AiPD: Autoinhibited Protein Database

Q16816

Gene name	PHKG1 (PHKG)
Protein name	Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform
Names	PHK-gamma-M, Phosphorylase kinase subunit gamma-1, Serine/threonine-protein kinase PHKG1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5260
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

273-387 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

273-387 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

167-189 (Activation loop from InterPro)

Target domain	20-288 (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 Q16816

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q16816-F1	Predicted				AlphaFoldDB

368 variants for Q16816

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA159022398 rs201064492	2	T>I		No	ClinGen Ensembl
rs200186158 COSM1292532 CA367610002	3	R>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4270444 rs200186158	3	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs377635697 CA4270445	3	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	4	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4270441 rs761623899	5	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4270442 rs761623899	5	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA4270440 rs776330890	8	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779315870 CA4270437	9	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA367609961 rs1161887348	10	S>A		No	ClinGen gnomAD
rs141311286 CA367609942	13	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141311286 CA4270435	13	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1584631710 CA367609936	14	Q>*		No	ClinGen Ensembl
CA367609922 rs1175759870	16	F>I		No	ClinGen gnomAD
rs777874777 CA4270434	16	F>L		No	ClinGen ExAC gnomAD
rs756184535 CA4270433	17	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA367609902 rs1041542802 CA367609901	18	E>D		No	ClinGen TOPMed gnomAD
rs374228040 CA4270432	18	E>G		No	ClinGen ESP ExAC gnomAD
CA159022344 rs986374003	21	E>K		No	ClinGen Ensembl
CA367609857 rs1262468575	24	E>D		No	ClinGen TOPMed gnomAD
rs1216409394 CA367609838	27	G>A		No	ClinGen gnomAD
rs571114908 COSM3366983 CA4270395	30	V>I	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA367609802 rs1259636855	31	S>T		No	ClinGen gnomAD
rs140813887 CA4270394	32	S>N		No	ClinGen ESP ExAC TOPMed
rs369943156 CA159021688	32	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1400128731 CA367609785	34	V>L		No	ClinGen TOPMed
rs552608919 CA4270391	36	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs957497255 CA159021669	36	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs763247159 CA4270390	37	C>R		No	ClinGen ExAC TOPMed
rs773714411 CA159021648	38	I>S		No	ClinGen ExAC TOPMed
CA4270389 rs773714411	38	I>T		No	ClinGen ExAC TOPMed
CA367609733 rs573601674	42	T>K		No	ClinGen ExAC TOPMed gnomAD
CA4270387 rs573601674	42	T>M		No	ClinGen ExAC TOPMed gnomAD
CA367609717 rs1280122630	44	Q>H		No	ClinGen TOPMed
rs139265299 CA4270384	47	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA159021639 rs1012868660	47	A>V		No	ClinGen TOPMed
COSM20465 VAR_040994 rs368370244 CA4270382	48	V>M	large_intestine a colorectal adenocarcinoma sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1562880932 CA367609685	49	K>M		No	ClinGen Ensembl
rs1398939012 CA367609681	50	V>I		No	ClinGen gnomAD
CA4270380 rs374855407	52	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4270379 rs150831938	53	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs753691031 CA4270378	54	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4270375 rs200383111	55	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA4270376 rs141566748	55	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763340575 CA4270373	56	G>R		No	ClinGen ExAC gnomAD
CA4270369 rs768793774	61	P>A		No	ClinGen ExAC gnomAD
CA4270367 rs146121774	61	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768793774 CA4270368	61	P>S		No	ClinGen ExAC gnomAD
CA367609605 rs1337580984	62	E>G		No	ClinGen gnomAD
CA367609597 rs1584629461	63	E>G		No	ClinGen Ensembl
rs1584629454 CA367609588	64	V>G		No	ClinGen Ensembl
rs199647333 CA4270364	65	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	66	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367609578 rs1258562932	66	E>V		No	ClinGen TOPMed
COSM3382044 CA4270362 rs137913814	68	R>*	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA4270361 rs749309116	68	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA367609562 rs1199793792	69	E>D		No	ClinGen TOPMed
CA4270360 rs777517621	69	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1248564968 CA367609560	70	A>T		No	ClinGen TOPMed
rs755657137 CA367609551	71	T>K		No	ClinGen ExAC TOPMed gnomAD
rs755657137 CA4270359	71	T>M		No	ClinGen ExAC TOPMed gnomAD
rs201068835 CA159021568	73	K>E		No	ClinGen Ensembl
TCGA novel	74	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	75	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1584629384 CA367609524	75	V>G		No	ClinGen Ensembl
rs780846650 CA4270357	77	I>M		No	ClinGen ExAC gnomAD
rs754674836 CA4270356	79	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1451661 CA4270355 rs751207978	79	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs762024241 CA4270353	81	V>I		No	ClinGen ExAC gnomAD
rs1169039458 CA367609486	82	S>P		No	ClinGen TOPMed
CA4270352 rs754372415	83	G>E		No	ClinGen ExAC TOPMed gnomAD
rs865853158 CA159021543	84	H>P		No	ClinGen TOPMed
rs1263106883 CA367609474	84	H>Y		No	ClinGen gnomAD
rs764465673 CA4270351	85	P>S		No	ClinGen ExAC
rs1199242867 CA367609461	86	N>S		No	ClinGen TOPMed gnomAD
CA367609456 rs1353006685	87	I>V		No	ClinGen gnomAD
CA4270318 rs779776222	89	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA4270317 rs779776222	89	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA4270316 rs758032943	90	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4270315 rs149238442	91	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4270314 rs778062516	93	T>A		No	ClinGen ExAC gnomAD
CA4270313 rs756538374	93	T>I		No	ClinGen ExAC gnomAD
CA367609402 rs756538374	93	T>S		No	ClinGen ExAC gnomAD
CA4270312 rs749437917	94	Y>*		No	ClinGen ExAC gnomAD
TCGA novel	96	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4270311 rs138370834	98	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs562203433 CA4270310	100	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs755143171 CA4270309	102	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4270308 rs751546133	103	V>M		No	ClinGen ExAC gnomAD
rs201721760 CA4270307	104	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs201721760 CA4270306	104	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA367609031 CA159019177 rs959247521	107	M>I		No	ClinGen gnomAD
rs1359975408 CA367609033	107	M>R		No	ClinGen gnomAD
CA367609020 rs1426799657	109	R>K		No	ClinGen gnomAD
rs1386017002 CA367609012	110	G>E		No	ClinGen gnomAD
rs1232203140 CA367609013	110	G>R		No	ClinGen TOPMed
rs781720110 CA4270271	111	E>D		No	ClinGen ExAC TOPMed gnomAD
rs139633155 CA159019162	113	F>S		No	ClinGen 1000Genomes
CA159019157 rs780502081	114	D>N		No	ClinGen Ensembl
rs758726946 CA159019156	114	D>V		No	ClinGen Ensembl
CA367608979 rs769138362	115	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs769138362 CA4270270	115	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs769138362 CA367608980	115	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs747529096 CA4270269	117	T>A		No	ClinGen ExAC TOPMed gnomAD
CA367608965 rs1187036234	118	E>K		No	ClinGen gnomAD
CA367608956 rs111589508	119	K>*		No	ClinGen TOPMed gnomAD
rs111589508 CA159019122	119	K>Q		No	ClinGen TOPMed gnomAD
rs1200024521 CA367608936	122	L>*		No	ClinGen TOPMed
rs1260431238 CA367608932	122	L>F		No	ClinGen gnomAD
CA367608927 rs1178308673	123	S>T		No	ClinGen gnomAD
rs1456584561 CA367608900	126	E>D		No	ClinGen gnomAD
rs1248592797 CA367608891	128	R>K		No	ClinGen TOPMed gnomAD
CA367608856 rs1398089480	131	M>T		No	ClinGen gnomAD
rs373657174 CA4270248	132	R>*		No	ClinGen ESP ExAC TOPMed
CA159018868 rs373657174	132	R>G		No	ClinGen ESP ExAC TOPMed
CA4270247 COSM314131 rs746327103	132	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1250738848 CA367608809	139	C>Y		No	ClinGen gnomAD
CA4270241 rs752492125	140	T>A		No	ClinGen ExAC gnomAD
CA4270242 rs752492125	140	T>S		No	ClinGen ExAC gnomAD
TCGA novel rs1584622677 CA367608795	141	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
rs1256757429 CA367608791	142	H>Y		No	ClinGen gnomAD
rs1206111609 CA367608775	144	L>F		No	ClinGen gnomAD
rs1255499107 CA367608758	146	I>M		No	ClinGen TOPMed gnomAD
rs767197711 CA4270240	146	I>V		No	ClinGen ExAC gnomAD
rs911041281 CA159018839	147	V>M		No	ClinGen TOPMed gnomAD
rs757254297 CA4270238	148	H>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	148	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4270239 rs757254297	148	H>N		No	ClinGen ExAC TOPMed gnomAD
rs766046891 COSM1090962 CA4270237	149	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA367608746 rs1310237471	149	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1396549390 CA367608727	152	K>Q		No	ClinGen gnomAD
CA367608726 rs1401327813	152	K>T		No	ClinGen gnomAD
CA4270236 rs539584077	153	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA4270233 rs370010768	154	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs764892940 CA4270234	154	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1405111877 CA367608702	156	I>F		No	ClinGen Ensembl
TCGA novel	157	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4270232 rs775962676	160	D>G		No	ClinGen ExAC TOPMed gnomAD
CA4270230 rs375748758	161	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4270231 rs375748758	161	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367608664 rs1189975809	161	N>I		No	ClinGen gnomAD
CA4270229 rs774780130	162	M>R		No	ClinGen ExAC gnomAD
CA367608641 rs1256011900	164	I>T		No	ClinGen gnomAD
rs770999581 CA4270228	165	K>E		No	ClinGen ExAC gnomAD
rs113579109 CA159018795	166	L>F		No	ClinGen 1000Genomes gnomAD
CA159018798 rs113579109	166	L>V		No	ClinGen 1000Genomes gnomAD
CA367608621 rs1562878026	167	T>R		No	ClinGen Ensembl
rs1485272629 CA367608597	171	F>L		No	ClinGen TOPMed
CA367608593 rs1287096715	171	F>S		No	ClinGen gnomAD
CA367608567 rs1182632625	175	L>V		No	ClinGen TOPMed
CA4270226 rs187745069	177	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4270227 rs187745069	177	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1332084369 CA367608542	179	E>*		No	ClinGen gnomAD
TCGA novel	179	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781108246 CA367608529	181	L>M		No	ClinGen ExAC TOPMed gnomAD
CA367608526 rs1296982500	181	L>P		No	ClinGen gnomAD
rs754716352 CA4270222	182	R>*		No	ClinGen ExAC TOPMed gnomAD
rs751558671 CA4270221	182	R>Q		No	ClinGen ExAC gnomAD
rs768578172 CA4270204	184	V>I		No	ClinGen ExAC gnomAD
CA159018121 rs1049205825	185	C>R		No	ClinGen TOPMed
CA367608488 rs1216299537	186	G>A		No	ClinGen gnomAD
CA4270202 rs373763601	186	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4270201 rs758449839	188	P>L		No	ClinGen ExAC gnomAD
rs541582462 CA159018116	188	P>T		No	ClinGen 1000Genomes
CA367608473 rs1275135815	189	S>T		No	ClinGen gnomAD
rs1584619932 CA367608461	190	Y>*		No	ClinGen Ensembl
CA4270198 rs192764931	192	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4270199 rs192764931	192	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750381091 COSM1496679 CA4270200	192	A>T	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA367608450 rs1237766258	193	P>A		No	ClinGen TOPMed
rs147654051 CA4270196	194	E>K		No	ClinGen 1000Genomes ESP TOPMed
CA367608446 rs147654051	194	E>Q		No	ClinGen 1000Genomes ESP TOPMed
CA4270193 rs372681025	197	E>K		No	ClinGen ExAC gnomAD
CA367608425 rs372681025	197	E>Q		No	ClinGen ExAC gnomAD
CA159018095 rs868769445	200	M>T		No	ClinGen Ensembl
CA4270190 rs73126331	200	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs375996951 CA4270189	201	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA367608378 rs1584619802	203	D>G		No	ClinGen Ensembl
rs1477842509 CA367608368 CA367608367	204	H>Q		No	ClinGen TOPMed gnomAD
rs1245157298 CA367608361	205	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs376787464 CA4270188	206	G>A		No	ClinGen ESP ExAC gnomAD
TCGA novel	206	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	207	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373557654 CA4270187	207	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4270185 CA367608348 rs369323877	208	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4270184 rs375244738	210	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1370195548 CA367608316	212	D>E		No	ClinGen TOPMed
CA4270152 rs757769249 CA159018014	213	M>I		No	ClinGen ExAC TOPMed gnomAD
CA367608310 rs1449514032	213	M>T		No	ClinGen TOPMed gnomAD
rs375438215 CA4270151	214	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1487771766 CA367608287	215	S>G		No	ClinGen gnomAD
CA4270150 rs538193071	216	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs940268562 CA159018001	216	T>I		No	ClinGen TOPMed
CA4270149 rs760767064	217	G>D		No	ClinGen ExAC gnomAD
TCGA novel	217	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141344297 CA4270146	218	V>I		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs141344297 CA367608271	218	V>L		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs377310121 CA4270143	219	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1354043119 CA367608265	219	I>V		No	ClinGen TOPMed gnomAD
rs759785327 CA367608256	220	M>R		No	ClinGen ExAC TOPMed gnomAD
rs759785327 CA4270142	220	M>T		No	ClinGen ExAC TOPMed gnomAD
CA367608259 rs1419212757	220	M>V		No	ClinGen TOPMed
rs1206377809 CA367608246	221	Y>*		No	ClinGen Ensembl
CA4270141 rs774056941	222	T>M		No	ClinGen ExAC TOPMed gnomAD
CA159017906 rs375990959	226	G>S		No	ClinGen TOPMed gnomAD
rs551840444 CA4270138	228	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780847047 CA4270135	229	P>S		No	ClinGen ExAC TOPMed gnomAD
rs56053511 CA159017889	230	F>L		No	ClinGen Ensembl
CA367608192 rs1562876699	231	W>*		No	ClinGen Ensembl
CA4270133 rs746667766	232	H>L		No	ClinGen ExAC gnomAD
CA4270134 rs754624575	232	H>Y		No	ClinGen ExAC gnomAD
rs377598630 CA367608177	233	R>L		No	ClinGen ESP ExAC gnomAD
rs377598630 CA4270132	233	R>Q		No	ClinGen ESP ExAC gnomAD
rs1315681709 CA367608180	233	R>W		No	ClinGen TOPMed
CA367608142 rs1488571966	238	M>T		No	ClinGen gnomAD
rs754396196 CA4270130	243	M>I		No	ClinGen ExAC TOPMed gnomAD
CA367608107 rs757583640	243	M>K		No	ClinGen ExAC gnomAD
rs757583640 CA4270131	243	M>R		No	ClinGen ExAC gnomAD
rs757583640 CA367608106	243	M>T		No	ClinGen ExAC gnomAD
CA159017883 rs372823387	243	M>V		No	ClinGen TOPMed gnomAD
rs778380422 CA4270129	244	S>C		No	ClinGen ExAC gnomAD
rs746142464 CA159017872	244	S>N		No	ClinGen Ensembl
CA159017859 rs756281200	244	S>R		No	ClinGen ExAC TOPMed gnomAD
rs147684619 CA4270127	245	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs142859782 CA4270126	248	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA367608066 rs1173007645	249	F>Y		No	ClinGen gnomAD
rs759747023 CA367608052 COSM1451660	251	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs759747023 CA4270125	251	S>W		No	ClinGen ExAC gnomAD
rs773165951 CA4270121	253	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4270120 rs375001435	253	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA367608036 rs1420860720	254	W>*		No	ClinGen gnomAD
rs1584618824 CA367608037	254	W>G		No	ClinGen Ensembl
CA367608027 rs1584618789	255	D>G		No	ClinGen Ensembl
rs1177526183 CA367608028	255	D>Y		No	ClinGen gnomAD
CA159017830 rs1024192978	256	D>N		No	ClinGen TOPMed
rs148542905 CA4270116	258	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4270114 rs779686431	259	D>V		No	ClinGen ExAC gnomAD
rs149784104 CA4270112	261	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4270109 rs200728838	263	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1300811735 CA367607968	264	L>V		No	ClinGen TOPMed gnomAD
CA4270077 rs779977158	265	V>D		No	ClinGen ExAC gnomAD
CA4270075 rs759279805	266	S>F		No	ClinGen ExAC TOPMed gnomAD
CA4270074 rs765029179	267	R>*		No	ClinGen ExAC TOPMed gnomAD
rs756979048 CA4270073	267	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753750195 CA4270072	269	L>P		No	ClinGen ExAC gnomAD
CA159017656 rs199932685	271	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4270071 rs199932685	271	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4270069 rs775103638	273	P>L		No	ClinGen ExAC gnomAD
rs767133278 CA4270068	274	Q>R		No	ClinGen ExAC gnomAD
rs1401246822 CA367607866	275	N>K		No	ClinGen gnomAD
rs545839626 CA4270067	276	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	276	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA159017636 rs751430603	276	R>L		No	ClinGen Ensembl
CA4270066 rs12538444	277	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748484121 CA367607849	278	T>K		No	ClinGen ExAC gnomAD
CA4270064 rs748484121	278	T>R		No	ClinGen ExAC gnomAD
CA4270062 rs144361738	279	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs991383854 CA367607841	280	E>*		No	ClinGen TOPMed
CA367607839 rs1276659011	280	E>G		No	ClinGen TOPMed
rs991383854 CA159017603	280	E>Q		No	ClinGen TOPMed
rs758414312 CA4270059	281	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1478827561 CA367607834	281	E>Q		No	ClinGen gnomAD
rs1192725633 CA367607823	282	A>G		No	ClinGen TOPMed gnomAD
rs779067448 CA4270057	285	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs201883624 CA4270056	286	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4270055 rs201883624	286	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs139718491 CA159017565	288	F>L		No	ClinGen ESP gnomAD
CA4270054 rs763763410	292	L>V		No	ClinGen ExAC gnomAD
CA367607752 rs1213424199	293	V>M		No	ClinGen TOPMed
rs371768926 CA4270052	295	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs961824226 CA159017557	295	E>A		No	ClinGen TOPMed
CA159017551 rs1014594114	295	E>D		No	ClinGen TOPMed
rs1471857825 CA367607733	296	V>M		No	ClinGen TOPMed
CA4270050 rs141196426	297	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4270051 COSM1220412 rs767151786	297	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs774182485 CA4270049	300	S>G		No	ClinGen ExAC gnomAD
rs762492215 CA4270046	302	R>Q		No	ClinGen ExAC TOPMed
rs201025938 CA4270048	302	R>W		No	ClinGen ExAC TOPMed gnomAD
rs890097585 CA159017515 CA367607692	303	G>R		No	ClinGen TOPMed
CA4270045 rs768900651	304	K>N		No	ClinGen ExAC TOPMed gnomAD
CA367607683 rs1163392255	304	K>R		No	ClinGen gnomAD
CA4270043 rs575074725	306	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs368535896 CA367607641	308	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs148231327 CA4270020	309	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1090959 CA367607639 rs148231327	309	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4270018 rs201221003	312	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747903197 CA4270017	313	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4270016 rs781116962	315	S>L		No	ClinGen ExAC gnomAD
CA367607601 rs1562875685	316	V>E		No	ClinGen Ensembl
rs199541903 CA4270013	317	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199541903 CA4270012	317	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4270014 rs751540733	317	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4270011 rs750119696	318	I>S		No	ClinGen ExAC TOPMed gnomAD
rs764743460 CA4270010	320	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA367607579 rs764743460	320	Y>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	322	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367607564 rs1584616539	322	Y>S		No	ClinGen Ensembl
VAR_040995 CA4270008 rs149458708	323	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371433601 CA4270007	323	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA367607556 rs371433601	323	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4270005 rs138170417	324	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4270006 rs534256515	324	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773505491 CA4270002	326	K>N		No	ClinGen ExAC gnomAD
rs566122392 CA4270001	327	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1317892595 CA367607523	329	T>I		No	ClinGen gnomAD
rs147014225 CA4269998	330	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4269999 rs776637838	330	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1414225480 CA367607516	331	E>G		No	ClinGen gnomAD
CA4269997 rs141468325	331	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368804267 CA4269995	332	I>M		No	ClinGen ExAC TOPMed gnomAD
CA4269996 rs779813404	332	I>T		No	ClinGen ExAC gnomAD
rs753474163 CA4269991	333	V>F		No	ClinGen ExAC TOPMed gnomAD
CA4269992 rs753474163	333	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4269989 rs767879469	334	I>T		No	ClinGen ExAC gnomAD
rs1562875550 CA367607502	334	I>V		No	ClinGen Ensembl
CA4269988 rs368652644	335	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1407042813 CA367607495	335	R>Q		No	ClinGen TOPMed gnomAD
rs375616345 CA159017180	338	Y>C		No	ClinGen ESP TOPMed gnomAD
rs1473920730 CA367607466	340	L>F		No	ClinGen gnomAD
rs763494578 CA4269984	341	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs377647499 CA4269985	341	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs773209917 CA4269983	343	L>P		No	ClinGen ExAC TOPMed gnomAD
rs765359269 CA4269982	344	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1584616279 CA367607445	344	R>H		No	ClinGen Ensembl
rs373447305 CA159017163	345	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4269980 rs373447305	345	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs200414353 CA4269981	345	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1375360911 CA367607438	346	L>F		No	ClinGen TOPMed
rs1446764109 CA367607435	346	L>R		No	ClinGen TOPMed
CA4269978 rs768600789	348	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4269975 rs758309865	349	A>D		No	ClinGen ExAC gnomAD
CA4269976 rs775329257	349	A>T		No	ClinGen ExAC TOPMed gnomAD
rs758309865 CA159017154	349	A>V		No	ClinGen ExAC gnomAD
rs753717343 CA4269971	350	Y>*		No	ClinGen ExAC
CA4269973 rs778344494	350	Y>C		No	ClinGen ExAC gnomAD
CA4269970 rs200148808	351	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4269968 rs755358755	352	F>S		No	ClinGen ExAC gnomAD
CA367607397 rs1425155184	353	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA367607396 rs182098876	353	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4269967 rs182098876	353	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs758898342 CA4269965	357	H>P		No	ClinGen ExAC gnomAD
rs1185186306 CA367607362	358	W>*		No	ClinGen gnomAD
rs967624230 CA159017123	358	W>C		No	ClinGen TOPMed gnomAD
CA4269963 rs765248481	359	V>A		No	ClinGen ExAC gnomAD
CA367607356 rs765248481	359	V>G		No	ClinGen ExAC gnomAD
CA4269964 rs750931824	359	V>M		No	ClinGen ExAC gnomAD
rs764456478 CA367607349 CA4269961	360	K>N		No	ClinGen ExAC TOPMed gnomAD
CA4269962 rs761942701	360	K>R		No	ClinGen ExAC
rs1562875302 CA367607336	362	G>E		No	ClinGen Ensembl
CA4269957 rs771887282	363	Q>*		No	ClinGen ExAC gnomAD
CA4269956 rs759404219	364	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA367607311 rs1220800837	366	N>D		No	ClinGen gnomAD
rs372047445 CA4269954	367	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4269955 rs774276446	367	R>W		No	ClinGen ExAC gnomAD
CA4269953 rs748748925	368	A>E		No	ClinGen ExAC gnomAD
CA4269951 rs769476293	372	E>K		No	ClinGen ExAC TOPMed gnomAD
CA367607268 rs1475433183	373	N>D		No	ClinGen Ensembl
CA4269950 rs55793118	373	N>K		No	ClinGen ExAC gnomAD
rs1371056587 CA367607243	376	K>N		No	ClinGen gnomAD
CA4269948 rs375841179 COSM1451658	378	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4269947 rs151274553	379	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779509806 CA4269946	381	S>T		No	ClinGen ExAC gnomAD
rs141230469 CA367607203	384	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141230469 CA4269944	384	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4269942 rs760862823	386	D>E		No	ClinGen ExAC gnomAD
CA4269943 rs764260559	386	D>H		No	ClinGen ExAC TOPMed gnomAD
CA367607182 rs1209849872	387	Y>H		No	ClinGen TOPMed
rs1584615718 CA367607169	388	Y>W		No	ClinGen Ensembl

No associated diseases with Q16816

3 regional properties for Q16816

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	20 - 288	IPR000719
active_site	Serine/threonine-protein kinase, active site	146 - 158	IPR008271
binding_site	Protein kinase, ATP binding site	26 - 49	IPR017441

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
phosphorylase kinase complex	An enzyme complex that catalyzes the phosphorylation of phosphorylase b to form phosphorylase a.

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.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
phosphorylase kinase activity	Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
tau-protein kinase activity	Catalysis of the reaction: ATP + tau-protein = ADP + O-phospho-tau-protein.

3 GO annotations of biological process

Name	Definition
carbohydrate metabolic process	The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.
glycogen biosynthetic process	The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues.
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
Q2KJ16	PHKG2	Phosphorylase b kinase gamma catalytic chain, liver/testis isoform	Bos taurus (Bovine)	PR
P15735	PHKG2	Phosphorylase b kinase gamma catalytic chain, liver/testis isoform	Homo sapiens (Human)	PR
Q13554	CAMK2B	Calcium/calmodulin-dependent protein kinase type II subunit beta	Homo sapiens (Human)	EV
Q9UQM7	CAMK2A	Calcium/calmodulin-dependent protein kinase type II subunit alpha	Homo sapiens (Human)	EV
Q13555	CAMK2G	Calcium/calmodulin-dependent protein kinase type II subunit gamma	Homo sapiens (Human)	EV
Q13557	CAMK2D	Calcium/calmodulin-dependent protein kinase type II subunit delta	Homo sapiens (Human)	EV
Q9H1R3	MYLK2	Myosin light chain kinase 2, skeletal/cardiac muscle	Homo sapiens (Human)	EV
Q32MK0	MYLK3	Myosin light chain kinase 3	Homo sapiens (Human)	SS
Q86YV6	MYLK4	Myosin light chain kinase family member 4	Homo sapiens (Human)	SS
P11801	PSKH1	Serine/threonine-protein kinase H1	Homo sapiens (Human)	SS
Q6P2M8	PNCK	Calcium/calmodulin-dependent protein kinase type 1B	Homo sapiens (Human)	SS
Q96NX5	CAMK1G	Calcium/calmodulin-dependent protein kinase type 1G	Homo sapiens (Human)	SS
Q8IU85	CAMK1D	Calcium/calmodulin-dependent protein kinase type 1D	Homo sapiens (Human)	SS
Q8NCB2	CAMKV	CaM kinase-like vesicle-associated protein	Homo sapiens (Human)	SS
Q14012	CAMK1	Calcium/calmodulin-dependent protein kinase type 1	Homo sapiens (Human)	EV
Q9DB30	Phkg2	Phosphorylase b kinase gamma catalytic chain, liver/testis isoform	Mus musculus (Mouse)	PR
P07934	Phkg1	Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform	Mus musculus (Mouse)	SS
P31325	Phkg2	Phosphorylase b kinase gamma catalytic chain, liver/testis isoform	Rattus norvegicus (Rat)	PR
P13286	Phkg1	Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MTRDEALPDS	HSAQDFYENY	EPKEILGRGV	SSVVRRCIHK	PTSQEYAVKV	IDVTGGGSFS
70	80	90	100	110	120
PEEVRELREA	TLKEVDILRK	VSGHPNIIQL	KDTYETNTFF	FLVFDLMKRG	ELFDYLTEKV
130	140	150	160	170	180
TLSEKETRKI	MRALLEVICT	LHKLNIVHRD	LKPENILLDD	NMNIKLTDFG	FSCQLEPGER
190	200	210	220	230	240
LREVCGTPSY	LAPEIIECSM	NEDHPGYGKE	VDMWSTGVIM	YTLLAGSPPF	WHRKQMLMLR
250	260	270	280	290	300
MIMSGNYQFG	SPEWDDYSDT	VKDLVSRFLV	VQPQNRYTAE	EALAHPFFQQ	YLVEEVRHFS
310	320	330	340	350	360
PRGKFKVIAL	TVLASVRIYY	QYRRVKPVTR	EIVIRDPYAL	RPLRRLIDAY	AFRIYGHWVK
370	380
KGQQQNRAAL	FENTPKAVLL	SLAEEDY