AiPD: Autoinhibited Protein Database

Q5MAI5

Gene name	CDKL4
Protein name	Cyclin-dependent kinase-like 4
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:344387
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)

258-379 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

258-379 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

143-165 (Activation loop from InterPro)

Target domain	4-286 (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

1 structures for Q5MAI5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5MAI5-F1	Predicted				AlphaFoldDB

329 variants for Q5MAI5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1573023245 CA346617963	2	E>G		No	ClinGen Ensembl
CA346617969 rs1573023255	2	E>Q		No	ClinGen Ensembl
rs149237225 CA45687866	3	K>N		No	ClinGen ESP TOPMed
rs754791362 CA1625275	4	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA1625273 rs751476088	6	K>E		No	ClinGen ExAC gnomAD
CA1625272 rs766233490	8	A>T		No	ClinGen ExAC gnomAD
CA1625271 rs758417891	10	T>A		No	ClinGen ExAC gnomAD
CA346617839 rs1292511479	10	T>I		No	ClinGen TOPMed gnomAD
CA346617845 rs1292511479	10	T>N		No	ClinGen TOPMed gnomAD
CA45687846 rs866903206	11	G>R		No	ClinGen TOPMed
CA1625270 rs750463961	13	G>W		No	ClinGen ExAC gnomAD
CA1625268 rs147155601	14	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1625266 rs138111984	16	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1625264 rs776009745	18	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1347676630 CA346617668	21	C>G		No	ClinGen TOPMed
CA346617648 rs1369407036	22	R>K		No	ClinGen gnomAD
rs772446507 CA1625263	23	N>K		No	ClinGen ExAC gnomAD
CA346617623 rs1458976516	23	N>S		No	ClinGen gnomAD
rs1473137629 CA346617536	26	S>C		No	ClinGen gnomAD
CA346617505 rs1414576334	28	Q>*		No	ClinGen gnomAD
rs1326094738 CA346617469	29	V>A		No	ClinGen TOPMed
CA346617455 rs746455095	30	V>I		No	ClinGen ExAC gnomAD
CA1625262 rs746455095	30	V>L		No	ClinGen ExAC gnomAD
rs1483056256 CA346617420	32	V>I		No	ClinGen gnomAD
CA45687770 rs199615719	33	K>*		No	ClinGen Ensembl
rs997179174 CA45687764	34	K>*		No	ClinGen TOPMed gnomAD
CA346617346 rs1239814572	34	K>N		No	ClinGen TOPMed
rs1278195821	34	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs772678564 CA1625261	35	F>I		No	ClinGen ExAC TOPMed gnomAD
rs772678564 CA346617342	35	F>L		No	ClinGen ExAC TOPMed gnomAD
CA346617337 rs772678564	35	F>V		No	ClinGen ExAC TOPMed gnomAD
CA45687752 rs900160261	36	V>L		No	ClinGen Ensembl
VAR_041992 CA1625260 rs35947084	38	S>P		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA1625259 rs141333215	39	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	41	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346617164 rs1573022854	42	P>T		No	ClinGen Ensembl
CA45687708 rs1000593915	43	V>A		No	ClinGen TOPMed gnomAD
rs780857169 CA1625258	43	V>I		No	ClinGen ExAC gnomAD
rs1457498160 CA346617142	44	V>I		No	ClinGen TOPMed
rs754737936 CA1625257	45	K>E		No	ClinGen ExAC gnomAD
CA1625256 rs746764745	45	K>N		No	ClinGen ExAC gnomAD
TCGA novel	51	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143668771 CA45687689	51	E>K		No	ClinGen ESP
rs766021428 CA1625255	53	R>C		No	ClinGen ExAC TOPMed gnomAD
rs766021428 CA45687679	53	R>G		No	ClinGen ExAC TOPMed gnomAD
rs35454041 CA1625253 VAR_041993	53	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35454041 CA1625254	53	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757353052 CA1625231	57	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA346616065 rs1188110230	57	Q>H		No	ClinGen gnomAD
CA45684500 rs199555201	57	Q>R		No	ClinGen Ensembl
rs1343934175 CA346616045	59	K>N		No	ClinGen TOPMed
rs1446225519 CA346616052	59	K>Q		No	ClinGen TOPMed gnomAD
CA1625230 rs753956046	60	H>Y		No	ClinGen ExAC gnomAD
CA1625229 rs777977186	61	P>A		No	ClinGen ExAC gnomAD
rs756259785 CA346616011	65	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1625228 rs756259785	65	N>H		No	ClinGen ExAC TOPMed gnomAD
rs996685363 CA45684482	65	N>T		No	ClinGen TOPMed
CA1625226 rs767729102	68	E>D		No	ClinGen ExAC gnomAD
rs377382590 CA45684479	68	E>G		No	ClinGen ESP TOPMed
CA346615990 rs1228555843	68	E>K		No	ClinGen gnomAD
CA346615980 rs1294980649	70	F>L		No	ClinGen gnomAD
CA1625225 rs759928283	71	R>K		No	ClinGen ExAC gnomAD
TCGA novel	74	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1625223 rs145051446	74	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs776084989 CA1625221	75	K>E		No	ClinGen ExAC TOPMed gnomAD
CA1625220 rs768258427	76	M>R		No	ClinGen ExAC TOPMed gnomAD
rs760193087 CA1625219	79	V>F		No	ClinGen ExAC gnomAD
TCGA novel	80	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346615889 rs1573015814	82	Y>C		No	ClinGen Ensembl
CA1625217 rs771696927	83	C>G		No	ClinGen ExAC gnomAD
CA346615877 rs1189414153	84	D>G		No	ClinGen gnomAD
CA1625216 rs745670477	84	D>N		No	ClinGen ExAC gnomAD
CA1625215 rs778907747	85	H>D		No	ClinGen ExAC gnomAD
rs1256760848 CA346615860	86	T>I		No	ClinGen gnomAD
CA346615858 rs1170974218	87	L>V		No	ClinGen gnomAD
rs939884407 CA45684422	88	L>V		No	ClinGen TOPMed gnomAD
rs1213473956 CA346615845	89	N>Y		No	ClinGen gnomAD
rs777693618 CA1625212	90	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs372955336 CA1625210	92	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	93	R>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1309184333 CA346615798	96	N>D		No	ClinGen gnomAD
rs1386899525 CA346614593	100	D>G		No	ClinGen TOPMed
CA346614596 COSM3933644 rs1187522225	100	D>N	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1478076953 CA346614532	105	S>G		No	ClinGen gnomAD
rs140286102 CA1625196	105	S>R		No	ClinGen ESP ExAC gnomAD
CA1625195 rs770898977	106	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773237021 CA1625193	108	W>*		No	ClinGen ExAC TOPMed gnomAD
CA1625191 rs748276195	111	L>F		No	ClinGen ExAC gnomAD
CA1625189 rs540434458	113	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs553392290 CA1625190	113	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346614423 rs1369829689	114	L>P		No	ClinGen TOPMed gnomAD
CA45674154 rs933804897	115	N>S		No	ClinGen gnomAD
CA1625188 TCGA novel rs757144746	116	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA346614375 rs1440247369	117	C>W		No	ClinGen TOPMed gnomAD
CA45674130 rs975331146	117	C>Y		No	ClinGen Ensembl
CA1625186 rs758789550	118	H>R		No	ClinGen ExAC gnomAD
CA1625187 VAR_053930 rs6731369	118	H>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1343156299 CA346614346	119	I>T		No	ClinGen gnomAD
CA1625184 rs369492135	120	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs369492135 CA1625185	120	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs375514414	121	N>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA45674118 rs925648540	121	N>H		No	ClinGen TOPMed
CA45666524 rs147409294	125	R>G		No	ClinGen ESP
CA1625155 rs748442391	130	E>V		No	ClinGen ExAC gnomAD
TCGA novel	131	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776576989 CA1625153	132	I>S		No	ClinGen ExAC gnomAD
rs760757687 CA1625151	134	I>M		No	ClinGen ExAC
CA1625150 rs776519736	136	K>E		No	ClinGen ExAC TOPMed gnomAD
rs772332903 CA1625149	137	Q>*		No	ClinGen ExAC gnomAD
rs1338009787 CA346612695	138	G>*		No	ClinGen TOPMed
TCGA novel	138	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346612672 rs1425949242	139	I>M		No	ClinGen gnomAD
rs1164987380 CA346612681	139	I>T		No	ClinGen TOPMed gnomAD
rs1372188275 CA346612686	139	I>V		No	ClinGen gnomAD
rs1029084763 CA45666482	140	I>M		No	ClinGen TOPMed
CA1625148 rs746115252	140	I>N		No	ClinGen ExAC gnomAD
CA1625147 rs150579239	141	K>N		No	ClinGen ESP ExAC
CA346612640 rs1187674026	142	I>F		No	ClinGen gnomAD
TCGA novel	142	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271965526 CA346612627	143	C>S		No	ClinGen TOPMed
CA1625146 rs771224600	144	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA45666475 rs11892364 CA1625145	145	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1625143 rs754483784	146	G>R		No	ClinGen ExAC gnomAD
rs368132805 CA1625142	151	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs371665589 CA45666457	151	L>V		No	ClinGen ESP TOPMed gnomAD
rs753625940 CA1625116	152	I>M		No	ClinGen ExAC gnomAD
rs1326934771 CA346611067	153	P>L		No	ClinGen TOPMed
rs1387984025 CA346611062	154	G>A		No	ClinGen gnomAD
CA1625115 rs763914040	155	D>A		No	ClinGen ExAC gnomAD
CA346611039 rs1324754133	157	Y>H		No	ClinGen gnomAD
CA346611005 rs1572956518	159	D>G		No	ClinGen Ensembl
rs147480081 CA346611011	159	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147480081 CA1625111	159	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs766501419 CA1625109	160	Y>C		No	ClinGen ExAC gnomAD
rs766501419 CA346610983	160	Y>F		No	ClinGen ExAC gnomAD
rs763338069 CA1625108	161	V>I		No	ClinGen ExAC gnomAD
rs201345173 CA1625107	163	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA45655280 rs904636655	165	W>*		No	ClinGen gnomAD
rs904636655 CA346610918	165	W>L		No	ClinGen gnomAD
CA346610922 rs1558551640	165	W>R		No	ClinGen Ensembl
rs777007004 CA1625104	166	Y>D		No	ClinGen ExAC gnomAD
rs777007004 CA346610909	166	Y>N		No	ClinGen ExAC gnomAD
COSM3426439 rs771548328 CA1625103	167	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1625102 rs143776608	167	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA346610882 rs1256482801	168	A>P		No	ClinGen TOPMed gnomAD
CA346610829 rs1234819022	171	L>F		No	ClinGen gnomAD
CA1625101 rs778551450	171	L>P		No	ClinGen ExAC gnomAD
rs1435278111 CA346610814	172	L>P		No	ClinGen gnomAD
rs1366915695 CA346610806	173	V>E		No	ClinGen gnomAD
TCGA novel	174	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748987869 CA1625099	175	D>G		No	ClinGen ExAC gnomAD
rs1558551563 CA346610759	176	T>N		No	ClinGen Ensembl
rs766353994 CA1625098	177	Q>H		No	ClinGen ExAC TOPMed
CA45655244 rs1011188711	177	Q>K		No	ClinGen TOPMed gnomAD
rs892262044 CA45655241	178	Y>C		No	ClinGen Ensembl
rs202016652 CA1625096	179	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752564124 CA1625095	180	S>F		No	ClinGen ExAC gnomAD
CA45655207 rs927635242	183	D>G		No	ClinGen Ensembl
CA346610674 rs139561238	183	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs139561238 CA1625094	183	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1044777289 CA45655182	184	I>L		No	ClinGen Ensembl
CA45655166 rs142173560	184	I>M		No	ClinGen ESP TOPMed gnomAD
rs755004592 CA1625093	184	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1371530301 CA346610649	185	W>*		No	ClinGen gnomAD
rs544730101 CA1625092	185	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA45655140 rs761393671	186	A>S		No	ClinGen ExAC TOPMed gnomAD
rs761393671 CA1625091	186	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1256800640 CA346610639	187	I>T		No	ClinGen gnomAD
CA45655134 rs993691057	187	I>V		No	ClinGen TOPMed gnomAD
rs148659647 CA45655127	188	G>R		No	ClinGen ESP TOPMed
CA346610620 rs1484405791	190	V>A		No	ClinGen gnomAD
CA1625090 rs763247722	190	V>I		No	ClinGen ExAC TOPMed gnomAD
rs765627508 CA1625088	194	L>P		No	ClinGen ExAC TOPMed
rs765627508 CA346610592	194	L>R		No	ClinGen ExAC TOPMed
CA1625087 rs762278089	195	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1364808502 CA346610582	196	T>I		No	ClinGen TOPMed
rs769037833 CA1625085	197	G>A		No	ClinGen ExAC gnomAD
CA45655069 rs898013169	198	Q>*		No	ClinGen TOPMed
rs143032759 CA45655066	199	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs1413404873 CA346610555	201	W>*		No	ClinGen gnomAD
rs761283935 CA1625084	204	K>E		No	ClinGen ExAC gnomAD
CA1625083 rs773709357	205	S>*		No	ClinGen ExAC gnomAD
CA346610518 rs1431672791	207	V>M		No	ClinGen gnomAD
CA1625082 rs770449380	208	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA1625081 rs748900344	210	L>F		No	ClinGen ExAC gnomAD
CA346610497 rs748900344	210	L>I		No	ClinGen ExAC gnomAD
rs748900344 CA346610496	210	L>V		No	ClinGen ExAC gnomAD
rs777409722 CA1625080	211	Y>C		No	ClinGen ExAC gnomAD
rs1474220182 CA346610458	213	I>M		No	ClinGen gnomAD
CA346610464 rs1189790341	213	I>T		No	ClinGen gnomAD
CA45655033 rs983885196	213	I>V		No	ClinGen gnomAD
rs1256694868 CA346610456	214	I>L		No	ClinGen gnomAD
CA346610440 rs1205308097	215	R>G		No	ClinGen gnomAD
CA346610422 rs1439006185	216	T>A		No	ClinGen gnomAD
rs1270475702 CA346610408	216	T>I		No	ClinGen gnomAD
CA346609462 rs1324093641	218	G>E		No	ClinGen TOPMed gnomAD
rs199577858 CA45652514	222	P>S		No	ClinGen 1000Genomes
rs769435275 CA1625062	223	R>G		No	ClinGen ExAC TOPMed gnomAD
CA346609424 rs1269554951	224	H>R		No	ClinGen gnomAD
rs954715312 CA45652491	224	H>Y		No	ClinGen Ensembl
rs1402445877 CA346609405	227	I>V		No	ClinGen gnomAD
rs56353587 CA1625059 VAR_041994	228	F>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs780831657 CA1625060	228	F>I		No	ClinGen ExAC gnomAD
CA45652449 rs376453354	229	K>I		No	ClinGen Ensembl
CA45652458 rs958170968	229	K>Q		No	ClinGen Ensembl
CA346609387 rs1272590237	230	S>G		No	ClinGen TOPMed
CA45652444 rs541731684	232	G>R	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
rs532880020 CA1625053	235	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs779173224 CA1625052	238	S>T		No	ClinGen ExAC gnomAD
rs1288551074 CA346609301	241	E>D		No	ClinGen TOPMed
TCGA novel	242	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1625051 rs757396712	243	E>Q		No	ClinGen ExAC gnomAD
rs948855202 CA45652395	244	D>G		No	ClinGen TOPMed
CA45652369 rs1020221384	245	M>I		No	ClinGen gnomAD
rs1558549176 CA346609278	245	M>K		No	ClinGen Ensembl
rs754112790 CA1625050	245	M>V		No	ClinGen ExAC TOPMed gnomAD
CA346609118 rs1459378531	246	E>D		No	ClinGen gnomAD
rs1233643993 CA346609112	247	T>I		No	ClinGen gnomAD
CA1625035 rs140565939	249	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA346609105 rs1398128285	249	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs112831085 CA45649657	251	K>E		No	ClinGen Ensembl
CA346609080 rs1244395030	251	K>N		No	ClinGen TOPMed
CA1625034 rs779085374	251	K>R		No	ClinGen ExAC TOPMed gnomAD
rs976699969 CA45649644	254	D>H		No	ClinGen TOPMed gnomAD
CA346609036 rs976699969	254	D>N		No	ClinGen TOPMed gnomAD
CA346609020 rs1187869164	255	V>I		No	ClinGen gnomAD
rs535538141 CA45649636	258	V>L		No	ClinGen 1000Genomes
rs1310593019 CA346608964	259	A>G		No	ClinGen gnomAD
CA346608967 rs1377179165	259	A>S		No	ClinGen gnomAD
CA346608939 rs1447384484	261	N>I		No	ClinGen TOPMed gnomAD
rs1481703994 CA346608909	263	M>V		No	ClinGen TOPMed
CA1625032 rs199611997	264	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA1625011 rs199802809	265	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA46029696 rs113764126	266	C>R		No	ClinGen Ensembl
rs927980036 CA46029695	271	P>T		No	ClinGen Ensembl
CA346775228 rs1266244878	272	D>E		No	ClinGen TOPMed
CA346775222 rs1232538598	273	D>G		No	ClinGen gnomAD
rs1317442152 CA346775215	274	R>T		No	ClinGen gnomAD
CA346775208 rs1482643294	275	L>S		No	ClinGen TOPMed
CA346775201 rs1308591975	276	T>N		No	ClinGen gnomAD
CA346775198 rs1298869525	277	C>R		No	ClinGen TOPMed gnomAD
CA346775197 rs1298869525	277	C>S		No	ClinGen TOPMed gnomAD
rs1472889579 CA346775185	278	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA1625008 rs752001236	279	Q>L		No	ClinGen ExAC gnomAD
rs200334617 CA1625006	283	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs200334617 CA1625005	283	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA346775135 rs1454812136	286	F>S		No	ClinGen gnomAD
CA1625003 rs760354079	287	D>V		No	ClinGen ExAC gnomAD
CA346775119 rs34819676	288	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_041995 CA1625002 rs34819676	288	S>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1329638557 CA346775115	289	F>Y		No	ClinGen gnomAD
CA346775108 rs1253894115	290	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1195673641 CA346775107	290	Q>R		No	ClinGen gnomAD
rs767353955 CA1625001	292	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA346775087 rs1355571761	293	Q>*		No	ClinGen Ensembl
rs759417509 CA1625000	295	K>T		No	ClinGen ExAC gnomAD
CA346775067 rs1372113633	296	R>G		No	ClinGen TOPMed
rs368708341 CA1624999	298	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201931652 CA1624997	299	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1624995 rs370476409	299	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1624996 rs370476409	299	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA46029693 rs201931652	299	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1624993 rs781400389	300	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1624994 rs781400389	300	N>H		No	ClinGen ExAC TOPMed gnomAD
CA1624992 rs568631382	300	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs747364809 CA1624991	301	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	302	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1377140020 CA346775024	303	R>K		No	ClinGen TOPMed
CA346775000 rs1313749771	306	R>S		No	ClinGen TOPMed
CA1624989 rs56330730 VAR_041996	307	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1624988 rs373197083	307	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs780414961 CA346774918	311	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1624969 rs780414961	311	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759488285 CA46029651	312	P>A		No	ClinGen TOPMed gnomAD
CA346774909 rs1477480914	313	K>Q		No	ClinGen gnomAD
rs1189482629 CA346774885	316	F>S		No	ClinGen gnomAD
rs1277490763 CA346774878	317	P>R		No	ClinGen gnomAD
CA46029650 rs927838977	317	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	318	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335216134 CA346774840	323	T>A		No	ClinGen gnomAD
rs772352875 CA1624967	324	K>E		No	ClinGen ExAC gnomAD
CA46029648 rs374791020	325	I>F		No	ClinGen TOPMed gnomAD
CA46029649 rs374791020	325	I>L		No	ClinGen TOPMed gnomAD
CA46029646 rs774606291	326	C>G		No	ClinGen Ensembl
CA346774814 rs1558541656	327	Q>*		No	ClinGen Ensembl
TCGA novel rs963381737 CA346774810	327	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
rs1411918775 CA346774804	328	V>G		No	ClinGen gnomAD
rs779299787 CA1624965	328	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752251622 CA1624963	329	Q>*		No	ClinGen ExAC gnomAD
CA1624962 rs754655804	329	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA1624961 rs754655804	329	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1189904473 CA346774782	332	E>K		No	ClinGen gnomAD
rs766160209 CA346774771	333	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1473943534 CA346774775	333	T>P		No	ClinGen gnomAD
CA1624959 rs766160209	333	T>S		No	ClinGen ExAC TOPMed gnomAD
rs554364520 CA1624957	334	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1247947866 CA346774761	335	T>A		No	ClinGen gnomAD
rs1239230840 CA346774751	337	G>R		No	ClinGen TOPMed
rs761775804 CA1624955	338	N>K		No	ClinGen ExAC gnomAD
CA1624954 rs772674569	339	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA346774738 rs1445500358	339	Q>K		No	ClinGen TOPMed
CA46029644 rs372639190	339	Q>P		No	ClinGen ESP
CA46029643 rs948074045	342	P>R		No	ClinGen Ensembl
rs760910492 CA1624951	343	N>S		No	ClinGen ExAC gnomAD
CA1624952 rs535696745	343	N>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1328379990 CA346774696	346	I>V		No	ClinGen gnomAD
CA1624946 rs771534436	351	M>V		No	ClinGen ExAC gnomAD
rs749861677 CA1624945	353	T>S		No	ClinGen ExAC gnomAD
CA46029641 rs1043048176	354	V>I		No	ClinGen TOPMed gnomAD
rs754569638 CA1624943	355	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780802480 CA1624944	355	M>V		No	ClinGen ExAC TOPMed gnomAD
CA346774626 rs1558541520	356	T>A		No	ClinGen Ensembl
rs1177561566 CA346774617	357	N>T		No	ClinGen gnomAD
TCGA novel	362	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866965311 CA46029640	364	Q>*		No	ClinGen Ensembl
rs746608499 CA1624942	364	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA346774565 rs1212182788	365	V>L		No	ClinGen gnomAD
CA346774556 rs1483754348	366	T>I		No	ClinGen gnomAD
rs1451573645 CA346774549	368	L>V		No	ClinGen gnomAD
CA346774539 rs1252453389	369	H>L		No	ClinGen TOPMed
rs779590187 CA1624941	369	H>N		No	ClinGen ExAC TOPMed gnomAD
rs758131507 CA1624940	370	L>F		No	ClinGen ExAC gnomAD
rs1225559433 CA346774536	370	L>V		No	ClinGen TOPMed gnomAD
rs1199201720 CA346774509	374	N>D		No	ClinGen TOPMed
CA346774495 rs1461778739	375	F>L		No	ClinGen TOPMed
CA46029639 rs965872928	376	E>*		No	ClinGen Ensembl
rs750149238 CA1624939	377	V>I		No	ClinGen ExAC gnomAD
rs760840344 CA1624938	379	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA346774468 rs1433990279	380	S>Q		No	ClinGen gnomAD

No associated diseases with Q5MAI5

2 regional properties for Q5MAI5

Type	Name	Position	InterPro Accession
domain	Protein OS9-like domain	151 - 245	IPR012913
domain	MRH domain	151 - 291	IPR044865

Functions

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

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.

3 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 serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.

1 GO annotations of biological process

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

21 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
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
P50750	CDK9	Cyclin-dependent kinase 9	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
Q8BLF2	Cdkl3	Cyclin-dependent kinase-like 3	Mus musculus (Mouse)	PR
Q8CEQ0	Cdkl1	Cyclin-dependent kinase-like 1	Mus musculus (Mouse)	PR
Q9QUK0	Cdkl2	Cyclin-dependent kinase-like 2	Mus musculus (Mouse)	PR
Q3TZA2	Cdkl4	Cyclin-dependent kinase-like 4	Mus musculus (Mouse)	PR
Q5XIT0	Cdkl2	Cyclin-dependent kinase-like 2	Rattus norvegicus (Rat)	PR
Q9JM01	Cdkl3	Cyclin-dependent kinase-like 3	Rattus norvegicus (Rat)	PR
Q66HE7	Cdkl1	Cyclin-dependent kinase-like 1	Rattus norvegicus (Rat)	PR
Q6AXJ9	cdkl1	Cyclin-dependent kinase-like 1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MEKYEKLAKT	GEGSYGVVFK	CRNKTSGQVV	AVKKFVESED	DPVVKKIALR	EIRMLKQLKH
70	80	90	100	110	120
PNLVNLIEVF	RRKRKMHLVF	EYCDHTLLNE	LERNPNGVAD	GVIKSVLWQT	LQALNFCHIH
130	140	150	160	170	180
NCIHRDIKPE	NILITKQGII	KICDFGFAQI	LIPGDAYTDY	VATRWYRAPE	LLVGDTQYGS
190	200	210	220	230	240
SVDIWAIGCV	FAELLTGQPL	WPGKSDVDQL	YLIIRTLGKL	IPRHQSIFKS	NGFFHGISIP
250	260	270	280	290	300
EPEDMETLEE	KFSDVHPVAL	NFMKGCLKMN	PDDRLTCSQL	LESSYFDSFQ	EAQIKRKARN
310	320	330	340	350	360
EGRNRRRQQQ	APKSAFPRLF	LKTKICQVQR	NETQTSGNQI	LPNGPILQNS	MVTVMTNINS
370
AVYQVTVLHL	LSENFEVKS