AiPD: Autoinhibited Protein Database

Q14642

Gene name	INPP5A
Protein name	Inositol polyphosphate-5-phosphatase A
Names	43 kDa inositol polyphosphate 5-phosphatase, Type I inositol 1,4,5-trisphosphate 5-phosphatase, 5PTase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3632
EC number	3.1.3.56: Phosphoric monoester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

107-176 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

107-176 (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 Q14642

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q14642-F1	Predicted				AlphaFoldDB

265 variants for Q14642

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1370162183 CA378913734	6	A>D		No	ClinGen TOPMed
rs1370162183 CA378913730	6	A>V		No	ClinGen TOPMed
rs764513704 CA5755247	8	P>S		No	ClinGen ExAC TOPMed gnomAD
CA378913765 rs1477627098	9	G>A		No	ClinGen TOPMed
CA378913763 rs1477627098	9	G>D		No	ClinGen TOPMed
CA5755248 rs751836665	9	G>S		No	ClinGen ExAC TOPMed gnomAD
rs757827008 CA5755249	10	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1486457590 CA378913822	15	V>L		No	ClinGen TOPMed
rs1281829994 CA378913922	25	D>Y		No	ClinGen TOPMed
CA378915573 rs1300993179	26	P>S		No	ClinGen gnomAD
rs1396391361 CA378915577	27	E>K		No	ClinGen gnomAD
CA5755271 rs779584545	31	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754683408 CA5755273	35	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5755274 rs754683408	35	R>P		No	ClinGen ExAC TOPMed gnomAD
rs754683408 CA5755275	35	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749800240 CA5755272	35	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs550193976 CA5755276	39	Q>L		No	ClinGen ExAC gnomAD
rs547822867 CA5755298	41	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA216724114 rs925747050	42	H>Q		No	ClinGen TOPMed gnomAD
CA5755300 rs774668350	42	H>R		No	ClinGen ExAC gnomAD
CA5755301 rs748361306	43	T>A		No	ClinGen ExAC TOPMed gnomAD
rs568304990 CA5755302	43	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA5755303 rs568304990	43	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1405666576 CA378759910	44	H>Q		No	ClinGen gnomAD
rs200768082 CA216724159	45	K>N		No	ClinGen 1000Genomes
VAR_034006 CA5755305 rs1133400	45	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	47	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764610723 CA5755308	49	M>V		No	ClinGen ExAC gnomAD
rs1321522590 CA378760008	50	A>V		No	ClinGen gnomAD
rs1270142448 CA378760045	52	H>R		No	ClinGen TOPMed
CA5755309 rs752218319	56	F>C		No	ClinGen ExAC gnomAD
rs917033886 CA216724187	56	F>L		No	ClinGen TOPMed
CA5755311 rs370327452	59	K>E		No	ClinGen ESP ExAC gnomAD
rs112550433 CA5755312	60	N>S		No	ClinGen ExAC
CA378760256 rs1473493335	62	E>K		No	ClinGen gnomAD
CA216724213 rs199515031	63	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5755314 rs199515031	63	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750348436 CA5755315	65	M>T		No	ClinGen ExAC TOPMed gnomAD
rs144774890 CA5755317	68	V>M		No	ClinGen ESP ExAC TOPMed
rs1408131806 CA378760408	69	D>G		No	ClinGen TOPMed
rs748249912 CA5755318	70	K>M		No	ClinGen ExAC TOPMed gnomAD
rs747952207 CA5755320	72	V>I		No	ClinGen ExAC TOPMed gnomAD
CA378760475 rs1431571780	73	K>Q		No	ClinGen TOPMed
CA216724275 rs140099082	73	K>R		No	ClinGen ESP gnomAD
CA378761637 rs1442695472	76	L>S		No	ClinGen TOPMed
rs144055417 CA216727734	77	S>L		No	ClinGen ESP TOPMed gnomAD
rs766031019 COSM537893 CA216727738	78	S>I	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA216727740 rs751524528	80	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA378761710 rs1590894881	81	M>I		No	ClinGen Ensembl
CA378761700 rs1205502333	81	M>V		No	ClinGen TOPMed gnomAD
rs762379820 CA5755344	83	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5755343 rs775995236	83	E>K		No	ClinGen ExAC TOPMed gnomAD
rs768160475 CA5755345	84	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5755347 rs761609868	86	R>T		No	ClinGen ExAC gnomAD
CA378761812 rs1168632920	88	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1564949286 CA378761818	89	V>I		No	ClinGen Ensembl
rs1424554019 CA378761845	90	Y>*		No	ClinGen gnomAD
CA5755348 rs767268328	92	D>E		No	ClinGen ExAC gnomAD
rs141069893 CA5755349	95	Y>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA378761916 rs141069893	95	Y>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA378761948 rs1483019401	96	K>N		No	ClinGen TOPMed
CA378761943 rs1180734811	96	K>R		No	ClinGen TOPMed
rs760451903 CA5755350	97	S>Y		No	ClinGen ExAC gnomAD
rs766241565 CA5755351	98	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA378761970 rs766241565	98	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA5755352 rs753761378	99	E>D		No	ClinGen ExAC gnomAD
CA5755381 rs780519261	106	S>N		No	ClinGen ExAC gnomAD
CA5755382 rs749606643	107	F>L		No	ClinGen ExAC gnomAD
CA216737606 rs139560673	108	Y>F		No	ClinGen Ensembl
CA5755385 rs747674907	113	S>F		No	ClinGen ExAC gnomAD
CA5755387 rs772772860	114	L>S		No	ClinGen ExAC gnomAD
rs1283802896 CA378756467	115	K>E		No	ClinGen gnomAD
CA216737621 rs1040887173	115	K>R		No	ClinGen Ensembl
rs746716740 CA5755388	116	N>S		No	ClinGen ExAC TOPMed gnomAD
rs776545394 CA378756514	117	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1482790424 CA378756523	118	Y>H		No	ClinGen gnomAD
rs765164143 CA5755392	120	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1358742176 CA378756595	122	F>L		No	ClinGen TOPMed
rs760014719 CA5755417	125	K>R		No	ClinGen ExAC gnomAD
TCGA novel	128	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378757353 rs1376578453	130	V>I		No	ClinGen TOPMed
CA5755419 rs142268843	131	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5755418 rs142268843	131	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5755420 rs114353064	131	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778135953 CA5755421	137	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1049684899 CA216741126	138	D>G		No	ClinGen TOPMed
CA216741144 rs1005386902	142	S>I		No	ClinGen Ensembl
rs139296617 CA5755424	143	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5755426 rs769404530	144	P>L		No	ClinGen ExAC gnomAD
rs1198901899 CA378757553	144	P>S		No	ClinGen TOPMed
rs749079166 CA5755428	145	M>T		No	ClinGen ExAC TOPMed gnomAD
CA216741161 rs150016201	149	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150016201 CA5755429	149	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5755430 rs376592087	152	P>L		No	ClinGen ESP ExAC gnomAD
CA378757720 rs1217461588	155	Y>H		No	ClinGen gnomAD
rs1228547391 CA378757745	158	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	163	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	164	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745936272 CA5755451	165	G>A		No	ClinGen ExAC gnomAD
rs374675950 CA5755452	167	I>V		No	ClinGen ESP ExAC gnomAD
rs763394017 CA5755454	168	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775793924 CA5755453	168	R>W		No	ClinGen ExAC gnomAD
rs1398291918 CA378760284	169	T>M		No	ClinGen TOPMed
rs141017103 CA5755456	170	R>K		No	ClinGen ESP ExAC gnomAD
CA378760375 rs1170346792	173	I>M		No	ClinGen gnomAD
CA378760361 rs1425438568	173	I>V		No	ClinGen gnomAD
rs368149106 CA378760419	175	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA378760435 rs1444999045	176	C>F		No	ClinGen gnomAD
CA378761166 rs1444013180	177	A>T		No	ClinGen TOPMed
TCGA novel	180	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378761210 rs1314055430	183	I>V		No	ClinGen gnomAD
CA5755573 rs764196463	193	V>I		No	ClinGen ExAC gnomAD
TCGA novel	194	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201458514 CA5755576	201	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5755575 rs201458514	201	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5755577 rs146448264	202	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA378761370 rs1313471759	203	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA216752337 rs200505099	207	H>R		No	ClinGen 1000Genomes
CA378761501 rs1462329608	213	V>M		No	ClinGen gnomAD
rs1564976067 CA378761529	215	D>G		No	ClinGen Ensembl
rs1240773521 CA378765986	217	I>V		No	ClinGen gnomAD
CA216758183 rs368503613	219	D>E		No	ClinGen ESP
CA378766021 rs1220129271	219	D>H		No	ClinGen gnomAD
rs140446601 CA5755618 COSM916370	221	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs554890216 CA5755620	222	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5755621 rs933800878	223	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs933800878 CA378766162	223	E>Q		No	ClinGen TOPMed
CA378766191 rs1176346587	224	K>R		No	ClinGen gnomAD
rs1478280716 CA378766244	226	S>C		No	ClinGen TOPMed
CA5755624 rs753108691	228	F>L		No	ClinGen ExAC gnomAD
rs758903626 CA5755625 CA216758212	229	V>L		No	ClinGen ExAC TOPMed gnomAD
CA378766341 rs1453539431	230	F>C		No	ClinGen TOPMed
rs965436593 CA216758223	236	R>Q		No	ClinGen Ensembl
rs1238614232 CA378766569	236	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs371562189 CA5755627	237	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs780754916 CA216758230	239	S>A		No	ClinGen ExAC TOPMed gnomAD
rs780754916 CA5755629	239	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1437810526 CA378766679	239	S>Y		No	ClinGen gnomAD
rs374850059 COSM1733183 CA5755631	242	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA216758250 rs1048221979	243	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs746139002	245	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5755655 rs781394994	245	T>A		No	ClinGen ExAC gnomAD
rs1199108796 CA378773307	245	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1384409358 CA378773317	247	C>Y		No	ClinGen TOPMed
CA5755659 rs763308194	249	K>T		No	ClinGen ExAC TOPMed gnomAD
rs769055924 CA5755660	251	T>A		No	ClinGen ExAC gnomAD
CA5755661 rs774788657	251	T>I		No	ClinGen ExAC gnomAD
CA378773366 rs1418072988	254	T>M		No	ClinGen TOPMed gnomAD
rs1171768739 CA378773368	255	V>I		No	ClinGen gnomAD
rs767053025 CA5755663	256	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA216766468 rs184837619	256	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
rs1186006318 CA378773377	257	A>T		No	ClinGen TOPMed
rs150116834 CA5755667	258	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1564998012 CA378773392	259	D>A		No	ClinGen Ensembl
rs752726044 CA5755670	259	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781476790 CA5755672	261	N>S		No	ClinGen ExAC TOPMed gnomAD
CA378773408 rs1217669601	262	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1246292591 CA378773422	264	V>M		No	ClinGen TOPMed
rs138441487 CA5755673	267	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5755674 rs375440993	269	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA216766475 rs201167385	269	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA216766476 rs201167385	269	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA5755675 rs201214747	271	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774667640 CA5755678	272	D>G		No	ClinGen ExAC gnomAD
CA5755680 COSM916374 rs147362550	274	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5755681 rs372793753	275	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs200837473 CA216766478	275	R>W		No	ClinGen TOPMed gnomAD
rs747603691 CA5755719	277	V>I		No	ClinGen ExAC gnomAD
rs1182381974 CA378773639 COSM916376	283	K>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5755720 rs771333006	285	L>R		No	ClinGen ExAC gnomAD
CA378773675 rs1163815473	286	F>L		No	ClinGen gnomAD
CA5755723 rs144665059	287	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5755722 rs144665059	287	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA216766517 rs999580872	288	Y>C		No	ClinGen TOPMed
rs1402639161 CA378773766	291	Q>R		No	ClinGen gnomAD
rs1314409989 CA378773804	293	V>G		No	ClinGen gnomAD
rs762870795 CA5755725	294	F>L		No	ClinGen ExAC gnomAD
CA5755726 rs768610955	295	R>*		No	ClinGen ExAC gnomAD
CA216766521 rs894043107	295	R>Q		No	ClinGen TOPMed gnomAD
rs1339136588 CA378773854	297	N>D		No	ClinGen gnomAD
CA216766523 rs1012457860	297	N>S		No	ClinGen TOPMed gnomAD
rs569271876 CA378773880 COSM683946	298	N>K	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs148511338 CA5755727	298	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA378773905 rs1202678834	300	T>I		No	ClinGen gnomAD
CA378773901 rs1202678834	300	T>N		No	ClinGen gnomAD
rs142848612	301	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs767291582 CA5755729	301	A>T		No	ClinGen ExAC gnomAD
rs201478396 CA5755730	301	A>V		No	ClinGen ExAC TOPMed gnomAD
CA378762004 rs1173185462	302	L>V		No	ClinGen gnomAD
rs1179573580 CA378762086	305	F>S		No	ClinGen Ensembl
CA5755757 rs376790367	307	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	312	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748802952 CA5755761	312	F>S		No	ClinGen ExAC gnomAD
TCGA novel	313	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1233545398 CA378762303	316	L>P		No	ClinGen gnomAD
rs1259588089 CA378762321	317	Y>C		No	ClinGen gnomAD
CA5755763 rs778381373	320	D>N		No	ClinGen ExAC gnomAD
CA5755764 rs748008299	321	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5755766 rs143365130	322	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378762424 rs1444315212	323	F>L		No	ClinGen gnomAD
rs775555586 CA5755769	324	P>T		No	ClinGen ExAC gnomAD
CA378763800 rs1591008548	327	Y>S		No	ClinGen Ensembl
rs777345800 CA5755801	328	P>R		No	ClinGen ExAC gnomAD
rs200519880 CA5755804	330	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs576088004 CA378763897	333	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5755806 rs576088004 COSM1346880	333	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs150382081 CA5755808	334	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5755809 rs1054655	334	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA216756040 rs1010070730	340	M>V		No	ClinGen Ensembl
CA5755810 rs561489346	341	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs760947135 CA5755811	342	T>S		No	ClinGen ExAC gnomAD
CA378764072 COSM1297092 rs1305513647	350	R>H	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA216756047 rs901603906	352	L>V		No	ClinGen Ensembl
CA216756050 rs932918454	353	M>L		No	ClinGen TOPMed
TCGA novel	354	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144872020 CA5755815	355	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378764104 rs144872020	355	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378764122 rs1274049327	358	K>R		No	ClinGen gnomAD
rs1441912942 CA378764126	359	E>K		No	ClinGen gnomAD
rs1208028415 CA378764129	359	E>V		No	ClinGen gnomAD
CA5755818 rs763770976	361	V>M		No	ClinGen ExAC
CA378764151 rs781024908	363	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5755821 rs781024908	363	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5755820 rs149034124	363	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs573233283	364	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA216757367 rs966927613	364	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1379142568 CA378765539	365	E>D		No	ClinGen TOPMed
rs978271181 CA216757368	366	S>G		No	ClinGen TOPMed
CA378765545 rs1354679602	366	S>N		No	ClinGen gnomAD
CA216757371 rs958145264	367	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5755853 rs749855094	369	K>E		No	ClinGen ExAC gnomAD
rs1437966186 CA378765609	370	V>A		No	ClinGen gnomAD
CA378765603 rs1239445084	370	V>I		No	ClinGen TOPMed gnomAD
CA378765604 rs1239445084	370	V>L		No	ClinGen TOPMed gnomAD
CA216757379 rs990933528	372	T>I		No	ClinGen TOPMed gnomAD
rs1422693071 CA378765667	375	H>R		No	ClinGen TOPMed
CA378765674 rs1357720998	376	I>T		No	ClinGen TOPMed gnomAD
TCGA novel	377	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378765683 rs1186747291	377	G>R		No	ClinGen gnomAD
rs1484818377 CA378765695	378	P>S		No	ClinGen TOPMed
rs372404909 CA5755854	379	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs550602072 CA5755856	380	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378765720 rs550602072	380	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1212126269 CA378765743	381	C>F		No	ClinGen gnomAD
CA378765771 rs1422699145	382	M>I		No	ClinGen gnomAD
CA378765790 rs1284436839	384	D>N		No	ClinGen gnomAD
rs1565017607 CA378766098	388	V>M		No	ClinGen Ensembl
rs1195507129 CA378766181	391	A>V		No	ClinGen gnomAD
COSM1648625 COSM537888 CA5755889 rs201882680	393	R>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5755890 rs201882680	393	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1346882 rs374027590 CA216757990	393	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs1198472298 CA378766228	394	I>V		No	ClinGen gnomAD
CA5755891 rs367623760	395	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5755892 rs145146330	396	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1418430958 CA378766325	397	G>A		No	ClinGen gnomAD
rs1360382562 CA378766320	397	G>R		No	ClinGen TOPMed gnomAD
rs1434394445 CA378766342	399	G>S		No	ClinGen TOPMed
rs1381124466 CA378766385	401	P>S		No	ClinGen TOPMed
CA5755894 rs777339628	402	H>R		No	ClinGen ExAC TOPMed gnomAD
rs746443823 CA5755895	403	A>P		No	ClinGen ExAC gnomAD
CA378766499 rs1298817453	404	H>R		No	ClinGen TOPMed gnomAD
rs759229536 CA5755898	405	V>M		No	ClinGen ExAC gnomAD
rs1565017690 CA378766675	411	V>E		No	ClinGen Ensembl
CA5755903 rs200256899	411	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	412	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q14642

1 regional properties for Q14642

Type	Name	Position	InterPro Accession
domain	Izumo protein, immunoglobulin domain	168 - 255	IPR032699

Functions

		Description
EC Number	3.1.3.56	Phosphoric monoester hydrolases
Subcellular Localization	Cell membrane ; Lipid-anchor Cell projection, dendrite
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	Catalysis of the reaction: 1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate.
inositol-1,4,5-trisphosphate 5-phosphatase activity	Catalysis of the reaction: 1D-myo-inositol 1,4,5-trisphosphate + H2O = 1D-myo-inositol 1,4-bisphosphate + phosphate.
inositol-polyphosphate 5-phosphatase activity	Catalysis of the reactions: D-myo-inositol 1,4,5-trisphosphate + H2O = myo-inositol 1,4-bisphosphate + phosphate, and 1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate.
PH domain binding	Binding to a PH domain (pleckstrin homology) of a protein, a domain of about 100 residues that occurs in a wide range of proteins involved in intracellular signaling or as constituents of the cytoskeleton.

5 GO annotations of biological process

Name	Definition
inositol phosphate dephosphorylation	The process of removing a phosphate group from any mono- or polyphosphorylated inositol.
inositol phosphate metabolic process	The chemical reactions and pathways involving inositol phosphate, 1,2,3,4,5,6-cyclohexanehexol, with one or more phosphate groups attached.
inositol phosphate-mediated signaling	A intracellular signal transduction in which the signal is transmitted within the cell via an inositol phosphate. Includes production of the inositol phosphate, and downstream effectors that further transmit the signal within the cell. Inositol phosphates are a group of mono- to poly-phosphorylated inositols, and include inositol monophosphate (IP), inositol trisphosphate (IP3), inositol pentakisphosphate (IP5) and inositol hexaphosphate (IP6).
negative regulation of neuron death	Any process that stops, prevents or reduces the frequency, rate or extent of neuron death.
phosphatidylinositol dephosphorylation	The process of removing one or more phosphate groups from a phosphatidylinositol.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q17848	ipp-5	Probable type I inositol 1,4,5-trisphosphate 5-phosphatase	Caenorhabditis elegans	PR

10	20	30	40	50	60
MAGKAAAPGT	AVLLVTANVG	SLFDDPENLQ	KNWLREFYQV	VHTHKPHFMA	LHCQEFGGKN
70	80	90	100	110	120
YEASMSHVDK	FVKELLSSDA	MKEYNRARVY	LDENYKSQEH	FTALGSFYFL	HESLKNIYQF
130	140	150	160	170	180
DFKAKKYRKV	AGKEIYSDTL	ESTPMLEKEK	FPQDYFPECK	WSRKGFIRTR	WCIADCAFDL
190	200	210	220	230	240
VNIHLFHDAS	NLVAWETSPS	VYSGIRHKAL	GYVLDRIIDQ	RFEKVSYFVF	GDFNFRLDSK
250	260	270	280	290	300
SVVETLCTKA	TMQTVRAADT	NEVVKLIFRE	SDNDRKVMLQ	LEKKLFDYFN	QEVFRDNNGT
310	320	330	340	350	360
ALLEFDKELS	VFKDRLYELD	ISFPPSYPYS	EDARQGEQYM	NTRCPAWCDR	ILMSPSAKEL
370	380	390	400	410
VLRSESEEKV	VTYDHIGPNV	CMGDHKPVFL	AFRIMPGAGK	PHAHVHKCCV	VQ