AiPD: Autoinhibited Protein Database

P48730

Gene name	CSNK1D (HCKID)
Protein name	Casein kinase I isoform delta
Names	CSF-1 receptor, CSF-1-R, CSF-1R, M-CSF-R, Proto-oncogene c-Fms, CKI-delta, CKId, Tau-protein kinase CSNK1D
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1453
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

Casein kinase I epsilon (CSNK1D) is a member of CKI family and is involved in signaling, circadian clock, DNA repair, and metabolism. In a study with human CSNK1E, proteolytic lysis of C-terminal region relieves autoinhibition.

Autoinhibitory domains (AIDs)

317-342 (C-terminal domain) SS

Target domain	9-287 (Protein kinase domain)
Relief mechanism	Cleavage, PTM
Assay

AID

317-342 (C-terminal domain)

Target domain

9-287 (Protein kinase domain)

Relief mechanism

Cleavage (Proteolytic cleavage of C-terminal domain), PTM (Dephosphorylation)

Assay

Accessory elements

148-178 (Activation loop from InterPro)

Target domain	9-287 (Protein kinase domain)
Relief mechanism
Assay

References

Cegielska A et al. (1998) "Autoinhibition of casein kinase I epsilon (CKI epsilon) is relieved by protein phosphatases and limited proteolysis", The Journal of biological chemistry, 273, 1357-64

Autoinhibited structure

Activated structure

43 structures for P48730

Entry ID	Method	Resolution	Chain	Position	Source
3UYS	X-ray	230 A	A/B/C/D	1-294	PDB
3UYT	X-ray	200 A	A/B/C/D	1-294	PDB
3UZP	X-ray	194 A	A/B	1-294	PDB
4HGT	X-ray	180 A	A/B	1-294	PDB
4HNF	X-ray	207 A	A/B	1-294	PDB
4KB8	X-ray	195 A	A/B/C/D	3-317	PDB
4KBA	X-ray	198 A	A/B/C/D	3-317	PDB
4KBC	X-ray	198 A	A/B	1-317	PDB
4KBK	X-ray	210 A	A/B/C/D	3-317	PDB
4TN6	X-ray	241 A	A/B	1-301	PDB
4TW9	X-ray	240 A	A/B	1-295	PDB
4TWC	X-ray	170 A	A/B	1-295	PDB
5IH4	X-ray	190 A	A	1-294	PDB
5IH5	X-ray	225 A	A	1-294	PDB
5IH6	X-ray	230 A	A	1-294	PDB
5MQV	X-ray	215 A	A/B/C/D/E/F	1-294	PDB
5OKT	X-ray	213 A	A/B/C/D	1-294	PDB
5W4W	X-ray	199 A	A/B/C/D	3-317	PDB
6F1W	X-ray	186 A	A/B	1-294	PDB
6F26	X-ray	183 A	A/B	1-294	PDB
6GZM	X-ray	159 A	A/B	1-295	PDB
6HMP	X-ray	204 A	A/B	1-294	PDB
6HMR	X-ray	178 A	A/B	1-294	PDB
6PXN	X-ray	155 A	A/B	1-415	PDB
6PXO	X-ray	200 A	A/B	1-294	PDB
6PXP	X-ray	235 A	A/B	1-294	PDB
6RCG	X-ray	140 A	A	1-294	PDB
6RCH	X-ray	145 A	A/B	1-294	PDB
6RU6	X-ray	205 A	A/B	1-294	PDB
6RU7	X-ray	208 A	A/B	1-294	PDB
6RU8	X-ray	192 A	A/B/C/D	1-294	PDB
7NZY	X-ray	185 A	A/B/C/D	1-294	PDB
7P7F	X-ray	196 A	A/B/C/D	1-294	PDB
7P7G	X-ray	170 A	A/B	1-294	PDB
7P7H	X-ray	240 A	A/B	1-294	PDB
7QR9	X-ray	230 A	A/B/C/D	1-294	PDB
7QRA	X-ray	240 A	A/B/C/D	1-294	PDB
7QRB	X-ray	260 A	A/B/C/D	1-294	PDB
8D7M	X-ray	225 A	A/B	1-294	PDB
8D7N	X-ray	166 A	A/B	1-294	PDB
8D7O	X-ray	165 A	A/B	1-294	PDB
8D7P	X-ray	225 A	A/B	1-294	PDB
AF-P48730-F1	Predicted				AlphaFoldDB

263 variants for P48730

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_029075 rs104894561 CA119878 RCV000009280	44	T>A	FASPS2; strongly reduces kinase activity Advanced sleep phase syndrome 2 [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV000043507 rs397514693 CA143736 VAR_069801	46	H>R	FASPS2; strongly reduces kinase activity Advanced sleep phase syndrome 2 [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs865966819 CA295207220	2	E>G		No	ClinGen Ensembl
CA401601776 rs1241370264	7	N>S		No	ClinGen gnomAD
rs1237685687 CA401601711	9	Y>C		No	ClinGen Ensembl
CA401601688 rs1187909652	10	R>W		No	ClinGen gnomAD
CA8855793 rs753648490	13	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1242602257 CA401601370	23	I>T		No	ClinGen TOPMed
rs773871723 CA8855787	25	L>F		No	ClinGen ExAC TOPMed gnomAD
rs773871723 CA401601317	25	L>V		No	ClinGen ExAC TOPMed gnomAD
CA401597352 rs1259310087	26	G>A		No	ClinGen gnomAD
CA401597322 rs1213286514	27	T>A		No	ClinGen gnomAD
rs1263225160 CA401597249	28	D>G		No	ClinGen gnomAD
rs1224756005 CA401597213	29	I>T		No	ClinGen gnomAD
rs11552084 CA8855752	30	A>V		No	ClinGen ExAC TOPMed gnomAD
CA295203535 rs374554993	32	G>V		No	ClinGen ESP TOPMed gnomAD
rs779980656 CA8855750	33	E>K		No	ClinGen ExAC gnomAD
CA401597082 rs1407031965	34	E>D		No	ClinGen gnomAD
CA295203533 rs570205864	40	E>Q		No	ClinGen Ensembl
rs745633574 CA8855749	45	K>R		No	ClinGen ExAC gnomAD
rs1599615072 CA401596893	48	Q>R		No	ClinGen Ensembl
CA8855745 rs763803454	56	Y>C		No	ClinGen ExAC gnomAD
rs757837678 CA8855744	58	M>T		No	ClinGen ExAC TOPMed gnomAD
rs752166349 CA8855743	59	M>L		No	ClinGen ExAC TOPMed gnomAD
CA401596728 rs1484202328	60	Q>L		No	ClinGen TOPMed gnomAD
CA8855715 rs764370790	68	I>M		No	ClinGen ExAC gnomAD
rs1599597228 CA401592181	69	R>*		No	ClinGen Ensembl
rs11552086 CA401592131	71	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769750217 CA8855712	72	G>R		No	ClinGen ExAC TOPMed gnomAD
rs759730221 CA8855711	75	G>E		No	ClinGen ExAC
CA295197081 rs1019570752	77	Y>F		No	ClinGen TOPMed
rs967236793 CA295197068	79	V>I		No	ClinGen TOPMed gnomAD
rs533632187 CA8855706	91	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs746760351 CA8855707	91	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8855705 rs771944737	92	L>P		No	ClinGen ExAC gnomAD
CA8855704 rs747737044	94	N>S		No	ClinGen ExAC gnomAD
CA401591846 rs747737044	94	N>T		No	ClinGen ExAC gnomAD
COSM1727329 rs1599597088 CA401591798 COSM1727331 COSM1727330	97	S>A	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
CA295197024 rs186931747	105	V>I		No	ClinGen 1000Genomes
CA401591211 rs1319507130	113	I>M		No	ClinGen gnomAD
CA8855672 rs765330241	115	R>C		No	ClinGen ExAC TOPMed gnomAD
rs755262352 CA8855671	116	I>V		No	ClinGen ExAC gnomAD
rs1169472812 CA401591033	125	I>V		No	ClinGen gnomAD
rs1474323699 CA401591005	127	R>W		No	ClinGen gnomAD
CA8855664 rs768375287	133	N>S		No	ClinGen ExAC gnomAD
CA8855663 rs768375287	133	N>T		No	ClinGen ExAC gnomAD
CA401590903 rs1241436238	134	F>L		No	ClinGen gnomAD
CA8855661 rs775340463	136	M>V		No	ClinGen ExAC gnomAD
CA8855660 rs769422656	137	G>V		No	ClinGen ExAC gnomAD
CA401590811 rs1477157655	140	K>R		No	ClinGen TOPMed
rs778084733 CA8855658	141	K>R		No	ClinGen ExAC TOPMed gnomAD
rs748422475 CA401590761	143	N>I		No	ClinGen ExAC TOPMed gnomAD
CA8855656 rs748422475	143	N>S		No	ClinGen ExAC TOPMed gnomAD
CA401590732 rs1568564655	145	V>A		No	ClinGen Ensembl
CA401590737 rs1360479705	145	V>M		No	ClinGen TOPMed
CA401590643 rs1346523413	151	G>R		No	ClinGen TOPMed
rs1236248654 CA401590569	160	R>G		No	ClinGen TOPMed
CA295195109 rs888400777	161	T>I		No	ClinGen Ensembl
CA401590547 rs1369725091	163	Q>R		No	ClinGen gnomAD
rs1568564548 CA401590541	164	H>Y		No	ClinGen Ensembl
CA401590465 rs1221075352	174	T>M		No	ClinGen TOPMed
CA401590453 rs1441835279	176	T>M		No	ClinGen gnomAD
CA401590448 rs1470570505	177	A>V		No	ClinGen gnomAD
rs762907794 CA8855645	180	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1361208615 CA401590416	182	I>M		No	ClinGen gnomAD
rs1287342957 CA401590402	184	T>M		No	ClinGen gnomAD
CA8855621 rs774858511	192	R>Q		No	ClinGen ExAC gnomAD
CA401590237 rs1599589497	199	L>M		No	ClinGen Ensembl
CA401590222 rs1225272179	200	G>D		No	ClinGen gnomAD
CA401590210 rs1176507941	201	Y>C		No	ClinGen TOPMed
rs1300397368 CA401590201	202	V>M		No	ClinGen gnomAD
CA401590155 rs1363772181	205	Y>H		No	ClinGen gnomAD
CA8855618 rs199554561	207	N>S		No	ClinGen ExAC TOPMed gnomAD
rs199554561 CA8855617	207	N>T		No	ClinGen ExAC TOPMed gnomAD
CA401590055 rs1434575965	210	S>C		No	ClinGen gnomAD
rs368156314 CA8855616	213	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8855615 rs781333608	214	Q>L		No	ClinGen ExAC gnomAD
rs1167438890 CA401589887	220	T>I		No	ClinGen TOPMed
CA401589878 rs1430695776	221	K>E		No	ClinGen gnomAD
rs550968524 CA8855614	222	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401589842 rs1461825025	223	Q>E		No	ClinGen TOPMed
rs751603814 CA8855613	223	Q>P		No	ClinGen ExAC gnomAD
rs149588488 CA401589784	225	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1243287980 CA401589760	226	E>D		No	ClinGen gnomAD
rs1394868634 CA401589778	226	E>K		No	ClinGen TOPMed
rs1482261764 CA401589699	230	E>K		No	ClinGen gnomAD
rs771714670 CA295194619	233	M>T		No	ClinGen Ensembl
COSM1387458 COSM1387459 CA8855609 rs765104663 COSM1387460	238	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs759310090 CA8855608	239	V>G		No	ClinGen ExAC gnomAD
rs1228033677 CA401589520	239	V>L		No	ClinGen gnomAD
CA8855607 rs753528330	243	G>S		No	ClinGen ExAC gnomAD
rs1274692769 CA401589423	244	Y>H		No	ClinGen TOPMed
rs760179893 CA8855605	245	P>H		No	ClinGen ExAC gnomAD
CA8855606 rs765954990	245	P>S		No	ClinGen ExAC gnomAD
CA401588277 rs1390518373	246	S>F		No	ClinGen TOPMed
rs1350389912 COSM260314 CA401588272 COSM1589278 COSM260313	247	E>K	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA401588235 rs1327748102	249	A>V		No	ClinGen gnomAD
CA401588214 rs1438591598	251	Y>F		No	ClinGen TOPMed
rs1438591598 CA401588218	251	Y>S		No	ClinGen TOPMed
CA8855576 rs773629124	256	R>H		No	ClinGen ExAC gnomAD
COSM986096 CA401588119 COSM1589279 COSM986097 rs1277829453	259	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA401588120 rs1277829453	259	R>G		No	ClinGen TOPMed
CA8855573 rs778940528	259	R>H		No	ClinGen ExAC gnomAD
CA295193642 rs375415516	262	D>N		No	ClinGen ESP
CA401588028 rs1458389640	266	Y>C		No	ClinGen gnomAD
rs532199664 CA8855571	267	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401587995 rs755992825	269	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1568561803 CA401587894	278	H>N		No	ClinGen Ensembl
COSM1387453 CA8855565 COSM1387454 COSM1387452 rs751091452	279	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8855563 rs759929828	284	Y>F		No	ClinGen ExAC gnomAD
CA401587805 rs1347743440	286	Y>C		No	ClinGen gnomAD
CA295193562 rs978719691	287	V>G		No	ClinGen TOPMed
rs763658915 CA295193567	287	V>M		No	ClinGen Ensembl
CA401587787 rs1436757033	289	D>G		No	ClinGen gnomAD
CA295193555 rs975472022	289	D>N		No	ClinGen TOPMed gnomAD
CA401587788 rs975472022	289	D>Y		No	ClinGen TOPMed gnomAD
CA8855560 rs761190812	294	K>R		No	ClinGen ExAC gnomAD
CA295191858 rs868758969	296	G>C		No	ClinGen Ensembl
rs1457863447 CA401587209	296	G>D		No	ClinGen gnomAD
CA401587199 rs1157602834	297	A>G		No	ClinGen gnomAD
rs776609527 CA8855516	297	A>T		No	ClinGen ExAC gnomAD
rs370481116 CA295191849	298	S>I		No	ClinGen ESP gnomAD
CA295191847 rs866797018	299	R>L		No	ClinGen TOPMed gnomAD
CA401587173 rs866797018	299	R>Q		No	ClinGen TOPMed gnomAD
rs1193267169 CA401587168	300	A>S		No	ClinGen gnomAD
CA401587164 rs1193267169	300	A>T		No	ClinGen gnomAD
CA8855514 rs200574246	301	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA401587149 rs1220311287	301	A>V		No	ClinGen gnomAD
rs771783029 CA295191838	302	D>H		No	ClinGen ExAC TOPMed gnomAD
CA8855512 rs771783029	302	D>N		No	ClinGen ExAC TOPMed gnomAD
CA295191828 rs771783029	302	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs71375089 CA8855510	304	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377013028 CA295191815	305	E>D		No	ClinGen ESP TOPMed gnomAD
CA401587108 rs1220708126	305	E>K		No	ClinGen gnomAD
rs868456080 CA295191806	306	R>L		No	ClinGen TOPMed gnomAD
CA401587100 rs868456080	306	R>Q		No	ClinGen TOPMed gnomAD
CA8855508 rs746370507	306	R>W		No	ClinGen ExAC gnomAD
CA8855507 rs781765055	308	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8855506 rs757504731	308	R>H		No	ClinGen ExAC TOPMed gnomAD
CA401587088 rs757504731	308	R>P		No	ClinGen ExAC TOPMed gnomAD
rs953442356 CA295191797	309	R>G		No	ClinGen Ensembl
rs1431828987 CA401587085	309	R>K		No	ClinGen gnomAD
rs751975200 CA8855505	310	D>N		No	ClinGen ExAC gnomAD
rs373816900 CA295191790	311	R>*		No	ClinGen ESP
rs764181633 CA8855504	311	R>L		No	ClinGen ExAC TOPMed gnomAD
rs764181633 CA401587071	311	R>P		No	ClinGen ExAC TOPMed gnomAD
rs764181633 CA401587072	311	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs758614926 CA8855503	314	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1467616126 CA401587053	314	R>W		No	ClinGen TOPMed gnomAD
CA295191769 rs207476605	316	R>G		No	ClinGen Ensembl
rs1310228538 CA401587015	317	H>Q		No	ClinGen gnomAD
CA401587022 rs1212089510	317	H>R		No	ClinGen TOPMed gnomAD
rs1030456909 CA295191766	318	S>L		No	ClinGen Ensembl
rs1229495379 CA401586998	319	R>Q		No	ClinGen gnomAD
rs1295552778 CA401586979	320	N>K		No	ClinGen TOPMed gnomAD
rs1599582467 CA401586975	321	P>A		No	ClinGen Ensembl
CA401586970 rs1434506934	321	P>L		No	ClinGen TOPMed gnomAD
CA401586955 rs1305125115	322	A>V		No	ClinGen gnomAD
rs765288876 CA8855501	323	T>A		No	ClinGen ExAC gnomAD
CA401586937 rs1359016883	324	R>C		No	ClinGen gnomAD
rs1169611056 CA401586934	324	R>H		No	ClinGen TOPMed gnomAD
rs1391596911 CA401586926	325	G>S		No	ClinGen gnomAD
rs1427430485 CA401586890	327	P>L		No	ClinGen gnomAD
rs1256166829 CA401586866	329	T>I		No	ClinGen gnomAD
CA295191750 rs1130774	330	A>D		No	ClinGen Ensembl
CA295191746 rs1015587498	332	G>S		No	ClinGen TOPMed gnomAD
CA295191741 rs887426479	333	R>C		No	ClinGen TOPMed
rs760362728 CA8855497	333	R>H		No	ClinGen ExAC TOPMed gnomAD
CA401586811 rs1322411760	335	R>Q		No	ClinGen TOPMed gnomAD
rs1227880666 CA401586813	335	R>W		No	ClinGen TOPMed gnomAD
CA401586799 rs1394862973	336	G>R		No	ClinGen TOPMed gnomAD
rs1015966592 CA295191733	337	T>A		No	ClinGen TOPMed
CA8855495 rs771790792	337	T>M		No	ClinGen ExAC TOPMed gnomAD
rs896184066 CA295191725	338	Q>R		No	ClinGen TOPMed gnomAD
rs1178148387 CA401586752	339	E>G		No	ClinGen TOPMed
rs1568558604 CA401586759	339	E>K		No	ClinGen Ensembl
rs1166274456 CA401586722	341	A>V		No	ClinGen TOPMed gnomAD
CA295191709 rs906917946	342	P>A		No	ClinGen TOPMed gnomAD
CA295191705 rs906917946	342	P>S		No	ClinGen TOPMed gnomAD
CA401586709 rs1182754676	343	P>S		No	ClinGen TOPMed gnomAD
rs1282784883 CA401586694	344	T>I		No	ClinGen TOPMed
CA401586686 rs1195517111	345	P>L		No	ClinGen TOPMed gnomAD
CA401586687 rs1195517111	345	P>R		No	ClinGen TOPMed gnomAD
rs1249267192 CA401586691	345	P>S		No	ClinGen gnomAD
rs1045626243 CA295191696	346	L>F		No	ClinGen TOPMed
CA295191692 rs570888801	346	L>P		No	ClinGen 1000Genomes
CA295191684 rs913172660	347	T>I		No	ClinGen Ensembl
rs1242656044 CA401586665	349	T>I		No	ClinGen gnomAD
rs78642182 CA295191672	350	S>*		No	ClinGen TOPMed
rs78642182 CA401586661	350	S>L		No	ClinGen TOPMed
rs768280334 CA8855492	352	T>K		No	ClinGen ExAC TOPMed gnomAD
rs768280334 CA295191651	352	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1363397376 CA401586570	353	A>G		No	ClinGen TOPMed
CA401586643 rs1349022794	353	A>T		No	ClinGen gnomAD
CA401586549 rs1599581112	355	T>P		No	ClinGen Ensembl
rs1231702318 CA401586534	356	S>F		No	ClinGen gnomAD
rs1297748091 CA401586527	357	P>H		No	ClinGen gnomAD
rs1297748091 CA401586523	357	P>L		No	ClinGen gnomAD
rs1297748091 CA401586525	357	P>R		No	ClinGen gnomAD
rs749899289 CA295191334	357	P>T		No	ClinGen Ensembl
CA401586520 rs761582856	358	R>G		No	ClinGen ExAC TOPMed gnomAD
CA295191328 rs147321335	358	R>Q		No	ClinGen ESP TOPMed
CA8855476 rs761582856	358	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8855473 rs762523265	360	V>A		No	ClinGen ExAC gnomAD
rs768474492 CA8855474	360	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1262527577 CA401586484	361	S>C		No	ClinGen gnomAD
CA295191307 rs932654301	362	G>S		No	ClinGen TOPMed gnomAD
CA401586451 rs1447747955	363	M>I		No	ClinGen gnomAD
CA295191299 rs1049612674	363	M>L		No	ClinGen gnomAD
rs919934957 CA295191291	364	E>G		No	ClinGen TOPMed gnomAD
CA401586430 rs1444626272	365	R>K		No	ClinGen gnomAD
rs1599580945 CA401586397	369	V>G		No	ClinGen Ensembl
rs1343272024 CA401586376	372	R>Q		No	ClinGen gnomAD
rs866358058 CA295191285	372	R>W		No	ClinGen gnomAD
rs1436539965 CA401586368	374	H>Y		No	ClinGen TOPMed
rs1230079982 CA401586362	375	R>C		No	ClinGen TOPMed gnomAD
CA295191281 rs940100845	375	R>H		No	ClinGen TOPMed gnomAD
rs1230079982 CA401586360	375	R>S		No	ClinGen TOPMed gnomAD
CA8855469 rs375067439	376	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA295191269 rs991943378	377	A>T		No	ClinGen TOPMed gnomAD
rs1413972372 CA401586348	377	A>V		No	ClinGen TOPMed gnomAD
rs960566225 CA295191268	378	P>A		No	ClinGen TOPMed gnomAD
rs960566225 CA401586346	378	P>S		No	ClinGen TOPMed gnomAD
CA401586341 rs571020217	379	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs571020217 CA8855467	379	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1358965550 CA401586314	383	S>A		No	ClinGen TOPMed
CA8855465 rs376492459	383	S>L		No	ClinGen ExAC gnomAD
rs1337870264 CA401586306	384	S>C		No	ClinGen TOPMed
CA8855461 rs780128834	385	D>N		No	ClinGen ExAC gnomAD
rs1271736608 CA401586283	388	G>D		No	ClinGen gnomAD
CA401586279 rs1357799069	389	R>*		No	ClinGen gnomAD
rs747854663 CA8855459	389	R>L		No	ClinGen ExAC TOPMed gnomAD
rs747854663 CA401586277	389	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA401586275 rs1232536267	390	Q>E		No	ClinGen gnomAD
CA8855457 rs761681213	391	D>G		No	ClinGen ExAC TOPMed gnomAD
CA401586268 rs1309609192	391	D>N		No	ClinGen gnomAD
CA401586251 rs751442364	393	S>C		No	ClinGen ExAC TOPMed gnomAD
CA8855456 rs751442364	393	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1324407174 CA401586255	393	S>T		No	ClinGen TOPMed gnomAD
rs764013097 CA8855455	394	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8855454 rs762645816	394	R>H		No	ClinGen ExAC TOPMed gnomAD
rs756900240 CA295191189	395	M>V		No	ClinGen Ensembl
rs1473199876 CA401586233	396	S>F		No	ClinGen gnomAD
rs1180442296 CA401586231	397	T>A		No	ClinGen gnomAD
VAR_042081 rs56124628 CA8855369	401	P>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs375145901 CA8855368	402	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA295185394 rs986726708	403	R>Q		No	ClinGen TOPMed
CA8855367 rs759798079	403	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1311294745 CA401585038	404	V>M		No	ClinGen gnomAD
rs754293657 CA401585016	405	A>G		No	ClinGen ExAC TOPMed gnomAD
rs375684280 CA295185393	405	A>T		No	ClinGen Ensembl
rs754293657 CA8855366	405	A>V		No	ClinGen ExAC TOPMed gnomAD
CA401584997 rs1390929026	407	S>G		No	ClinGen gnomAD
rs1169701746 CA401584968	410	Q>*		No	ClinGen gnomAD
rs1474445482 CA401584945	411	S>C		No	ClinGen gnomAD
rs372063084 CA8855363	413	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA401584919 rs1271270920	414	H>Y		No	ClinGen gnomAD
rs771974980 CA8855362	415	R>*		No	ClinGen ExAC gnomAD
rs762015722 CA8855361	415	R>L		No	ClinGen ExAC TOPMed gnomAD
CA401584911 rs762015722	415	R>P		No	ClinGen ExAC TOPMed gnomAD
rs762015722 CA401584912	415	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA295185349 rs774136610	416	R>L		No	ClinGen ExAC gnomAD
CA295185340 rs774136610	416	R>S		No	ClinGen ExAC gnomAD

1 associated diseases with P48730

[MIM: 615224]: Advanced sleep phase syndrome, familial, 2 (FASPS2)

An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. {ECO:0000269|PubMed:15800623, ECO:0000269|PubMed:23636092}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. {ECO:0000269|PubMed:15800623, ECO:0000269|PubMed:23636092}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P48730

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	9 - 287	IPR000719
active_site	Serine/threonine-protein kinase, active site	124 - 136	IPR008271
binding_site	Protein kinase, ATP binding site	15 - 38	IPR017441

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm Nucleus Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, perinuclear region Cell membrane Cytoplasm, cytoskeleton, spindle Golgi apparatus	Localized at mitotic spindle microtubules, and at the centrosomes and interphase in interphase cells Recruited to the spindle apparatus and the centrosomes in response to DNA-damage Correct subcellular localization requires kinase activity
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

13 GO annotations of cellular component

Name	Definition
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
ciliary basal body	A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport.
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.
endoplasmic reticulum-Golgi intermediate compartment membrane	The lipid bilayer surrounding any of the compartments of the endoplasmic reticulum (ER)-Golgi intermediate compartment system.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
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.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
spindle	The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.
spindle microtubule	Any microtubule that is part of a mitotic or meiotic spindle; anchored at one spindle pole.

7 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
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.
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.
tau-protein kinase activity	Catalysis of the reaction: ATP + tau-protein = ADP + O-phospho-tau-protein.

19 GO annotations of biological process

Name	Definition
cellular response to nerve growth factor stimulus	A 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 nerve growth factor stimulus.
circadian regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression such that an expression pattern recurs with a regularity of approximately 24 hours.
COPII vesicle coating	The addition of COPII proteins and adaptor proteins to ER membranes during the formation of transport vesicles, forming a vesicle coat.
Golgi organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
microtubule nucleation	The process in which tubulin alpha-beta heterodimers begin aggregation to form an oligomeric tubulin structure (a microtubule seed). Microtubule nucleation is the initiating step in the formation of a microtubule in the absence of any existing microtubules ('de novo' microtubule formation).
non-motile cilium assembly	The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium.
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
positive regulation of canonical Wnt signaling pathway	Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of non-canonical Wnt signaling pathway	Any process that activates or increases the frequency, rate or extent of non-canonical Wnt-activated signaling pathway.
positive regulation of proteasomal ubiquitin-dependent protein catabolic process	Any process that activates or increases the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
positive regulation of protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation	Any process that activates or increases the frequency, rate or extent of Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation.
protein localization to centrosome	A process in which a protein is transported to, or maintained at, the centrosome.
protein localization to cilium	A process in which a protein is transported to, or maintained in, a location within a cilium.
protein localization to Golgi apparatus	A process in which a protein is transported to, or maintained in, a location within the Golgi apparatus.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of circadian rhythm	Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours.
spindle assembly	The aggregation, arrangement and bonding together of a set of components to form the spindle, the array of microtubules and associated molecules that serves to move duplicated chromosomes apart.
Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

16 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P29295	HRR25	Casein kinase I homolog HRR25	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P35508	CSNK1D	Casein kinase I isoform delta	Bos taurus (Bovine)	SS
Q5ZLL1	CSNK1E	Casein kinase I isoform epsilon	Gallus gallus (Chicken)	SS
P49674	CSNK1E	Casein kinase I isoform epsilon	Homo sapiens (Human)	EV
Q86Y07	VRK2	Serine/threonine-protein kinase VRK2	Homo sapiens (Human)	PR
O00311	CDC7	Cell division cycle 7-related protein kinase	Homo sapiens (Human)	PR
Q8BN21	Vrk2	Serine/threonine-protein kinase VRK2	Mus musculus (Mouse)	PR
Q9JMK2	Csnk1e	Casein kinase I isoform epsilon	Mus musculus (Mouse)	SS
Q9DC28	Csnk1d	Casein kinase I isoform delta	Mus musculus (Mouse)	PR
Q06486	Csnk1d	Casein kinase I isoform delta	Rattus norvegicus (Rat)	PR
P42169	C03C10.2	Putative casein kinase I C03C10.2	Caenorhabditis elegans	PR
P34516	K06H7.8	Putative serine/threonine-protein kinase K06H7.1	Caenorhabditis elegans	PR
Q6P647	csnk1d	Casein kinase I isoform delta	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	SS
Q7T2E3	csnk1da	Casein kinase I isoform delta-A	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
Q7ZUS1	vrk1	Serine/threonine-protein kinase VRK1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
Q6P3K7	csnk1db	Casein kinase I isoform delta-B	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MELRVGNRYR	LGRKIGSGSF	GDIYLGTDIA	AGEEVAIKLE	CVKTKHPQLH	IESKIYKMMQ
70	80	90	100	110	120
GGVGIPTIRW	CGAEGDYNVM	VMELLGPSLE	DLFNFCSRKF	SLKTVLLLAD	QMISRIEYIH
130	140	150	160	170	180
SKNFIHRDVK	PDNFLMGLGK	KGNLVYIIDF	GLAKKYRDAR	THQHIPYREN	KNLTGTARYA
190	200	210	220	230	240
SINTHLGIEQ	SRRDDLESLG	YVLMYFNLGS	LPWQGLKAAT	KRQKYERISE	KKMSTPIEVL
250	260	270	280	290	300
CKGYPSEFAT	YLNFCRSLRF	DDKPDYSYLR	QLFRNLFHRQ	GFSYDYVFDW	NMLKFGASRA
310	320	330	340	350	360
ADDAERERRD	REERLRHSRN	PATRGLPSTA	SGRLRGTQEV	APPTPLTPTS	HTANTSPRPV
370	380	390	400	410
SGMERERKVS	MRLHRGAPVN	ISSSDLTGRQ	DTSRMSTSQI	PGRVASSGLQ	SVVHR