AiPD: Autoinhibited Protein Database

P12277

Gene name	CKB
Protein name	Creatine kinase B-type
Names	Brain creatine kinase, B-CK, Creatine kinase B chain, Creatine phosphokinase B-type, CPK-B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1152
EC number	2.7.3.2: Phosphotransferases with a nitrogenous group as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-43 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-43 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

7 structures for P12277

Entry ID	Method	Resolution	Chain	Position	Source
3B6R	X-ray	200 A	A/B	1-381	PDB
3DRB	X-ray	200 A	A/B	1-381	PDB
3DRE	X-ray	220 A	A/B	1-381	PDB
6V9H	EM	410 A	A/B	1-381	PDB
7BF1	X-ray	124 A	CCC/DDD	301-318	PDB
7TUN	X-ray	293 A	A/B	1-381	PDB
AF-P12277-F1	Predicted				AlphaFoldDB

280 variants for P12277

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA391114951 rs1449648424	2	P>L		No	ClinGen gnomAD
rs1214347980 CA391114956	2	P>S		No	ClinGen TOPMed
rs1252407628 CA391114937	4	S>F		No	ClinGen gnomAD
CA391114932 rs1595996540	5	N>S		No	ClinGen Ensembl
rs146055152 CA7364742	6	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA391114924 rs146055152	6	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA267242245 rs142728438	7	H>Q		No	ClinGen ESP TOPMed gnomAD
rs200381467 CA7364741	9	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561373336 CA7364739	10	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA267242227 rs550707844	13	R>C		No	ClinGen 1000Genomes
TCGA novel rs1595996509 CA391114882	13	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs550707844 CA391114884	13	R>S		No	ClinGen 1000Genomes
CA7364737 rs748772002	15	P>A		No	ClinGen ExAC gnomAD
rs780501259 CA7364736	15	P>R		No	ClinGen ExAC TOPMed gnomAD
CA391114870 rs748772002	15	P>S		No	ClinGen ExAC gnomAD
rs1376209091 CA391114864	16	A>G		No	ClinGen TOPMed gnomAD
rs746431018 CA7364734	16	A>S		No	ClinGen ExAC gnomAD
rs1359386259 CA391114861	17	E>Q		No	ClinGen TOPMed
rs1595996483 CA391114848	18	D>E		No	ClinGen Ensembl
rs781531300 CA7364733	18	D>H		No	ClinGen ExAC gnomAD
rs751779210 CA7364731	19	E>A		No	ClinGen ExAC
CA391114845 rs751779210	19	E>G		No	ClinGen ExAC
CA391114847 rs757601698	19	E>K		No	ClinGen ExAC gnomAD
rs757601698 CA7364732	19	E>Q		No	ClinGen ExAC gnomAD
rs11545347 CA267242183	22	D>N		No	ClinGen ExAC TOPMed gnomAD
rs11545347 CA7364729	22	D>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	24	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760679313 CA391114808	24	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1198321364 CA391114805	25	A>D		No	ClinGen gnomAD
CA7364725 rs773350958	25	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768916642 CA391114796	26	H>Q		No	ClinGen TOPMed
rs11545352 CA7364724	26	H>Y		No	ClinGen ExAC gnomAD
rs1308487431 CA391114772	29	H>Q		No	ClinGen TOPMed
CA267242139 rs79794690	30	M>I		No	ClinGen Ensembl
rs761566306 CA7364723	30	M>K		No	ClinGen ExAC gnomAD
CA7364721 rs768226434	35	T>N		No	ClinGen ExAC gnomAD
CA267242120 rs11545350	36	P>T		No	ClinGen Ensembl
rs769357525 CA7364718	37	E>D		No	ClinGen ExAC TOPMed gnomAD
CA7364717 rs565251206	38	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA391114721 rs1189898311	38	L>Q		No	ClinGen gnomAD
CA391114705 rs1255337931	40	A>V		No	ClinGen TOPMed
rs2984134 CA267242089	41	E>D		No	ClinGen gnomAD
CA391114700 rs1236340187	41	E>G		No	ClinGen gnomAD
CA267242083 rs1003985388	42	L>V		No	ClinGen Ensembl
rs1448275362 CA391114690	43	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA391114684 rs1595996368	44	A>D		No	ClinGen Ensembl
CA391114677 rs1178366814	45	K>R		No	ClinGen TOPMed
TCGA novel	47	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391114659 rs1334781325	48	P>T		No	ClinGen gnomAD
CA391114639 rs1328832296	51	F>L		No	ClinGen gnomAD
CA391114605 rs1235631392	55	D>E		No	ClinGen TOPMed gnomAD
rs1404453112 CA391114589	58	Q>*		No	ClinGen TOPMed
CA267242064 rs11545344	59	T>I		No	ClinGen Ensembl
rs1445887878 CA391114572	61	V>M		No	ClinGen gnomAD
CA391114559 rs1029369251	62	D>E		No	ClinGen TOPMed gnomAD
rs1319224421 CA391114565	62	D>H		No	ClinGen gnomAD
CA7364711 rs753028378	63	N>T		No	ClinGen ExAC gnomAD
rs755149253 CA7364709	64	P>A		No	ClinGen ExAC TOPMed gnomAD
CA391114547 rs1412949335	64	P>L		No	ClinGen TOPMed gnomAD
rs11545348 CA7364667	67	P>L		No	ClinGen ExAC gnomAD
rs11545348 CA267241837	67	P>Q		No	ClinGen ExAC gnomAD
rs11545348 CA7364668	67	P>R		No	ClinGen ExAC gnomAD
CA391114458 rs1276825868	70	M>I		No	ClinGen gnomAD
rs1595996116 CA391114437	72	V>A		No	ClinGen Ensembl
rs1350946529 CA391114425	74	C>S		No	ClinGen gnomAD
rs1350946529 CA391114426	74	C>Y		No	ClinGen gnomAD
CA391114409 rs1566963046	77	G>S		No	ClinGen Ensembl
CA267241813 rs866930244	79	E>D		No	ClinGen Ensembl
rs1356751470 CA391114381	80	E>D		No	ClinGen gnomAD
rs1465199569 CA391114364	82	Y>C		No	ClinGen gnomAD
rs150838024 CA267241805	83	E>K		No	ClinGen ESP TOPMed gnomAD
rs1211175091 CA391114329	87	D>Y		No	ClinGen gnomAD
CA391114322 rs1413166774	88	L>V		No	ClinGen gnomAD
rs764811563 CA7364662	90	D>Y		No	ClinGen ExAC gnomAD
rs759173877 CA7364661	91	P>R		No	ClinGen ExAC
rs1182488004 CA391114300	91	P>S		No	ClinGen gnomAD
rs753594980 CA7364660	96	R>P		No	ClinGen ExAC gnomAD
CA391114266 rs1349321937	96	R>W		No	ClinGen TOPMed
rs1213631569 CA391114259	97	H>R		No	ClinGen TOPMed
CA7364659 rs765777350	98	G>R		No	ClinGen ExAC gnomAD
rs201438967 CA267241764	99	G>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs760282282 CA7364658	99	G>V		No	ClinGen ExAC TOPMed gnomAD
CA391114242 rs1226447980	100	Y>S		No	ClinGen gnomAD
CA7364657 rs773543686	102	P>T		No	ClinGen ExAC gnomAD
CA7364656 rs768105100	103	S>G		No	ClinGen ExAC gnomAD
rs1262019287 CA391114223	103	S>N		No	ClinGen TOPMed
rs1376423777 CA391114220	103	S>R		No	ClinGen TOPMed gnomAD
CA391114195 rs1290197378	106	H>Q		No	ClinGen gnomAD
rs1595996014 CA391114192	107	K>E		No	ClinGen Ensembl
rs1595996010 CA391114183	108	T>N		No	ClinGen Ensembl
rs962382555 CA267241747	109	D>N		No	ClinGen Ensembl
rs866088837 CA267241745	111	N>D		No	ClinGen Ensembl
rs1435375156 CA391114163	111	N>S		No	ClinGen gnomAD
rs1435375156 CA391114164	111	N>T		No	ClinGen gnomAD
CA391114152 rs1370684683	113	D>G		No	ClinGen gnomAD
CA267241741 rs868788316	113	D>N		No	ClinGen gnomAD
CA391114144 rs1595995987	114	N>T		No	ClinGen Ensembl
rs539211313 CA267241696	118	G>D		No	ClinGen 1000Genomes TOPMed gnomAD
CA7364638 rs766078386	119	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7364637 rs755543590	120	D>Y		No	ClinGen ExAC gnomAD
CA391114085 rs1333131050	121	L>P		No	ClinGen gnomAD
CA391114071 rs1365594647	123	P>L		No	ClinGen TOPMed
rs1302443642 CA391114074	123	P>S		No	ClinGen gnomAD
rs768082163 CA7364635	124	N>D		No	ClinGen ExAC gnomAD
rs762398805 CA7364634	124	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7364632 rs747114408	128	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1467790706 CA391113993	132	R>H		No	ClinGen gnomAD
rs1329657975 CA391113969	134	G>A		No	ClinGen TOPMed
CA391113956 rs1377949010	135	R>L		No	ClinGen gnomAD
CA391113946 rs1431276247	136	S>T		No	ClinGen gnomAD
CA391113936 rs1376811219	137	I>L		No	ClinGen TOPMed
CA391113923 rs1253866890	138	R>C		No	ClinGen TOPMed gnomAD
CA267241664 rs11545349	138	R>H		No	ClinGen Ensembl
CA391113919 rs1253866890	138	R>S		No	ClinGen TOPMed gnomAD
rs1555409500 CA391113905	139	G>D		No	ClinGen Ensembl
CA7364630 rs775530141	141	C>F		No	ClinGen ExAC gnomAD
CA391113864 rs1482404800	142	L>P		No	ClinGen gnomAD
CA391113854 rs1212516051	143	P>S		No	ClinGen TOPMed gnomAD
rs1318172268 CA391113844	144	P>A		No	ClinGen TOPMed
CA391113838 rs1345323480	144	P>Q		No	ClinGen gnomAD
CA391113779 rs1329773430	149	G>R		No	ClinGen gnomAD
rs1290677875 CA391113764	150	E>G		No	ClinGen gnomAD
CA391113754 rs1410982750	151	R>C		No	ClinGen gnomAD
rs1349890152 CA391113752	151	R>H		No	ClinGen gnomAD
rs1306293890 CA391113740	152	R>H		No	ClinGen gnomAD
CA391113739 rs1306293890	152	R>L		No	ClinGen gnomAD
rs1403152881 CA391113737	153	A>S		No	ClinGen gnomAD
CA391113732 rs1172270960	153	A>V		No	ClinGen gnomAD
rs1159742495 CA391113725	154	I>M		No	ClinGen TOPMed gnomAD
CA391113727 rs1413912329	154	I>T		No	ClinGen gnomAD
rs771062991 CA391113718	155	E>D		No	ClinGen ExAC TOPMed gnomAD
CA7364626 rs776758171	155	E>K		No	ClinGen ExAC
CA267241641 rs906061787	156	K>E		No	ClinGen TOPMed gnomAD
CA391113692 rs1595995741	160	E>K		No	ClinGen Ensembl
TCGA novel	161	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1357073494 CA391113667	161	A>V		No	ClinGen gnomAD
rs1595995402 CA391113651	164	S>N		No	ClinGen Ensembl
rs1324858369 CA391113642	166	D>N		No	ClinGen TOPMed
rs200266751 CA7364602	167	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200266751 CA391113633	167	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1298678380 CA391113627	168	D>Y		No	ClinGen gnomAD
CA7364599 rs769546303	170	A>E		No	ClinGen ExAC TOPMed gnomAD
rs769546303 CA7364600	170	A>V		No	ClinGen ExAC TOPMed gnomAD
rs745508721 CA391113606	172	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1389333856 CA391113603	172	R>P		No	ClinGen gnomAD
CA391113592 rs1160915101	174	Y>H		No	ClinGen TOPMed gnomAD
rs781011154 CA7364597	175	A>P		No	ClinGen ExAC TOPMed gnomAD
CA267241326 rs1047304467	175	A>V		No	ClinGen Ensembl
CA7364594 rs778366070	177	K>E		No	ClinGen ExAC gnomAD
rs36002620 VAR_025838 CA7364593	177	K>R		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA7364591 rs765604703	179	M>V		No	ClinGen ExAC gnomAD
CA391113548 rs1595995342	180	T>M		No	ClinGen Ensembl
TCGA novel	182	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1037618915 CA267241304	183	E>G		No	ClinGen TOPMed gnomAD
rs1041105054 RCV000766146 CA267241301	189	D>H		No	ClinGen ClinVar TOPMed dbSNP
rs754012287 CA7364589	190	D>N		No	ClinGen ExAC gnomAD
rs1349161295 CA391113445	195	D>N		No	ClinGen TOPMed
CA391113421 rs1436976878	198	V>L		No	ClinGen gnomAD
CA7364587 rs760682236	200	P>L		No	ClinGen ExAC gnomAD
rs1566962620 CA391113409	200	P>S		No	ClinGen Ensembl
rs1595995274 CA391113395	203	L>M		No	ClinGen Ensembl
CA391113375 rs1167509891	206	G>D		No	ClinGen gnomAD
rs745686895 CA7364581	207	M>K		No	ClinGen ExAC gnomAD
CA7364582 rs769578998	207	M>V		No	ClinGen ExAC gnomAD
CA391113362 rs1193254971	208	A>V		No	ClinGen gnomAD
rs1478591376 CA391113360	209	R>C		No	ClinGen gnomAD
TCGA novel	211	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7364578 rs770716903	213	D>N		No	ClinGen ExAC gnomAD
rs1484040781 CA391113320	214	A>G		No	ClinGen TOPMed gnomAD
rs1484040781 CA391113319	214	A>V		No	ClinGen TOPMed gnomAD
CA391113312 rs1275465747	216	G>S		No	ClinGen gnomAD
rs1305950574 CA391113301	217	I>M		No	ClinGen gnomAD
CA7364577 rs746716173	217	I>N		No	ClinGen ExAC gnomAD
CA267240572 rs201488531	223	K>E		No	ClinGen 1000Genomes
CA391112756 rs1264798178	227	V>A		No	ClinGen TOPMed
CA267240566 rs887679511	229	V>I		No	ClinGen Ensembl
rs199734997 CA391112733	230	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757404572 CA7364524	234	H>Q		No	ClinGen ExAC gnomAD
CA7364523 rs528121888	235	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391112663 rs1489604594	236	R>Q		No	ClinGen TOPMed gnomAD
CA7364521 rs758597982	237	V>F		No	ClinGen ExAC TOPMed gnomAD
rs758597982 CA391112654	237	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7364518 CA7364520 rs373038236	242	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs559489078 CA7364517	243	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391112551 rs1225685414	244	G>D		No	ClinGen gnomAD
CA391112555 rs1369611566	244	G>S		No	ClinGen TOPMed
CA391112500 rs148243589	247	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
CA267240502 TCGA novel rs369370975	248	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
rs761370221 CA7364515	249	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1302508883 CA391112488	249	V>M		No	ClinGen gnomAD
CA7364512 rs377598922	252	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7364511 rs762475613	252	R>H		No	ClinGen ExAC TOPMed gnomAD
CA391112437 rs1166437016	254	C>R		No	ClinGen gnomAD
rs1351888307 CA391112412	255	T>I		No	ClinGen TOPMed
rs1351888307 CA391112414	255	T>N		No	ClinGen TOPMed
rs770294318 CA7364509	256	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1322309456 CA391112394	257	L>V		No	ClinGen TOPMed
CA391112378 rs1246863669	258	T>I		No	ClinGen TOPMed
rs773732529 CA267240303	260	I>T		No	ClinGen Ensembl
CA391112253 rs1321077682	263	L>P		No	ClinGen TOPMed gnomAD
CA7364488 rs747430687	266	S>C		No	ClinGen ExAC TOPMed gnomAD
rs13558 CA267240256	267	K>E		No	ClinGen Ensembl
CA7364487 rs773502349	267	K>N		No	ClinGen ExAC gnomAD
CA267240252 rs770230629	268	D>H		No	ClinGen TOPMed gnomAD
rs770230629 CA391112223	268	D>Y		No	ClinGen TOPMed gnomAD
CA7364485 rs146047573	269	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7364486 rs772436966	269	Y>D		No	ClinGen ExAC gnomAD
CA391112206 rs1446897133	270	E>D		No	ClinGen gnomAD
rs369930382 CA7364484	270	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	270	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391112168 rs1211702548	275	P>S		No	ClinGen gnomAD
CA267240204 rs200360815	278	G>D		No	ClinGen 1000Genomes
rs1465776046 CA391112083	288	G>D		No	ClinGen TOPMed
rs1367035745 CA391112061	292	R>Q		No	ClinGen gnomAD
rs751365302 CA7364479	294	G>A		No	ClinGen ExAC gnomAD
rs751365302 CA391112049	294	G>D		No	ClinGen ExAC gnomAD
CA391112038 rs758039698	296	H>P		No	ClinGen ExAC gnomAD
CA7364477 rs758039698	296	H>R		No	ClinGen ExAC gnomAD
CA391112023 rs1566962044	298	K>T		No	ClinGen Ensembl
rs764629320 CA7364475	300	P>L		No	ClinGen ExAC gnomAD
rs1595994424 CA391112009	301	N>H		No	ClinGen Ensembl
CA391111993 rs1475325487	303	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1240861334 CA391111989	304	K>E		No	ClinGen gnomAD
rs759106818 CA7364474	306	E>D		No	ClinGen ExAC gnomAD
CA391111958 rs1490518043	308	F>L		No	ClinGen gnomAD
rs35156510 CA7364473 VAR_025839	309	S>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1344550933 CA391111944	310	E>K		No	ClinGen gnomAD
CA7364471 rs372483120	311	V>M		No	ClinGen ESP ExAC
CA267240148 rs762172752	312	L>F		No	ClinGen Ensembl
TCGA novel	316	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	316	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391111897 rs1405504692	318	Q>*		No	ClinGen gnomAD
CA391111884 rs1156749440	319	K>N		No	ClinGen TOPMed
CA391111881 rs1566961991	320	R>Q		No	ClinGen Ensembl
CA7364466 rs558060738	322	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA7364446 rs763138832	326	D>E		No	ClinGen ExAC gnomAD
rs775631500 CA7364445	327	T>A		No	ClinGen ExAC gnomAD
CA391111830 rs769802932	327	T>K		No	ClinGen ExAC gnomAD
CA391111829 rs769802932	327	T>M		No	ClinGen ExAC gnomAD
rs769802932 CA7364444	327	T>R		No	ClinGen ExAC gnomAD
rs373723994 CA7364441	328	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs932800993 CA267239993	329	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7364440 rs747941570	331	G>D		No	ClinGen ExAC TOPMed gnomAD
rs754646078 CA7364438	332	G>E		No	ClinGen ExAC gnomAD
CA391111797 rs1595994265	333	V>G		No	ClinGen Ensembl
CA267239968 rs1803284	334	F>L		No	ClinGen Ensembl
CA267239963 rs570136611	335	D>G		No	ClinGen 1000Genomes
rs1380864359 CA391111788	335	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA391111782 rs1453838176	336	V>I		No	ClinGen gnomAD
TCGA novel	338	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391111730 rs1472804757	344	F>L		No	ClinGen TOPMed
rs915821296 CA267239916	347	V>M		No	ClinGen TOPMed gnomAD
rs750914370 CA7364434	348	E>K		No	ClinGen ExAC TOPMed gnomAD
CA391111696 rs1184445277	349	L>V		No	ClinGen TOPMed gnomAD
CA391111669 rs751936373	353	V>L		No	ClinGen ExAC gnomAD
CA7364431 rs751936373	353	V>M		No	ClinGen ExAC gnomAD
CA7364430 rs764428919	354	V>G		No	ClinGen ExAC gnomAD
CA7364429 rs763200594	357	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7364427 rs372783149	359	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA267239894 rs372783149	359	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs12505 CA267239887 VAR_049674	360	L>F		No	ClinGen UniProt Ensembl dbSNP
rs748141906 CA391111619	361	I>M		No	ClinGen ExAC gnomAD
CA7364424 rs145462676	361	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA391111618 rs778765991	362	E>K		No	ClinGen ExAC TOPMed gnomAD
rs778765991 CA7364422	362	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA391111596 rs1803283	364	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1367544661 CA391111583	366	R>L		No	ClinGen gnomAD
rs1428642510 CA391111585	366	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7364420 rs748950650	368	E>G		No	ClinGen ExAC gnomAD
rs1383661662 CA391111557	370	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1170231114 CA391111553	371	Q>*		No	ClinGen gnomAD
rs1428964335 CA391111551	371	Q>R		No	ClinGen gnomAD
CA7364418 rs755648107	372	A>V		No	ClinGen ExAC TOPMed gnomAD
rs528084620 CA391111528	374	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1269010010 CA391111526	375	D>N		No	ClinGen gnomAD
CA391111507 rs1555409289	377	M>I		No	ClinGen Ensembl
CA391111513 rs1415799658	377	M>L		No	ClinGen TOPMed
rs1276355517 CA391111508	377	M>T		No	ClinGen gnomAD
TCGA novel	379	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757830155 CA7364415	381	K>E		No	ClinGen ExAC gnomAD

No associated diseases with P12277

3 regional properties for P12277

Type	Name	Position	InterPro Accession
domain	ATP:guanido phosphotransferase, N-terminal	11 - 98	IPR022413
domain	ATP:guanido phosphotransferase, catalytic domain	125 - 367	IPR022414
active_site	ATP:guanido phosphotransferase active site	283 - 289	IPR022415

Functions

		Description
EC Number	2.7.3.2	Phosphotransferases with a nitrogenous group as acceptor
Subcellular Localization	Cytoplasm, cytosol Mitochondrion Cell membrane	Localizes to the mitochondria of thermogenic fat cells via the internal MTS-like signal (iMTS-L) region
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 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.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
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.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
creatine kinase activity	Catalysis of the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
kinase activity	Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

5 GO annotations of biological process

Name	Definition
cellular chloride ion homeostasis	Any process involved in the maintenance of an internal steady state of chloride ions at the level of a cell.
cerebellum development	The process whose specific outcome is the progression of the cerebellum over time, from its formation to the mature structure. The cerebellum is the portion of the brain in the back of the head between the cerebrum and the pons. In mice, the cerebellum controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills.
phosphocreatine biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphocreatine, a phosphagen of creatine which is synthesized and broken down by creatine phosphokinase.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
substantia nigra development	The progression of the substantia nigra over time from its initial formation until its mature state. The substantia nigra is the layer of gray substance that separates the posterior parts of the cerebral peduncles (tegmentum mesencephali) from the anterior parts; it normally includes a posterior compact part with many pigmented cells (pars compacta) and an anterior reticular part whose cells contain little pigment (pars reticularis).

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P06732	CKM	Creatine kinase M-type	Homo sapiens (Human)	PR

10	20	30	40	50	60
MPFSNSHNAL	KLRFPAEDEF	PDLSAHNNHM	AKVLTPELYA	ELRAKSTPSG	FTLDDVIQTG
70	80	90	100	110	120
VDNPGHPYIM	TVGCVAGDEE	SYEVFKDLFD	PIIEDRHGGY	KPSDEHKTDL	NPDNLQGGDD
130	140	150	160	170	180
LDPNYVLSSR	VRTGRSIRGF	CLPPHCSRGE	RRAIEKLAVE	ALSSLDGDLA	GRYYALKSMT
190	200	210	220	230	240
EAEQQQLIDD	HFLFDKPVSP	LLLASGMARD	WPDARGIWHN	DNKTFLVWVN	EEDHLRVISM
250	260	270	280	290	300
QKGGNMKEVF	TRFCTGLTQI	ETLFKSKDYE	FMWNPHLGYI	LTCPSNLGTG	LRAGVHIKLP
310	320	330	340	350	360
NLGKHEKFSE	VLKRLRLQKR	GTGGVDTAAV	GGVFDVSNAD	RLGFSEVELV	QMVVDGVKLL
370	380
IEMEQRLEQG	QAIDDLMPAQ	K