AiPD: Autoinhibited Protein Database

P06732

Gene name	CKM (CKMM)
Protein name	Creatine kinase M-type
Names	Carcinoembryonic antigen, CEA, Meconium antigen 100, Creatine kinase M chain, Creatine phosphokinase M-type, CPK-M, M-CK
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1158
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)

1-54 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-54 (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

3 structures for P06732

Entry ID	Method	Resolution	Chain	Position	Source
1I0E	X-ray	350 A	A/B/C/D	1-381	PDB
7BF2	X-ray	143 A	CCC/DDD	301-318	PDB
AF-P06732-F1	Predicted				AlphaFoldDB

403 variants for P06732

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs368649875 CA406369118	3	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs568900437 CA406369115	4	G>C		No	ClinGen ExAC TOPMed gnomAD
COSM227157 CA9511883 rs568900437	4	G>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1429392467 CA406369081	6	T>I		No	ClinGen TOPMed
rs1299328302 CA406369080	7	H>Y		No	ClinGen TOPMed gnomAD
rs756475007 CA9511882	11	K>E		No	ClinGen ExAC gnomAD
rs373928921 CA9511881	12	L>M		No	ClinGen ESP ExAC gnomAD
rs1599820554 CA406369000	13	N>H		No	ClinGen Ensembl
CA9511880 rs781462342	15	K>E		No	ClinGen ExAC TOPMed gnomAD
rs755339617 CA9511879	15	K>T		No	ClinGen ExAC gnomAD
rs751830939 CA406368950	16	P>S		No	ClinGen ExAC gnomAD
rs751830939 CA9511878	16	P>T		No	ClinGen ExAC gnomAD
CA406368943 rs1599820540	17	E>Q		No	ClinGen Ensembl
rs766933334 CA9511877	18	E>Q		No	ClinGen ExAC gnomAD
CA9511875 rs758846798	20	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA406368896 rs758846798	20	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs764713046 CA9511873	22	D>H		No	ClinGen ExAC gnomAD
CA406368874 rs764713046	22	D>N		No	ClinGen ExAC gnomAD
rs377118696 CA308961582	24	S>N		No	ClinGen Ensembl
CA9511872 rs761502043	24	S>R		No	ClinGen ExAC gnomAD
rs949802543 CA308961556	25	K>E		No	ClinGen TOPMed gnomAD
CA9511871 rs763610345	26	H>L		No	ClinGen ExAC TOPMed gnomAD
CA9511870 rs763610345	26	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1471374770 CA406368801	27	N>K		No	ClinGen gnomAD
CA308961539 rs991104728	28	N>H		No	ClinGen TOPMed gnomAD
rs145633772 CA9511868	30	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1599820509 CA406368783	30	M>L		No	ClinGen Ensembl
CA406368772 rs1485329819	31	A>T		No	ClinGen gnomAD
rs772143386 CA9511867	35	T>A		No	ClinGen ExAC gnomAD
rs745799406 COSM3823408 CA406368722	35	T>I	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745799406 CA9511866	35	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1599820496 CA406368711	36	L>P		No	ClinGen Ensembl
rs1226856230 CA406368688	38	L>H		No	ClinGen gnomAD
rs781509935 CA9511861	40	K>E		No	ClinGen ExAC gnomAD
CA406368663 rs1377369185	40	K>R		No	ClinGen gnomAD
CA9511859 rs140651487	43	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372629132 CA9511857	43	R>Q		No	ClinGen ExAC gnomAD
CA9511858 rs140651487	43	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA9511855 rs532075800	44	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA406368621 rs1157760411	44	D>N		No	ClinGen gnomAD
rs757316903 CA308961446	45	K>*		No	ClinGen Ensembl
rs1188157601 CA406368565	48	P>L		No	ClinGen gnomAD
rs1419537958 CA406368572	48	P>S		No	ClinGen gnomAD
rs371827047 CA406368556	49	S>F		No	ClinGen ESP TOPMed gnomAD
rs1409763934 CA406368562	49	S>P		No	ClinGen TOPMed
rs371827047 CA308961438	49	S>Y		No	ClinGen ESP TOPMed gnomAD
CA406368553 rs1188216871	50	G>S		No	ClinGen TOPMed gnomAD
rs1555770331 CA406368519	52	T>N		No	ClinGen Ensembl
rs1363502003 CA406368517	53	V>I		No	ClinGen TOPMed
rs201470105 CA9511854	54	D>G		No	ClinGen 1000Genomes ExAC
CA406368510 rs1267659567	54	D>H		No	ClinGen gnomAD
CA9511851 rs760176828	55	D>E		No	ClinGen ExAC TOPMed gnomAD
CA9511852 rs201048164	55	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	55	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308961380 rs1006369222	56	V>G		No	ClinGen TOPMed
CA308961357 rs759754446	59	T>A		No	ClinGen Ensembl
rs1298113118 CA406368474	59	T>I		No	ClinGen gnomAD
CA406368464 rs1277996598	61	V>G		No	ClinGen TOPMed
CA406368454 rs1383331739	62	D>E		No	ClinGen gnomAD
CA308961345 rs532081631	64	P>T		No	ClinGen gnomAD
CA9511826 rs533543986	65	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1482934350 CA406368297	66	H>Q		No	ClinGen TOPMed gnomAD
CA9511825 rs776827903	67	P>R		No	ClinGen ExAC TOPMed gnomAD
rs760997348 CA9511823	70	M>K		No	ClinGen ExAC
CA406368227 rs1445969248	70	M>V		No	ClinGen gnomAD
TCGA novel	71	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308959899 rs1803285 COSM190856	72	V>M	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA406368160 rs1555770168	73	G>C		No	ClinGen Ensembl
rs746241019 CA9511820	74	C>Y		No	ClinGen ExAC gnomAD
CA9511818 rs771533664	75	V>M		No	ClinGen ExAC TOPMed gnomAD
CA308959864 rs779460216	76	A>T		No	ClinGen Ensembl
CA406368072 rs1304495846	78	D>V		No	ClinGen TOPMed
CA9511816 rs777394301	79	E>K		No	ClinGen ExAC gnomAD
CA9511814 rs747625803	80	E>A		No	ClinGen ExAC gnomAD
rs755551868 CA9511815	80	E>K		No	ClinGen ExAC gnomAD
TCGA novel	81	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766061130 CA308959782	82	Y>H		No	ClinGen Ensembl
VAR_018680 CA9511811 rs11559024	83	E>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200170574 CA9511812 COSM1394582	83	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	84	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	84	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308959742 rs149197296	85	F>C		No	ClinGen ESP TOPMed gnomAD
TCGA novel	85	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766274732 CA9511810	86	K>*		No	ClinGen ExAC gnomAD
CA9511809 rs758407982	86	K>R		No	ClinGen ExAC TOPMed gnomAD
rs747251580 CA406367903	87	E>A		No	ClinGen gnomAD
rs747251580 CA308959702	87	E>G		No	ClinGen gnomAD
rs747251580 CA406367897	87	E>V		No	ClinGen gnomAD
CA406367893 rs1486312972	88	L>I		No	ClinGen gnomAD
CA406367856 rs1199205776	90	D>N		No	ClinGen gnomAD
rs1199205776 CA406367852	90	D>Y		No	ClinGen gnomAD
CA9511806 rs369274678	91	P>R		No	ClinGen ExAC TOPMed gnomAD
CA9511807 rs765177605	91	P>S		No	ClinGen ExAC TOPMed gnomAD
CA406367820 rs1555770148	92	I>M		No	ClinGen Ensembl
rs1349493811 CA406367827	92	I>T		No	ClinGen gnomAD
rs1286274268 CA406367815	93	I>N		No	ClinGen gnomAD
CA9511804 rs759748220	94	S>L		No	ClinGen ExAC TOPMed gnomAD
CA9511803 rs759748220	94	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1333430800 CA406367802	95	D>H		No	ClinGen TOPMed gnomAD
rs1333430800 CA406367800	95	D>Y		No	ClinGen TOPMed gnomAD
rs560561184 CA9511801	96	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA308959646 COSM2157082 rs780576836	96	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA308959626 rs773700586	97	H>Y		No	ClinGen Ensembl
CA406367770 rs773623528 CA9511799	98	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1359552674 CA406367755	99	G>C		No	ClinGen TOPMed
rs770291117 CA9511798	99	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9511797 rs747678334	100	Y>C		No	ClinGen ExAC
TCGA novel	100	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9511796 rs780785911	101	K>R		No	ClinGen ExAC gnomAD
rs754747384 CA9511795	102	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1358679379 CA406367680	103	T>A		No	ClinGen TOPMed
rs1358679379 CA406367678	103	T>S		No	ClinGen TOPMed
rs377387152 CA9511794	104	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779935915 CA9511793	105	K>R		No	ClinGen ExAC gnomAD
rs758155404 CA9511792	108	T>A		No	ClinGen ExAC gnomAD
CA9511790 rs765099470	109	D>G		No	ClinGen ExAC gnomAD
CA406367580 rs1208780262	109	D>N		No	ClinGen gnomAD
CA308959578 rs1032004811	111	N>S		No	ClinGen Ensembl
rs1234670205 CA406367525	112	H>D		No	ClinGen gnomAD
CA406367483 rs1283365609	113	E>A		No	ClinGen gnomAD
rs752839911 CA9511788	115	L>P		No	ClinGen ExAC gnomAD
CA406366683 rs1219871446	117	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1305803753 CA406366688	117	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA406366680 rs1219871446	117	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1366922958 CA406366672	118	G>E		No	ClinGen gnomAD
CA308957700 rs771688624	120	D>H		No	ClinGen ExAC TOPMed gnomAD
CA9511758 rs771688624	120	D>N	Variant assessed as Somatic; 7.224e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA406366628 rs1307778519	122	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9511755 rs770684496	126	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9511754 rs770684496	126	V>M		No	ClinGen ExAC TOPMed gnomAD
rs17875653 CA9511753	127	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs17875653 VAR_018681 RCV000996942 CA9511752	127	L>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1473355154 CA406366545	128	S>C		No	ClinGen gnomAD
CA406366516 rs1252321977	130	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9511750 rs755295582	130	R>H		No	ClinGen ExAC gnomAD
rs200253404 CA9511747 COSM1743025	131	V>I	biliary_tract Variant assessed as Somatic; 0.0 impact. pancreas [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA406366489 rs1210644702	132	R>C		No	ClinGen TOPMed gnomAD
rs147574145 CA9511746	132	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147574145 CA406366485	132	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	134	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9511744 rs754193712	135	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9511743 rs370269966	135	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA406366454 rs370269966	135	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9511742 rs761240618	136	S>G		No	ClinGen ExAC gnomAD
CA9511741 rs774920113	137	I>V		No	ClinGen ExAC gnomAD
CA9511739 rs759154185	139	G>D		No	ClinGen ExAC gnomAD
CA9511740 rs367804619	139	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9511737 rs770523008	141	T>M		No	ClinGen ExAC TOPMed gnomAD
rs774084970 CA9511738	141	T>P		No	ClinGen ExAC gnomAD
CA9511733 rs748106567	144	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748106567 CA406366351	144	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA9511734 rs546491801	144	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA406366322 rs1218026731	146	C>Y		No	ClinGen gnomAD
CA406366313 rs1267750089	147	S>A		No	ClinGen gnomAD
rs201797734 CA308957488	148	R>C		No	ClinGen TOPMed gnomAD
CA9511731 rs758534544	148	R>H		No	ClinGen ExAC gnomAD
rs1396000138 CA406366282	150	E>K		No	ClinGen TOPMed gnomAD
CA406366279 rs1396000138	150	E>Q		No	ClinGen TOPMed gnomAD
CA308957462 rs371426787	151	R>C		No	ClinGen ESP TOPMed gnomAD
rs377002933 CA9511729	151	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9511727 rs146705516	152	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149872015 CA9511728	152	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9511726 rs190519310	153	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406366230 rs1599818278	154	V>G		No	ClinGen Ensembl
CA406366228 rs1555769873	155	E>K		No	ClinGen Ensembl
CA9511723 rs767872826	156	K>R		No	ClinGen ExAC TOPMed gnomAD
CA406366201 rs773753476	157	L>F		No	ClinGen gnomAD
rs773753476 CA308957411	157	L>V		No	ClinGen gnomAD
TCGA novel	158	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308957406 rs775443905	158	S>T		No	ClinGen Ensembl
CA406366175 rs1411556600	159	V>G		No	ClinGen gnomAD
rs1423235331 CA406366184	159	V>M		No	ClinGen gnomAD
rs759109165 CA9511722	161	A>T		No	ClinGen ExAC gnomAD
rs762646021 CA9511701	161	A>V		No	ClinGen ExAC gnomAD
CA9511699 rs17357122 VAR_049675	166	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9511697 rs745829453	167	G>R		No	ClinGen ExAC gnomAD
rs745829453 CA308954408	167	G>S		No	ClinGen ExAC gnomAD
CA406364957 COSM998173 rs1431630218	168	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA406364951 rs1254505880	168	E>V		No	ClinGen gnomAD
TCGA novel	169	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746579943 CA308954389	169	F>L		No	ClinGen Ensembl
rs372948338 CA308954387	169	F>L		No	ClinGen ESP TOPMed gnomAD
rs141322657 CA9511694	172	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1555769412 CA406364879	173	Y>C		No	ClinGen Ensembl
rs768287412 CA308954364	173	Y>H		No	ClinGen Ensembl
TCGA novel	173	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406364867 rs1555769409	174	Y>F		No	ClinGen Ensembl
rs947995711 CA308954353	174	Y>H		No	ClinGen TOPMed
rs1555769409 CA406364869	174	Y>S		No	ClinGen Ensembl
CA406364857 rs1273116547	175	P>S		No	ClinGen TOPMed gnomAD
rs1273116547 CA406364861	175	P>T		No	ClinGen TOPMed gnomAD
rs139922517 CA308954343	176	L>P		No	ClinGen ESP TOPMed gnomAD
rs1555769406 CA406364809	180	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA9511691 rs145987658 COSM190855	180	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs145987658 CA9511692	180	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	181	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	181	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599816353 CA406364798	182	K>Q		No	ClinGen Ensembl
CA406364795 rs1555769403	182	K>R		No	ClinGen Ensembl
CA406364790 rs1343248816	183	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs946017319 CA308954259	184	Q>H		No	ClinGen Ensembl
CA406364767 rs1396375659	186	Q>E		No	ClinGen TOPMed
rs1349576044 CA406364743	189	D>G		No	ClinGen TOPMed gnomAD
CA406364746 rs755569873	189	D>H		No	ClinGen ExAC TOPMed gnomAD
rs755569873 CA9511686	189	D>N		No	ClinGen ExAC TOPMed gnomAD
rs201705552 CA308954219	190	D>H		No	ClinGen 1000Genomes
rs1225179114 CA406364714	193	L>Q		No	ClinGen gnomAD
CA308954203 COSM3422927 rs777073631	195	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs764944218 CA9511681	198	V>G		No	ClinGen ExAC TOPMed gnomAD
CA9511682 rs138317169	198	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs529413092 CA9511678	200	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761363806 CA9511679	200	P>S		No	ClinGen ExAC gnomAD
CA406364667 rs1458228544	201	L>V		No	ClinGen TOPMed
CA308954168 rs761162879	202	L>V		No	ClinGen gnomAD
CA406364651 rs1320723205	204	A>V		No	ClinGen gnomAD
CA406364635 rs1269630517	207	M>V		No	ClinGen gnomAD
rs760734453 CA9511676	208	A>S		No	ClinGen ExAC gnomAD
COSM389305 CA9511675 rs775597882	209	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA406364621 rs775597882	209	R>G		No	ClinGen ExAC TOPMed gnomAD
rs937525601 CA308954160	209	R>H		No	ClinGen TOPMed gnomAD
rs937525601 CA406364619	209	R>L		No	ClinGen TOPMed gnomAD
CA9511673 rs763140355	210	D>E		No	ClinGen ExAC gnomAD
CA406364618 COSM1734775 rs1333369617	210	D>N	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs773099555 CA9511672	211	W>*		No	ClinGen ExAC gnomAD
rs1390879433 CA406364607	211	W>*		No	ClinGen gnomAD
CA406364611 rs1555769379	211	W>R		No	ClinGen Ensembl
CA406364591 rs768979645 CA406364592	213	D>E		No	ClinGen ExAC gnomAD
rs781660516 CA9511669	213	D>N		No	ClinGen ExAC gnomAD
rs1165360765 CA406364595	213	D>V		No	ClinGen gnomAD
rs546735171 CA9511666	215	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs907562870 CA308954061	215	R>H		No	ClinGen TOPMed
CA9511664 rs780548638	216	G>D		No	ClinGen ExAC gnomAD
CA9511663 rs373872310	217	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA308954047 rs878868288	217	I>V		No	ClinGen Ensembl
rs754197288 CA308950844	219	H>Q		No	ClinGen Ensembl
rs1599814283 CA406364121	219	H>Y		No	ClinGen Ensembl
rs775825369 CA9511646	220	N>I		No	ClinGen ExAC gnomAD
rs775825369 CA406364101	220	N>S		No	ClinGen ExAC gnomAD
CA308950839 rs889950583	220	N>Y		No	ClinGen TOPMed gnomAD
CA406364090 rs1555768925	221	D>A		No	ClinGen Ensembl
rs1301639239 CA406364079	222	N>D		No	ClinGen gnomAD
rs1432240474 CA406364076	222	N>S		No	ClinGen gnomAD
CA406364056 rs1333613891	223	K>N		No	ClinGen TOPMed
CA9511644 rs772621306	224	S>T		No	ClinGen ExAC gnomAD
CA406364036 rs1168435782	225	F>L		No	ClinGen gnomAD
CA308950823 rs17850202	225	F>L		No	ClinGen Ensembl
rs1048675778 CA308950817	228	W>C		No	ClinGen TOPMed gnomAD
CA308950792 rs1050435158	229	V>A		No	ClinGen Ensembl
CA406364003 rs1250575319	230	N>K		No	ClinGen gnomAD
CA406363992 rs1267054691	232	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1599814240 CA406363970	234	H>P		No	ClinGen Ensembl
CA406363951 rs1356760600	235	L>R		No	ClinGen TOPMed
CA9511642 rs367853842	236	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA406363937 rs1245978838	237	V>I		No	ClinGen gnomAD
rs1248268129 CA406363912	239	S>T		No	ClinGen TOPMed
CA406363906 rs1308901688	239	S>Y		No	ClinGen gnomAD
rs1197002494 CA406363890	240	M>I		No	ClinGen gnomAD
CA406363885 rs1310135134	241	E>Q		No	ClinGen TOPMed gnomAD
rs371276267 CA406363862	242	K>N		No	ClinGen ESP ExAC gnomAD
VAR_018682 rs17875625 CA9511639	243	G>A		No	ClinGen UniProt ExAC dbSNP gnomAD
CA406363857 rs935566989	243	G>R		No	ClinGen gnomAD
rs17875625 CA406363850	243	G>V		No	ClinGen ExAC gnomAD
CA308950773 rs935566989	243	G>W		No	ClinGen gnomAD
rs755762549 CA9511638	244	G>C		No	ClinGen ExAC gnomAD
CA308950767 rs56905146	245	N>H		No	ClinGen Ensembl
rs752605673 CA9511637	248	E>D		No	ClinGen ExAC TOPMed gnomAD
CA406363781 rs1220070267	248	E>V		No	ClinGen gnomAD
CA406363774 rs1382843366	249	V>I		No	ClinGen gnomAD
rs1555768905 CA406363757	250	F>S		No	ClinGen Ensembl
CA406363745 rs149354459	251	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9511635 rs149354459 RCV000881790	251	R>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9511636 rs767407229	251	R>S		No	ClinGen ExAC gnomAD
rs751425404 CA9511634	252	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1201252 rs1167863722 CA406363736	252	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA9511630 rs764364130	255	V>A		No	ClinGen ExAC gnomAD
rs372379123 CA9511631	255	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs372379123 CA9511632 CA308950730	255	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	256	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760870133 CA9511629	257	L>M		No	ClinGen ExAC gnomAD
rs1396331366 CA406363681	258	Q>K		No	ClinGen gnomAD
CA9511628 rs775878391	258	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs775878391 CA308950700	258	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs774709360 CA9511603	260	I>T		No	ClinGen ExAC gnomAD
rs771408722 CA9511602	261	E>D		No	ClinGen ExAC gnomAD
rs757580716 CA308950037	261	E>G		No	ClinGen Ensembl
CA406363556 rs1249653303	261	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	262	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406363465 rs1555768801	265	K>E		No	ClinGen Ensembl
CA308950002 rs760487207	265	K>M		No	ClinGen Ensembl
CA9511599 rs138693691	267	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9511600 rs772900129	267	A>T		No	ClinGen ExAC gnomAD
rs1555768796 CA406363403	268	G>C		No	ClinGen Ensembl
CA308949992 rs775013601	269	H>R		No	ClinGen Ensembl
CA308949990 rs760826961	270	P>R		No	ClinGen Ensembl
rs1450101915 CA406363383	270	P>T		No	ClinGen gnomAD
rs1555768790 CA406363336	272	M>I		No	ClinGen Ensembl
COSM998170 rs781018931 CA9511597	272	M>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	274	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555768787 CA406363293	274	N>Y		No	ClinGen Ensembl
rs1599813556 CA406363269	275	Q>E		No	ClinGen Ensembl
rs200633759 CA9511596	275	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1295246439 CA406363220	277	L>V		No	ClinGen TOPMed
rs201697202 CA9511595	279	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs758314659 CA9511593	280	V>A		No	ClinGen ExAC TOPMed
rs1340153316 CA406363166	280	V>L		No	ClinGen TOPMed
rs1340153316 CA406363170	280	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1222453352 CA406363149	281	L>P		No	ClinGen gnomAD
rs1357914258 CA406363131	283	C>Y		No	ClinGen gnomAD
rs750776616 CA308949970	286	N>D		No	ClinGen Ensembl
CA9511592 rs750327236	286	N>I		No	ClinGen ExAC TOPMed gnomAD
CA406363085 rs750327236	286	N>S		No	ClinGen ExAC TOPMed gnomAD
CA406362993 rs1369518175	292	R>C		No	ClinGen TOPMed gnomAD
rs961557355 CA308949953	292	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA406362996 rs1369518175	292	R>S		No	ClinGen TOPMed gnomAD
rs565428059 CA9511586	296	H>P		No	ClinGen 1000Genomes ExAC gnomAD
CA406362934 rs1450800254	296	H>Q		No	ClinGen TOPMed
rs565428059 CA9511587	296	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1555768776 CA406362930	297	V>L		No	ClinGen Ensembl
CA308949921 rs748849608	298	K>*		No	ClinGen Ensembl
CA406362893 rs1430523410	299	L>Q		No	ClinGen TOPMed gnomAD
CA406362890 rs1430523410	299	L>R		No	ClinGen TOPMed gnomAD
rs150271912 CA9511585	299	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406362878 rs763411131	300	A>E		No	ClinGen ExAC TOPMed gnomAD
CA308949913 rs763411131	300	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9511583 rs763411131	300	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA406362869 rs1599813469	301	H>N		No	ClinGen Ensembl
rs1044619381 CA406362858	301	H>Q		No	ClinGen TOPMed gnomAD
CA308949865 rs765265712	302	L>Q		No	ClinGen Ensembl
rs1599813457 CA406362796	305	H>P		No	ClinGen Ensembl
CA406362784 rs1435096869	305	H>Q		No	ClinGen gnomAD
CA308949853 rs185267891	305	H>Y		No	ClinGen 1000Genomes
CA9511581 rs770377664	306	P>H		No	ClinGen ExAC gnomAD
CA9511582 rs770377664	306	P>R		No	ClinGen ExAC gnomAD
CA406362778 rs1268576474	306	P>S		No	ClinGen gnomAD
CA9511580 rs374105815	309	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9511579 rs776217748	310	E>D		No	ClinGen ExAC TOPMed
CA9511577 rs768246830	311	I>N		No	ClinGen ExAC TOPMed gnomAD
rs768246830 CA406362657	311	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1599813436 CA406362640	312	L>P		No	ClinGen Ensembl
CA9511576 rs746647107	313	T>P		No	ClinGen ExAC gnomAD
rs1313579937 CA406362615	314	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA406362617 rs1313579937	314	R>L		No	ClinGen TOPMed gnomAD
rs1404116414 CA406362601	316	R>C		No	ClinGen gnomAD
rs1404116414 CA406362603	316	R>G		No	ClinGen gnomAD
CA406362604 rs1404116414	316	R>S		No	ClinGen gnomAD
CA406362593 rs1555768762	317	L>M		No	ClinGen Ensembl
CA308949832 rs768013382	317	L>P		No	ClinGen Ensembl
CA406362571 rs1568508688	318	Q>H		No	ClinGen Ensembl
rs1395911135 CA406362495	321	G>D		No	ClinGen gnomAD
CA9511573 rs771930230	322	T>A		No	ClinGen ExAC gnomAD
rs755118893 CA9511549	323	G>D		No	ClinGen ExAC gnomAD
rs745611967 CA9511572	323	G>S		No	ClinGen ExAC TOPMed gnomAD
rs747014280 CA9511548	325	V>M		No	ClinGen ExAC TOPMed gnomAD
rs890813752 CA308944900	329	A>T		No	ClinGen Ensembl
CA406361734 rs1294909412	329	A>V		No	ClinGen Ensembl
CA9511547 rs554506651	330	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9511546 rs554506651	330	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406361714 rs1165561354	331	G>C		No	ClinGen gnomAD
rs1599813082 CA406361690	332	S>A		No	ClinGen Ensembl
rs1266532005 CA406361677	333	V>I		No	ClinGen gnomAD
CA9511543 rs750888133	334	F>I		No	ClinGen ExAC TOPMed gnomAD
rs1442178275 CA406361635	335	D>H		No	ClinGen TOPMed gnomAD
rs571861320 CA9511541	336	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs571861320 CA406361613	336	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs754398806 CA9511540	337	S>A		No	ClinGen ExAC gnomAD
CA9511538 COSM1712500 rs760245192	338	N>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA406361531 rs1206844415	339	A>V		No	ClinGen TOPMed
COSM3378772 rs1360056661 CA406361496	341	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA9511537 COSM1712499 rs774793814	344	S>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs759175697 CA9511535	345	S>T		No	ClinGen ExAC gnomAD
CA406361404 rs1430253523 COSM190854	346	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA406361365 rs1365522201	347	V>A		No	ClinGen TOPMed gnomAD
CA406361366 rs1365522201	347	V>E		No	ClinGen TOPMed gnomAD
rs1406154976 CA406361372	347	V>L		No	ClinGen gnomAD
CA406361355 rs1162148814	348	E>K		No	ClinGen gnomAD
CA9511532 rs199913939	349	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA308944794 rs1049403050	350	V>A		No	ClinGen TOPMed
CA9511530 rs773226812	354	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM1201249 CA9511529 rs769563289	356	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA308944765 rs932289676	360	M>I		No	ClinGen Ensembl
CA308944766 rs76072092	360	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs76072092 CA9511528	360	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA406361113 rs1568508454	361	V>A		No	ClinGen Ensembl
rs1555768652 CA406361097	363	M>L		No	ClinGen Ensembl
CA308944764 rs377736202	364	E>Q		No	ClinGen ESP TOPMed gnomAD
rs780083622	366	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	366	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9511524 rs746052741	368	E>G		No	ClinGen ExAC gnomAD
rs772467740 CA9511525	368	E>K		No	ClinGen ExAC gnomAD
CA308944752 rs777946478	369	K>E		No	ClinGen Ensembl
rs1344121958 CA406360897	372	S>F		No	ClinGen gnomAD
CA9511522 rs757715478	372	S>P		No	ClinGen ExAC gnomAD
CA406360895 rs1214271301	373	I>V		No	ClinGen gnomAD
CA406360882 rs1287263315	374	D>N		No	ClinGen TOPMed
TCGA novel	374	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1405865783 CA406360859	375	D>N		No	ClinGen TOPMed gnomAD
rs376809982 CA308944736	376	M>I		No	ClinGen ESP TOPMed
CA406360831 rs1240836395	376	M>T		No	ClinGen TOPMed
CA9511519 rs756574362	378	P>R		No	ClinGen ExAC gnomAD
rs560579155 CA9511520	378	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1345229467 CA406360792	379	A>T		No	ClinGen gnomAD
rs752308232 CA9511518	380	Q>H		No	ClinGen ExAC gnomAD
rs142092440 RCV000966484 CA9511515	382	K>Q		No	ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP

No associated diseases with P06732

3 regional properties for P06732

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
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.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.

3 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.

2 GO annotations of biological process

Name	Definition
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.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P12277	CKB	Creatine kinase B-type	Homo sapiens (Human)	PR

10	20	30	40	50	60
MPFGNTHNKF	KLNYKPEEEY	PDLSKHNNHM	AKVLTLELYK	KLRDKETPSG	FTVDDVIQTG
70	80	90	100	110	120
VDNPGHPFIM	TVGCVAGDEE	SYEVFKELFD	PIISDRHGGY	KPTDKHKTDL	NHENLKGGDD
130	140	150	160	170	180
LDPNYVLSSR	VRTGRSIKGY	TLPPHCSRGE	RRAVEKLSVE	ALNSLTGEFK	GKYYPLKSMT
190	200	210	220	230	240
EKEQQQLIDD	HFLFDKPVSP	LLLASGMARD	WPDARGIWHN	DNKSFLVWVN	EEDHLRVISM
250	260	270	280	290	300
EKGGNMKEVF	RRFCVGLQKI	EEIFKKAGHP	FMWNQHLGYV	LTCPSNLGTG	LRGGVHVKLA
310	320	330	340	350	360
HLSKHPKFEE	ILTRLRLQKR	GTGGVDTAAV	GSVFDVSNAD	RLGSSEVEQV	QLVVDGVKLM
370	380
VEMEKKLEKG	QSIDDMIPAQ	K