AiPD: Autoinhibited Protein Database

P49336

Gene name	CDK8
Protein name	Cyclin-dependent kinase 8
Names	Cell division protein kinase 8, Mediator complex subunit CDK8, Mediator of RNA polymerase II transcription subunit CDK8, Protein kinase K35
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1024
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)

1-48 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-48 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

172-198 (Activation loop from InterPro)

Target domain	21-335 (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

32 structures for P49336

Entry ID	Method	Resolution	Chain	Position	Source
3RGF	X-ray	220 A	A	1-403	PDB
4CRL	X-ray	240 A	A	1-403	PDB
4F6S	X-ray	260 A	A	1-403	PDB
4F6U	X-ray	210 A	A	1-403	PDB
4F6W	X-ray	239 A	A	1-403	PDB
4F70	X-ray	300 A	A	1-403	PDB
4F7J	X-ray	260 A	A	1-403	PDB
4F7L	X-ray	290 A	A	1-403	PDB
4F7N	X-ray	265 A	A	1-403	PDB
4F7S	X-ray	220 A	A	1-403	PDB
4G6L	X-ray	270 A	A	1-403	PDB
5BNJ	X-ray	264 A	A	1-403	PDB
5CEI	X-ray	224 A	A	1-403	PDB
5FGK	X-ray	236 A	A	1-362	PDB
5HBE	X-ray	238 A	A	1-362	PDB
5HBH	X-ray	250 A	A	1-362	PDB
5HBJ	X-ray	300 A	A	1-362	PDB
5HNB	X-ray	235 A	A	1-362	PDB
5HVY	X-ray	239 A	A	1-403	PDB
5I5Z	X-ray	260 A	A	1-362	PDB
5ICP	X-ray	218 A	A	1-362	PDB
5IDN	X-ray	226 A	A	1-364	PDB
5IDP	X-ray	265 A	A	1-364	PDB
5XQX	X-ray	230 A	A	1-371	PDB
5XS2	X-ray	204 A	A	1-371	PDB
6QTG	X-ray	270 A	A	1-403	PDB
6QTJ	X-ray	248 A	A	1-403	PDB
6R3S	X-ray	219 A	A	1-403	PDB
6T41	X-ray	245 A	A	1-404	PDB
6TPA	X-ray	280 A	A	1-403	PDB
6Y0A	X-ray	219 A	A	1-403	PDB
AF-P49336-F1	Predicted				AlphaFoldDB

201 variants for P49336

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_083786	27	V>L	IDDHBA; decreased protein kinase activity [UniProt]	Yes	UniProt
CA387629863 VAR_083787 rs1593218885 RCV000993855	29	R>G	Intellectual developmental disorder with hypotonia and behavioral abnormalities IDDHBA; decreased protein kinase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000993856 rs1593218890 VAR_083788 CA387629869	30	G>S	Intellectual developmental disorder with hypotonia and behavioral abnormalities IDDHBA; decreased protein kinase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000778069 rs1565977796 CA387682577	62	S>*	Ebstein anomaly [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000993854 CA387682576 rs1565977796 VAR_083789	62	S>L	Intellectual developmental disorder with hypotonia and behavioral abnormalities IDDHBA; decreased protein kinase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_083790	97	F>L	IDDHBA; unknown pathological significance [UniProt]	Yes	UniProt
rs1011754140 RCV001262767 CA247506536	160	M>T	Intellectual developmental disorder with hypotonia and behavioral abnormalities [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_083791 CA387685202 COSM3936280 rs1418353379	178	R>Q	oesophagus IDDHBA; decreased protein kinase activity [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt dbSNP gnomAD
RCV000993857 rs1875421510 VAR_083792	193	V>G	Intellectual developmental disorder with hypotonia and behavioral abnormalities IDDHBA; decreased protein kinase activity [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
rs1875421918 RCV001290425	196	T>I	Intellectual developmental disorder with hypotonia and behavioral abnormalities [ClinVar]	Yes	ClinVar dbSNP
rs1875422697 RCV001091523 RCV001842610	200	R>Q	Intellectual developmental disorder with hypotonia and behavioral abnormalities [ClinVar]	Yes	ClinVar dbSNP
VAR_083793 CA387684579 rs1593310364 RCV000993858	223	I>M	Intellectual developmental disorder with hypotonia and behavioral abnormalities IDDHBA; decreased protein kinase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1434045513 CA387629685	3	Y>C		No	ClinGen TOPMed gnomAD
rs755326167 CA6924355	3	Y>N		No	ClinGen ExAC gnomAD
rs1483755031 CA387629745	11	S>I		No	ClinGen TOPMed
CA387629754 rs1456620345	12	E>D		No	ClinGen TOPMed gnomAD
rs1159755211 CA387629761	14	E>K		No	ClinGen gnomAD
rs748339905 CA6924357	15	R>L		No	ClinGen ExAC TOPMed gnomAD
rs867379549 CA247201279	16	V>A		No	ClinGen Ensembl
rs1388190036 CA387629785	17	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs773446688 CA6924360	18	D>N		No	ClinGen ExAC gnomAD
CA6924361 rs747042280	19	L>V		No	ClinGen ExAC TOPMed gnomAD
CA387629804 rs1334309560	20	F>L		No	ClinGen TOPMed
CA387629819 rs1269242944	22	Y>*		No	ClinGen gnomAD
CA387629827 rs1319270382	23	E>D		No	ClinGen gnomAD
TCGA novel	27	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001091522 rs1593218890	30	G>C		No	ClinVar dbSNP
TCGA novel	36	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363407568 CA387629940	40	R>K		No	ClinGen gnomAD
TCGA novel	41	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387629961 rs1201929016	43	G>R		No	ClinGen gnomAD
rs890646500 CA247484853	45	D>N		No	ClinGen TOPMed
TCGA novel	46	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387682348 rs1593272690	46	D>V		No	ClinGen Ensembl
CA387682375 rs1593272694	48	D>N		No	ClinGen Ensembl
TCGA novel	52	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	52	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1445847811 CA387682564	61	M>V		No	ClinGen gnomAD
TCGA novel	63	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387682619 rs1430089499	68	A>V		No	ClinGen gnomAD
COSM1200581 rs769996123 CA6924405	71	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA387683424 rs1292451469	74	K>E		No	ClinGen TOPMed
CA247491089 rs370472221	74	K>R		No	ClinGen ESP TOPMed gnomAD
CA6924407 rs748157192	76	P>A		No	ClinGen ExAC TOPMed gnomAD
CA387683438 rs748157192	76	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1464924755 CA387683445	77	N>H		No	ClinGen gnomAD
rs770441977 CA6924411	78	V>F		No	ClinGen ExAC gnomAD
rs997541090 CA247491118	81	L>F		No	ClinGen TOPMed
CA387683508 rs1477525717	86	L>R		No	ClinGen gnomAD
rs758981665 CA6924413	88	H>L		No	ClinGen ExAC gnomAD
TCGA novel	90	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775970345 CA6924415	92	K>N		No	ClinGen ExAC gnomAD
TCGA novel	97	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387683586 rs1329555029	98	D>Y		No	ClinGen gnomAD
rs1436081889 CA387683615	102	H>Y		No	ClinGen gnomAD
rs769263310 CA6924436	107	I>V		No	ClinGen ExAC gnomAD
rs1309995683 CA387683675	108	I>T		No	ClinGen gnomAD
rs1482433320 CA387683697	111	H>P		No	ClinGen TOPMed
rs1481900029 CA387683717	114	S>A		No	ClinGen gnomAD
TCGA novel	117	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387683758 rs1249302323	119	K>N		No	ClinGen TOPMed
CA387683761 rs1203446076	120	P>S		No	ClinGen gnomAD
TCGA novel	122	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387683791 rs1234935912	124	P>L		No	ClinGen TOPMed
CA6924437 rs775029551	125	R>Q		No	ClinGen ExAC gnomAD
rs1420185002 CA387683801	126	G>R		No	ClinGen gnomAD
CA6924438 rs762544187	127	M>V		No	ClinGen ExAC gnomAD
CA387683910 rs1367668719	132	L>S		No	ClinGen gnomAD
rs1428137283 CA387683926	133	Y>H		No	ClinGen gnomAD
rs1307148304 COSM1677565 CA387683959	134	Q>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	135	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1332032880 CA387684006	137	D>G		No	ClinGen gnomAD
CA6924443 rs750671549	141	Y>C		No	ClinGen ExAC gnomAD
CA387684042 rs1339818101	141	Y>H		No	ClinGen gnomAD
rs1227273208 CA387684061	144	A>T		No	ClinGen TOPMed gnomAD
CA387684112 rs1368749542	151	D>N		No	ClinGen TOPMed
TCGA novel	152	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	153	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387684904 rs1349134656	157	I>V		No	ClinGen gnomAD
CA247506537 rs267603792	161	G>V		No	ClinGen Ensembl
CA6924469 rs754118250	164	P>R		No	ClinGen ExAC TOPMed gnomAD
CA387684965 rs1318765332	166	R>*		No	ClinGen gnomAD
CA387684966 rs1219473554	166	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	171	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6924490 rs761055616	174	M>L		No	ClinGen ExAC gnomAD
CA247507335 rs181880846 COSM1366129	178	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA387685303 rs1360603716	186	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
VAR_041980	189	D>N	a lung neuroendocrine carcinoma sample; somatic mutation [UniProt]	No	UniProt
TCGA novel	194	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	196	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	196	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765207700 CA6924494 COSM1200578	200	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1451152770 CA387685466	201	A>T		No	ClinGen gnomAD
CA387685561 rs1336138421	208	A>P		No	ClinGen gnomAD
CA6924496 rs763051377	215	I>V		No	ClinGen ExAC TOPMed gnomAD
CA387684533 rs1266350254	217	I>F		No	ClinGen gnomAD
TCGA novel	218	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1193622051 CA387684543	218	W>L		No	ClinGen TOPMed
CA6924520 rs773127078	221	G>V		No	ClinGen ExAC gnomAD
CA247510562 rs112787342	226	E>K		No	ClinGen Ensembl
rs754765308 CA6924524	232	P>S		No	ClinGen ExAC gnomAD
TCGA novel	233	I>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387684658 rs17083996	235	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369889152 COSM1200579 CA6924526	237	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA247510583 rs756446183	253	D>E		No	ClinGen TOPMed
CA247510594 rs993713272	260	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	261	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6924555 rs374934398	265	K>E		No	ClinGen ESP ExAC gnomAD
rs1424308901 CA387685031	266	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	267	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1330493109 CA387685057	269	D>N		No	ClinGen TOPMed gnomAD
CA6924556 rs554686083	286	N>I		No	ClinGen 1000Genomes ExAC gnomAD
rs201577656 CA6924557	287	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1452733054 CA387685385	289	T>I		No	ClinGen gnomAD
rs754163374 CA6924571	294	I>T		No	ClinGen ExAC gnomAD
rs1251147844 CA387685454	295	K>Q		No	ClinGen gnomAD
rs1201021941 CA387685497	297	M>I		No	ClinGen gnomAD
TCGA novel	300	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA247512117 rs745387605	304	P>L		No	ClinGen Ensembl
CA247512111 rs973558970	304	P>T		No	ClinGen TOPMed
CA247512123 rs948223071	306	S>G		No	ClinGen Ensembl
CA6924572 rs755340500	307	K>E		No	ClinGen ExAC gnomAD
CA387685670 rs1327488241	310	H>Q		No	ClinGen TOPMed
rs1460879226 CA387685663	310	H>Y		No	ClinGen TOPMed gnomAD
rs749854415 CA6924586	318	M>V		No	ClinGen ExAC gnomAD
rs1452469268 CA387685766	321	I>V		No	ClinGen TOPMed gnomAD
rs933264029 CA247513294	323	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs766805750 CA6924588	325	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA247513307 rs202027259	328	Q>R		No	ClinGen Ensembl
CA6924591 rs765661340	333	P>L		No	ClinGen ExAC gnomAD
CA247513308 rs368431933	333	P>S		No	ClinGen ESP ExAC gnomAD
CA6924590 rs368431933	333	P>T		No	ClinGen ESP ExAC gnomAD
rs758599147 CA6924593	338	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	338	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1315130867 CA387685909	342	T>A		No	ClinGen gnomAD
rs538431005	344	D>=	Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs981705610 CA247513660	345	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	346	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA247513669 rs867370429	347	A>V		No	ClinGen Ensembl
rs750047100 CA6924609	348	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1480308705 CA387685977	350	Q>H		No	ClinGen gnomAD
TCGA novel	354	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA247513683 rs202007506	358	F>S		No	ClinGen 1000Genomes
CA387686084 rs1185691679	366	D>N		No	ClinGen TOPMed
CA387686151 rs1205082292	373	Q>*		No	ClinGen gnomAD
rs1343109895 CA387686161	374	Q>R		No	ClinGen TOPMed
CA6924628 rs763210377	382	T>A		No	ClinGen ExAC gnomAD
rs1243372184 CA387686255	387	H>L		No	ClinGen gnomAD
rs145770778 CA6924630	387	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs762174167 CA6924631	388	P>Q		No	ClinGen ExAC gnomAD
rs1430274600 CA387686280	391	Q>R		No	ClinGen TOPMed
CA6924633 rs750489290	393	S>G		No	ClinGen ExAC gnomAD
rs1186055081 CA387686304	394	S>N		No	ClinGen TOPMed
TCGA novel	395	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6924634 rs756268970	399	P>L		No	ClinGen ExAC gnomAD
CA6924635 rs529227329	400	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387686369 rs1268662950	404	V>L		No	ClinGen gnomAD
CA387686382 rs1279997474	406	V>L		No	ClinGen gnomAD
CA6924639 rs141416704	407	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1308650113 CA387686416	411	T>I		No	ClinGen TOPMed
TCGA novel	412	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756128891 CA247513746	412	T>I		No	ClinGen Ensembl
rs770525196 CA6924640	414	G>V		No	ClinGen ExAC
TCGA novel	415	G>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387686450 rs1443664164	417	I>T		No	ClinGen gnomAD
CA387686453 rs1241163459	418	M>V		No	ClinGen gnomAD
rs745321334 CA6924643	420	S>P		No	ClinGen ExAC gnomAD
CA387686490 rs1175776547	423	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
VAR_041981	424	R>C	a colorectal adenocarcinoma sample; somatic mutation [UniProt]	No	UniProt
rs1160704856 CA387686511	424	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1363438757 CA387686521	426	N>D		No	ClinGen gnomAD
CA6924659 rs751318330	426	N>S		No	ClinGen ExAC gnomAD
CA387686537 rs1324063036	428	H>R		No	ClinGen TOPMed gnomAD
rs1332821701 CA387686541	429	A>T		No	ClinGen gnomAD
CA6924660 rs757055221	429	A>V		No	ClinGen ExAC gnomAD
CA6924662 rs745583219	430	A>T		No	ClinGen ExAC TOPMed gnomAD
CA387686550 rs1241811741	430	A>V		No	ClinGen gnomAD
CA387686552 rs1289188098	431	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1357664738 CA387686570	433	N>K		No	ClinGen gnomAD
rs769152114 CA6924663	433	N>T		No	ClinGen ExAC
TCGA novel	434	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1458091072 CA387686578	435	G>R		No	ClinGen TOPMed
rs779663698 CA6924664	436	P>T		No	ClinGen ExAC gnomAD
rs77965388 CA247514865	439	S>P		No	ClinGen gnomAD
rs1232323179 CA387686621	441	P>L		No	ClinGen gnomAD
TCGA novel	442	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6924669 rs772624500	443	S>N		No	ClinGen ExAC gnomAD
CA6924670 rs373545283	445	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1423752121 CA387686674	449	A>P		No	ClinGen gnomAD
CA387686679 rs1593317657	450	T>P		No	ClinGen Ensembl
rs1593317666 CA387686686	451	S>P		No	ClinGen Ensembl
rs1163694705 CA387686706	453	Q>H		No	ClinGen TOPMed gnomAD
CA387686728 rs1190354569	457	Y>H		No	ClinGen TOPMed
rs1465189992 CA387686739	458	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA387686746 rs1450379647	459	H>L		No	ClinGen gnomAD
rs766349976 CA387686767	462	H>L		No	ClinGen ExAC TOPMed gnomAD
rs766349976 CA6924672	462	H>R		No	ClinGen ExAC TOPMed gnomAD
CA387686772 rs1448365337	463	R>L		No	ClinGen TOPMed gnomAD
CA387686771 rs1448365337	463	R>Q		No	ClinGen TOPMed gnomAD
rs776727772 CA6924673	463	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6924674 rs759567933	465	Y>G		No	ClinGen ExAC gnomAD

1 associated diseases with P49336

[MIM: 618748]: Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA)

An autosomal dominant neurodevelopmental disorder with onset in infancy. IDDHBA is characterized by hypotonia, global developmental delay, learning disability, and behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder. Additional variable features may include non-specific facial dysmorphism, congenital heart defects, ocular anomalies, and poor feeding. {ECO:0000269|PubMed:30905399}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant neurodevelopmental disorder with onset in infancy. IDDHBA is characterized by hypotonia, global developmental delay, learning disability, and behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder. Additional variable features may include non-specific facial dysmorphism, congenital heart defects, ocular anomalies, and poor feeding. {ECO:0000269|PubMed:30905399}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P49336

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	21 - 335	IPR000719
active_site	Serine/threonine-protein kinase, active site	147 - 159	IPR008271
binding_site	Protein kinase, ATP binding site	27 - 52	IPR017441

Functions

		Description
EC Number	2.7.11.22	Protein-serine/threonine kinases
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
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.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
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.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
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.
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 serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
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.

1 GO annotations of biological process

Name	Definition
protein phosphorylation	The process of introducing a phosphate group on to a protein.

19 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P39073	SSN3	Meiotic mRNA stability protein kinase SSN3	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q9VT57	Cdk8	Cyclin-dependent kinase 8	Drosophila melanogaster (Fruit fly)	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
Q9BWU1	CDK19	Cyclin-dependent kinase 19	Homo sapiens (Human)	PR
P50750	CDK9	Cyclin-dependent kinase 9	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
Q8BWD8	Cdk19	Cyclin-dependent kinase 19	Mus musculus (Mouse)	PR
Q8R3L8	Cdk8	Cyclin-dependent kinase 8	Mus musculus (Mouse)	PR
Q6P3N6	cdk8	Cyclin-dependent kinase 8	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q8JH47	cdk8	Cyclin-dependent kinase 8	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MDYDFKVKLS	SERERVEDLF	EYEGCKVGRG	TYGHVYKAKR	KDGKDDKDYA	LKQIEGTGIS
70	80	90	100	110	120
MSACREIALL	RELKHPNVIS	LQKVFLSHAD	RKVWLLFDYA	EHDLWHIIKF	HRASKANKKP
130	140	150	160	170	180
VQLPRGMVKS	LLYQILDGIH	YLHANWVLHR	DLKPANILVM	GEGPERGRVK	IADMGFARLF
190	200	210	220	230	240
NSPLKPLADL	DPVVVTFWYR	APELLLGARH	YTKAIDIWAI	GCIFAELLTS	EPIFHCRQED
250	260	270	280	290	300
IKTSNPYHHD	QLDRIFNVMG	FPADKDWEDI	KKMPEHSTLM	KDFRRNTYTN	CSLIKYMEKH
310	320	330	340	350	360
KVKPDSKAFH	LLQKLLTMDP	IKRITSEQAM	QDPYFLEDPL	PTSDVFAGCQ	IPYPKREFLT
370	380	390	400	410	420
EEEPDDKGDK	KNQQQQQGNN	HTNGTGHPGN	QDSSHTQGPP	LKKVRVVPPT	TTSGGLIMTS
430	440	450	460
DYQRSNPHAA	YPNPGPSTSQ	PQSSMGYSAT	SQQPPQYSHQ	THRY