AiPD: Autoinhibited Protein Database

Q5VXH5

Gene name	PRAMEF7
Protein name	PRAME family member 7
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:441871
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

95-167 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

95-167 (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

1 structures for Q5VXH5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5VXH5-F1	Predicted				AlphaFoldDB

258 variants for Q5VXH5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338677842 rs1445499385	4	R>G		No	TOPMed ClinGen
rs1356640422 CA338677860	6	P>L		No	TOPMed ClinGen
CA338677863 rs1261431746	7	P>S		No	TOPMed gnomAD ClinGen
TCGA novel	13	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338677902 rs1316685735	13	A>V		No	TOPMed ClinGen
TCGA novel	20	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1553170311 CA338677962	22	A>V		No	Ensembl ClinGen
CA338677990 rs1260550781	26	S>F		No	TOPMed ClinGen
rs1441092069 CA338678000	28	M>K		No	ClinGen TOPMed
rs1187257069 CA338678013	29	E>D		No	TOPMed ClinGen
rs1473898874 CA338678016	30	E>*		No	ClinGen TOPMed
rs1191700475 CA338678017	30	E>A		No	ClinGen TOPMed
TCGA novel	32	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1423074925 CA338678069	38	T>A		No	TOPMed ClinGen
TCGA novel	38	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338678095 rs1171346026	41	M>I		No	ClinGen TOPMed
CA338678142 rs1398516090	48	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1412634013 CA338678143	48	R>H		No	TOPMed ClinGen
rs1569931076 CA338678162	51	T>P		No	ClinGen Ensembl
rs1333295797 CA338678171	52	L>P		No	ClinGen TOPMed
CA338678204 rs1340778527	57	Q>*		No	TOPMed ClinGen
CA338678212 rs1416260726	58	A>S		No	ClinGen TOPMed
TCGA novel	59	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1569931098 CA338678239	62	T>P		No	Ensembl ClinGen
TCGA novel	63	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338678254 rs1339364584	64	L>H		No	ClinGen TOPMed
rs1218680849 CA338678307	72	S>L		No	ClinGen TOPMed
CA338678336 rs1272482529	77	S>P		No	TOPMed ClinGen
TCGA novel	79	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338678389 rs1343524739	85	V>F		No	TOPMed ClinGen
COSM3360272 rs1200314460 CA338678391	85	V>G	kidney [Cosmic]	No	TOPMed ClinGen cosmic curated
rs200627015 CA17656821	94	R>H		No	1000Genomes TOPMed ClinGen
CA338678461 rs1444470655	96	R>T		No	ClinGen TOPMed
rs1569931205 CA338678996	170	K>T		No	ClinGen Ensembl
rs1569931214 CA338679014	172	R>S		No	Ensembl ClinGen
CA338679019 rs1569931216	173	K>T		No	Ensembl ClinGen
CA338679038 rs1569931222	176	L>V		No	ClinGen Ensembl
rs1569931231 CA338679068	180	C>F		No	Ensembl ClinGen
rs1569931231 CA338679069	180	C>Y		No	Ensembl ClinGen
CA338679072 rs113549705	181	K>Q		No	ClinGen Ensembl
rs1569931241 CA338679075	181	K>T		No	Ensembl ClinGen
rs1569931249 CA338679080	182	E>*		No	ClinGen Ensembl
rs1569931254 CA338679109	186	F>V		No	Ensembl ClinGen
rs1569931264 CA338679127	188	M>I		No	Ensembl ClinGen
rs1569931275 CA338679273	208	V>G		No	ClinGen Ensembl
CA17656823 rs201364169	213	P>H		No	1000Genomes gnomAD ClinGen
CA338679336 rs1185517586	217	S>C		No	ClinGen gnomAD
rs1553170329 CA338679416	229	M>I		No	Ensembl ClinGen
rs1467529523 CA338679442	233	R>C		No	ClinGen gnomAD
CA338679445 rs1419776952	233	R>H		No	gnomAD ClinGen
rs1285695231 CA338679552	249	D>E		No	ClinGen TOPMed
rs1238400119 CA338679550	249	D>G		No	TOPMed ClinGen
rs1429850951 CA338679571	252	G>R		No	ClinGen gnomAD
rs1218985225 CA338679603	256	A>G		No	TOPMed ClinGen
rs1488756617 CA338679599	256	A>T		No	ClinGen TOPMed
rs1173334401 CA338679605	257	R>*		No	gnomAD ClinGen
CA338679739 rs1451098322	276	V>I		No	ClinGen TOPMed
CA338679752 rs1359867686	278	F>L		No	ClinGen gnomAD
CA338679796 rs912286876	284	D>G		No	TOPMed gnomAD ClinGen
rs1397564409 CA338679811	286	L>P		No	ClinGen gnomAD
CA17656874 CA17656875 rs762338686	288	R>S		No	ClinGen ExAC gnomAD
CA338679840 rs1443531718	289	C>*		No	ClinGen gnomAD
CA17656876 rs267597991	291	Q>*		No	ClinGen Ensembl
rs760733166 CA338679859	292	A>D		No	ClinGen ExAC gnomAD
CA338679855 rs1353611298	292	A>T		No	ClinGen gnomAD
rs760733166 CA17656877	292	A>V		No	ExAC gnomAD ClinGen
rs200741009 CA17656879	293	S>P		No	TOPMed gnomAD ClinGen
CA17656881 rs759623044	294	L>S		No	ClinGen ExAC TOPMed gnomAD
CA338679875 rs1470040055	295	E>G		No	gnomAD ClinGen
CA17656884 rs752497058 CA338679884	296	M>I		No	ExAC TOPMed gnomAD ClinGen
rs765098047 CA338679880	296	M>L		No	ClinGen ExAC gnomAD
rs1237275187 CA338679883	296	M>T		No	TOPMed gnomAD ClinGen
rs765098047 CA17656883	296	M>V		No	ClinGen ExAC gnomAD
CA338679890 rs1161141260	297	V>A		No	ClinGen gnomAD
CA17656885 rs938182542	297	V>F		No	ClinGen TOPMed
CA17656890 rs377183480	298	V>I		No	ESP ExAC TOPMed gnomAD ClinGen
rs780500469 CA17656892	299	M>L		No	ExAC gnomAD ClinGen
rs1056520350 CA17656893	299	M>T		No	ClinGen TOPMed
rs1392410657 CA338679904	300	T>A		No	gnomAD ClinGen
CA338679906 rs1176442249	300	T>N		No	TOPMed ClinGen
rs779290870 CA338679914	301	D>E		No	ExAC TOPMed gnomAD ClinGen
rs200633461 CA17656895	301	D>N		No	ESP ExAC gnomAD ClinGen
CA17656897 rs748491413	302	C>R		No	ClinGen ExAC gnomAD
rs761107262 CA17656900	305	S>*		No	ClinGen ExAC gnomAD
rs761107262 CA338679936	305	S>L		No	ClinGen ExAC gnomAD
CA17656899 rs773706355	305	S>P		No	ExAC TOPMed gnomAD ClinGen
CA17656901 rs771059723	306	E>*		No	ExAC ClinGen
CA338679940 rs1244143599	306	E>G		No	gnomAD ClinGen
rs571719128 CA338679947	307	S>*		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs571719128 CA17656902	307	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1337050118 CA338679945	307	S>T		No	ClinGen TOPMed gnomAD
rs752585231 CA17656905	311	H>R		No	ExAC gnomAD ClinGen
CA338679981 rs1419305454	312	L>H		No	gnomAD ClinGen
rs147147641 CA17656906	312	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757084656 CA17656909	314	W>*		No	ExAC gnomAD ClinGen
rs751546500 CA17656908	314	W>G		No	ExAC gnomAD ClinGen
rs372890610 CA17656910	315	C>*		No	ESP TOPMed gnomAD ClinGen
rs1159549117 CA338679998	315	C>R		No	TOPMed gnomAD ClinGen
rs749869758 CA17656912	316	P>L		No	ClinGen ExAC TOPMed gnomAD
rs749869758 CA338680007	316	P>R		No	ClinGen ExAC TOPMed gnomAD
rs780776790 CA17656911	316	P>S		No	ClinGen ExAC gnomAD
rs779669158 CA17656914	317	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA17656915 rs748577135	318	I>N		No	ClinGen ExAC gnomAD
rs772427724 CA17656916	319	R>C		No	ClinGen ExAC gnomAD
CA17656917 COSM1127429 rs369932937	319	R>H	prostate [Cosmic]	No	ESP ExAC gnomAD ClinGen cosmic curated
rs574281733 CA17656919	321	L>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA17656920 rs543634291	323	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA338680048 rs1251737594	323	E>Q		No	gnomAD ClinGen
rs1198604113 CA338680057	324	L>P		No	gnomAD ClinGen
CA17656921 rs202057633	324	L>V		No	ExAC ClinGen
CA338680064 rs1475225508	325	D>E		No	ClinGen gnomAD
rs142620576 CA17656924	326	L>P		No	ESP ExAC TOPMed gnomAD ClinGen
rs142620576 CA17656925	326	L>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA17656923 rs372734426	326	L>V		No	ESP ExAC gnomAD ClinGen
rs150974181 CA17656927	327	R>M		No	ESP ExAC gnomAD ClinGen
rs150974181 CA17656926	327	R>T		No	ESP ExAC gnomAD ClinGen
CA338680079 rs1318390203	329	V>I		No	TOPMed gnomAD ClinGen
CA17656930 rs761850062	330	T>M		No	ClinGen ExAC TOPMed gnomAD
CA338680085 rs1218866153	330	T>P		No	gnomAD ClinGen
CA17656929 rs761850062	330	T>R		No	ClinGen ExAC TOPMed gnomAD
rs146557433 CA17656932	332	T>N		No	ESP ExAC gnomAD ClinGen
CA17656933 rs146557433	332	T>S		No	ClinGen ESP ExAC gnomAD
rs753498862 CA338680098	333	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs753498862 CA17656934	333	H>Y		No	ExAC gnomAD ClinGen
rs754572734 CA17656935	334	F>L		No	ExAC gnomAD ClinGen
rs754572734 COSM263085 CA17656936	334	F>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA338680106 rs1249514244	334	F>Y		No	ClinGen TOPMed
CA338680114 COSM3736699 rs1296577575	335	S>N	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs747308607 CA338680117	335	S>R		No	ClinGen ExAC gnomAD
CA17656939 rs757835092	336	P>L		No	ExAC gnomAD ClinGen
rs149421789 CA17656940	338	P>S		No	ESP TOPMed gnomAD ClinGen
CA338680137 rs1215253572	339	L>I		No	gnomAD ClinGen
TCGA novel	340	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1486571468 CA338680152	341	G>D		No	ClinGen TOPMed gnomAD
CA338680149 rs1409837251	341	G>S		No	TOPMed gnomAD ClinGen
rs1486571468 CA338680154	341	G>V		No	TOPMed gnomAD ClinGen
rs746029347 CA17656942	342	L>R		No	ExAC gnomAD ClinGen
rs749544101 CA17656945	345	Q>*		No	ExAC gnomAD ClinGen
rs1890765 CA17656947	346	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA17656948 rs774250097	347	V>E		No	ClinGen ExAC TOPMed gnomAD
rs767556681 CA17656950	350	L>P		No	ClinGen ExAC TOPMed gnomAD
rs532610431 CA338680206	351	Q>*		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs532610431 CA17656952	351	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA17656953 rs760545474	352	T>N	Variant assessed as Somatic; 7.835e-05 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA17656954 rs765893098	353	L>V		No	ClinGen ExAC gnomAD
CA338680232 rs1354971182	355	L>S		No	TOPMed ClinGen
TCGA novel	357	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1283830320 CA338680255	358	C>Y		No	gnomAD ClinGen
rs754660856 CA17656956	361	M>K		No	ClinGen ExAC TOPMed gnomAD
rs1318158693 CA338680273	361	M>V		No	gnomAD ClinGen
CA338680297 rs1225097177	364	Q>*		No	TOPMed ClinGen
CA338680319 rs1192137752 COSM894962	367	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
TCGA novel	367	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372074281 CA17656959	371	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1569933088 CA338680354	373	S>N		No	ClinGen Ensembl
rs1406462855 CA338680361	374	R>C		No	ClinGen TOPMed gnomAD
CA338680360 rs1406462855	374	R>G		No	TOPMed gnomAD ClinGen
CA338680362 rs1402492225	374	R>H		No	TOPMed gnomAD ClinGen
rs1402492225 CA338680364	374	R>L		No	ClinGen TOPMed gnomAD
TCGA novel	377	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1419338688 CA338680401	380	T>S		No	TOPMed ClinGen
CA338680436 rs1170330532	384	C>F		No	ClinGen TOPMed
CA338680455 rs1374031204	387	L>F		No	ClinGen TOPMed
rs200038912 CA17656961	388	I>T		No	gnomAD ClinGen
rs1000847141 CA17656962	389	S>P		No	ClinGen TOPMed
CA338680471 rs1463846913	390	M>V		No	TOPMed ClinGen
TCGA novel	392	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	393	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1476274692 CA338680501	394	E>G		No	ClinGen TOPMed gnomAD
CA338680512 rs1168625099 CA338680511	395	N>K		No	TOPMed gnomAD ClinGen
rs1371399956 CA338680525	398	R>C		No	ClinGen TOPMed gnomAD
COSM181127 rs1410587983 CA338680526	398	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA17656965 rs147164546	401	V>I		No	TOPMed gnomAD ClinGen
rs1288605057 CA338680550 CA338680549	402	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs1288605057 CA338680548	402	G>W		No	TOPMed gnomAD ClinGen
CA17656966 rs1054800875	404	S>G		No	TOPMed gnomAD ClinGen
CA338680565 rs1430751635	404	S>R		No	ClinGen TOPMed
TCGA novel	407	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	409	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338680600 rs1215109974	410	L>M		No	ClinGen TOPMed gnomAD
rs1273448476 CA338680609	411	Y>C		No	ClinGen gnomAD
CA338680618 rs1394811728	412	P>L		No	TOPMed ClinGen
CA338680617 rs1394811728	412	P>R		No	TOPMed ClinGen
TCGA novel	412	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1430090899 CA338680626	414	P>A		No	TOPMed ClinGen
rs1289464869 CA338680628	414	P>L		No	TOPMed ClinGen
TCGA novel	415	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1362578662 CA338680640	416	E>G		No	TOPMed ClinGen
rs746376394 CA17656967	419	D>N		No	ClinGen ExAC gnomAD
CA17656969 rs780312066	420	T>A		No	ExAC gnomAD ClinGen
TCGA novel	420	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338680674 rs1234704881	421	Q>E		No	TOPMed gnomAD ClinGen
rs1301007347 CA338680679 CA338680678	421	Q>H		No	ClinGen TOPMed
TCGA novel	421	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368907716 CA17656971	422	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368907716 CA17656970	422	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA338680683 rs1413092929	422	G>V		No	TOPMed gnomAD ClinGen
CA338680685 rs1314674431	423	A>T		No	ClinGen TOPMed
rs144067089 CA17656973	423	A>V		No	ClinGen ESP
rs778996785 CA17656974	425	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
TCGA novel	425	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	427	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748333459 CA17656975	427	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1192287719 CA338680718	428	R>K		No	TOPMed ClinGen
rs773008124 CA17656977	430	A>S		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	431	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	431	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760633288 CA17656978	431	E>Q		No	ExAC TOPMed gnomAD ClinGen
CA338680752 rs1569933368	433	G>E		No	Ensembl ClinGen
TCGA novel	433	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	434	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs996690856 CA338680768	435	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	437	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs9328936 CA17656982	438	N>K		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA916111265 rs1553170457	438	N>KTP		No	ClinGen gnomAD
rs1832597 CA17656983	440	L>P		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA1154308658 rs1832597	440	L>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1832597 CA887963527	440	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1271242047 CA338680789	441	R>G		No	gnomAD ClinGen
TCGA novel	441	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140631009 CA17656987	441	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs201079560 CA17656986	441	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	442	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA17656988 rs750760404	443	L>F		No	ClinGen ExAC TOPMed gnomAD
CA17656990 rs780693974	445	Q>H		No	ExAC gnomAD ClinGen
rs754038163 CA17656991	446	P>S		No	ExAC gnomAD ClinGen
CA338680840 rs1166368913	448	I>M		No	ClinGen gnomAD
CA17656992 rs113065075	448	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338680846 rs1212445593	449	I>N		No	TOPMed ClinGen
CA338680862 rs1421310918	452	C>S		No	TOPMed gnomAD ClinGen
rs568805488 CA17656995	454	V>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs376731611 CA338680876	454	V>F		No	ESP ExAC TOPMed gnomAD ClinGen
rs376731611 CA17656994	454	V>I		No	ESP ExAC TOPMed gnomAD ClinGen
CA338680882 rs1416066052	455	P>S		No	ClinGen TOPMed gnomAD
rs1474263565 CA338680897	457	P>H		No	ClinGen TOPMed
CA338680902 rs1339281654	458	R>C		No	ClinGen TOPMed gnomAD
CA338680901 rs1339281654	458	R>G		No	ClinGen TOPMed gnomAD
CA338680904 rs1224717852	458	R>H		No	ClinGen TOPMed gnomAD
CA338680909 rs1271592483	459	C>Y		No	gnomAD ClinGen
CA338680919 rs1352491909	460	G>V		No	ClinGen TOPMed
rs1341862572 CA338680920	461	I>L		No	gnomAD ClinGen
CA338680923 rs1215567181	461	I>N		No	gnomAD ClinGen
CA338680927 rs1441083065	462	R>G		No	ClinGen TOPMed
CA338680936 rs1569933615	463	A>D		No	Ensembl ClinGen
rs746780501 CA17656997	463	A>S		No	ClinGen ExAC gnomAD
rs1298395552 CA338680949	465	Y>C		No	ClinGen TOPMed
CA338680956 rs1015313770	466	D>A		No	TOPMed gnomAD ClinGen
rs1015313770 CA17656999	466	D>V		No	ClinGen TOPMed gnomAD
rs1213112143 CA338680968	468	E>G		No	gnomAD ClinGen
rs962710521 CA17657000	468	E>K		No	TOPMed gnomAD ClinGen
CA17657001 rs973724789	470	S>G		No	TOPMed ClinGen
rs1437577079 CA338680989	471	H>R		No	TOPMed ClinGen
CA338680998 rs1446510063	472	C>F		No	ClinGen TOPMed gnomAD
CA338680995 rs1258227204	472	C>G		No	TOPMed gnomAD ClinGen
CA338680994 rs1258227204	472	C>R		No	TOPMed gnomAD ClinGen
CA338681010 rs1187311342	474	C>Y		No	TOPMed ClinGen
CA338681018 rs9328937	475	C>S		No	ClinGen 1000Genomes TOPMed gnomAD

No associated diseases with Q5VXH5

6 regional properties for Q5VXH5

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	16 - 268	IPR000719
active_site	Serine/threonine-protein kinase, active site	135 - 147	IPR008271
binding_site	Protein kinase, ATP binding site	22 - 45	IPR017441
domain	PRKAA2, UBA-like autoinhibitory domain	285 - 349	IPR028783
domain	AMPK, C-terminal adenylate sensor domain	401 - 479	IPR032270
domain	5'-AMP-activated protein kinase catalytic subunit alpha-2, C-terminal	395 - 550	IPR039148

Functions

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

1 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name	Definition
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of cell differentiation.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5VXH5	PRAMEF7	PRAME family member 7	Homo sapiens (Human)	PR
Q5VWM4	PRAMEF8	PRAME family member 8	Homo sapiens (Human)	PR

10	20	30	40	50	60
MSIRAPPRLL	ELARQRLLRD	QALAISTMEE	LPRELFPTLF	MEAFSRRRCE	TLKTMVQAWP
70	80	90	100	110	120
FTRLPLGSLM	KSPHLESLKS	VLEGVDVLLT	QEVRPRQSKL	QVLDLRNVDE	NFCDIFSGAT
130	140	150	160	170	180
ASFPEALSQK	QTADNCPGTG	RQQPFMVFID	LCLKNRTLDE	CLTHLLEWGK	QRKGLLHVCC
190	200	210	220	230	240
KELQVFGMPI	HSIIEVLNMV	ELDCIQEVEV	CCPWELSTLV	KFAPYLGQMR	NLRKLVLFNI
250	260	270	280	290	300
RASACIPPDN	KGQFIARFTS	QFLKLDYFQN	LSMHSVSFLE	GHLDQLLRCL	QASLEMVVMT
310	320	330	340	350	360
DCLLSESDLK	HLSWCPSIRQ	LKELDLRGVT	LTHFSPEPLT	GLLEQAVATL	QTLDLEDCGI
370	380	390	400	410	420
MDSQLSAILP	VLSRCSQLST	FSFCGNLISM	AALENLLRHT	VGLSKLSLEL	YPAPLESYDT
430	440	450	460	470
QGALCWGRFA	ELGAELMNTL	RDLRQPKIIV	FCTVPCPRCG	IRASYDLEPS	HCLC