AiPD: Autoinhibited Protein Database

P50750

Gene name	CDK9
Protein name	Cyclin-dependent kinase 9
Names	C-2K, Cell division cycle 2-like protein kinase 4, Cell division protein kinase 9, Serine/threonine-protein kinase PITALRE, Tat-associated kinase complex catalytic subunit
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1025
EC number	2.7.11.22: Protein-serine/threonine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

291-372 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

291-372 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

166-193 (Activation loop from InterPro)

Target domain	19-315 (Protein kinase domain)
Relief mechanism
Assay

References

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

Autoinhibited structure

Activated structure

29 structures for P50750

Entry ID	Method	Resolution	Chain	Position	Source
3BLH	X-ray	248 A	A	2-330	PDB
3BLQ	X-ray	290 A	A	2-330	PDB
3BLR	X-ray	280 A	A	2-330	PDB
3LQ5	X-ray	300 A	A	2-330	PDB
3MI9	X-ray	210 A	A	1-345	PDB
3MIA	X-ray	300 A	A	1-345	PDB
3MY1	X-ray	280 A	A	2-330	PDB
3TN8	X-ray	295 A	A	2-330	PDB
3TNH	X-ray	320 A	A	2-330	PDB
3TNI	X-ray	323 A	A	2-330	PDB
4BCF	X-ray	301 A	A	2-330	PDB
4BCG	X-ray	308 A	A	2-330	PDB
4BCH	X-ray	296 A	A	2-330	PDB
4BCI	X-ray	310 A	A	2-330	PDB
4BCJ	X-ray	316 A	A	2-330	PDB
4EC8	X-ray	360 A	A	2-372	PDB
4EC9	X-ray	321 A	A	2-372	PDB
4IMY	X-ray	294 A	A/C/E	1-330	PDB
4OGR	X-ray	300 A	A/E/I	1-330	PDB
4OR5	X-ray	290 A	A/F	7-332	PDB
5L1Z	X-ray	590 A	A	1-330	PDB
6CYT	X-ray	350 A	A	1-330	PDB
6GZH	X-ray	317 A	A	1-326	PDB
6W9E	X-ray	310 A	A	1-330	PDB
6Z45	X-ray	337 A	A	1-330	PDB
7NWK	X-ray	281 A	A	1-330	PDB
8I0L	X-ray	360 A	A	2-330	PDB
8K5R	X-ray	375 A	A	1-330	PDB
AF-P50750-F1	Predicted				AlphaFoldDB

252 variants for P50750

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5251564 rs758230646	2	A>E		No	ClinGen ExAC gnomAD
CA374994729 rs1290827114	2	A>T		No	ClinGen gnomAD
TCGA novel	3	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374994760 rs1239571832	4	Q>E		No	ClinGen TOPMed
rs777792275 CA5251565	5	Y>*		No	ClinGen ExAC gnomAD
CA374994780 rs1231461003	5	Y>H		No	ClinGen gnomAD
COSM1187819 rs746864836 CA5251566	7	S>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA200314040 rs566144307	9	E>A		No	ClinGen Ensembl
rs1251086320 CA374994864	10	C>G		No	ClinGen gnomAD
rs1456763070 CA374994892	11	P>H		No	ClinGen TOPMed gnomAD
rs1456763070 CA374994898	11	P>L		No	ClinGen TOPMed gnomAD
rs781197980 CA5251568	17	S>F		No	ClinGen ExAC gnomAD
CA374995041 rs1378710886	19	Y>*		No	ClinGen TOPMed
rs770049111 CA5251570	22	L>F		No	ClinGen ExAC TOPMed gnomAD
CA374995091 rs770049111	22	L>V		No	ClinGen ExAC TOPMed gnomAD
CA374995101 rs1427479508	23	A>T		No	ClinGen gnomAD
CA200314047 rs146765767	24	K>R		No	ClinGen ESP TOPMed gnomAD
rs1243073913 CA374995402	32	E>K		No	ClinGen gnomAD
rs1588537476 CA374995434	33	V>G		No	ClinGen Ensembl
CA374995426 rs1474729591	33	V>L		No	ClinGen TOPMed
CA374995486 rs779167622	36	A>D		No	ClinGen ExAC TOPMed gnomAD
CA5251612 rs779167622	36	A>G		No	ClinGen ExAC TOPMed gnomAD
rs988782815 CA200314381	37	R>G		No	ClinGen TOPMed
rs1283944680 CA374995534	39	R>C		No	ClinGen gnomAD
CA200314385 rs914635422	39	R>P		No	ClinGen TOPMed
rs1292765835 CA374995546	40	K>Q		No	ClinGen gnomAD
rs905857521 CA200314388	41	T>S		No	ClinGen Ensembl
CA5251616 rs747453571	42	G>V		No	ClinGen ExAC gnomAD
rs1588537494 CA374995646	45	V>G		No	ClinGen Ensembl
rs761040673 CA200314396	50	V>G		No	ClinGen gnomAD
TCGA novel	52	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374995704 rs1375660584	54	N>H		No	ClinGen Ensembl
TCGA novel	54	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149950953 CA5251620	58	G>R		No	ClinGen ESP ExAC gnomAD
CA5251621 rs149950953	58	G>W		No	ClinGen ESP ExAC gnomAD
VAR_041982 CA5251652 rs55640715	59	F>L		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1466578290 CA374996975	60	P>R		No	ClinGen gnomAD
CA374996986 rs1293514453	61	I>V		No	ClinGen gnomAD
rs376698069 CA5251655	64	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA200314791 rs1014267439	65	R>Q		No	ClinGen TOPMed gnomAD
CA374997020 rs1340146157	65	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5251656 rs752013238	70	L>F		No	ClinGen ExAC gnomAD
rs1243972549 CA374997083	72	L>F		No	ClinGen gnomAD
CA5251658 rs781568641	76	E>K		No	ClinGen ExAC gnomAD
CA200314797 rs897679803	80	N>H		No	ClinGen Ensembl
rs746324387 CA5251659	80	N>K		No	ClinGen ExAC gnomAD
TCGA novel	80	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1426209808 CA374997171	81	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA200314799 rs993418398	82	I>T		No	ClinGen gnomAD
rs1588538142 CA374997192	83	E>D		No	ClinGen Ensembl
rs754446615 CA5251660	86	R>*		No	ClinGen ExAC gnomAD
rs371317161 CA5251661	86	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA5251662 rs141709101	87	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs754288051 CA5251696	91	P>S		No	ClinGen ExAC gnomAD
rs749596460 CA5251697	92	Y>C		No	ClinGen ExAC gnomAD
COSM673978 rs751056570 CA5251699	94	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs1261382989 CA374997361	98	S>G		No	ClinGen gnomAD
CA374997372 rs1432801599	99	I>V		No	ClinGen TOPMed gnomAD
CA5251702 rs745709237	104	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5251705 rs147073375	108	H>R		No	ClinGen ESP ExAC gnomAD
rs774630568 CA5251707	110	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1257939333 CA374997521	115	S>G		No	ClinGen gnomAD
CA5251708 rs761776626	116	N>D		No	ClinGen ExAC gnomAD
rs772377103 CA5251709	123	L>R		No	ClinGen ExAC TOPMed gnomAD
CA374997605 rs1564433006	124	S>P		No	ClinGen Ensembl
rs1472739092 CA374997625	126	I>L		No	ClinGen TOPMed gnomAD
rs199885166 CA5251713	128	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531446315 CA200314955	131	Q>*		No	ClinGen Ensembl
rs776976149 CA5251716	132	M>V		No	ClinGen ExAC TOPMed gnomAD
rs562638413 CA5251718	136	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs755939591 CA5251723	140	I>V		No	ClinGen ExAC gnomAD
rs1412326548	145	I>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5251749 rs771187222	147	H>Y		No	ClinGen ExAC gnomAD
rs746257072 CA5251751	149	D>N		No	ClinGen ExAC gnomAD
rs1318493395 CA374997809	150	M>R		No	ClinGen TOPMed
rs1404594512 CA374997813	151	K>Q		No	ClinGen gnomAD
CA374997827 rs1383542677	153	A>T		No	ClinGen gnomAD
rs1239547944 CA374997841	155	V>M		No	ClinGen gnomAD
rs1158106390 CA374997849	156	L>F		No	ClinGen TOPMed
rs763433765 CA5251754	157	I>N		No	ClinGen ExAC gnomAD
rs1588538597 CA374997860	158	T>A		No	ClinGen Ensembl
rs1356089042 CA374997863	158	T>S		No	ClinGen gnomAD
rs1419886224 CA374997866	159	R>C		No	ClinGen TOPMed
CA5251755 rs769188538	159	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769188538 CA374997868	159	R>P		No	ClinGen ExAC TOPMed gnomAD
rs772642497 CA5251756	160	D>V		No	ClinGen ExAC TOPMed gnomAD
rs760231401 CA5251757	161	G>R		No	ClinGen ExAC gnomAD
TCGA novel	162	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374997896 rs1237129942	164	K>T		No	ClinGen TOPMed
CA374997910 rs1176271577	166	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1381667644 CA374997920	168	F>I		No	ClinGen gnomAD
CA200314996 rs764781911	172	R>Q		No	ClinGen TOPMed gnomAD
CA5251758 rs766161082	172	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1197895718 CA374997971	176	L>V		No	ClinGen gnomAD
TCGA novel	178	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	182	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5251763 rs758316825	182	P>S		No	ClinGen ExAC gnomAD
rs777735060 CA5251764	185	Y>C		No	ClinGen ExAC gnomAD
rs950843863 CA200315003	187	N>S		No	ClinGen Ensembl
CA374998077 rs757281821	192	L>F		No	ClinGen ExAC gnomAD
CA5251766 rs757281821	192	L>V		No	ClinGen ExAC gnomAD
rs148342102 CA374998081 CA5251768	193	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5251769 rs766316927	195	R>Q		No	ClinGen ExAC gnomAD
rs865941710 CA200315008	195	R>W		No	ClinGen Ensembl
CA374998111 rs1465554087	197	P>L		No	ClinGen gnomAD
CA374998110 rs1465554087	197	P>R		No	ClinGen gnomAD
CA5251773 rs774881075	201	L>P		No	ClinGen ExAC gnomAD
rs1270270686 CA374998134	201	L>V		No	ClinGen TOPMed
rs1424183824 CA374998152	202	G>A		No	ClinGen TOPMed gnomAD
CA5251775 COSM1460133 rs770506343	202	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745340199 CA5251800	203	E>*		No	ClinGen ExAC gnomAD
CA374998157 rs1362470829	203	E>G		No	ClinGen gnomAD
CA5251801 rs373394121	204	R>W		No	ClinGen ESP ExAC gnomAD
rs775163113 CA5251802	206	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1310495867 CA374998175	206	Y>H		No	ClinGen gnomAD
rs763885651 CA5251804	207	G>S		No	ClinGen ExAC TOPMed gnomAD
CA374998192 rs371033254	209	P>S		No	ClinGen gnomAD
rs371033254 CA200315091	209	P>T		No	ClinGen gnomAD
rs755440676	210	I>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs755440676	210	I>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1217556836 CA374998196	210	I>V		No	ClinGen gnomAD
CA374998211 rs1262847634	212	L>M		No	ClinGen TOPMed gnomAD
CA374998235 rs1179525505	215	A>G		No	ClinGen TOPMed
CA374998241 rs1446469808	216	G>A		No	ClinGen gnomAD
rs1241846326 CA374998237	216	G>R		No	ClinGen gnomAD
rs1241846326 CA374998239	216	G>W		No	ClinGen gnomAD
rs1379816585 CA374998243	217	C>G		No	ClinGen gnomAD
CA374998272 rs1345500468	220	A>V		No	ClinGen gnomAD
rs1253842556 CA374998275	221	E>*		No	ClinGen TOPMed
rs1465373889 CA374998287	222	M>I		No	ClinGen gnomAD
CA374998303 rs1300964249	224	T>S		No	ClinGen gnomAD
CA5251809 rs767418586 VAR_082140	225	R>C	Variant assessed as Somatic; 0.0 impact. found in patients with global developmental delay and epilepsy with history of choanal atresia; unknown pathological significance [NCI-TCGA, UniProt]	No	ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA5251810 rs750537619	225	R>H		No	ClinGen ExAC gnomAD
CA200315108 rs767418586	225	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1317836668 CA374998333	229	M>T		No	ClinGen gnomAD
VAR_013456	231	G>A		No	UniProt
CA374998351 rs1261706276	231	G>D		No	ClinGen gnomAD
CA374998346 rs1564433291	231	G>S		No	ClinGen Ensembl
CA374998364 rs141577691	233	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5251814 rs141577691	233	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1564433307 CA374998378	235	Q>R		No	ClinGen Ensembl
CA5251817 rs372825047	237	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA374998389 rs372825047	237	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5251820 rs11554104	239	A>S		No	ClinGen ExAC TOPMed gnomAD
rs11554104 CA200315135	239	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA374998413 rs1431221428	241	I>V		No	ClinGen gnomAD
CA5251822 rs775012342	242	S>G		No	ClinGen ExAC gnomAD
CA374998428 rs1397413665	243	Q>*		No	ClinGen gnomAD
TCGA novel	245	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768177225 CA374998448	246	G>R		No	ClinGen ExAC TOPMed gnomAD
rs768177225 CA5251824	246	G>S		No	ClinGen ExAC TOPMed gnomAD
CA374998459 rs1588538886	248	I>L		No	ClinGen Ensembl
rs774177908 CA5251825	249	T>S		No	ClinGen ExAC gnomAD
CA374998471 rs761561096	250	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1257998616 CA374998474	250	P>R		No	ClinGen gnomAD
rs761561096 CA5251826	250	P>S		No	ClinGen ExAC TOPMed gnomAD
CA374998472 rs761561096	250	P>T		No	ClinGen ExAC TOPMed gnomAD
rs770932885 CA5251867	252	V>A		No	ClinGen ExAC gnomAD
rs1156517816 CA374998507	253	W>*		No	ClinGen gnomAD
rs776385767 CA5251868	254	P>S		No	ClinGen ExAC gnomAD
CA374998524 rs769930999	256	V>L		No	ClinGen ExAC gnomAD
rs769930999 CA5251870	256	V>M		No	ClinGen ExAC gnomAD
CA374998532 rs1588539183	257	D>G		No	ClinGen Ensembl
rs1406035499 CA374998528	257	D>N		No	ClinGen TOPMed gnomAD
rs775710179 CA5251871	258	N>H		No	ClinGen ExAC gnomAD
rs763329642 CA374998539	258	N>I		No	ClinGen ExAC gnomAD
rs763329642 CA5251872	258	N>S		No	ClinGen ExAC gnomAD
rs775710179 CA374998537	258	N>Y		No	ClinGen ExAC gnomAD
rs751991570 CA5251875	263	E>K		No	ClinGen ExAC gnomAD
rs751991570 CA5251874	263	E>Q		No	ClinGen ExAC gnomAD
CA374998586 rs1436815577	265	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA200315474 rs763851751	267	L>P		No	ClinGen Ensembl
rs768088819 CA5251876	268	V>A		No	ClinGen ExAC
rs768690569 CA200315479	270	G>C		No	ClinGen Ensembl
CA374998621 rs1564433574	271	Q>*		No	ClinGen Ensembl
TCGA novel	271	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1243217909 CA374998637	273	R>Q		No	ClinGen gnomAD
COSM1105407 rs376244572 CA5251878	273	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs1588539233 CA374998653	275	V>G		No	ClinGen Ensembl
CA374998690 rs1365208357	281	A>T		No	ClinGen gnomAD
CA5251882 rs758087169	283	V>G		No	ClinGen ExAC TOPMed gnomAD
rs370938433 COSM1460136 CA200315487	284	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA
CA374998727 rs1564433598	286	P>L		No	ClinGen Ensembl
rs1206439670 CA590939019	287	Y>*		No	ClinGen gnomAD
rs781196606 CA374998737	288	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781196606 CA5251886	288	A>T		No	ClinGen ExAC TOPMed gnomAD
CA374998740 rs1218758923	288	A>V		No	ClinGen TOPMed
rs745870791 CA5251887	289	L>P		No	ClinGen ExAC gnomAD
rs775765477 CA5251889	293	D>H		No	ClinGen ExAC gnomAD
rs775765477 CA5251890	293	D>N		No	ClinGen ExAC gnomAD
rs774385639 CA5251892	294	K>M		No	ClinGen ExAC gnomAD
CA5251894 rs145977259	298	L>P		No	ClinGen ESP ExAC gnomAD
CA374998802 rs1588539291	299	D>A		No	ClinGen Ensembl
CA374998806 rs1230213286	299	D>E		No	ClinGen TOPMed
rs773619937 CA5251895	300	P>S		No	ClinGen ExAC gnomAD
rs761228208 CA5251896	302	Q>R		No	ClinGen ExAC gnomAD
rs139856271 CA5251898	304	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5251897 rs766848600	304	I>V		No	ClinGen ExAC gnomAD
rs763822642 CA5251900	306	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA374998918 rs1430649434	309	A>P		No	ClinGen gnomAD
TCGA novel	309	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1461954326 CA374998929	310	L>F		No	ClinGen gnomAD
CA374998979 rs1564433653	314	F>V		No	ClinGen Ensembl
rs1564433655 CA374998983	314	F>Y		No	ClinGen Ensembl
CA200315499 rs868437001	318	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1362073818 CA374999044	319	P>T		No	ClinGen TOPMed gnomAD
rs1302788481 CA374999066	320	M>I		No	ClinGen gnomAD
rs756164503 CA5251905	321	P>L		No	ClinGen ExAC gnomAD
CA5251907 rs749397034	322	S>P		No	ClinGen ExAC gnomAD
CA5251909 rs774633888 COSM48296	323	D>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA374999113 rs1588539341	325	K>E		No	ClinGen Ensembl
rs1339484627 CA374999119	325	K>R		No	ClinGen gnomAD
CA374999129 rs1564433682	326	G>D		No	ClinGen Ensembl
CA200315511 rs1004550576	327	M>I		No	ClinGen TOPMed gnomAD
TCGA novel	328	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374999156 rs1289167649	328	L>P		No	ClinGen gnomAD
rs1588539353 CA374999168	330	T>P		No	ClinGen Ensembl
rs1451159017 CA374999180	331	H>Y		No	ClinGen TOPMed gnomAD
CA374999203 rs1489949745	333	T>M		No	ClinGen gnomAD
CA374999238 rs1428423917	336	F>S		No	ClinGen gnomAD
rs760988808 CA5251913	337	E>V		No	ClinGen ExAC gnomAD
CA374999311 rs1363983638	342	P>L		No	ClinGen gnomAD
TCGA novel	344	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1426836717 CA374999328	344	R>Q		No	ClinGen gnomAD
rs1218615279 CA374999351	346	G>A		No	ClinGen TOPMed
CA374999350 rs1218615279	346	G>D		No	ClinGen TOPMed
CA5251916 rs762456826	346	G>S		No	ClinGen ExAC gnomAD
rs763581624 CA5251917	347	S>N		No	ClinGen ExAC gnomAD
CA5251919 rs756913144	349	I>V		No	ClinGen ExAC gnomAD
TCGA novel	352	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5251920 rs200376810	354	T>A		No	ClinGen ExAC TOPMed gnomAD
CA374999441 rs200376810	354	T>S		No	ClinGen ExAC TOPMed gnomAD
rs755920229 CA5251922	355	N>K		No	ClinGen ExAC TOPMed gnomAD
CA374999480 rs1222840513	357	S>T		No	ClinGen gnomAD
rs780150586 CA5251923	358	R>C		No	ClinGen ExAC TOPMed gnomAD
rs753758776 CA5251924	358	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754937212 CA5251925	359	N>S		No	ClinGen ExAC gnomAD
rs778916606 CA5251927	360	P>A		No	ClinGen ExAC gnomAD
CA5251928 rs748237241	360	P>L		No	ClinGen ExAC gnomAD
rs777924310 CA5251930	361	A>T		No	ClinGen ExAC gnomAD
rs747387277 CA5251931	362	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1362949448 CA374999533	362	T>I		No	ClinGen gnomAD
CA374999526 rs747387277	362	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1451386730 CA374999538	363	T>A		No	ClinGen gnomAD
CA374999540 rs771220295	363	T>N		No	ClinGen ExAC gnomAD
CA5251932 rs771220295	363	T>S		No	ClinGen ExAC gnomAD
rs776977894 CA5251933	366	T>M		No	ClinGen ExAC TOPMed gnomAD
CA5251935 rs201475786	368	F>I		No	ClinGen 1000Genomes ExAC gnomAD
CA374999623 rs1384441244	370	R>C		No	ClinGen gnomAD
rs1246168747 CA374999624	370	R>H	Variant assessed as Somatic; 4.67e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5251937 rs761350967	371	V>I		No	ClinGen ExAC gnomAD
TCGA novel	373	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with P50750

5 regional properties for P50750

Type	Name	Position	InterPro Accession
conserved_site	Helix-turn-helix motif	124 - 149	IPR000047
domain	Homeobox domain	93 - 157	IPR001356
conserved_site	Homeobox, conserved site	128 - 151	IPR017970
domain	Homeobox domain, metazoa	117 - 128	IPR020479-1
domain	Homeobox domain, metazoa	132 - 151	IPR020479-2

Functions

		Description
EC Number	2.7.11.22	Protein-serine/threonine kinases
Subcellular Localization	Nucleus Cytoplasm Nucleus, PML body	Accumulates on chromatin in response to replication stress Complexed with CCNT1 in nuclear speckles, but uncomplexed form in the cytoplasm The translocation from nucleus to cytoplasm is XPO1/CRM1-dependent Associates with PML body when acetylated
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
cyclin/CDK positive transcription elongation factor complex	A transcription elongation factor complex that facilitates the transition from abortive to productive elongation by phosphorylating the CTD domain of the large subunit of DNA-directed RNA polymerase II, holoenzyme. Contains a cyclin and a cyclin-dependent protein kinase catalytic subunit.
cytoplasmic ribonucleoprotein granule	A ribonucleoprotein granule located in the cytoplasm.
mediator complex	A protein complex that interacts with the carboxy-terminal domain of the largest subunit of RNA polymerase II and plays an active role in transducing the signal from a transcription factor to the transcriptional machinery. The mediator complex is required for activation of transcription of most protein-coding genes, but can also act as a transcriptional corepressor. The Saccharomyces complex contains several identifiable subcomplexes: a head domain comprising Srb2, -4, and -5, Med6, -8, and -11, and Rox3 proteins; a middle domain comprising Med1, -4, and -7, Nut1 and -2, Cse2, Rgr1, Soh1, and Srb7 proteins; a tail consisting of Gal11p, Med2p, Pgd1p, and Sin4p; and a regulatory subcomplex comprising Ssn2, -3, and -8, and Srb8 proteins. Metazoan mediator complexes have similar modular structures and include homologs of yeast Srb and Med proteins.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
P-TEFb complex	A dimeric positive transcription elongation factor complex b that comprises a cyclin-dependent kinase containing the catalytic subunit, Cdk9, and a regulatory subunit, cyclin T.
PML body	A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.
transcription elongation factor complex	Any protein complex that interacts with RNA polymerase II to increase (positive transcription elongation factor) or reduce (negative transcription elongation factor) the rate of transcription elongation.

12 GO annotations of molecular function

Name	Definition
7SK snRNA binding	Binding to a 7SK small nuclear RNA (7SK snRNA).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
cyclin-dependent protein serine/threonine kinase activity	Cyclin-dependent catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
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.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
RNA polymerase II CTD heptapeptide repeat kinase activity	Catalysis of the reaction: ATP + RNA polymerase II large subunit CTD heptapeptide repeat (YSPTSPS) = ADP + H+ + phosphorylated RNA polymerase II.
transcription coactivator binding	Binding to a transcription coactivator, a protein involved in positive regulation of transcription via protein-protein interactions with transcription factors and other proteins that positively regulate transcription. Transcription coactivators do not bind DNA directly, but rather mediate protein-protein interactions between activating transcription factors and the basal transcription machinery.

22 GO annotations of biological process

Name	Definition
cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.
cellular response to cytokine stimulus	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 a cytokine stimulus.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
phosphorylation of RNA polymerase II C-terminal domain serine 2 residues involved in positive regulation of transcription elongation from RNA polymerase II promoter	Any phosphorylation of RNA polymerase II C-terminal domain serine 2 residues that is involved in positive regulation of transcription elongation from RNA polymerase II promoter.
phosphorylation of RNA polymerase II C-terminal domain serine 5 residues involved in positive regulation of transcription elongation from RNA polymerase II promoter	Any phosphorylation of RNA polymerase II C-terminal domain serine 5 residues that is involved in positive regulation of transcription elongation from RNA polymerase II promoter.
positive regulation by host of viral transcription	Any process in which a host organism activates or increases the frequency, rate or extent of viral transcription, the synthesis of either RNA on a template of DNA or DNA on a template of RNA.
positive regulation of cardiac muscle hypertrophy	Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division.
positive regulation of mRNA 3'-UTR binding	Any process that activates or increases the frequency, rate or extent of mRNA 3'-UTR binding.
positive regulation of protein localization to chromatin	Any process that activates or increases the frequency, rate or extent of protein localization to chromatin.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transcription elongation by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of DNA repair	Any process that modulates the frequency, rate or extent of DNA repair.
regulation of histone modification	Any process that modulates the frequency, rate or extent of the covalent alteration of a histone.
regulation of mRNA 3'-end processing	Any process that modulates the frequency, rate or extent of mRNA 3'-end processing, any process involved in forming the mature 3' end of an mRNA molecule.
regulation of muscle cell differentiation	Any process that modulates the frequency, rate or extent of muscle cell differentiation.
replication fork processing	The process in which a DNA replication fork that has stalled is restored to a functional state and replication is restarted. The stalling may be due to DNA damage, DNA secondary structure, bound proteins, dNTP shortage, or other causes.
response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).
transcription elongation by RNA polymerase II promoter	The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase II promoter by the addition of ribonucleotides catalyzed by RNA polymerase II.
transcription initiation at RNA polymerase II promoter	A transcription initiation process that takes place at a RNA polymerase II gene promoter. Messenger RNAs (mRNA) genes, as well as some non-coding RNAs, are transcribed by RNA polymerase II.

20 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5EAB2	CDK9	Cyclin-dependent kinase 9	Bos taurus (Bovine)	PR
Q5ZKN1	CDK9	Cyclin-dependent kinase 9	Gallus gallus (Chicken)	PR
Q15131	CDK10	Cyclin-dependent kinase 10	Homo sapiens (Human)	PR
Q9UQ88	CDK11A	Cyclin-dependent kinase 11A	Homo sapiens (Human)	PR
Q00526	CDK3	Cyclin-dependent kinase 3	Homo sapiens (Human)	PR
Q96Q40	CDK15	Cyclin-dependent kinase 15	Homo sapiens (Human)	PR
O94921	CDK14	Cyclin-dependent kinase 14	Homo sapiens (Human)	PR
Q00537	CDK17	Cyclin-dependent kinase 17	Homo sapiens (Human)	PR
P49336	CDK8	Cyclin-dependent kinase 8	Homo sapiens (Human)	PR
Q9BWU1	CDK19	Cyclin-dependent kinase 19	Homo sapiens (Human)	PR
Q5MAI5	CDKL4	Cyclin-dependent kinase-like 4	Homo sapiens (Human)	PR
Q00532	CDKL1	Cyclin-dependent kinase-like 1	Homo sapiens (Human)	PR
Q92772	CDKL2	Cyclin-dependent kinase-like 2	Homo sapiens (Human)	PR
Q8IZL9	CDK20	Cyclin-dependent kinase 20	Homo sapiens (Human)	PR
P21127	CDK11B	Cyclin-dependent kinase 11B	Homo sapiens (Human)	PR
Q99J95	Cdk9	Cyclin-dependent kinase 9	Mus musculus (Mouse)	PR
Q641Z4	Cdk9	Cyclin-dependent kinase 9	Rattus norvegicus (Rat)	PR
F4I114	At1g09600	Probable serine/threonine-protein kinase At1g09600	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9ZVM9	At1g54610	Probable serine/threonine-protein kinase At1g54610	Arabidopsis thaliana (Mouse-ear cress)	PR
Q6GLD8	cdk9	Cyclin-dependent kinase 9	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MAKQYDSVEC	PFCDEVSKYE	KLAKIGQGTF	GEVFKARHRK	TGQKVALKKV	LMENEKEGFP
70	80	90	100	110	120
ITALREIKIL	QLLKHENVVN	LIEICRTKAS	PYNRCKGSIY	LVFDFCEHDL	AGLLSNVLVK
130	140	150	160	170	180
FTLSEIKRVM	QMLLNGLYYI	HRNKILHRDM	KAANVLITRD	GVLKLADFGL	ARAFSLAKNS
190	200	210	220	230	240
QPNRYTNRVV	TLWYRPPELL	LGERDYGPPI	DLWGAGCIMA	EMWTRSPIMQ	GNTEQHQLAL
250	260	270	280	290	300
ISQLCGSITP	EVWPNVDNYE	LYEKLELVKG	QKRKVKDRLK	AYVRDPYALD	LIDKLLVLDP
310	320	330	340	350	360
AQRIDSDDAL	NHDFFWSDPM	PSDLKGMLST	HLTSMFEYLA	PPRRKGSQIT	QQSTNQSRNP
370
ATTNQTEFER	VF