AiPD: Autoinhibited Protein Database

Q8N5S9

Gene name	CAMKK1 (CAMKKA)
Protein name	Calcium/calmodulin-dependent protein kinase kinase 1
Names	CaM-KK 1, CaM-kinase kinase 1, CaMKK 1, CaM-kinase IV kinase, Calcium/calmodulin-dependent protein kinase kinase alpha, CaM-KK alpha, CaM-kinase kinase alpha, CaMKK alpha
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84254
EC number
Protein Class

Descriptions

Ca2+/calmodulin-dependent protein kinase kinases (CaMKKs) are a serine/threonine-directed kinase that is activated following increases in intracellular Ca2+ and is involved in a number of physiological pathways, including learning and memory formation, neuronal differentiation, and regulation of energy balance. In human CAMK1, the autoinhibitory region contains two helical structures (αR1 and αR2) and includes a pseudosubstrate sequence within it. The αR2 helix is at the N-terminal of CaM-binding domain. The αR1 interacts with the catalytic core and αR2 interacts with the ATP-binding region of CAMK1 for autoinhibition.

Autoinhibitory domains (AIDs)

435-440 (Autoinhibitory domain) SS

Target domain	128-409 (Protein kinase domain)
Relief mechanism	Ligand binding
Assay

AID

435-440 (Autoinhibitory domain)

Target domain

128-409 (Protein kinase domain)

Relief mechanism

Ligand binding (Ca2+-CaM binding to CaM binding domain)

Assay

Accessory elements

292-315 (Activation loop from InterPro)

Target domain	128-409 (Protein kinase domain)
Relief mechanism
Assay

References

Yuan T et al. (2004) "Spectroscopic characterization of the calmodulin-binding and autoinhibitory domains of calcium/calmodulin-dependent protein kinase I", Archives of biochemistry and biophysics, 421, 192-206

Amezcua CA et al. (2002) "Structure and interactions of PAS kinase N-terminal PAS domain: model for intramolecular kinase regulation", Structure (London, England : 1993), 10, 1349-61

Rutter J et al. (2001) "PAS kinase: an evolutionarily conserved PAS domain-regulated serine/threonine kinase", Proceedings of the National Academy of Sciences of the United States of America, 98, 8991-6

Autoinhibited structure

Activated structure

3 structures for Q8N5S9

Entry ID	Method	Resolution	Chain	Position	Source
6CCF	X-ray	210 A	A/B	124-411	PDB
6CD6	X-ray	220 A	A/B/C/D	124-411	PDB
AF-Q8N5S9-F1	Predicted				AlphaFoldDB

393 variants for Q8N5S9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA287053329 rs772689133	2	E>G		No	ClinGen gnomAD
CA397207335 rs773756977	3	G>R		No	ClinGen ExAC gnomAD
CA8295897 rs773756977	3	G>W		No	ClinGen ExAC gnomAD
CA397207321 rs746626071	4	G>A		No	ClinGen ExAC TOPMed gnomAD
rs746626071 CA8295893	4	G>D		No	ClinGen ExAC TOPMed gnomAD
CA8295895 rs571797127	4	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8295894 rs571797127	4	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746626071 CA8295892	4	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1437070135 CA397207319	5	P>T		No	ClinGen TOPMed gnomAD
rs766442798 CA8295891	6	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8295889 rs745804356	11	D>G		No	ClinGen ExAC TOPMed gnomAD
CA8295888 rs778845990	12	P>L		No	ClinGen ExAC gnomAD
rs368347160 CA8295886	13	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8295887 rs757077311	13	R>W		No	ClinGen ExAC gnomAD
CA8295885 rs777525411	14	A>E		No	ClinGen ExAC gnomAD
CA8295884 rs755234084	15	E>Q		No	ClinGen ExAC gnomAD
CA397207120 rs1374179329	19	R>Q		No	ClinGen gnomAD
CA8295882 rs773391060	19	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8295881 rs763033251	20	V>M		No	ClinGen ExAC TOPMed gnomAD
rs750924037 CA8295880	22	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1253533984 CA397207019	24	D>N		No	ClinGen gnomAD
rs1272285938 CA397206968	26	T>S		No	ClinGen Ensembl
CA287053326 rs367612794	27	H>L		No	ClinGen ESP
rs1427272075 CA397206861	31	A>T		No	ClinGen TOPMed
rs775148473 CA8295874	32	D>G		No	ClinGen ExAC gnomAD
rs1484625107 CA397206783	34	G>S		No	ClinGen gnomAD
rs1327994186 CA397206616	39	R>T		No	ClinGen TOPMed
rs778848768 CA8295871	41	G>S		No	ClinGen ExAC TOPMed gnomAD
CA397206517 rs1310090786	41	G>V		No	ClinGen TOPMed
rs1597487568 CA397206458	43	D>A		No	ClinGen Ensembl
CA287053322 rs143838057	43	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA287053321 rs548960205	44	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8295868 rs777611464	44	P>R		No	ClinGen ExAC gnomAD
rs548960205 CA8295869	44	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA287053320 rs751745026	45	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8295866 rs751745026	45	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1417046700 CA397206325	45	P>S		No	ClinGen TOPMed gnomAD
rs1400052185 CA397206302	46	P>A		No	ClinGen gnomAD
CA8295865 rs780282099	46	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8295863 rs750564713	47	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8295864 COSM1679388 COSM1679387 rs113610926	47	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8295862 rs184475457	48	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA397206164 rs1450685133	51	A>T		No	ClinGen TOPMed
rs754379656 CA8295860	51	A>V		No	ClinGen ExAC gnomAD
CA397206135 rs1194384481	52	S>F		No	ClinGen gnomAD
rs761030354 CA287053319	53	V>L		No	ClinGen ExAC TOPMed gnomAD
rs761030354 CA8295858	53	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1567635554 CA397206108	54	I>V		No	ClinGen Ensembl
rs866002739 CA287053318	56	G>D		No	ClinGen Ensembl
rs149002011 CA8295857	57	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs149002011 CA8295856	57	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA397205969 rs1446600000	59	S>L		No	ClinGen gnomAD
rs1390641268 CA397205968	60	R>G		No	ClinGen TOPMed
CA397205957 rs1330983687	60	R>T		No	ClinGen Ensembl
rs955192281 CA287053317	63	P>S		No	ClinGen Ensembl
rs1235502448 CA397205811	64	A>V		No	ClinGen gnomAD
rs770424932 CA397205778	65	R>P		No	ClinGen ExAC gnomAD
rs770424932 CA8295853	65	R>Q		No	ClinGen ExAC gnomAD
rs773894430 CA8295854	65	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8295852 rs749281514	66	P>A		No	ClinGen ExAC gnomAD
CA397205723 rs1597487237	66	P>L		No	ClinGen Ensembl
CA397205747 rs749281514	66	P>S		No	ClinGen ExAC gnomAD
CA8295851 rs773078086	68	L>V		No	ClinGen ExAC gnomAD
CA8295848 rs780825500	77	E>K		No	ClinGen ExAC gnomAD
rs899882051 CA287053316	78	R>Q		No	ClinGen TOPMed gnomAD
rs138396037 CA8295847	78	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8295846 rs746083441	79	P>A		No	ClinGen ExAC gnomAD
CA397205455 rs1324391860	79	P>L		No	ClinGen TOPMed
CA397205396 rs1567635371	81	G>E		No	ClinGen Ensembl
rs1005516338 CA287053315	81	G>R		No	ClinGen gnomAD
rs757344850 CA8295844	82	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1475154514 CA397205385	82	S>N		No	ClinGen gnomAD
CA397205388 rs757344850	82	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1247479137 CA397205347	83	Y>C		No	ClinGen gnomAD
rs764659032 CA8295842	85	E>G		No	ClinGen ExAC gnomAD
CA8295841 rs369445452	86	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs767745481 CA8295839	88	A>T		No	ClinGen ExAC TOPMed gnomAD
CA397205172 rs1355272323	89	G>A		No	ClinGen TOPMed
CA8295838 rs543479862	90	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA8295836 rs765889067	93	T>M		No	ClinGen ExAC gnomAD
rs1597486999 CA397205049	93	T>P		No	ClinGen Ensembl
CA397205009 rs1268972850	94	G>E		No	ClinGen TOPMed
rs769816989 CA8295833	95	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8295832 rs748003574	96	A>S		No	ClinGen ExAC gnomAD
rs1169705363 CA397204394	99	I>F		No	ClinGen gnomAD
rs768319996 CA8295831	99	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1195597338 CA397204285 COSM357842	100	S>F	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA397204306 rs1395835406	100	S>P		No	ClinGen gnomAD
CA397204300 rs1395835406	100	S>T		No	ClinGen gnomAD
rs746097746 CA397204229	101	P>H		No	ClinGen ExAC TOPMed gnomAD
CA8295829 rs746097746	101	P>L		No	ClinGen ExAC TOPMed gnomAD
CA397204242 rs1252646813	101	P>S		No	ClinGen TOPMed gnomAD
rs779208023 CA287053313	102	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8295827 rs202123035	102	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8295828 rs779208023	102	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8295826 rs749335060	103	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1204505099 CA397204082	104	W>*		No	ClinGen gnomAD
rs763909403 COSM3937369 CA8295824 COSM3937368	105	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777695527 CA8295825	105	R>W		No	ClinGen ExAC TOPMed gnomAD
CA397203990 rs1309597723	107	P>H		No	ClinGen gnomAD
CA397203985 rs1309597723	107	P>L		No	ClinGen gnomAD
CA287053312 rs995120879	108	T>P		No	ClinGen TOPMed
CA397203933 rs1392888108	109	I>M		No	ClinGen gnomAD
CA287053311 rs899292758	110	E>K		No	ClinGen TOPMed
rs140915354 CA8295822	112	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs377057845 CA8295820	113	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1266857315 CA397203762	114	V>M		No	ClinGen TOPMed
rs1377204087 CA397203619	118	D>Y		No	ClinGen gnomAD
CA397203608 rs1175557832	119	A>E		No	ClinGen gnomAD
CA8295818 rs762569562	120	E>D		No	ClinGen ExAC gnomAD
rs765977017 CA8295819	120	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA397203202 rs1341057329	121	D>E		No	ClinGen gnomAD
rs1039463202 CA287053208	122	C>S		No	ClinGen gnomAD
rs1039463202 CA397203189	122	C>Y		No	ClinGen gnomAD
CA8295786 rs201085151	123	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA287053207 rs146440202	124	Q>R		No	ClinGen ESP TOPMed
CA8295785 rs780454284	125	L>Q		No	ClinGen ExAC gnomAD
CA8295784 rs758703810	132	S>I		No	ClinGen ExAC gnomAD
CA397202643 rs1597484731	134	I>T		No	ClinGen Ensembl
rs754825857 CA8295757	139	Y>C		No	ClinGen ExAC gnomAD
rs1244219809 CA397202251	140	G>S		No	ClinGen TOPMed
CA397202146 rs1390099963	144	L>V		No	ClinGen gnomAD
CA397202056 rs776775275	147	N>K		No	ClinGen ExAC gnomAD
CA287053160 rs776775275	147	N>K		No	ClinGen ExAC gnomAD
CA8295754 rs140341686	147	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8295752 rs764163704	148	E>K		No	ClinGen ExAC TOPMed gnomAD
rs373201175 CA287053159	151	D>N		No	ClinGen ESP gnomAD
rs760702571 CA8295751	153	H>Y		No	ClinGen ExAC gnomAD
CA287053126 rs772920078	157	K>R		No	ClinGen Ensembl
CA397201630 rs1597482729	158	V>L		No	ClinGen Ensembl
CA397201515 rs1309336393	163	K>Q		No	ClinGen Ensembl
CA287053125 rs1027067554	165	L>V		No	ClinGen TOPMed gnomAD
CA397201417 rs1346576423	167	Q>L		No	ClinGen gnomAD
CA397201372 rs1369557569	170	F>S		No	ClinGen gnomAD
CA397201384 rs1387054504	170	F>V		No	ClinGen gnomAD
CA8295722 rs768153926	171	P>L		No	ClinGen ExAC gnomAD
CA8295720 rs780001304	172	R>C		No	ClinGen ExAC gnomAD
rs367817211 CA8295704	173	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8295703 rs746479390	176	P>L		No	ClinGen ExAC TOPMed gnomAD
CA397200214 rs745799806	178	G>E		No	ClinGen ExAC gnomAD
rs1348275365 CA397200218	178	G>R		No	ClinGen TOPMed
rs745799806 CA8295700	178	G>V		No	ClinGen ExAC gnomAD
rs1211872704 CA397200169	180	Q>R		No	ClinGen TOPMed
CA8295699 rs778740422	181	A>P		No	ClinGen ExAC TOPMed gnomAD
rs778740422 CA287053096	181	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8295698 rs756989478	182	A>T		No	ClinGen ExAC gnomAD
rs961014801 CA287053095	183	Q>P		No	ClinGen gnomAD
rs1205905464 CA397200091	184	G>R		No	ClinGen gnomAD
rs200623715 CA8295697	185	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs575411196 CA287053094	186	P>L		No	ClinGen TOPMed
CA397200054 rs575411196	186	P>Q		No	ClinGen TOPMed
CA287053093 rs142234835	187	A>P		No	ClinGen ESP TOPMed gnomAD
CA8295695 rs755040133	192	P>L		No	ClinGen ExAC gnomAD
CA397199872 rs1438434326	193	L>P		No	ClinGen gnomAD
rs1047092655 CA287053092	194	E>G		No	ClinGen TOPMed gnomAD
rs377173533 CA8295693	195	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8295694 COSM3819451 rs751713715 COSM3819450	195	R>W	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA397199791 rs1597481903	196	V>G		No	ClinGen Ensembl
rs1352721003 CA397199807	196	V>M		No	ClinGen gnomAD
rs1429246860 CA397199783	197	Y>H		No	ClinGen gnomAD
CA397199668 rs1175838683	200	I>M		No	ClinGen gnomAD
COSM1383272 rs919206286 CA287053091 COSM1383273	200	I>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA397199614 rs1175184162	202	I>M		No	ClinGen TOPMed
CA397199618 rs1267046230	202	I>T		No	ClinGen gnomAD
rs1352392647 CA397199429	207	D>Y		No	ClinGen TOPMed
rs765698609 CA8295690	208	H>Y		No	ClinGen ExAC gnomAD
CA397199349 rs1203769570	209	V>M		No	ClinGen TOPMed gnomAD
rs969957130 CA287053089	215	I>V		No	ClinGen Ensembl
rs1438660944 CA397199017	216	E>K		No	ClinGen TOPMed
CA397198714 rs1233749267	217	V>L		No	ClinGen gnomAD
CA397198650 rs1357299935	218	L>P		No	ClinGen gnomAD
CA397198532 rs1295164979	221	P>R		No	ClinGen gnomAD
rs1395915615 CA397198567	221	P>S		No	ClinGen TOPMed
rs2159439 CA287053031	222	A>D		No	ClinGen Ensembl
rs144687124 CA397198529	222	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8295671 rs144687124	222	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8295672 rs144687124	222	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764361353 CA8295669	225	N>S		No	ClinGen ExAC gnomAD
rs1290607382 CA397196428	229	V>A		No	ClinGen gnomAD
CA287052959 rs1010826031	231	D>G		No	ClinGen TOPMed
CA8295606 rs746692613	231	D>N		No	ClinGen ExAC gnomAD
CA397196289 rs1350438409	232	L>I		No	ClinGen gnomAD
rs1250178452 CA397195088	237	P>T		No	ClinGen gnomAD
rs778299550 CA8295585	238	V>A		No	ClinGen ExAC TOPMed gnomAD
rs778299550 CA397195026	238	V>G		No	ClinGen ExAC TOPMed gnomAD
rs745519128 CA8295586	238	V>I		No	ClinGen ExAC TOPMed gnomAD
rs753857143 CA8295584	239	M>L		No	ClinGen ExAC TOPMed gnomAD
rs753857143 CA8295583	239	M>L		No	ClinGen ExAC TOPMed gnomAD
rs201476330 CA287052809	240	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201476330 CA8295582	240	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1567628794 CA397194939	241	V>A		No	ClinGen Ensembl
CA397194929 rs1288463075	242	P>S		No	ClinGen gnomAD
rs756101063 CA8295581	243	C>R		No	ClinGen ExAC gnomAD
rs756101063 CA397194922	243	C>S		No	ClinGen ExAC gnomAD
CA8295580 rs752475218	243	C>W		No	ClinGen ExAC gnomAD
rs1257216584 CA397194882	244	D>E		No	ClinGen TOPMed
rs1295005715 CA397194868	245	K>R		No	ClinGen gnomAD
rs767340323 CA8295579	246	P>S		No	ClinGen ExAC gnomAD
CA8295577 rs750605303	248	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8295578 rs763146758	248	S>P		No	ClinGen ExAC gnomAD
rs761829053 CA8295575	249	E>K		No	ClinGen ExAC gnomAD
CA8295574 rs148366995	250	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8295573 rs769187818	253	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8295572 COSM1588859 rs761162696 COSM978653	253	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1169099805 CA397194685	255	Y>C		No	ClinGen TOPMed
rs775775222 CA8295571	255	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1466440534 CA397194636	257	R>Q		No	ClinGen TOPMed
rs745510115 CA8295569	257	R>W		No	ClinGen ExAC gnomAD
CA8295567 rs770588197	259	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8295565 rs777386537	260	I>F		No	ClinGen ExAC gnomAD
rs1227144196 CA397194530	261	L>Q		No	ClinGen gnomAD
CA287052807 rs908377722	262	G>A		No	ClinGen TOPMed
rs990027389 CA287052369	270	K>M		No	ClinGen Ensembl
rs957249192 CA287052368	270	K>N		No	ClinGen Ensembl
rs144606226 CA8295533	272	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1314961441 CA397192978	277	K>Q		No	ClinGen gnomAD
CA287052366 rs370319027	277	K>R		No	ClinGen ESP TOPMed
CA397192934 rs1275632040	278	P>L		No	ClinGen TOPMed
rs1378766504 CA397192870	280	N>S		No	ClinGen gnomAD
CA397192858 rs1372689998	281	L>V		No	ClinGen Ensembl
CA8295530 rs772937558	285	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1159161691 CA397192776	286	D>N		No	ClinGen gnomAD
CA8295528 rs377491155	288	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA397192696 rs377491155	288	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs140330846 CA8295526	289	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548648072 CA8295527	289	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548648072 CA397192684	289	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1248301164 CA397192664	290	K>T		No	ClinGen gnomAD
rs746903648 CA8295525 COSM978641 COSM1588790	292	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA287052364 rs145381314	293	D>N		No	ClinGen ESP TOPMed
CA8295522 rs200152858	296	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8295521 rs777922449	298	N>D		No	ClinGen ExAC gnomAD
rs867486831 CA287052363	299	Q>H		No	ClinGen gnomAD
CA397192306 rs1358972844	303	N>I		No	ClinGen gnomAD
rs756267627 CA8295520	303	N>K		No	ClinGen ExAC TOPMed gnomAD
rs752862171 CA397192276	304	D>E		No	ClinGen ExAC TOPMed gnomAD
rs767490064 CA8295518	305	A>S		No	ClinGen ExAC gnomAD
rs767490064 CA397192275	305	A>T		No	ClinGen ExAC gnomAD
rs567177203 CA287052361	305	A>V		No	ClinGen Ensembl
rs371028799 CA287052360	306	Q>E		No	ClinGen ESP TOPMed
rs755567907 CA8295517	309	S>G		No	ClinGen ExAC gnomAD
CA8295516 rs752055786	310	T>M		No	ClinGen ExAC TOPMed gnomAD
CA287052359 rs1049220861	311	A>V		No	ClinGen TOPMed
COSM1199473 COSM1199472 rs764993423 CA8295512	320	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1453227047 CA397191743	326	G>D		No	ClinGen gnomAD
rs377123035 CA8295509	326	G>S		No	ClinGen ESP ExAC gnomAD
CA397191734 rs1453227047	326	G>V		No	ClinGen gnomAD
CA397191659 rs1265246111	330	S>C		No	ClinGen gnomAD
rs1597466454 CA397191655	330	S>T		No	ClinGen Ensembl
CA397191631 rs1208124525	331	G>W		No	ClinGen gnomAD
CA397191599 rs1275452685	332	K>R		No	ClinGen gnomAD
CA8295482 rs781234647	336	V>I		No	ClinGen ExAC gnomAD
CA8295480 rs747139208	338	A>S		No	ClinGen ExAC gnomAD
CA397190329 rs1279529960	340	G>D		No	ClinGen TOPMed
rs200681197 CA8295478	341	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750900151 CA8295477	342	T>M		No	ClinGen ExAC gnomAD
rs1238145627 CA397190284	343	L>S		No	ClinGen TOPMed
CA397190257 rs1567621342	344	Y>C		No	ClinGen Ensembl
CA287051985 rs964073520	344	Y>H		No	ClinGen Ensembl
rs1429025758 CA397190213	345	C>S		No	ClinGen TOPMed gnomAD
CA8295474 rs753548837	347	V>A		No	ClinGen ExAC TOPMed gnomAD
rs763702440 CA8295473	348	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8295451 rs767020409	351	C>G		No	ClinGen ExAC gnomAD
COSM978636 rs1324260775 CA397189254 COSM1588791	352	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs766278437 CA8295448	354	I>S		No	ClinGen ExAC
CA8295449 rs751541430	354	I>V		No	ClinGen ExAC TOPMed gnomAD
rs772950608 COSM978635 COSM1588792 CA8295446	355	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1462492311 CA397189149	356	D>G		No	ClinGen gnomAD
rs776802217 CA287051872	356	D>N		No	ClinGen gnomAD
CA397189127 rs1197318602	357	F>I		No	ClinGen TOPMed
rs1597459130 CA397189038	358	I>N		No	ClinGen Ensembl
CA397189017 rs1475357394	360	A>P		No	ClinGen gnomAD
CA8295443 rs775812310	362	H>Y		No	ClinGen ExAC gnomAD
rs1449440948 CA397188910	363	R>T		No	ClinGen gnomAD
CA397188848 rs1205352202	366	K>E		No	ClinGen gnomAD
rs1343880256 CA397188830	366	K>R		No	ClinGen gnomAD
rs200825064 CA8295441	369	P>A		No	ClinGen ExAC TOPMed gnomAD
rs200825064 CA8295440	369	P>S		No	ClinGen ExAC TOPMed gnomAD
rs371888456 CA8295438	370	V>M		No	ClinGen ESP ExAC gnomAD
CA8295437 rs778123502	371	V>M		No	ClinGen ExAC gnomAD
CA397188609 rs1434224862	372	F>C		No	ClinGen gnomAD
rs756405384 CA8295435	374	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8295434 rs7214723	375	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397186807 rs1345224644	377	E>Q		No	ClinGen TOPMed
CA287051392 rs371110577	379	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8295411 rs371110577	379	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8295410 rs779040658	379	S>R		No	ClinGen ExAC TOPMed gnomAD
CA397186700 rs779040658	379	S>R		No	ClinGen ExAC TOPMed gnomAD
rs757228915 CA8295409	380	E>K		No	ClinGen ExAC TOPMed gnomAD
CA397186608 rs1285671110	381	E>K		No	ClinGen TOPMed
CA287051391 rs868607765	383	K>N		No	ClinGen Ensembl
rs753752574 CA8295408	384	D>E		No	ClinGen ExAC TOPMed gnomAD
rs933231831 CA287051390	384	D>V		No	ClinGen TOPMed
CA8295406 rs759692250	388	K>R		No	ClinGen ExAC TOPMed gnomAD
rs751738404 CA397186387	389	M>L		No	ClinGen ExAC TOPMed gnomAD
rs751738404 CA8295405	389	M>V		No	ClinGen ExAC TOPMed gnomAD
CA397186371 rs1226853353	390	L>I		No	ClinGen gnomAD
CA8295404 rs376135046	391	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA287051387 rs373110996	392	K>R		No	ClinGen ESP TOPMed
rs763041762 CA8295403	393	N>H		No	ClinGen ExAC gnomAD
COSM1588793 COSM978634 CA397186176 rs1157776249	395	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs575780308 CA8295400	396	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200501188 CA8295399	396	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8295398 rs200501188	396	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200501188 CA397186142	396	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779704949 CA8295396	398	I>T		No	ClinGen ExAC TOPMed gnomAD
CA397186093 rs539271817	399	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539271817 CA8295395	399	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397186047 rs1016279205	402	D>G		No	ClinGen Ensembl
CA287051386 rs1016279205	402	D>V		No	ClinGen Ensembl
rs1597450129 CA397185884	406	H>P		No	ClinGen Ensembl
rs758681201 CA8295367	406	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA397185887 rs1211395047	406	H>Y		No	ClinGen TOPMed
rs1410945234 CA397185823	408	W>R		No	ClinGen TOPMed gnomAD
rs750590503 CA397185760	411	K>R		No	ClinGen ExAC gnomAD
CA8295366 rs750590503	411	K>T		No	ClinGen ExAC gnomAD
CA8295364 rs373724184	413	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1475008148 CA397185679	414	E>D		No	ClinGen TOPMed
CA8295363 rs200526253	414	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA287051369 rs950798383	415	E>K		No	ClinGen Ensembl
CA8295362 rs200971966	416	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA397185630 rs1171149650	417	L>I		No	ClinGen TOPMed
CA287051368 rs267604880	418	P>S		No	ClinGen Ensembl
rs552614551 COSM978632 COSM1153067 CA8295359	419	S>L	central_nervous_system endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs552614551 CA8295360	419	S>W		No	ClinGen ExAC TOPMed gnomAD
CA8295357 rs774106975	421	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8295356 rs145473337	422	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1597449934 CA397185501	423	H>N		No	ClinGen Ensembl
CA8295354 rs374592754	425	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs191868145 CA8295352	426	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8295351 rs748025830	430	T>S		No	ClinGen ExAC gnomAD
CA397185345 rs1320415705	431	E>K		No	ClinGen TOPMed
rs754705682 CA8295349	432	E>D		No	ClinGen ExAC TOPMed gnomAD
rs746107831 CA8295348	435	K>N		No	ClinGen ExAC TOPMed gnomAD
rs779151911 CA397185239	436	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1021135833 CA287051366	441	I>M		No	ClinGen TOPMed
rs764066472 CA8295343	442	P>R		No	ClinGen ExAC TOPMed gnomAD
CA397185069 rs1174356757	443	S>C		No	ClinGen gnomAD
rs1252635785 CA397185059	443	S>R		No	ClinGen gnomAD
rs370703462 CA8295342	443	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA397184973 rs1436312447	446	T>M		No	ClinGen TOPMed gnomAD
rs1201424719 CA397184959	447	V>A		No	ClinGen gnomAD
CA8295313 rs749981972	448	I>T		No	ClinGen ExAC gnomAD
rs377707533 CA8295312	450	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320339099 CA397183278	453	M>V		No	ClinGen gnomAD
CA397183210 rs1399087661	456	K>R		No	ClinGen gnomAD
CA397183183 rs1567610065	457	R>C		No	ClinGen Ensembl
CA8295310 rs776101005	457	R>H		No	ClinGen ExAC TOPMed gnomAD
rs776101005 CA287050743	457	R>L		No	ClinGen ExAC TOPMed gnomAD
CA287050742 rs866827923	460	G>R		No	ClinGen Ensembl
rs760604494 CA8295308	463	F>S		No	ClinGen ExAC gnomAD
CA8295306 rs771707252	467	A>E		No	ClinGen ExAC gnomAD
rs375559181 COSM1199469 CA8295303 COSM1199468	468	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs369459857 COSM978630 COSM1588795 CA8295304	468	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA287050741 rs1028946778	469	R>K		No	ClinGen TOPMed
CA287050740 rs200214536	472	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8295302 rs200214536	472	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1443331103 CA397182633	473	S>C		No	ClinGen TOPMed
rs781407204 CA397182574	474	M>I		No	ClinGen ExAC TOPMed gnomAD
rs781407204 CA8295301	474	M>I		No	ClinGen ExAC TOPMed gnomAD
CA397182593 rs1363972079	474	M>L		No	ClinGen gnomAD
CA287050739 rs199612792	477	P>A		No	ClinGen Ensembl
CA287050738 rs996167610	478	G>R		No	ClinGen Ensembl
CA397182449 rs1325868830	479	N>H		No	ClinGen gnomAD
CA397182369 rs1303869941	482	V>L		No	ClinGen TOPMed gnomAD
rs895381358 CA287047730	483	K>Q		No	ClinGen TOPMed
rs780381681 CA8295281	485	G>E		No	ClinGen ExAC TOPMed gnomAD
CA287047728 rs199791439	486	F>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA8295280 rs373181676	487	G>R		No	ClinGen ESP ExAC gnomAD
rs1442003101 CA397180648	488	E>K		No	ClinGen gnomAD
CA397180617 rs1339191067	489	G>E		No	ClinGen TOPMed gnomAD
CA397180623 rs867974545	489	G>R		No	ClinGen gnomAD
rs867974545 CA287047721	489	G>W		No	ClinGen gnomAD
CA397180590 rs867287728	490	G>A		No	ClinGen TOPMed gnomAD
CA287047715 rs867287728	490	G>D		No	ClinGen TOPMed gnomAD
rs1427927230 CA397180573	491	K>E		No	ClinGen gnomAD
rs1159248875 CA397180505	492	S>I		No	ClinGen gnomAD
CA397180516 rs1159248875	492	S>N		No	ClinGen gnomAD
rs1420482155 CA397180470	493	P>L		No	ClinGen gnomAD
CA8295279 rs746280140	494	E>K		No	ClinGen ExAC gnomAD
CA397180437 rs1176407139	494	E>V		No	ClinGen gnomAD
rs1244763534 CA397180350	496	P>S		No	ClinGen gnomAD
rs1262552044 CA397180314	497	G>A		No	ClinGen TOPMed gnomAD
rs377752333 CA8295275	497	G>C		No	ClinGen ESP ExAC gnomAD
CA397180318 rs1262552044	497	G>D		No	ClinGen TOPMed gnomAD
COSM1709579 rs377752333 CA8295276	497	G>S	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs199594337 CA8295274	498	V>I		No	ClinGen ExAC TOPMed gnomAD
rs144792679 CA8295273	499	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8295272 rs144792679	499	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397180199 rs1317637322	502	E>K		No	ClinGen gnomAD
rs752473571 CA397180176	503	A>S		No	ClinGen gnomAD
rs752473571 CA287047698	503	A>T		No	ClinGen gnomAD
CA287047696 rs928896798	505	S>P		No	ClinGen TOPMed gnomAD

No associated diseases with Q8N5S9

3 regional properties for Q8N5S9

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	128 - 409	IPR000719
active_site	Serine/threonine-protein kinase, active site	271 - 283	IPR008271
binding_site	Protein kinase, ATP binding site	134 - 157	IPR017441

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

6 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
calmodulin-dependent protein kinase activity	Calmodulin-dependent catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate.
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.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.

2 GO annotations of biological process

Name	Definition
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
positive regulation of protein kinase activity	Any process that activates or increases the frequency, rate or extent of protein kinase activity.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q96RR4	CAMKK2	Calcium/calmodulin-dependent protein kinase kinase 2	Homo sapiens (Human)	PR
Q96L34	MARK4	MAP/microtubule affinity-regulating kinase 4	Homo sapiens (Human)	SS
Q9P0L2	MARK1	Serine/threonine-protein kinase MARK1	Homo sapiens (Human)	EV
Q7KZI7	MARK2	Serine/threonine-protein kinase MARK2	Homo sapiens (Human)	SS
Q96RG2	PASK	PAS domain-containing serine/threonine-protein kinase	Homo sapiens (Human)	EV
P27448	MARK3	MAP/microtubule affinity-regulating kinase 3	Homo sapiens (Human)	SS
Q8C078	Camkk2	Calcium/calmodulin-dependent protein kinase kinase 2	Mus musculus (Mouse)	PR
Q8VBY2	Camkk1	Calcium/calmodulin-dependent protein kinase kinase 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MEGGPAVCCQ	DPRAELVERV	AAIDVTHLEE	ADGGPEPTRN	GVDPPPRARA	ASVIPGSTSR
70	80	90	100	110	120
LLPARPSLSA	RKLSLQERPA	GSYLEAQAGP	YATGPASHIS	PRAWRRPTIE	SHHVAISDAE
130	140	150	160	170	180
DCVQLNQYKL	QSEIGKGAYG	VVRLAYNESE	DRHYAMKVLS	KKKLLKQYGF	PRRPPPRGSQ
190	200	210	220	230	240
AAQGGPAKQL	LPLERVYQEI	AILKKLDHVN	VVKLIEVLDD	PAEDNLYLVF	DLLRKGPVME
250	260	270	280	290	300
VPCDKPFSEE	QARLYLRDVI	LGLEYLHCQK	IVHRDIKPSN	LLLGDDGHVK	IADFGVSNQF
310	320	330	340	350	360
EGNDAQLSST	AGTPAFMAPE	AISDSGQSFS	GKALDVWATG	VTLYCFVYGK	CPFIDDFILA
370	380	390	400	410	420
LHRKIKNEPV	VFPEEPEISE	ELKDLILKML	DKNPETRIGV	PDIKLHPWVT	KNGEEPLPSE
430	440	450	460	470	480
EEHCSVVEVT	EEEVKNSVRL	IPSWTTVILV	KSMLRKRSFG	NPFEPQARRE	ERSMSAPGNL
490	500
LVKEGFGEGG	KSPELPGVQE	DEAAS