No	TOPMed gnomAD ClinGen
CA576934777 rs1463307834	393	F>L		No	TOPMed gnomAD ClinGen
rs749411728 CA4416940	393	F>V		No	ExAC gnomAD ClinGen
rs895062204 CA368714996	394	F>K		No	ClinGen TOPMed gnomAD
CA163449163 rs895062204	394	F>Q		No	TOPMed gnomAD ClinGen

No associated diseases with Q6IQ20

1 regional properties for Q6IQ20

Type	Name	Position	InterPro Accession
domain	Metallo-beta-lactamase	144 - 344	IPR001279

Functions

		Description
EC Number	3.1.4.54	Phosphoric diester hydrolases
Subcellular Localization	Golgi apparatus membrane ; Peripheral membrane protein Early endosome membrane ; Peripheral membrane protein Nucleus envelope Nucleus, nucleoplasm	Localized in the proximity of the cellular membranes likely through interaction with membrane phospholipids
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
early endosome membrane	The lipid bilayer surrounding an early endosome.
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.
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.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nuclear envelope	The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
photoreceptor outer segment membrane	The membrane surrounding the outer segment of a vertebrate photoreceptor.

5 GO annotations of molecular function

Name	Definition
bile acid binding	Binding to a bile acid, a steroid carboxylic acids occurring in bile.
identical protein binding	Binding to an identical protein or proteins.
N-acetylphosphatidylethanolamine-hydrolysing phospholipase activity	Catalysis of the reaction: H2O + an N-acylphosphatidylethanolamine = H+ + an N-acylethanolamine + a 1,2-diacyl-sn-glycerol 3-phosphate.
N-acylphosphatidylethanolamine-specific phospholipase D activity	Catalysis of the release of N-acylethanolamine from N-acyl-phosphatidylethanolamine (NAPE) to generate N-acylethanolamine (NAE).
zinc ion binding	Binding to a zinc ion (Zn).

8 GO annotations of biological process

Name	Definition
host-mediated regulation of intestinal microbiota composition	The biological process involved in maintaining the steady-state number of cells within a population of free-living cells such as the bacteria in the gut.
N-acylethanolamine metabolic process	The chemical reactions and pathways involving N-acylethanolamines. An N-acylethanolamine is an ethanolamine substituted at nitrogen by an acyl group.
N-acylphosphatidylethanolamine metabolic process	The chemical reactions and pathways involving N-acylphosphatidylethanolamines. An N-acylphosphatidylethanolamine is a phosphatidylethanolamine substituted at nitrogen by an acyl group.
phospholipid catabolic process	The chemical reactions and pathways resulting in the breakdown of phospholipids, any lipid containing phosphoric acid as a mono- or diester.
positive regulation of brown fat cell differentiation	Any process that increases the rate, frequency, or extent of brown fat cell differentiation. Brown fat cell differentiation is the process in which a relatively unspecialized cell acquires specialized features of a brown adipocyte, an animal connective tissue cell involved in adaptive thermogenesis. Brown adipocytes contain multiple small droplets of triglycerides and a high number of mitochondria.
positive regulation of inflammatory response	Any process that activates or increases the frequency, rate or extent of the inflammatory response.
retinoid metabolic process	The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity.
temperature homeostasis	A homeostatic process in which an organism modulates its internal body temperature.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q02883	FMP30	N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D, mitochondrial	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q58CN9	NAPEPLD	N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D	Bos taurus (Bovine)	PR
Q8BH82	Napepld	N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D	Mus musculus (Mouse)	PR
Q769K2	Napepld	N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MDENESNQSL	MTSSQYPKEA	VRKRQNSARN	SGASDSSRFS	RKSFKLDYRL	EEDVTKSKKG
70	80	90	100	110	120
KDGRFVNPWP	TWKNPSIPNV	LRWLIMEKDH	SSVPSSKEEL	DKELPVLKPY	FITNPEEAGV
130	140	150	160	170	180
REAGLRVTWL	GHATVMVEMD	ELIFLTDPIF	SSRASPSQYM	GPKRFRRSPC	TISELPPIDA
190	200	210	220	230	240
VLISHNHYDH	LDYNSVIALN	ERFGNELRWF	VPLGLLDWMQ	KCGCENVIEL	DWWEENCVPG
250	260	270	280	290	300
HDKVTFVFTP	SQHWCKRTLM	DDNKVLWGSW	SVLGPWNRFF	FAGDTGYCPA	FEEIGKRFGP
310	320	330	340	350	360
FDLAAIPIGA	YEPRWFMKYQ	HVDPEEAVRI	HTDVQTKKSM	AIHWGTFALA	NEHYLEPPVK
370	380	390
LNEALERYGL	NAEDFFVLKH	GESRYLNNDD	ENF