AiPD: Autoinhibited Protein Database

Q5T9C9

Gene name	PIP5KL1
Protein name	Phosphatidylinositol 4-phosphate 5-kinase-like protein 1
Names	PI(4)P 5-kinase-like protein 1, PtdIns(4)P-5-kinase-like protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:138429
EC number	2.7.1.68: Phosphotransferases with an alcohol group as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-168 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-168 (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 Q5T9C9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5T9C9-F1	Predicted				AlphaFoldDB

381 variants for Q5T9C9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA374955507 rs1346429125	2	A>V		No	ClinGen gnomAD
rs1295485438 CA374955491	3	A>P		No	ClinGen TOPMed gnomAD
CA374955503 rs1295485438	3	A>S		No	ClinGen TOPMed gnomAD
CA374955459 rs1330152413	4	P>L		No	ClinGen gnomAD
CA5254611 rs531181161	4	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5254610 rs758991332	5	S>I		No	ClinGen ExAC TOPMed gnomAD
CA374955358 rs1215400124	5	S>R		No	ClinGen TOPMed
rs758991332 CA200266147	5	S>T		No	ClinGen ExAC TOPMed gnomAD
CA5254608 rs753096968	6	P>L		No	ClinGen ExAC gnomAD
CA374955305 rs1192527613	7	G>A		No	ClinGen TOPMed gnomAD
CA374955321 rs1425457215	7	G>R		No	ClinGen TOPMed gnomAD
CA374955228 rs1270940884	9	R>H		No	ClinGen TOPMed
CA200266138 rs867644659	10	E>*		No	ClinGen Ensembl
CA374954994 rs1564139359	11	V>L		No	ClinGen Ensembl
CA374954930 rs1286974615	13	A>G		No	ClinGen TOPMed gnomAD
CA374954926 rs1286974615	13	A>V		No	ClinGen TOPMed gnomAD
rs780910857 CA5254592	15	S>C		No	ClinGen ExAC gnomAD
rs780910857 CA5254593	15	S>F		No	ClinGen ExAC gnomAD
rs1309174760 CA374954755	20	C>*		No	ClinGen gnomAD
rs1173715763 CA374954757	20	C>F		No	ClinGen TOPMed
CA5254591 rs758973210	20	C>G		No	ClinGen ExAC gnomAD
TCGA novel	22	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1430885718 CA374954688	24	T>A		No	ClinGen TOPMed
CA374954691 rs1430885718	24	T>P		No	ClinGen TOPMed
CA374954587 rs1301524626	26	S>N		No	ClinGen gnomAD
CA374954570 rs779317038	27	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1170127945 CA374954569	27	R>Q		No	ClinGen TOPMed
rs779317038 CA5254589	27	R>W		No	ClinGen ExAC TOPMed gnomAD
CA374954552 rs755255034	28	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5254588 rs755255034	28	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA374954553 rs1216240109	28	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1345513001 CA374954519	29	G>E		No	ClinGen TOPMed
CA374954499 rs1588686389	30	L>V		No	ClinGen Ensembl
CA200265884 rs748809379	32	W>C		No	ClinGen Ensembl
rs754231608 CA374954415	33	R>C		No	ClinGen ExAC gnomAD
rs1285289036 CA374954409	33	R>H		No	ClinGen TOPMed
CA374954402 rs1285289036	33	R>L		No	ClinGen TOPMed
rs754231608 CA5254587	33	R>S		No	ClinGen ExAC gnomAD
CA374954371 rs1177948705	34	L>F		No	ClinGen gnomAD
rs750496758 CA5254584	35	R>*		No	ClinGen ExAC gnomAD
CA5254585 rs750496758	35	R>G		No	ClinGen ExAC gnomAD
CA5254583 rs767621427	35	R>Q		No	ClinGen ExAC gnomAD
rs1179944133 CA374954201	38	Q>*		No	ClinGen gnomAD
CA5254582 rs377179152	38	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371918775 CA200265876	39	S>F		No	ClinGen Ensembl
CA5254581 rs774107959	40	R>C		No	ClinGen ExAC TOPMed gnomAD
CA374954089 rs774107959	40	R>G		No	ClinGen ExAC TOPMed gnomAD
CA374954050 rs1218982601	40	R>H		No	ClinGen gnomAD
TCGA novel	40	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1588686353 CA374954013	41	L>P		No	ClinGen Ensembl
rs372457043 CA200265873	44	F>S		No	ClinGen ESP TOPMed
rs200551826 CA5254579	45	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5254580 rs764125709	45	E>V		No	ClinGen ExAC gnomAD
CA5254578 rs775440309	46	I>V		No	ClinGen ExAC gnomAD
rs374224548 CA5254577	47	S>G		No	ClinGen ESP ExAC gnomAD
rs528683797 CA5254575	48	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528683797 CA5254576	48	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374953777 rs1252441635	48	P>S		No	ClinGen TOPMed
rs747560528 CA200265865	49	G>V		No	ClinGen TOPMed gnomAD
CA200265863 rs896522481	50	H>L		No	ClinGen gnomAD
CA374953713 rs1564139220	50	H>N		No	ClinGen Ensembl
rs746557262 CA5254573	51	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1002432772 CA200265856	55	M>L		No	ClinGen Ensembl
rs370886811 CA374953493	56	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5254572 rs370886811	56	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1370174932 CA374953444	58	M>V		No	ClinGen gnomAD
CA200265851 rs1027809156	64	W>*		No	ClinGen TOPMed
rs769215076 CA5254571	66	A>S		No	ClinGen ExAC gnomAD
rs769215076 CA200265828	66	A>T		No	ClinGen ExAC gnomAD
rs1423996000 CA374953135	67	T>A		No	ClinGen TOPMed gnomAD
CA374953103 rs1487467289	68	Q>H		No	ClinGen gnomAD
rs931032263 CA200265821	68	Q>K		No	ClinGen gnomAD
TCGA novel	69	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749598860 CA374953015	71	M>L		No	ClinGen ExAC gnomAD
CA5254570 rs749598860	71	M>V		No	ClinGen ExAC gnomAD
CA5254569 rs780462724	73	H>N		No	ClinGen ExAC TOPMed gnomAD
CA5254566 rs750692011	75	P>R		No	ClinGen ExAC gnomAD
rs1264232565 CA374952873	75	P>S		No	ClinGen gnomAD
CA374952851 rs1319053528	76	T>M		No	ClinGen gnomAD
rs770094165 CA5254548	78	P>L		No	ClinGen ExAC TOPMed gnomAD
rs781205907 CA5254546	79	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751579467 CA5254544	81	R>P		No	ClinGen ExAC TOPMed gnomAD
rs751579467 CA374951737	81	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs757517483 CA5254545	81	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1330783901 CA374951715	82	D>G		No	ClinGen TOPMed
rs1265777911 CA374951732	82	D>N		No	ClinGen TOPMed
rs1198300037 CA374951699	83	D>N		No	ClinGen gnomAD
CA374951630 rs1440375258	84	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs373343436 COSM1319660 CA5254543	85	S>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA374951540 rs1457607014	89	T>I		No	ClinGen gnomAD
rs1457607014 CA374951541	89	T>S		No	ClinGen gnomAD
rs1279847955 CA374951442	91	V>A		No	ClinGen TOPMed gnomAD
CA5254540 rs765292368	92	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1400781557 CA374951260	94	G>D		No	ClinGen gnomAD
rs758507173 CA200265527	95	F>L		No	ClinGen ExAC TOPMed gnomAD
CA374951224 rs1400166775	96	E>D		No	ClinGen TOPMed gnomAD
CA374951243 rs1296461943	96	E>K		No	ClinGen TOPMed gnomAD
rs1165463810 CA374951181	99	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA374951192 rs1588685555	99	T>P		No	ClinGen Ensembl
CA5254523 rs748273607	100	L>P		No	ClinGen ExAC TOPMed gnomAD
rs145746463 CA5254522	101	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1488451101 CA374951146	102	G>C		No	ClinGen TOPMed gnomAD
CA374951129 rs1488451101	102	G>S		No	ClinGen TOPMed gnomAD
rs895432217 CA200265515	102	G>V		No	ClinGen TOPMed
rs1055192605 CA374951100	103	P>A		No	ClinGen TOPMed gnomAD
rs1055192605 CA200265513	103	P>S		No	ClinGen TOPMed gnomAD
rs566318159 CA5254520	104	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA5254521 rs755020185	104	A>S		No	ClinGen ExAC gnomAD
CA374951087 rs755020185	104	A>T		No	ClinGen ExAC gnomAD
CA374951020 rs1290549496	106	A>V		No	ClinGen TOPMed gnomAD
CA374950972 rs1490434061	107	W>C		No	ClinGen gnomAD
rs1229898234 CA374950968	108	L>M		No	ClinGen TOPMed gnomAD
CA200265510 rs369774242	110	R>C		No	ClinGen TOPMed gnomAD
CA374950922 rs369774242	110	R>G		No	ClinGen TOPMed gnomAD
CA374950910 rs1292516026	110	R>L		No	ClinGen gnomAD
CA374950923 rs369774242	110	R>S		No	ClinGen TOPMed gnomAD
CA200265508 rs113250553	115	A>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1218977184 CA374950829	115	A>S		No	ClinGen gnomAD
CA5254519 rs113250553	115	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs755698498 CA5254518	116	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5254517 rs539186355	117	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767105771 CA5254516	119	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs377392653 CA5254515	120	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5254514 rs773865466	120	Q>H		No	ClinGen ExAC gnomAD
rs377392653 CA374950677	120	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5254513 rs765722586	121	A>T		No	ClinGen ExAC gnomAD
rs1425356790 CA374950607	122	A>V		No	ClinGen gnomAD
rs1588685487 CA374950564	124	G>D		No	ClinGen Ensembl
rs771378451 CA5254510	125	P>H		No	ClinGen ExAC gnomAD
rs771378451 CA200265498	125	P>L		No	ClinGen ExAC gnomAD
rs776833012 CA5254511	125	P>T		No	ClinGen ExAC TOPMed gnomAD
rs747359677 CA5254509	126	G>C		No	ClinGen ExAC TOPMed gnomAD
rs747359677 CA374950549	126	G>R		No	ClinGen ExAC TOPMed gnomAD
rs772432808 CA5254508	127	G>C		No	ClinGen ExAC TOPMed gnomAD
CA5254507 rs772432808	127	G>S		No	ClinGen ExAC TOPMed gnomAD
CA374950450 rs1199059555	128	P>S		No	ClinGen gnomAD
rs369606695 CA200265492	129	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1322993144 CA374950417	129	Y>C		No	ClinGen TOPMed
CA374950370 rs1276545638	130	L>P		No	ClinGen gnomAD
rs779198052 CA5254505	131	Q>H		No	ClinGen ExAC gnomAD
CA5254504 rs549841472	133	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs549841472 CA374950280	133	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1434358371 CA374950267	134	S>N		No	ClinGen gnomAD
rs149723072 CA5254503	137	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs954580549 CA200265484	138	S>I		No	ClinGen TOPMed
CA374950103 rs1332576648	140	A>D		No	ClinGen gnomAD
CA374950015 rs1467543855	143	F>I		No	ClinGen gnomAD
rs755899147 CA5254501	144	L>Q		No	ClinGen ExAC gnomAD
rs755899147 CA200265481	144	L>R		No	ClinGen ExAC gnomAD
CA374949947 rs750189784	145	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5254500 rs750189784	145	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1441541689 CA374949859	146	H>Y		No	ClinGen gnomAD
rs1025033529 CA200265391	147	D>A		No	ClinGen TOPMed gnomAD
CA374949810 rs1025033529	147	D>G		No	ClinGen TOPMed gnomAD
rs773502995 CA5254490	148	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA200265389 rs947524557	149	R>H		No	ClinGen TOPMed gnomAD
rs865910678 CA200265386	152	L>P		No	ClinGen Ensembl
rs879016660 CA200265384	154	T>I		No	ClinGen Ensembl
CA374949643 rs1208921204	154	T>S		No	ClinGen gnomAD
CA374949618 rs1564138373	155	Q>*		No	ClinGen Ensembl
rs1251099752 CA374949581	156	G>R		No	ClinGen gnomAD
CA374949546 rs762163842	158	R>*		No	ClinGen ExAC TOPMed gnomAD
CA5254488 rs762163842	158	R>G		No	ClinGen ExAC TOPMed gnomAD
CA374949499 rs1242406861	160	V>E		No	ClinGen gnomAD
CA374949488 rs1588685278	161	Q>R		No	ClinGen Ensembl
CA374949446 rs1315708417	162	A>D		No	ClinGen TOPMed gnomAD
CA374949454 rs1315708417	162	A>V		No	ClinGen TOPMed gnomAD
CA374949407 rs1304240186	164	L>F		No	ClinGen TOPMed gnomAD
rs1374470512 CA374949366	165	A>S		No	ClinGen gnomAD
CA374949349 rs1298322498	166	H>D		No	ClinGen gnomAD
CA374949336 rs1420962361	166	H>P		No	ClinGen gnomAD
CA374949331 rs1420962361	166	H>R		No	ClinGen gnomAD
CA5254485 rs199785814	168	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1424182239 CA374949278	169	R>G		No	ClinGen gnomAD
rs1203901738 CA374949274	169	R>H		No	ClinGen gnomAD
rs1415624819 CA374949254	170	Y>C		No	ClinGen gnomAD
CA374949231 rs1215767295	171	V>L		No	ClinGen TOPMed
rs1185518096 CA374949158	174	L>M		No	ClinGen gnomAD
rs988287361 CA200265377	175	Q>R		No	ClinGen TOPMed
CA374949021 rs1588685226	179	H>P		No	ClinGen Ensembl
rs1218911979 CA374948969	180	S>L		No	ClinGen gnomAD
rs1564138319 CA374948963	181	L>V		No	ClinGen Ensembl
CA5254484 rs779974486	182	L>P		No	ClinGen ExAC gnomAD
CA374948861 rs1233023476	186	L>Q		No	ClinGen gnomAD
CA374948849 rs1034608342	187	G>*		No	ClinGen gnomAD
CA200265370 rs1034608342	187	G>R		No	ClinGen gnomAD
rs900280406 CA200265320	191	L>R		No	ClinGen TOPMed gnomAD
CA5254475 rs752156374	192	R>L		No	ClinGen ExAC
rs766892484 CA5254474	194	D>H		No	ClinGen ExAC gnomAD
TCGA novel	194	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768040970 CA200265312	197	K>N		No	ClinGen ExAC TOPMed gnomAD
CA200265283 rs973696274 CA200265281	200	Y>*		No	ClinGen TOPMed
CA5254450 rs369220019	200	Y>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs764364952 CA5254449	202	I>T		No	ClinGen ExAC TOPMed gnomAD
CA374948220 rs1420365909	203	V>I		No	ClinGen gnomAD
CA374948192 rs1157304889	204	M>T		No	ClinGen gnomAD
rs1469970247 CA374948179	205	Q>K		No	ClinGen gnomAD
rs775610935 CA5254447	208	F>V		No	ClinGen ExAC gnomAD
rs925781754 CA200265276	209	Y>S		No	ClinGen Ensembl
rs765285168 CA5254446	210	P>S		No	ClinGen ExAC gnomAD
rs770862697 CA5254443	212	G>C		No	ClinGen ExAC gnomAD
rs770862697 CA374948068	212	G>R		No	ClinGen ExAC gnomAD
CA5254442 rs746753736	213	R>G		No	ClinGen ExAC
rs1564138029 CA374948051	213	R>L		No	ClinGen Ensembl
rs771721727 CA5254441	214	I>F		No	ClinGen ExAC gnomAD
CA5254440 rs771721727	214	I>V		No	ClinGen ExAC gnomAD
CA5254437 rs754403835	216	E>K		No	ClinGen ExAC
rs1410222130 CA374947025	218	Y>C		No	ClinGen gnomAD
CA374947029 rs1410222130	218	Y>S		No	ClinGen gnomAD
rs1474760246 CA374946928	221	K>R		No	ClinGen gnomAD
CA374946867 rs1311229692	223	C>S		No	ClinGen TOPMed
rs747570323 CA374946860	223	C>W		No	ClinGen ExAC TOPMed gnomAD
rs186163790 CA5254410	224	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1460161 CA374946852 COSM1460160 rs1195377445	224	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1199036246 CA374946742	227	R>C		No	ClinGen gnomAD
COSM3942898 CA5254406 rs199678461 COSM3942897	227	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA5254407 rs199678461	227	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1236778980 COSM371206 CA374946721	228	W>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs766490893 CA5254404	232	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5254403 rs760763860	237	P>L		No	ClinGen ExAC gnomAD
CA5254402 rs750285826	240	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	243	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374946418 rs1588684253	243	K>R		No	ClinGen Ensembl
CA5254401 rs372239536	244	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs774259865 CA5254399	248	Q>E		No	ClinGen ExAC gnomAD
CA374946290 rs768419193	249	G>C		No	ClinGen ExAC TOPMed gnomAD
CA5254398 rs768419193	249	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1395215244 CA374946276	250	K>Q		No	ClinGen gnomAD
rs762735434 CA5254397	251	T>A		No	ClinGen ExAC gnomAD
CA374946170 rs1588684239	254	L>R		No	ClinGen Ensembl
CA5254396 rs775119032	255	G>R		No	ClinGen ExAC gnomAD
CA374945816 rs1455318432	256	P>L		No	ClinGen gnomAD
rs781373082 CA5254366	257	Q>R		No	ClinGen ExAC gnomAD
CA5254365 rs200612848	258	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs758224613 CA5254363	258	R>P		No	ClinGen ExAC TOPMed gnomAD
rs758224613 CA5254362	258	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5254364 rs200612848	258	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA374945746 rs113486049	259	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5254361 rs113486049	259	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200931352 CA5254360	263	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5254359 rs759269054	263	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5254356 rs760111473	265	M>I		No	ClinGen ExAC gnomAD
CA5254357 rs765860433	265	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5254358 rs765860433	265	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1260592684 CA374945610	266	E>Q		No	ClinGen gnomAD
rs1337359355 CA374945572	268	D>G		No	ClinGen TOPMed gnomAD
CA374945570 rs1337359355	268	D>V		No	ClinGen TOPMed gnomAD
CA374945546 rs1274689531	269	T>I		No	ClinGen gnomAD
rs769175704 CA5254354	270	T>I		No	ClinGen ExAC gnomAD
CA5254353 rs145403966	272	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3718723 rs141670007 COSM3718722 CA5254351	273	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5254352 rs775874292	273	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5254350 rs746158922	274	E>Q		No	ClinGen ExAC gnomAD
rs1288147028 CA374945425	276	N>S		No	ClinGen gnomAD
rs374463942 CA200264814	277	V>M		No	ClinGen ESP TOPMed
CA374945370 rs1164706754	279	D>E		No	ClinGen TOPMed
rs1162496934 CA374945376	279	D>G		No	ClinGen gnomAD
rs533712894 CA5254348	279	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs777802660 CA5254346	280	Y>*		No	ClinGen ExAC gnomAD
CA5254347 rs747114885	280	Y>D		No	ClinGen ExAC gnomAD
rs370996347 CA5254345	281	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	281	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765186434 CA5254343	284	I>L		No	ClinGen ExAC gnomAD
rs1470203002 CA374945245	284	I>T		No	ClinGen TOPMed gnomAD
CA374945234 rs1251566541	285	A>G		No	ClinGen gnomAD
rs754747093 CA5254342	286	F>L		No	ClinGen ExAC TOPMed gnomAD
CA200264802 rs902159660	287	Q>H		No	ClinGen TOPMed
CA5254341 rs753467195 COSM1220652 COSM1220653	288	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs147868113 CA5254340	288	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1305213004 CA374945168	289	L>R		No	ClinGen gnomAD
rs774976835 CA5254339	290	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA374945144 rs1234986475	291	E>K		No	ClinGen TOPMed gnomAD
rs1323718652 CA374945111	292	D>E		No	ClinGen gnomAD
CA5254338 rs772760310	292	D>N		No	ClinGen ExAC gnomAD
COSM1193850 CA374945091 rs1385959541 COSM22736	293	E>K	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1397492753 CA374945050	295	G>V		No	ClinGen gnomAD
CA5254337 rs764555984	296	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1300076092 CA374945037	296	P>S		No	ClinGen gnomAD
CA374945007 rs775819232	298	S>N		No	ClinGen ExAC
CA5254335 rs775819232	298	S>T		No	ClinGen ExAC
rs1193419543 CA374944893	302	F>V		No	ClinGen gnomAD
rs746222925 CA5254333	303	R>C		No	ClinGen ExAC gnomAD
CA5254332 rs776871325	303	R>H		No	ClinGen ExAC TOPMed gnomAD
rs149767177 COSM1460158 CA5254331 COSM1460159	304	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs373451089 CA5254329	305	A>T		No	ClinGen ESP ExAC
rs758402617 CA5254328	306	R>G		No	ClinGen ExAC gnomAD
CA374943524 rs1588682159	306	R>S		No	ClinGen Ensembl
CA374943455 rs1157207494	309	Q>P		No	ClinGen gnomAD
rs1456985932 CA374943376	310	G>E		No	ClinGen gnomAD
rs375350789 CA200264172	311	A>S		No	ClinGen TOPMed gnomAD
rs375350789 CA200264171	311	A>T		No	ClinGen TOPMed gnomAD
CA5254309 rs748273592	312	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA5254308 rs778864175	313	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1475971882 CA374943281	313	S>I		No	ClinGen TOPMed gnomAD
rs867126232 CA374943240	314	P>L		No	ClinGen gnomAD
rs867126232 CA200264168	314	P>Q		No	ClinGen gnomAD
CA374943168 rs377204058	316	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1203164913 CA374943142	316	E>D		No	ClinGen gnomAD
CA5254306 rs377204058	316	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1328177452 CA374943133	317	S>L		No	ClinGen gnomAD
rs1479303266 CA374943116	318	R>G		No	ClinGen gnomAD
CA200264163 rs867418144	319	A>D		No	ClinGen Ensembl
CA5254303 rs755750774	320	Q>P		No	ClinGen ExAC gnomAD
rs79988889 CA200264158	321	N>T		No	ClinGen Ensembl
rs1431550578 CA374942982	322	R>L		No	ClinGen gnomAD
CA374942968 rs1316805367	323	R>Q		No	ClinGen gnomAD
CA200264153 rs751976617	323	R>W		No	ClinGen Ensembl
rs780826532 CA5254301	324	L>M		No	ClinGen ExAC gnomAD
CA5254299 rs751051676	326	P>L		No	ClinGen ExAC TOPMed gnomAD
CA200264149 rs756715757	326	P>S		No	ClinGen ExAC TOPMed gnomAD
rs756715757 CA5254300	326	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5254297 rs201495145	327	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201495145 CA374942911	327	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374942864 rs1189882564	328	A>G		No	ClinGen TOPMed
CA374942877 rs1463513355	328	A>S		No	ClinGen TOPMed
CA5254295 rs766708171	330	N>D		No	ClinGen ExAC gnomAD
CA200264141 rs921755845	330	N>S		No	ClinGen TOPMed gnomAD
CA200264139 rs868423445	331	A>D		No	ClinGen gnomAD
CA374942820 rs1181433623	331	A>T		No	ClinGen TOPMed
CA374942808 rs868423445	331	A>V		No	ClinGen gnomAD
CA374942736 rs761281109	336	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1268474122 CA374942731	337	G>E		No	ClinGen gnomAD
CA5254293 COSM1187820 COSM1187821 rs773532793	337	G>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA374942718 rs1372356962	338	P>S		No	ClinGen gnomAD
CA200264132 rs753261284	339	E>K		No	ClinGen Ensembl
CA374942685 rs1347759731	340	Q>L		No	ClinGen gnomAD
rs761965414 CA5254291	341	R>C		No	ClinGen ExAC TOPMed gnomAD
CA200264130 rs868018042	341	R>L		No	ClinGen gnomAD
CA374942670 rs868018042	341	R>P		No	ClinGen gnomAD
CA374942627 rs1166134706	345	G>S		No	ClinGen TOPMed gnomAD
CA374942600 rs1448854771	347	V>M		No	ClinGen gnomAD
CA200264124 rs866371119	348	D>G		No	ClinGen Ensembl
rs1195276712 CA374942584	348	D>Y		No	ClinGen gnomAD
rs377457012 CA5254288	350	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1439748746 CA374942524	352	V>A		No	ClinGen gnomAD
CA590939750 TCGA novel rs1564136134	353	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
CA374942495 rs769512742	354	G>R		No	ClinGen ExAC TOPMed gnomAD
rs769512742 CA5254286	354	G>W		No	ClinGen ExAC TOPMed gnomAD
CA374942481 rs1349253013	355	L>V		No	ClinGen gnomAD
rs745693780 CA5254285	356	R>C		No	ClinGen ExAC TOPMed gnomAD
rs756950712 CA5254283	358	R>P		No	ClinGen ExAC TOPMed gnomAD
rs756950712 CA374942440	358	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1280481637 CA374942443	358	R>W		No	ClinGen gnomAD
rs746494013 CA5254282	360	E>G		No	ClinGen ExAC gnomAD
rs1428473325 CA374942399	361	H>L		No	ClinGen gnomAD
rs1375993976 CA374942397	361	H>Q		No	ClinGen gnomAD
CA5254281 rs151220449	361	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA374942364 rs1564136101	363	W>*		No	ClinGen Ensembl
rs1176921636 CA374942351	364	K>R		No	ClinGen TOPMed
rs755493226 CA374942323	366	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1177567237 CA374942309	367	R>H		No	ClinGen gnomAD
rs1424257662 CA374942314	367	R>S		No	ClinGen gnomAD
CA374942286 rs1471314052	369	P>T		No	ClinGen gnomAD
CA5254277 rs756501774	371	R>Q		No	ClinGen ExAC gnomAD
rs767028813 CA5254278	371	R>W		No	ClinGen ExAC gnomAD
CA200264109 rs997146060	372	T>I		No	ClinGen gnomAD
rs750869593 CA374942201	374	S>C		No	ClinGen ExAC gnomAD
rs750869593 CA5254276	374	S>F		No	ClinGen ExAC gnomAD
rs1285469733 CA374942162	377	S>N		No	ClinGen gnomAD
CA374942153 rs1428660695	377	S>R		No	ClinGen TOPMed
CA5254274 rs762009903	378	P>Q		No	ClinGen ExAC gnomAD
rs774478562 CA374942136	379	A>P		No	ClinGen ExAC gnomAD
rs774478562 CA5254273	379	A>T		No	ClinGen ExAC gnomAD
rs1468337622 CA374942129	379	A>V		No	ClinGen TOPMed
CA374942118 rs1285995525	380	R>H		No	ClinGen TOPMed gnomAD
CA374942114 rs1285995525	380	R>L		No	ClinGen TOPMed gnomAD
rs1359915332 CA374942094	382	A>T		No	ClinGen TOPMed
CA5254272 rs764023580	383	R>G		No	ClinGen ExAC gnomAD
rs1314150285 CA374942070	383	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5254270 rs775249636	384	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1230126457 CA374942054	385	L>F		No	ClinGen TOPMed
rs1159581920 CA374942051	385	L>P		No	ClinGen gnomAD
rs142240197 CA200264097	386	C>R		No	ClinGen ESP TOPMed gnomAD
CA374942016 rs1158642696	387	Q>R		No	ClinGen gnomAD
rs566073239 CA200264094	388	W>C		No	ClinGen 1000Genomes gnomAD
rs202022606 CA5254269	390	E>K		No	ClinGen ExAC TOPMed gnomAD
CA200264090 rs939460368	390	E>V		No	ClinGen TOPMed gnomAD
rs770563843 CA5254267	391	A>E		No	ClinGen ExAC TOPMed gnomAD
CA5254266 rs770563843	391	A>V		No	ClinGen ExAC TOPMed gnomAD
rs777491517 CA5254264	392	H>L		No	ClinGen ExAC TOPMed gnomAD
CA374941893 rs1227446236	393	T>M		No	ClinGen gnomAD

No associated diseases with Q5T9C9

1 regional properties for Q5T9C9

Type	Name	Position	InterPro Accession
domain	Phosphatidylinositol-4-phosphate 5-kinase, core	36 - 394	IPR002498

Functions

		Description
EC Number	2.7.1.68	Phosphotransferases with an alcohol group as acceptor
Subcellular Localization	Cytoplasm Membrane	Localized to large cytoplasmic vesicular structures
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cell projection	A prolongation or process extending from a cell, e.g. a flagellum or axon.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
1-phosphatidylinositol-4-phosphate 5-kinase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4-phosphate + ATP = 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + ADP + 2 H(+).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.

6 GO annotations of biological process

Name	Definition
negative regulation of cell migration	Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
negative regulation of mitochondrial membrane potential	Any process that stops, prevents, or reduces the frequency, rate or extent of establishment or extent of a mitochondrial membrane potential, the electric potential existing across any mitochondrial membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.
negative regulation of protein phosphorylation	Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein.
phosphatidylinositol phosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q0P5F7	PIP4K2C	Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma	Bos taurus (Bovine)	PR
Q17QS4	PIP5KL1	Phosphatidylinositol 4-phosphate 5-kinase-like protein 1	Bos taurus (Bovine)	PR
Q8TBX8	PIP4K2C	Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma	Homo sapiens (Human)	PR
P78356	PIP4K2B	Phosphatidylinositol 5-phosphate 4-kinase type-2 beta	Homo sapiens (Human)	PR
Q99755	PIP5K1A	Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha	Homo sapiens (Human)	PR
Q80XI4	Pip4k2b	Phosphatidylinositol 5-phosphate 4-kinase type-2 beta	Mus musculus (Mouse)	PR
Q91XU3	Pip4k2c	Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma	Mus musculus (Mouse)	PR
Q6U7H8	Pip5kl1	Phosphatidylinositol 4-phosphate 5-kinase-like protein 1	Mus musculus (Mouse)	PR
O88370	Pip4k2c	Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma	Rattus norvegicus (Rat)	PR
O48709	PIP5K3	Phosphatidylinositol 4-phosphate 5-kinase 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q56YP2	PIP5K1	Phosphatidylinositol 4-phosphate 5-kinase 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SFB8	PIP5K6	Phosphatidylinositol 4-phosphate 5-kinase 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8L796	PIP5K2	Phosphatidylinositol 4-phosphate 5-kinase 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q6GL14	pip4k2c	Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q6IQE1	pip4k2c	Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MAAPSPGPRE	VLAPSPEAGC	RAVTSSRRGL	LWRLRDKQSR	LGLFEISPGH	ELHGMTCMMQ
70	80	90	100	110	120
AGLWAATQVS	MDHPPTGPPS	RDDFSEVLTQ	VHEGFELGTL	AGPAFAWLRR	SLGLAEEDYQ
130	140	150	160	170	180
AALGPGGPYL	QFLSTSKSKA	SFFLSHDQRF	FLKTQGRREV	QALLAHLPRY	VQHLQRHPHS
190	200	210	220	230	240
LLARLLGVHS	LRVDRGKKTY	FIVMQSVFYP	AGRISERYDI	KGCEVSRWVD	PAPEGSPLVL
250	260	270	280	290	300
VLKDLNFQGK	TINLGPQRSW	FLRQMELDTT	FLRELNVLDY	SLLIAFQRLH	EDERGPGSSL
310	320	330	340	350	360
IFRTARSVQG	AQSPEESRAQ	NRRLLPDAPN	ALHILDGPEQ	RYFLGVVDLA	TVYGLRKRLE
370	380	390
HLWKTLRYPG	RTFSTVSPAR	YARRLCQWVE	AHTE