AiPD: Autoinhibited Protein Database

P35790

Gene name	CHKA (CHK, CKI)
Protein name	Choline kinase alpha
Names	CK, CHETK-alpha, Ethanolamine kinase, EK
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1119
EC number	2.7.1.32: 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)

1-113 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-113 (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

27 structures for P35790

Entry ID	Method	Resolution	Chain	Position	Source
2CKO	X-ray	215 A	A/B	50-457	PDB
2CKP	X-ray	310 A	A/B	50-457	PDB
2CKQ	X-ray	240 A	A/B	50-457	PDB
2I7Q	X-ray	190 A	A	75-457	PDB
3F2R	X-ray	235 A	A/B	75-457	PDB
3G15	X-ray	170 A	A/B	75-457	PDB
3ZM9	X-ray	190 A	A/B	75-457	PDB
4BR3	X-ray	220 A	A/B	75-457	PDB
4CG8	X-ray	175 A	A	75-457	PDB
4CG9	X-ray	183 A	A	75-457	PDB
4CGA	X-ray	174 A	A	75-457	PDB
4DA5	X-ray	240 A	A/B	1-457	PDB
5AFV	X-ray	225 A	A/B	80-457	PDB
5EQE	X-ray	240 A	A/B	75-457	PDB
5EQP	X-ray	235 A	A/B	75-457	PDB
5EQY	X-ray	250 A	A/B	75-457	PDB
5FTG	X-ray	145 A	A	80-457	PDB
5FUT	X-ray	160 A	A	80-457	PDB
5W6O	X-ray	235 A	A/B	80-457	PDB
7A04	X-ray	215 A	A/B	75-457	PDB
7A06	X-ray	180 A	A	75-457	PDB
7NB1	X-ray	230 A	AAA/BBB	75-457	PDB
7NB2	X-ray	240 A	AAA/BBB	75-457	PDB
7NB3	X-ray	200 A	AAA/BBB	75-457	PDB
8BI5	X-ray	250 A	A/B	1-457	PDB
8BI6	X-ray	240 A	A/B	1-457	PDB
AF-P35790-F1	Predicted				AlphaFoldDB

333 variants for P35790

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_087712 CA381603985 rs765529707	141	R>W	NEDMIMS; a functional model in yeast shows reduced choline kinase activity [UniProt]	Yes	ClinGen ExAC gnomAD UniProt
VAR_087713 rs763056271 CA6147839	194	P>S	NEDMIMS; a functional model in yeast shows reduced choline kinase activity [UniProt]	Yes	ClinGen ExAC gnomAD UniProt
VAR_087714	341	F>L	NEDMIMS [UniProt]	Yes	UniProt
TCGA novel	2	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	2	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381576443 rs1430180198	3	T>I		No	ClinGen gnomAD
rs1590894243 CA381576406	6	C>Y		No	ClinGen Ensembl
rs1055901995 CA381576387	7	T>I		No	ClinGen TOPMed gnomAD
rs1055901995 CA224227694	7	T>S		No	ClinGen TOPMed gnomAD
rs937487423 CA224227691	9	G>D		No	ClinGen TOPMed
rs937487423 CA381576361	9	G>V		No	ClinGen TOPMed
rs1236119237 CA381576324	11	A>G		No	ClinGen TOPMed
rs1260242044 CA381576218	17	G>E		No	ClinGen TOPMed
rs1466759176 CA381576231	17	G>R		No	ClinGen TOPMed gnomAD
CA381576121 rs1241759384	23	G>D		No	ClinGen Ensembl
CA381576060 rs1253355672	27	A>T		No	ClinGen TOPMed
rs945736065 CA224227658	29	P>A		No	ClinGen TOPMed gnomAD
rs1196739153 CA381575978	32	G>D		No	ClinGen TOPMed
CA381575972 rs1246048845	33	V>L		No	ClinGen TOPMed
CA224227650 rs912894172	34	G>E		No	ClinGen TOPMed gnomAD
CA381575928 rs1466837722	35	Q>H		No	ClinGen gnomAD
CA381575849 rs1379026981	40	A>V		No	ClinGen gnomAD
rs990495905 CA224227647	41	S>G		No	ClinGen TOPMed gnomAD
rs957294875 CA224227642	43	L>F		No	ClinGen TOPMed
CA381575796 rs1165155551	44	E>Q		No	ClinGen TOPMed
CA381575764 rs1388875242	45	S>F		No	ClinGen TOPMed
rs1590894149 CA381575774	45	S>T		No	ClinGen Ensembl
CA224227633 rs974591228	46	K>N		No	ClinGen TOPMed
CA224227629 rs965827942	47	Q>R		No	ClinGen TOPMed
CA381575700 rs1263361013	50	G>C		No	ClinGen TOPMed gnomAD
rs1218298928 CA381575654	52	Q>R		No	ClinGen TOPMed
rs1195197083 CA381575605	54	P>L		No	ClinGen TOPMed gnomAD
CA381575585 rs1440680519	56	A>T		No	ClinGen TOPMed gnomAD
rs1447459187 CA381575551	58	P>A		No	ClinGen TOPMed
CA381575534 rs1338403659	58	P>L		No	ClinGen TOPMed gnomAD
rs1447459187 CA381575543	58	P>S		No	ClinGen TOPMed
CA381575547 rs1447459187	58	P>T		No	ClinGen TOPMed
CA6147980 rs751522975	59	P>A		No	ClinGen ExAC TOPMed gnomAD
rs764007285 CA6147979	59	P>L		No	ClinGen ExAC TOPMed gnomAD
CA224227622 rs751522975	59	P>S		No	ClinGen ExAC TOPMed gnomAD
CA381575496 rs1230115854	60	P>L		No	ClinGen TOPMed gnomAD
rs1265250494 CA381575481	61	P>A		No	ClinGen TOPMed gnomAD
rs1308530860 CA381575472	61	P>L		No	ClinGen gnomAD
CA381575484 rs1265250494	61	P>T		No	ClinGen TOPMed gnomAD
rs1390676485 CA381575467	62	P>S		No	ClinGen TOPMed
rs1420801802 CA381575451	63	L>P		No	ClinGen TOPMed
CA224227606 rs898767014	64	P>L		No	ClinGen TOPMed
rs898767014 CA381575435	64	P>R		No	ClinGen TOPMed
CA224227609 rs995885133	64	P>S		No	ClinGen TOPMed gnomAD
CA381575426 rs1303335409	65	L>P		No	ClinGen TOPMed gnomAD
CA381575428 rs1303335409	65	L>Q		No	ClinGen TOPMed gnomAD
rs1278966672 CA381575410	66	P>L		No	ClinGen TOPMed gnomAD
rs1278966672 CA381575412	66	P>R		No	ClinGen TOPMed gnomAD
rs534821347 CA6147978	66	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1590894033 CA381575398	67	L>P		No	ClinGen Ensembl
rs1339257638 CA381575383	68	P>L		No	ClinGen gnomAD
TCGA novel	69	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381575375 rs1391015001	69	L>Q		No	ClinGen gnomAD
rs1396986014 CA381575359	70	P>R		No	ClinGen TOPMed gnomAD
rs759214535 CA6147972	71	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA6147970 rs770487488	72	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6147971 rs770487488	72	P>T		No	ClinGen ExAC TOPMed gnomAD
CA6147968 rs772772234	73	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6147965 rs1352823820	74	P>L		No	ClinGen TOPMed
rs1396342475 CA381575271	74	P>S		No	ClinGen gnomAD
CA6147962 rs769093407	75	P>L		No	ClinGen ExAC gnomAD
CA6147963 rs779452411	75	P>S		No	ClinGen ExAC gnomAD
rs749538147 CA6147961	76	Q>P		No	ClinGen ExAC gnomAD
rs780076644 CA6147960	77	P>R		No	ClinGen ExAC gnomAD
CA6147959 rs548906257	78	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381575195 rs548906257	78	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781307552 CA6147957	79	A>S		No	ClinGen ExAC gnomAD
CA6147958 rs781307552	79	A>T		No	ClinGen ExAC gnomAD
CA381575163 rs1199574894	80	D>G		No	ClinGen TOPMed
rs758368882 CA6147956	80	D>H		No	ClinGen ExAC gnomAD
CA381575150 rs1054138743	81	E>*		No	ClinGen TOPMed gnomAD
CA224227536 rs1054138743	81	E>K		No	ClinGen TOPMed gnomAD
rs765039402 CA6147954	83	P>L		No	ClinGen ExAC TOPMed gnomAD
rs765039402 CA224227529	83	P>R		No	ClinGen ExAC TOPMed gnomAD
rs752586611 CA6147955	83	P>S		No	ClinGen ExAC gnomAD
CA381575099 rs1331144342	84	E>D		No	ClinGen gnomAD
rs759267907 CA381575096	85	P>A		No	ClinGen ExAC TOPMed gnomAD
rs759267907 CA6147953	85	P>S		No	ClinGen ExAC TOPMed gnomAD
CA381575091 rs1439577067	86	R>G		No	ClinGen TOPMed
CA6147952 rs753532225	87	T>S		No	ClinGen ExAC TOPMed gnomAD
CA381575051 rs1377236258	89	R>L		No	ClinGen TOPMed gnomAD
rs1302553848 CA381575036	91	A>V		No	ClinGen TOPMed
CA381575022 rs1412385756	92	Y>S		No	ClinGen Ensembl
rs1361624131 CA381574936	95	C>R		No	ClinGen gnomAD
rs767014920 CA6147948	96	K>E		No	ClinGen ExAC gnomAD
rs530664707 CA6147947	96	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381574842 rs774945375	97	E>D		No	ClinGen ExAC TOPMed gnomAD
CA6147945 rs769150612	98	F>L		No	ClinGen ExAC TOPMed gnomAD
rs749741039 CA6147944	99	L>M		No	ClinGen ExAC gnomAD
rs1204570968 CA381574739	102	A>V		No	ClinGen TOPMed gnomAD
rs1258316430 CA381574575	107	R>S		No	ClinGen TOPMed
CA6147941 rs746068303	108	E>A		No	ClinGen ExAC gnomAD
CA6147942 rs769956867	108	E>K		No	ClinGen ExAC gnomAD
rs1319494303 CA381574510	109	D>E		No	ClinGen TOPMed
CA6147939 rs757275235 COSM1298511	110	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA381574368 rs1457578659	112	H>Q		No	ClinGen TOPMed
rs748090822 CA6147938	113	I>L		No	ClinGen ExAC TOPMed gnomAD
CA224227467 rs748090822	113	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1270090457 CA381574345	114	S>R		No	ClinGen TOPMed
CA381574327 rs1590893802	114	S>R		No	ClinGen Ensembl
CA224227465 rs549563780	114	S>T		No	ClinGen Ensembl
CA6147937 rs569504520	116	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569504520 CA6147936	116	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381604128 rs1332901524	118	G>A		No	ClinGen TOPMed gnomAD
CA381604129 rs1332901524	118	G>D		No	ClinGen TOPMed gnomAD
rs749211062 CA6147915	119	G>S		No	ClinGen ExAC gnomAD
CA381604097 rs1468080794	123	M>L		No	ClinGen TOPMed gnomAD
CA6147914 rs779736042	123	M>R		No	ClinGen ExAC TOPMed gnomAD
rs375011666 CA6147912	125	F>L		No	ClinGen ExAC gnomAD
CA6147911 rs767349832	126	Q>*		No	ClinGen ExAC
rs139911822 CA381604077	126	Q>P		No	ClinGen ESP ExAC gnomAD
CA6147910 rs139911822	126	Q>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	127	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751166615 CA6147909	127	C>R		No	ClinGen ExAC TOPMed gnomAD
rs763663084 CA6147908	132	T>A		No	ClinGen ExAC gnomAD
CA381604040 rs763663084	132	T>P		No	ClinGen ExAC gnomAD
CA6147907 rs763398771	134	A>T		No	ClinGen ExAC gnomAD
CA381604022 rs1432825933	135	T>I		No	ClinGen TOPMed
CA381604010 rs1382925232	137	G>D		No	ClinGen TOPMed
rs1323354805 CA381604005	138	D>N		No	ClinGen gnomAD
rs765529707 CA6147905	141	R>G		No	ClinGen ExAC gnomAD
CA6147904 rs759877440	141	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA381603957 rs1408588451	146	R>G		No	ClinGen gnomAD
rs1422167417 CA381603955	146	R>Q		No	ClinGen gnomAD
CA381603956 rs1408588451	146	R>W		No	ClinGen gnomAD
CA224234901 rs187957797	150	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs187957797 CA6147901	150	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381603911 rs1488904754	153	Q>R		No	ClinGen gnomAD
rs1207427362 CA381603902	154	M>I		No	ClinGen TOPMed
CA6147898 rs749196970	154	M>R		No	ClinGen ExAC gnomAD
rs17857113 CA224234863	154	M>V		No	ClinGen Ensembl
rs375117963 CA6147880	155	R>W		No	ClinGen ESP ExAC gnomAD
rs1278117716 CA381603334	156	S>C		No	ClinGen gnomAD
rs1343430989 CA381603324	157	C>Y		No	ClinGen TOPMed
rs150738052 CA224226873	158	N>D		No	ClinGen ESP TOPMed gnomAD
rs762023648 CA224226866	158	N>I		No	ClinGen ExAC gnomAD
rs762023648 CA6147878	158	N>S		No	ClinGen ExAC gnomAD
CA6147877 rs774285753	160	E>D		No	ClinGen ExAC TOPMed gnomAD
CA6147875 rs200175256	162	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527271212 COSM931198 CA6147872	163	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA224226839 rs936513064	164	Q>K		No	ClinGen TOPMed gnomAD
CA381603222 rs1315332521	164	Q>R		No	ClinGen gnomAD
TCGA novel	166	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757981746 CA6147870	166	Q>P		No	ClinGen ExAC gnomAD
rs140247990 CA6147869	167	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	167	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147139063 CA6147868	169	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6147867 rs201758584	170	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs910589469 CA224226820	171	F>L		No	ClinGen TOPMed
rs1474751442 CA381603111	172	Q>P		No	ClinGen TOPMed gnomAD
CA381602455 rs1167604945	175	E>G		No	ClinGen TOPMed
rs755207286 CA6147848	177	M>T		No	ClinGen ExAC gnomAD
rs754429170 CA6147849	177	M>V		No	ClinGen ExAC gnomAD
CA6147847 rs780605732	179	L>P		No	ClinGen ExAC gnomAD
rs143460799 CA224224116	182	V>I		No	ClinGen ESP TOPMed gnomAD
rs1291342588 COSM690320 CA381602404	183	M>T	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA6147844 rs750839566	184	F>L		No	ClinGen ExAC gnomAD
rs375494662 CA6147841	188	A>P		No	ClinGen ExAC gnomAD
rs375494662 CA6147842	188	A>T		No	ClinGen ExAC gnomAD
CA381602300 rs1296710755	199	I>N		No	ClinGen TOPMed
rs775704119 CA6147838	199	I>V		No	ClinGen ExAC gnomAD
rs1390229693 CA381602284	201	P>R		No	ClinGen gnomAD
CA6147836 rs760667062	202	Q>H		No	ClinGen ExAC gnomAD
CA6147835 rs773098010	203	G>D		No	ClinGen ExAC gnomAD
CA224224099 rs770887303	204	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs771723392 CA6147834	204	R>Q		No	ClinGen ExAC gnomAD
CA224224094 rs997481200	205	L>R		No	ClinGen TOPMed
CA6147832 rs773811260	208	F>Y		No	ClinGen ExAC gnomAD
rs148056199 CA381602234	209	I>M		No	ClinGen ESP ExAC gnomAD
CA381602239 rs1355048975	209	I>V		No	ClinGen gnomAD
CA6147829 rs201271073	210	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368477871 CA6147814	212	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs761582548 CA6147815	212	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA381601828 rs1283988003	213	R>*		No	ClinGen TOPMed
CA6147813 rs768349446	213	R>L		No	ClinGen ExAC
rs1286185779 CA381601815	215	D>G		No	ClinGen TOPMed gnomAD
rs775017205 CA6147811	215	D>N		No	ClinGen ExAC gnomAD
CA381601814 rs1286185779	215	D>V		No	ClinGen TOPMed gnomAD
rs1350972291 CA381601809	216	T>A		No	ClinGen gnomAD
CA6147810 rs769249113	218	E>K		No	ClinGen ExAC TOPMed gnomAD
VAR_054863 rs17853641 CA224222443	220	S>G		No	ClinGen UniProt Ensembl dbSNP
CA381601708 rs1173742790	223	D>G		No	ClinGen gnomAD
CA381601676 rs1172676632	225	S>F		No	ClinGen gnomAD
rs771462394 CA6147807	226	A>S		No	ClinGen ExAC gnomAD
rs1409314439 CA381601668	226	A>V		No	ClinGen gnomAD
rs1161750643 CA381601652	227	E>D		No	ClinGen gnomAD
rs1473113179 CA381601646	228	I>V		No	ClinGen TOPMed gnomAD
rs1186013179 CA381601628	229	A>S		No	ClinGen TOPMed gnomAD
CA381601632 rs1186013179	229	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs138597091 CA6147804	230	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA381601603 rs1481464542	231	K>E		No	ClinGen gnomAD
rs752926601 CA6147803	232	M>T		No	ClinGen ExAC gnomAD
CA6147801 rs753948663	234	T>I		No	ClinGen ExAC TOPMed gnomAD
rs753948663 CA6147800	234	T>K		No	ClinGen ExAC TOPMed gnomAD
rs888867688 CA224222395	237	G>S		No	ClinGen TOPMed
CA6147799 rs767414264	237	G>V		No	ClinGen ExAC gnomAD
CA6147798 rs761788836	239	K>T		No	ClinGen ExAC gnomAD
rs1342226176 CA381601466	240	M>K		No	ClinGen gnomAD
rs751354041 CA6147797	240	M>V		No	ClinGen ExAC TOPMed gnomAD
rs370436517 CA6147795	243	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1376281166 CA381601410	244	K>N		No	ClinGen TOPMed
CA224222367 rs552858667	246	P>S		No	ClinGen 1000Genomes
CA6147793 rs775068715	248	W>C		No	ClinGen ExAC gnomAD
rs1342859265 CA381601356	249	L>F		No	ClinGen TOPMed
rs1342859265 CA381601357	249	L>V		No	ClinGen TOPMed
TCGA novel	258	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381601124 rs1218676794	260	V>M		No	ClinGen TOPMed gnomAD
CA381601087 rs1590842553	263	I>L		No	ClinGen Ensembl
CA381601078 rs1453107603	263	I>S		No	ClinGen gnomAD
rs1565176218 CA381600987	270	R>G		No	ClinGen Ensembl
rs765871099 CA6147771	271	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1340004533 CA381600966	271	I>M		No	ClinGen gnomAD
rs139428491 CA6147770	271	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139428491 CA224222077	271	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765871099 CA381600971	271	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1299133126 CA381600963	272	K>*		No	ClinGen gnomAD
rs772703860 CA6147768	273	K>N		No	ClinGen ExAC TOPMed gnomAD
rs141301224 CA6147769	273	K>R		No	ClinGen ESP ExAC gnomAD
CA381600939 rs1300961741	274	L>P		No	ClinGen gnomAD
CA6147767 rs377363970	275	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA381600935 rs1447037792	275	H>Y		No	ClinGen gnomAD
CA381600919 rs1438253861	276	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	278	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224222048 rs748944595	279	S>C		No	ClinGen ExAC gnomAD
CA6147766 rs748944595	279	S>G		No	ClinGen ExAC gnomAD
TCGA novel	280	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381600865 rs1328628709	280	Y>N		No	ClinGen gnomAD
rs1009983788 CA224222042	281	N>S		No	ClinGen TOPMed
rs1359461055 CA381600816	283	P>S		No	ClinGen gnomAD
rs780022198 CA6147763	285	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1445382413 CA381600750	288	N>Y		No	ClinGen TOPMed
rs769018729 CA6147746	291	S>A		No	ClinGen ExAC gnomAD
CA6147744 rs766793226	297	P>S		No	ClinGen ExAC TOPMed gnomAD
CA381600305 rs1590841124	299	P>Q		No	ClinGen Ensembl
CA6147743 rs146591488	299	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA381600298 rs1471481053	301	V>I		No	ClinGen gnomAD
rs145634847 CA224221402	302	F>C		No	ClinGen ESP TOPMed
CA6147726 rs775699711	310	G>D		No	ClinGen ExAC
rs1483286585 CA381600043	311	N>D		No	ClinGen gnomAD
CA381600008 rs1385690752	312	I>V		No	ClinGen TOPMed
rs770047398 CA6147725	316	E>K		No	ClinGen ExAC gnomAD
TCGA novel	318	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381599866 rs1049066025	318	R>G		No	ClinGen TOPMed gnomAD
CA6147724 rs759719763	318	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6147722 rs374884989	319	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1246004278 CA381599804	320	N>S		No	ClinGen TOPMed
rs1244528575 CA381599749	323	K>E		No	ClinGen gnomAD
TCGA novel	323	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6147721 rs140549404	323	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6147720 rs778843766	324	Q>E		No	ClinGen ExAC gnomAD
CA6147717 rs151320545	326	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381599671 rs1295559343	326	L>P		No	ClinGen gnomAD
CA6147715 rs750049988	332	E>*		No	ClinGen ExAC
rs780865806 CA6147714	336	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs373388617 CA6147713	337	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1192170501 CA381598424	340	G>V		No	ClinGen gnomAD
rs1208002620 CA381598403	343	I>T		No	ClinGen gnomAD
CA381598323 rs1565174333	351	M>I		No	ClinGen Ensembl
CA381598328 rs1342922968	351	M>L		No	ClinGen gnomAD
CA381598306 rs1255534404	353	D>E		No	ClinGen gnomAD
CA381598281 rs1231270437	357	E>K		No	ClinGen TOPMed gnomAD
CA381598260 rs1034115976	359	Y>*		No	ClinGen TOPMed gnomAD
CA6147692 rs148761564	359	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1405346984 CA381598256	360	P>S		No	ClinGen TOPMed gnomAD
CA381598243 rs1322381792	362	F>L		No	ClinGen TOPMed
TCGA novel	363	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411628235 CA381598225	364	A>G		No	ClinGen gnomAD
rs182680057 CA6147686	367	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs186951601 CA6147687	367	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381598200 rs1565174291	368	K>M		No	ClinGen Ensembl
rs1565174285 CA381598194	369	Y>S		No	ClinGen Ensembl
CA6147685 rs760778715	371	T>I		No	ClinGen ExAC gnomAD
rs1176781364 CA381598169	373	K>E		No	ClinGen gnomAD
TCGA novel	375	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381598134 rs1303019185	376	L>F		No	ClinGen TOPMed
rs909292890 CA224217576	377	H>R		No	ClinGen gnomAD
rs767642573 CA6147663	379	I>L		No	ClinGen ExAC gnomAD
CA6147662 rs761868883	380	S>F		No	ClinGen ExAC gnomAD
rs1265967994 CA381598075	384	P>L		No	ClinGen gnomAD
CA381598077 rs1463730861	384	P>S		No	ClinGen TOPMed gnomAD
CA6147659 rs759511552	385	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6147657 CA381598054 rs770580678	387	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	391	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs913967801 CA224217566	392	N>D		No	ClinGen TOPMed
rs1315163392 CA381598012	393	L>F		No	ClinGen TOPMed gnomAD
CA381597995 rs1392241093	395	T>I		No	ClinGen gnomAD
CA6147656 rs760386445	396	E>G		No	ClinGen ExAC gnomAD
CA6147655 rs772671103	397	E>A		No	ClinGen ExAC TOPMed gnomAD
CA6147654 rs771750521	398	K>R		No	ClinGen ExAC gnomAD
TCGA novel	399	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6147653 rs747714152	399	S>Y		No	ClinGen ExAC gnomAD
CA6147651 rs145358463	401	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs778364222 CA6147652	401	I>V		No	ClinGen ExAC gnomAD
rs537452147 CA6147650	402	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780482487 CA6147649	405	M>T		No	ClinGen ExAC gnomAD
rs1590836826 CA381597903	409	V>I		No	ClinGen Ensembl
rs1194247919 CA381597895	410	N>I		No	ClinGen gnomAD
rs1343894023 CA381597721	415	A>G		No	ClinGen gnomAD
rs1439070671 CA381597713	417	H>Y		No	ClinGen gnomAD
CA224216955 VAR_054864 rs17853642	422	L>Q		No	ClinGen UniProt Ensembl dbSNP
rs1336103298 CA381597665	423	W>C		No	ClinGen TOPMed
rs376609261 CA224216953	425	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6147627 rs376609261	425	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6147625 rs757588762	426	V>L		No	ClinGen ExAC gnomAD
CA224216947 rs954169862	430	I>F		No	ClinGen gnomAD
CA381597610 rs1423336291	432	S>F		No	ClinGen gnomAD
rs1355375230 CA381597606	433	I>V		No	ClinGen TOPMed
rs778016291 CA6147623	438	M>R		No	ClinGen ExAC gnomAD
CA381597530 rs778016291	438	M>T		No	ClinGen ExAC gnomAD
rs140389865 CA6147587	439	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1405532076 CA381595488	439	D>N		No	ClinGen gnomAD
CA6147588 rs763781221	439	D>V		No	ClinGen ExAC gnomAD
rs1174986137 CA381595436	441	A>D		No	ClinGen gnomAD
rs1373308573 CA381595443	441	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1174986137 CA381595431	441	A>V		No	ClinGen gnomAD
rs1565168504 CA381595383	444	R>K		No	ClinGen Ensembl
CA381595336 rs1565168499	447	A>V		No	ClinGen Ensembl
rs759978491 CA6147584	448	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA381595325 rs1200758655	448	Y>H		No	ClinGen gnomAD
rs1302620998 CA381595277	450	H>P		No	ClinGen gnomAD
CA6147583 rs777132759	452	K>E		No	ClinGen ExAC gnomAD
CA6147582 rs771562960	453	R>K		No	ClinGen ExAC gnomAD
rs1470039404 CA381595218	454	K>E		No	ClinGen gnomAD
CA381595214 rs1202305116	454	K>R		No	ClinGen TOPMed
rs1481033396 CA381595198	455	L>R		No	ClinGen gnomAD
CA6147581 rs747437768	456	G>A		No	ClinGen ExAC gnomAD
CA6147579 rs772463621 CA381595179	457	V>L		No	ClinGen ExAC gnomAD
CA381595158 rs1241169841	458	V>W		No	ClinGen TOPMed

No associated diseases with P35790

5 regional properties for P35790

Type	Name	Position	InterPro Accession
domain	WHEP-TRS domain	61 - 120	IPR000738
domain	Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)	294 - 588	IPR002314
domain	Anticodon-binding	611 - 703	IPR004154
domain	Aminoacyl-tRNA synthetase, class II	293 - 609	IPR006195
domain	Glycyl-tRNA synthetase-like core domain	122 - 466	IPR033731

Functions

		Description
EC Number	2.7.1.32	Phosphotransferases with an alcohol group as acceptor
Subcellular Localization	Cytoplasm, cytosol ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
lipid droplet	An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins.

6 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
choline kinase activity	Catalysis of the reaction: ATP + choline = ADP + choline phosphate + 2 H(+).
cholinesterase activity	Catalysis of the reaction: an acylcholine + H2O = choline + a carboxylic acid anion.
ethanolamine kinase activity	Catalysis of the reaction: ATP + ethanolamine = ADP + 2 H(+) + phosphoethanolamine.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.

7 GO annotations of biological process

Name	Definition
CDP-choline pathway	The phosphatidylcholine biosynthetic process that begins with the phosphorylation of choline and ends with the combination of CDP-choline with diacylglycerol to form phosphatidylcholine.
cellular response to glucose starvation	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of glucose.
lipid droplet disassembly	The disaggregation of a lipid particle into its constituent components.
lipid metabolic process	The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids.
lipid transport	The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.
phosphatidylcholine biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline.
phosphatidylethanolamine biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylethanolamine, any of a class of glycerophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of ethanolamine.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P20485	CKI1	Choline kinase	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P54352	eas	Ethanolamine kinase	Drosophila melanogaster (Fruit fly)	PR
Q9HBU6	ETNK1	Ethanolamine kinase 1	Homo sapiens (Human)	PR
A7MCT6	Etnk2	Ethanolamine kinase 2	Mus musculus (Mouse)	PR
Q9D4V0	Etnk1	Ethanolamine kinase 1	Mus musculus (Mouse)	PR
O54804	Chka	Choline kinase alpha	Mus musculus (Mouse)	PR
D3ZRW8	Etnk2	Ethanolamine kinase 2	Rattus norvegicus (Rat)	PR
Q01134	Chka	Choline kinase alpha	Rattus norvegicus (Rat)	PR
Q8L518	At1g74320	Probable choline kinase 2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MKTKFCTGGE	AEPSPLGLLL	SCGSGSAAPA	PGVGQQRDAA	SDLESKQLGG	QQPPLALPPP
70	80	90	100	110	120
PPLPLPLPLP	QPPPPQPPAD	EQPEPRTRRR	AYLWCKEFLP	GAWRGLREDE	FHISVIRGGL
130	140	150	160	170	180
SNMLFQCSLP	DTTATLGDEP	RKVLLRLYGA	ILQMRSCNKE	GSEQAQKENE	FQGAEAMVLE
190	200	210	220	230	240
SVMFAILAER	SLGPKLYGIF	PQGRLEQFIP	SRRLDTEELS	LPDISAEIAE	KMATFHGMKM
250	260	270	280	290	300
PFNKEPKWLF	GTMEKYLKEV	LRIKFTEESR	IKKLHKLLSY	NLPLELENLR	SLLESTPSPV
310	320	330	340	350	360
VFCHNDCQEG	NILLLEGREN	SEKQKLMLID	FEYSSYNYRG	FDIGNHFCEW	MYDYSYEKYP
370	380	390	400	410	420
FFRANIRKYP	TKKQQLHFIS	SYLPAFQNDF	ENLSTEEKSI	IKEEMLLEVN	RFALASHFLW
430	440	450
GLWSIVQAKI	SSIEFGYMDY	AQARFDAYFH	QKRKLGV