AiPD: Autoinhibited Protein Database

Q15118

Gene name	PDK1 (PDHK1)
Protein name	[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial
Names	Protein PD-1, hPD-1, Pyruvate dehydrogenase kinase isoform 1, PDH kinase 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5163
EC number	2.7.11.2: Protein-serine/threonine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

369-436 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

369-436 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

4 structures for Q15118

Entry ID	Method	Resolution	Chain	Position	Source
2Q8F	X-ray	203 A	A	30-436	PDB
2Q8G	X-ray	190 A	A	30-436	PDB
2Q8H	X-ray	200 A	A	30-436	PDB
AF-Q15118-F1	Predicted				AlphaFoldDB

311 variants for Q15118

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1399623417 CA349294925	2	R>K		No	ClinGen TOPMed
rs1399623417 CA349294927	2	R>T		No	ClinGen TOPMed
rs1463860258 CA349294995	7	L>H		No	ClinGen gnomAD
rs1296755062 CA349295007	8	R>C		No	ClinGen gnomAD
CA349295021 rs1432963119	9	G>R		No	ClinGen TOPMed
rs1377518082 CA349295050	11	A>V		No	ClinGen TOPMed
rs913439976 CA60707290	13	A>V		No	ClinGen TOPMed gnomAD
rs1396488536 CA349295087	14	G>S		No	ClinGen gnomAD
CA349295114 rs1442281271	15	P>L		No	ClinGen TOPMed gnomAD
CA349295109 rs1442281271	15	P>Q		No	ClinGen TOPMed gnomAD
CA349295111 rs1442281271	15	P>R		No	ClinGen TOPMed gnomAD
CA60707291 rs947598402	17	P>L		No	ClinGen TOPMed gnomAD
CA349295140 rs947598402	17	P>Q		No	ClinGen TOPMed gnomAD
rs759012187 CA1968687	18	G>A		No	ClinGen ExAC gnomAD
CA349295155 rs759012187	18	G>E		No	ClinGen ExAC gnomAD
rs1368845841 CA349295151	18	G>W		No	ClinGen gnomAD
CA1968688 rs772060346	19	L>M		No	ClinGen ExAC gnomAD
rs1249386052 CA349295210	22	A>T		No	ClinGen gnomAD
CA1968690 rs760469835	23	G>R		No	ClinGen ExAC TOPMed gnomAD
rs763912427 CA1968691	26	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753625388 CA1968692	27	S>*		No	ClinGen ExAC gnomAD
CA349295289 rs1419810649	27	S>I		No	ClinGen gnomAD
rs1168860280 CA349295304	29	S>T		No	ClinGen gnomAD
rs1462474567 CA349295328	32	S>L		No	ClinGen gnomAD
CA1968693 rs750634790	32	S>P		No	ClinGen ExAC TOPMed gnomAD
CA349295366 rs1328543996	35	S>R		No	ClinGen gnomAD
rs763286895 CA1968694	35	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1364417646 CA349295394	36	P>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1289463405 CA349295389	36	P>S		No	ClinGen gnomAD
rs766479213 CA349295434	39	E>*		No	ClinGen ExAC TOPMed gnomAD
CA60707333 rs766479213	39	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1968695 rs766479213	39	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs751757496 CA1968696	42	V>F		No	ClinGen ExAC gnomAD
rs755094222 CA1968697	43	P>L		No	ClinGen ExAC gnomAD
rs1233635029 CA349295493	43	P>S		No	ClinGen gnomAD
CA349295530 rs1258435685	45	Q>P		No	ClinGen gnomAD
CA349295570 rs1242190415	47	D>E		No	ClinGen gnomAD
CA1968699 rs753186072	47	D>N		No	ClinGen ExAC gnomAD
rs1486666655 CA349295610	49	Y>*		No	ClinGen gnomAD
CA349295625 rs1184385225	50	A>V		No	ClinGen TOPMed gnomAD
CA60707362 rs1005007251	51	R>L		No	ClinGen TOPMed gnomAD
COSM3933371 rs756577323 CA1968700	52	F>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA349295672 rs1332576394	53	S>L		No	ClinGen TOPMed
rs1332576394 CA349295670	53	S>W		No	ClinGen TOPMed
CA60707369 rs991034797	54	P>L		No	ClinGen TOPMed
rs1014693497 CA60707374	55	S>C		No	ClinGen gnomAD
CA1968703 rs770652941	57	L>P		No	ClinGen ExAC TOPMed gnomAD
CA1968704 rs778422206	59	M>I		No	ClinGen ExAC gnomAD
CA349295757 rs1260010783	59	M>T		No	ClinGen Ensembl
rs1347005262 CA349295750	59	M>V		No	ClinGen TOPMed gnomAD
CA349295847 rs1231675144	64	D>V		No	ClinGen TOPMed
rs745399747 CA1968705	65	F>L		No	ClinGen ExAC gnomAD
CA349295866 rs1340170333	66	G>R		No	ClinGen TOPMed
rs1558922901 CA349296669	68	V>A		No	ClinGen Ensembl
rs1442226237 CA349296675	69	N>S		No	ClinGen gnomAD
CA1968728 rs768708069	72	E>G		No	ClinGen ExAC gnomAD
CA349296766 rs1178186075	75	S>L		No	ClinGen gnomAD
rs1558922972 CA349296810	77	M>I		No	ClinGen Ensembl
CA349296831 rs779852885 CA1968731	78	F>L		No	ClinGen ExAC gnomAD
CA349296845 rs1157330259	79	L>P		No	ClinGen TOPMed
rs1401722050 CA349296856	80	R>L		No	ClinGen TOPMed gnomAD
CA349296854 rs1401722050 COSM1172819	80	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1172034175 CA349296851	80	R>W		No	ClinGen gnomAD
CA349296860 rs759782464	81	Q>E		No	ClinGen ExAC gnomAD
rs759782464 CA1968733	81	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	82	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM441509 rs1178133263 CA349296881	82	E>Q	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA1968735 rs775748943	89	N>S		No	ClinGen ExAC gnomAD
CA60708632 rs952361059	90	I>T		No	ClinGen Ensembl
rs760663658 CA1968736	91	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1454426747 CA349297064	94	I>L		No	ClinGen TOPMed gnomAD
TCGA novel	94	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	95	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764717497 CA1968739	96	L>F		No	ClinGen ExAC gnomAD
CA1968741 rs757673678	98	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1968740 rs754235800	98	P>S		No	ClinGen ExAC
rs1275551627 CA349297173	102	L>F		No	ClinGen gnomAD
CA1968742 rs765540973	105	P>L		No	ClinGen ExAC gnomAD
rs1312543330 CA349297242	106	S>C		No	ClinGen TOPMed
CA349297235 rs1215044213	106	S>P		No	ClinGen TOPMed
TCGA novel	107	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1968746 rs746589853	109	L>M		No	ClinGen ExAC gnomAD
CA349297309 rs1377297414	110	V>G		No	ClinGen gnomAD
CA1968748 CA1968749 rs150453953	111	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1968750 rs201626926	112	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1558926558 CA349297535	113	W>*		No	ClinGen Ensembl
CA60709797 rs749151496	115	I>M		No	ClinGen ExAC gnomAD
CA349297588 rs1243214134	116	Q>R		No	ClinGen gnomAD
TCGA novel	118	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349297726 rs1351516785	122	L>R		No	ClinGen gnomAD
CA1968771 rs770788565	124	F>C		No	ClinGen ExAC gnomAD
CA1968773 rs747153051	127	K>R		No	ClinGen ExAC gnomAD
rs768904460 CA1968774	129	A>D		No	ClinGen ExAC gnomAD
rs776618358 CA349298000	131	D>A		No	ClinGen ExAC TOPMed gnomAD
rs776618358 CA1968775	131	D>V		No	ClinGen ExAC TOPMed gnomAD
CA60709816 rs963055899	132	A>G		No	ClinGen Ensembl
rs149615712 CA1968777	133	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1968778 rs35661499 VAR_050477	134	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1968779 rs139549043	134	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1968818 rs141078693	137	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1968822 rs760454656	140	D>G		No	ClinGen ExAC gnomAD
rs775309907 CA1968821	140	D>H		No	ClinGen ExAC gnomAD
CA1968824 rs189497620	141	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1968823 rs763810546	141	T>S		No	ClinGen ExAC gnomAD
rs750309998 CA1968828	144	R>Q		No	ClinGen ExAC gnomAD
CA1968826 rs149722889	144	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs144985808 CA1968830	148	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs201302851 CA1968831	150	N>D		No	ClinGen 1000Genomes ExAC TOPMed
rs756368326 CA1968832	151	D>N		No	ClinGen ExAC gnomAD
CA1968833 rs377332246	153	I>V		No	ClinGen ESP ExAC gnomAD
CA349300467 rs1454313270	154	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs757300935 CA1968835	156	M>I		No	ClinGen ExAC TOPMed gnomAD
CA349300533 rs753972881	156	M>K		No	ClinGen ExAC TOPMed gnomAD
rs753972881 CA1968834	156	M>T		No	ClinGen ExAC TOPMed gnomAD
CA60710342 rs202235376	156	M>V		No	ClinGen TOPMed gnomAD
rs1217600923 CA349300594	158	Q>H		No	ClinGen TOPMed
CA349300588 rs1285888284	158	Q>P		No	ClinGen gnomAD
rs148932165 CA1968836	161	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA349300660 rs1284134593	163	Y>*		No	ClinGen TOPMed
rs746342831 CA1968837	163	Y>C		No	ClinGen ExAC gnomAD
rs200611819 CA60710349	164	K>R		No	ClinGen 1000Genomes
CA349300676 rs1307083363	166	S>R		No	ClinGen gnomAD
rs376493503 CA1968838	171	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	172	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1968841 rs61740556	176	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1212599335 CA349300870	177	V>I		No	ClinGen TOPMed gnomAD
CA349300891 rs1290038219	178	Q>K		No	ClinGen TOPMed
rs1472749473 CA349300937	179	Y>*		No	ClinGen gnomAD
rs1236245594 CA349300934	179	Y>F		No	ClinGen gnomAD
rs1359081865 CA349300967	181	L>*		No	ClinGen TOPMed
CA1968845 rs139326921	183	R>*		No	ClinGen ESP ExAC gnomAD
rs137856670 CA1968846	183	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1968848 rs766194416	189	I>T		No	ClinGen ExAC TOPMed gnomAD
rs751422301 CA1968849	191	I>M		No	ClinGen ExAC gnomAD
CA349301360 rs1173267739	191	I>T		No	ClinGen TOPMed
TCGA novel	192	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349301406 rs1357427955	193	M>T		No	ClinGen gnomAD
CA1968850 rs181276492	196	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764309021 CA1968851	197	Q>P		No	ClinGen ExAC gnomAD
rs753990076 CA1968852	198	H>Y		No	ClinGen ExAC gnomAD
rs1032176844 CA60710431	199	S>C		No	ClinGen TOPMed gnomAD
CA1968871 rs754027344	203	G>C		No	ClinGen ExAC gnomAD
rs1326460594 CA349302204	205	K>R		No	ClinGen TOPMed
CA1968872 rs375893098	206	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs75108969 CA60710438	210	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1253675578 CA349302388	211	S>C		No	ClinGen gnomAD
CA60710441 rs111983162	212	H>R		No	ClinGen Ensembl
rs765375518 CA1968873	212	H>Y		No	ClinGen ExAC gnomAD
CA1968874 rs750576998	213	R>*	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758355812 COSM1009606 CA1968875	213	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs766998131 CA1968876	214	K>I		No	ClinGen ExAC TOPMed
CA349302490 rs1343085223	216	I>T		No	ClinGen gnomAD
COSM257703 CA1968877 rs752073863	218	S>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs759902676 CA60710446	221	P>R		No	ClinGen Ensembl
rs201965407 CA1968879	224	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1968878 rs755417190	224	N>S		No	ClinGen ExAC gnomAD
TCGA novel	226	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	227	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748428552 CA349302776	227	E>K		No	ClinGen ExAC TOPMed gnomAD
rs748428552 CA1968880	227	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA349302824 rs1180813378	229	I>V		No	ClinGen TOPMed
CA1968881 rs755860725	230	K>E		No	ClinGen ExAC TOPMed gnomAD
rs768295817 CA1968910	235	N>T		No	ClinGen ExAC gnomAD
CA1968911 rs773507144	236	A>G		No	ClinGen ExAC gnomAD
CA1968912 rs148646668	237	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766680236 CA1968913	238	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200433531 CA1968914	238	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1458549159 CA349304434	241	D>E		No	ClinGen TOPMed
CA1968917 rs753078285	245	I>M		No	ClinGen ExAC gnomAD
rs146257365 CA1968916	245	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1968915 rs759674880	245	I>V		No	ClinGen ExAC gnomAD
rs761128447 CA1968918	246	N>K		No	ClinGen ExAC gnomAD
CA349304602 rs1378025516	246	N>S		No	ClinGen gnomAD
COSM1325756 CA1968919 rs764312711	247	S>C	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs756942072 COSM3837427 CA1968921	249	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	251	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250197783 CA349304761	255	L>I		No	ClinGen TOPMed
CA349304775 rs1210823901	256	N>D		No	ClinGen TOPMed
CA349304785 rs1307368409	256	N>S		No	ClinGen gnomAD
rs1490719336 CA349304807	257	A>P		No	ClinGen TOPMed
CA349304978 rs1313135086	259	S>L		No	ClinGen gnomAD
rs1574479850 CA349304974	259	S>P		No	ClinGen Ensembl
CA349304984 rs1376492430	260	P>R		No	ClinGen gnomAD
rs371733819 CA1968941	263	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1361887062 CA349305005	264	I>L		No	ClinGen gnomAD
rs1262445276 CA349305029	267	V>D		No	ClinGen gnomAD
CA349305056 rs779482243	271	S>C		No	ClinGen ExAC gnomAD
CA1968943 rs779482243	271	S>F		No	ClinGen ExAC gnomAD
CA349305053 rs1200052683	271	S>P		No	ClinGen gnomAD
CA1968944 rs751052952	272	H>Q		No	ClinGen ExAC gnomAD
rs1005016462 CA60711527	272	H>R		No	ClinGen Ensembl
rs1445421501 CA349305074	274	Y>C		No	ClinGen gnomAD
CA60711533 rs375099757	276	M>V		No	ClinGen ESP TOPMed gnomAD
rs1014678030 CA60711538	277	V>G		No	ClinGen gnomAD
rs1199133182 CA349305101	278	F>S		No	ClinGen gnomAD
TCGA novel	279	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349305121 rs1467617594	281	F>L		No	ClinGen gnomAD
rs77502960 CA60711544	282	K>N		No	ClinGen Ensembl
CA1968946 rs781258963	282	K>R		No	ClinGen ExAC gnomAD
CA1968959 rs762557515	285	M>V		No	ClinGen ExAC gnomAD
rs766053872 CA1968960	288	T>A		No	ClinGen ExAC gnomAD
CA349305804 rs1424221411	289	M>I		No	ClinGen gnomAD
rs200446159 CA1968961	289	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1360955131 CA349305868	292	H>R		No	ClinGen gnomAD
rs866503289 CA60712191	293	A>D		No	ClinGen gnomAD
rs866503289 CA349305876	293	A>G		No	ClinGen gnomAD
CA349305904 rs1361115780	295	R>I		No	ClinGen gnomAD
CA349305915 rs1228464785	296	G>D		No	ClinGen TOPMed gnomAD
CA349305979 rs1163899972	299	P>L		No	ClinGen gnomAD
CA60712200 rs376882191	299	P>S		No	ClinGen Ensembl
CA1968967 rs755995707	300	P>A		No	ClinGen ExAC gnomAD
CA1968966 rs755995707	300	P>T		No	ClinGen ExAC gnomAD
CA1968968 rs267599009	302	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1242108168 CA349306021	302	Q>L		No	ClinGen gnomAD
rs758613186 CA1968969	303	V>G		No	ClinGen ExAC gnomAD
CA349306033 rs1558935793	303	V>L		No	ClinGen Ensembl
CA349306052 rs1183707418	304	H>P		No	ClinGen TOPMed gnomAD
CA349306056 rs1183707418	304	H>R		No	ClinGen TOPMed gnomAD
CA1968971 rs747065219 COSM1293950	306	T>M	cervix [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777145616 CA1968973	307	L>V		No	ClinGen ExAC gnomAD
rs748707861 CA1968974	308	G>V		No	ClinGen ExAC gnomAD
CA60712221 rs887572837	309	N>S		No	ClinGen Ensembl
rs1410712691 CA349309521	316	M>V		No	ClinGen TOPMed
CA1969010 rs773713799	317	S>G		No	ClinGen ExAC gnomAD
CA1969011 rs773713799	317	S>R		No	ClinGen ExAC gnomAD
rs1199395087 CA349309544	319	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs368778633 CA1969012	319	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA1969014 rs759281350	320	G>R		No	ClinGen ExAC gnomAD
CA60719227 rs1019143760	321	G>R		No	ClinGen TOPMed gnomAD
rs1195090888 CA349309558	322	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA1969016 rs373351437 COSM1220080	323	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs760246104 CA1969017	328	I>T		No	ClinGen ExAC TOPMed
CA1969018 rs764133596	329	D>N		No	ClinGen ExAC TOPMed gnomAD
CA349309639 rs753769680	330	R>*		No	ClinGen ExAC TOPMed gnomAD
CA1969019 rs753769680	330	R>G		No	ClinGen ExAC TOPMed gnomAD
rs761535894 CA1969020	331	L>V		No	ClinGen ExAC gnomAD
CA1969021 rs765128682	332	F>L		No	ClinGen ExAC gnomAD
TCGA novel	332	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755262899 CA1969023	335	M>I		No	ClinGen ExAC TOPMed gnomAD
rs538361950 CA1969022	335	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA349309726 CA60719271 rs996270562	337	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs781382021 CA1969024	338	T>A		No	ClinGen ExAC gnomAD
CA60719290 rs778170916	340	P>Q		No	ClinGen ExAC gnomAD
CA1969027 rs778170916	340	P>R		No	ClinGen ExAC gnomAD
CA349309761 rs1337537940	341	R>T		No	ClinGen gnomAD
rs1038550844 CA60719299	342	P>L		No	ClinGen TOPMed
rs575410435 CA1969028	343	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575410435 CA1969029	343	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1969030 rs779374368	343	R>H	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA349309778 rs779374368	343	R>P		No	ClinGen ExAC TOPMed gnomAD
rs536890432 CA1969032	347	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1969033 rs775223373	348	R>C		No	ClinGen ExAC gnomAD
CA1969034 rs555187654	348	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555187654 CA349309933	348	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775981849 CA1969036	349	A>T	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1348652126 CA349309944	350	V>A		No	ClinGen Ensembl
rs1166793739 CA349309946	351	P>T		No	ClinGen gnomAD
rs774106263 CA1969064	356	G>V		No	ClinGen ExAC gnomAD
rs760923493 CA1969065	358	G>*		No	ClinGen ExAC TOPMed gnomAD
rs1354666236 CA349311317	360	P>S		No	ClinGen gnomAD
rs1240686360 CA349311321	361	I>L		No	ClinGen gnomAD
rs1240686360 CA349311323	361	I>V		No	ClinGen gnomAD
CA1969067 rs754006788	363	R>C		No	ClinGen ExAC TOPMed gnomAD
CA349311335 rs1204517136	363	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1969068 rs754006788	363	R>S		No	ClinGen ExAC TOPMed gnomAD
CA349311340 rs1256692062	364	L>F		No	ClinGen gnomAD
CA1969070 rs370625914	366	A>S		No	ClinGen ESP ExAC gnomAD
rs370625914 CA1969071	366	A>T		No	ClinGen ESP ExAC gnomAD
rs1435726134 CA349311383	370	Q>P		No	ClinGen gnomAD
CA1969073 rs199772654	372	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1344193809 CA349311401	373	L>M		No	ClinGen TOPMed
CA1969074 rs754721416	377	S>F		No	ClinGen ExAC gnomAD
CA60722778 rs1049568919	380	G>C		No	ClinGen TOPMed gnomAD
CA1969077 rs144110182	382	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA349311464 rs1574534031	383	T>A		No	ClinGen Ensembl
CA1969078 rs773151937	384	D>V		No	ClinGen ExAC gnomAD
rs770819701 CA1969080	385	A>T		No	ClinGen ExAC gnomAD
rs774198146 CA1969081	386	V>L		No	ClinGen ExAC gnomAD
rs534232888 CA1969082	387	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA349311490 rs1174878802	387	I>T		No	ClinGen TOPMed gnomAD
rs764387815 CA1969083	388	Y>F		No	ClinGen ExAC gnomAD
rs1347370972 CA349311675	391	A>S		No	ClinGen gnomAD
CA1969101 rs770913335	393	S>L		No	ClinGen ExAC gnomAD
CA349311693 rs1282520874	394	T>I		No	ClinGen gnomAD
CA349311712 rs1574540872	397	I>T		No	ClinGen Ensembl
CA1969103 rs745678398	397	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	398	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1480105554 CA349311746	402	V>A		No	ClinGen gnomAD
rs771723426 CA1969104	403	Y>C		No	ClinGen ExAC gnomAD
rs1199334636 CA349311761	404	N>K		No	ClinGen gnomAD
CA349311759 rs1489947812	404	N>S		No	ClinGen gnomAD
CA60724227 rs201826243	407	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA1969105 rs200554249	407	A>V		No	ClinGen 1000Genomes ExAC
CA60724240 VAR_042295 rs34250425	412	N>T		No	ClinGen UniProt TOPMed dbSNP gnomAD
CA60724259 rs987395525	416	E>K		No	ClinGen TOPMed
rs1372758179 CA349311860	418	D>G		No	ClinGen TOPMed gnomAD
rs199761306 CA1969109	422	V>I		No	ClinGen ExAC TOPMed gnomAD
rs200003204 CA1969111	423	P>H		No	ClinGen 1000Genomes ExAC gnomAD
CA1969112 rs147096480	424	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA349311908 rs1215887270	425	R>K		No	ClinGen TOPMed gnomAD
CA349311923 rs1292785010	427	P>S		No	ClinGen gnomAD
rs1292785010 CA349311922	427	P>T		No	ClinGen gnomAD
CA349311944 rs767818773	430	M>L		No	ClinGen ExAC gnomAD
CA1969113 rs767818773	430	M>V		No	ClinGen ExAC gnomAD
CA1969114 COSM307096 rs753072433	431	T>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1969115 rs755784573	432	T>M		No	ClinGen ExAC gnomAD
rs982748518 COSM1009607 CA349311972	434	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA60724357 rs982748518	434	R>L		No	ClinGen TOPMed gnomAD
CA349311969 rs1487117521	434	R>S		No	ClinGen TOPMed gnomAD
CA1969117 rs753359605	435	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1424427301 CA349311981	436	A>T		No	ClinGen gnomAD

No associated diseases with Q15118

28 regional properties for Q15118

Type	Name	Position	InterPro Accession
domain	K Homology domain	149 - 217	IPR004087-1
domain	K Homology domain	221 - 289	IPR004087-2
domain	K Homology domain	294 - 362	IPR004087-3
domain	K Homology domain	363 - 429	IPR004087-4
domain	K Homology domain	434 - 502	IPR004087-5
domain	K Homology domain	506 - 575	IPR004087-6
domain	K Homology domain	580 - 648	IPR004087-7
domain	K Homology domain	652 - 721	IPR004087-8
domain	K Homology domain	726 - 795	IPR004087-9
domain	K Homology domain	799 - 868	IPR004087-10
domain	K Homology domain	872 - 972	IPR004087-11
domain	K Homology domain	973 - 1039	IPR004087-12
domain	K Homology domain	1051 - 1122	IPR004087-13
domain	K Homology domain	1126 - 1195	IPR004087-14
domain	K Homology domain, type 1	154 - 212	IPR004088-1
domain	K Homology domain, type 1	225 - 285	IPR004088-2
domain	K Homology domain, type 1	298 - 357	IPR004088-3
domain	K Homology domain, type 1	368 - 425	IPR004088-4
domain	K Homology domain, type 1	438 - 498	IPR004088-5
domain	K Homology domain, type 1	512 - 571	IPR004088-6
domain	K Homology domain, type 1	584 - 644	IPR004088-7
domain	K Homology domain, type 1	656 - 717	IPR004088-8
domain	K Homology domain, type 1	732 - 791	IPR004088-9
domain	K Homology domain, type 1	805 - 865	IPR004088-10
domain	K Homology domain, type 1	877 - 968	IPR004088-11
domain	K Homology domain, type 1	974 - 1033	IPR004088-12
domain	K Homology domain, type 1	1056 - 1118	IPR004088-13
domain	K Homology domain, type 1	1131 - 1191	IPR004088-14

Functions

		Description
EC Number	2.7.11.2	Protein-serine/threonine kinases
Subcellular Localization	Mitochondrion matrix
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
mitochondrial pyruvate dehydrogenase complex	Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA in eukaryotes; includes subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). The This Eukaryotic form usually contains more subunits than its bacterial counterpart; for example, one known complex contains 30 E1 dimers, 60 E2 monomers, and 6 E3 dimers as well as a few copies of pyruvate dehydrogenase kinase and pyruvate dehydrogenase phosphatase.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

3 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
pyruvate dehydrogenase (acetyl-transferring) kinase activity	Catalysis of the reaction: ATP + pyruvate dehydrogenase (acetyl-transferring) = ADP + pyruvate dehydrogenase (acetyl-transferring) phosphate.

7 GO annotations of biological process

Name	Definition
cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.
glucose metabolic process	The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides.
hypoxia-inducible factor-1alpha signaling pathway	The series of molecular signals mediated by hypoxia-inducible factor (HIF1) in response to lowered oxygen levels (hypoxia). Under hypoxic conditions, the oxygen-sensitive alpha-subunit of hypoxia-inducible factor (HIF)-1 dimerizes with a HIF1-beta subunit (also called ARNT or aryl-hydrocarbon-receptor nuclear translocator), translocates to the nucleus and activates transcription of genes whose products participate in responding to hypoxia.
intrinsic apoptotic signaling pathway in response to oxidative stress	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, and ends when the execution phase of apoptosis is triggered.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of acetyl-CoA biosynthetic process from pyruvate	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of acetyl-CoA from pyruvate.
regulation of glucose metabolic process	Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q15120	PDK3	[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial	Homo sapiens (Human)	PR
O55028	Bckdk	[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial	Mus musculus (Mouse)	PR
Q00972	Bckdk	[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MRLARLLRGA	ALAGPGPGLR	AAGFSRSFSS	DSGSSPASER	GVPGQVDFYA	RFSPSPLSMK
70	80	90	100	110	120
QFLDFGSVNA	CEKTSFMFLR	QELPVRLANI	MKEISLLPDN	LLRTPSVQLV	QSWYIQSLQE
130	140	150	160	170	180
LLDFKDKSAE	DAKAIYDFTD	TVIRIRNRHN	DVIPTMAQGV	IEYKESFGVD	PVTSQNVQYF
190	200	210	220	230	240
LDRFYMSRIS	IRMLLNQHSL	LFGGKGKGSP	SHRKHIGSIN	PNCNVLEVIK	DGYENARRLC
250	260	270	280	290	300
DLYYINSPEL	ELEELNAKSP	GQPIQVVYVP	SHLYHMVFEL	FKNAMRATME	HHANRGVYPP
310	320	330	340	350	360
IQVHVTLGNE	DLTVKMSDRG	GGVPLRKIDR	LFNYMYSTAP	RPRVETSRAV	PLAGFGYGLP
370	380	390	400	410	420
ISRLYAQYFQ	GDLKLYSLEG	YGTDAVIYIK	ALSTDSIERL	PVYNKAAWKH	YNTNHEADDW
430
CVPSREPKDM	TTFRSA