AiPD: Autoinhibited Protein Database

Q96S44

Gene name	TP53RK
Protein name	EKC/KEOPS complex subunit TP53RK
Names	Atypical serine/threonine protein kinase TP53RK, Nori-2, TP53-regulating kinase, p53-related protein kinase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:112858
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)

1-49 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-49 (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

6 structures for Q96S44

Entry ID	Method	Resolution	Chain	Position	Source
6WQX	X-ray	253 A	C/D	1-253	PDB
7SZA	X-ray	190 A	A/C	1-253	PDB
7SZB	X-ray	202 A	A/C	1-253	PDB
7SZC	X-ray	171 A	A/C	1-253	PDB
7SZD	X-ray	205 A	A/C	1-253	PDB
AF-Q96S44-F1	Predicted				AlphaFoldDB

238 variants for Q96S44

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV002489515 RCV001252762 rs774069989	6	A>missing	Galloway-Mowat syndrome 4 Microcephaly [ClinVar]	Yes	ClinVar dbSNP
rs773814837 CA409258817 RCV000513023 VAR_080371	42	G>D	Galloway-Mowat syndrome 4 GAMOS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA315726711 RCV001003631 rs886913294	43	A>V	Global developmental delay [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1431526147 RCV000513210	60	K>missing	Galloway-Mowat syndrome 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000513568 VAR_080372 CA409258575 rs1432218739	81	T>R	Galloway-Mowat syndrome 4 GAMOS4; abolished interaction with TPRKB [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA9891808 RCV001334428 rs45570735	113	M>V	Galloway-Mowat syndrome 4 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000900183 CA9891792 rs56008408 RCV002495446 VAR_041882	145	T>A	Galloway-Mowat syndrome 4 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs200921554 CA9891772 COSM478236 RCV001334430	182	I>V	kidney Galloway-Mowat syndrome 4 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2063182741 RCV001330234	200	L>V	Galloway-Mowat syndrome 4 [ClinVar]	Yes	ClinVar dbSNP
RCV001003630 CA9891746 RCV002549220 rs553547069 RCV002221597	243	R>C	Global developmental delay Galloway-Mowat syndrome 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_080373 RCV000513223 CA409269086 rs776588426	243	R>L	Galloway-Mowat syndrome 4 GAMOS4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs757587369 CA9891877	2	A>E		No	ClinGen ExAC TOPMed gnomAD
CA409259049 rs757587369	2	A>V		No	ClinGen ExAC TOPMed gnomAD
rs777970200 CA409259044	3	A>G		No	ClinGen ExAC gnomAD
CA9891875 rs777970200	3	A>V		No	ClinGen ExAC gnomAD
CA409259042 rs1450656312	4	A>T		No	ClinGen gnomAD
rs372539814 CA9891874	4	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1025683425 CA315726989	5	R>G		No	ClinGen TOPMed
rs767139349 CA9891872	5	R>T		No	ClinGen ExAC gnomAD
rs540226060 CA315726945	6	A>D		No	ClinGen 1000Genomes ExAC
CA409259031 rs540226060	6	A>G		No	ClinGen 1000Genomes ExAC
rs751472539 CA9891870	6	A>P		No	ClinGen ExAC TOPMed gnomAD
rs751472539 CA9891871	6	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9891869 rs540226060	6	A>V		No	ClinGen 1000Genomes ExAC
TCGA novel	7	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409259027 rs1170387437	7	T>S		No	ClinGen gnomAD
rs762765592 CA409259024	8	T>A		No	ClinGen ExAC gnomAD
CA9891866 rs113419087 RCV000890416	8	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs762765592 CA9891867	8	T>P		No	ClinGen ExAC gnomAD
rs1473663579 CA409259019	9	P>A		No	ClinGen TOPMed gnomAD
rs956883915 CA315726918	9	P>L		No	ClinGen gnomAD
rs1473663579 CA409259018	9	P>S		No	ClinGen TOPMed gnomAD
rs760896863 CA9891864	10	A>S		No	ClinGen ExAC gnomAD
CA9891863 rs775626954	10	A>V		No	ClinGen ExAC gnomAD
CA9891861 rs745915184	11	D>E		No	ClinGen ExAC TOPMed gnomAD
rs200981640 CA9891860	12	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200981640 CA9891859	12	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1321785132 CA409258999	13	E>*		No	ClinGen gnomAD
rs542718885 CA9891857	14	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747833775 CA9891855	15	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747833775 CA315726803	15	P>R		No	ClinGen ExAC TOPMed gnomAD
rs756489681 CA9891856	15	P>S		No	ClinGen ExAC gnomAD
CA409258977 rs1361919704	16	A>V		No	ClinGen TOPMed gnomAD
CA9891853 TCGA novel rs754653569	17	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA409258970 rs1165407069	18	E>Q		No	ClinGen gnomAD
CA409258930 rs1254269349	24	A>T		No	ClinGen gnomAD
TCGA novel	25	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9891850 rs758415773	25	A>S		No	ClinGen ExAC gnomAD
VAR_014427	25	A>T		No	UniProt
CA9891847 rs761561027	26	R>W		No	ClinGen ExAC TOPMed gnomAD
CA409258917 rs1267622626	27	E>K		No	ClinGen TOPMed
rs775714809 CA9891846	28	R>L		No	ClinGen ExAC gnomAD
rs1419726636 CA409258905	29	S>G		No	ClinGen TOPMed
rs1229432298 CA409258901	29	S>T		No	ClinGen gnomAD
rs759647587 CA9891843	31	R>G		No	ClinGen ExAC TOPMed gnomAD
rs774558255 CA9891842	31	R>L		No	ClinGen ExAC gnomAD
rs759647587 CA409258888	31	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1388733208 CA409258876	33	L>V		No	ClinGen gnomAD
CA9891841 rs770901961	34	S>R		No	ClinGen ExAC TOPMed gnomAD
CA409258862 rs1438589758	35	G>S		No	ClinGen gnomAD
TCGA novel	38	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs80207840 CA315726716 CA409258838	39	V>L		No	ClinGen gnomAD
CA315726714 rs943975048	40	K>*		No	ClinGen Ensembl
CA315726712 rs112762349	41	Q>P		No	ClinGen Ensembl
CA409258819 rs1369459077	42	G>S		No	ClinGen TOPMed
rs773814837 CA9891839	42	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	44	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs927085371 CA409258799	45	A>E		No	ClinGen TOPMed gnomAD
rs927085371 CA315726705	45	A>G		No	ClinGen TOPMed gnomAD
rs755200975 CA315726709	45	A>T		No	ClinGen Ensembl
rs927085371 CA409258800	45	A>V		No	ClinGen TOPMed gnomAD
rs531398951 CA315726703	46	R>G		No	ClinGen gnomAD
CA409258798 rs531398951	46	R>S		No	ClinGen gnomAD
rs1246661367 CA409258792	47	V>M		No	ClinGen gnomAD
CA9891837 rs748570199	49	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1226256476 CA409258775	49	R>L		No	ClinGen gnomAD
rs948101601 CA315726656	51	R>G		No	ClinGen TOPMed
rs556703444 CA409258766	51	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556703444 CA9891836	51	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1365331134 CA409258757	52	F>L		No	ClinGen gnomAD
rs1302585317 CA409258754	53	Q>*		No	ClinGen TOPMed gnomAD
CA409258752 rs1266448119	53	Q>R		No	ClinGen TOPMed
rs1427826630 CA409258748	54	G>R		No	ClinGen gnomAD
CA409258740 rs1435534871	55	R>C		No	ClinGen TOPMed gnomAD
CA409258741 rs1435534871 RCV000762349	55	R>G		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA409258734 rs1237153226	56	A>G		No	ClinGen TOPMed
CA9891835 rs754723667	56	A>P		No	ClinGen ExAC TOPMed gnomAD
CA409258732 rs1237153226	56	A>V		No	ClinGen TOPMed
rs1451337186 CA409258722	58	V>A		No	ClinGen TOPMed gnomAD
rs1451337186 CA409258721	58	V>G		No	ClinGen TOPMed gnomAD
RCV000882966 CA9891834 rs568244503	58	V>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA409258719 rs1410980626	59	I>V		No	ClinGen TOPMed
TCGA novel	60	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409258702 rs1394936725	61	H>R		No	ClinGen gnomAD
rs1248738356 CA409258695	62	R>C		No	ClinGen gnomAD
rs750395029 CA9891831	62	R>H		No	ClinGen ExAC gnomAD
CA409258679 rs1485319662	64	P>L		No	ClinGen gnomAD
CA409258682 rs1568972563	64	P>S		No	ClinGen Ensembl
CA409258677 rs1568972559	65	K>E		No	ClinGen Ensembl
rs748123388 CA409258674	65	K>M		No	ClinGen ExAC gnomAD
CA9891829 rs748123388	65	K>R		No	ClinGen ExAC gnomAD
CA409258668 rs1211529991	66	G>D		No	ClinGen gnomAD
CA409258658 rs1351453096	67	Y>*		No	ClinGen TOPMed
CA409258655 rs1309995008	68	R>Q		No	ClinGen gnomAD
CA409258651 rs1229114772	69	H>D		No	ClinGen gnomAD
CA409258639 rs1367053804	70	P>L		No	ClinGen gnomAD
CA409258643 rs1463821756	70	P>S		No	ClinGen TOPMed
CA409258634 rs1329597789	71	A>G		No	ClinGen TOPMed
rs1295074440 CA409258614	74	A>V		No	ClinGen gnomAD
rs1381460993 CA409258609	75	R>Q		No	ClinGen gnomAD
CA409258600 rs1380089687	77	G>S		No	ClinGen gnomAD
rs1304815614 CA409258587	79	R>Q		No	ClinGen gnomAD
CA409258584 rs1374990300	80	R>G		No	ClinGen TOPMed gnomAD
rs1169763191 CA409258579	81	T>A		No	ClinGen gnomAD
CA409258576 rs1432218739	81	T>K		No	ClinGen gnomAD
CA409258574 rs1432218739	81	T>M		No	ClinGen gnomAD
rs1192846036 CA409258563	83	Q>R		No	ClinGen TOPMed gnomAD
rs1424760435 CA409258553	84	E>D		No	ClinGen gnomAD
CA409258547 rs1256411084	85	A>V		No	ClinGen TOPMed gnomAD
rs923967363 CA409258539	87	A>S		No	ClinGen TOPMed gnomAD
rs923967363 CA315726625	87	A>T		No	ClinGen TOPMed gnomAD
CA409258527 rs1484391156	89	L>F		No	ClinGen gnomAD
CA9891826 rs763873209	93	R>C		No	ClinGen ExAC TOPMed gnomAD
CA315726620 rs763873209	93	R>G		No	ClinGen ExAC TOPMed gnomAD
CA315726610 rs979633803	93	R>L		No	ClinGen Ensembl
CA409258485 rs1568972507	94	A>S		No	ClinGen Ensembl
rs1216839008 CA409258470	95	G>R		No	ClinGen gnomAD
CA409271216 rs1237109848	96	I>M		No	ClinGen TOPMed
CA409271189 rs1182194866	97	S>Y		No	ClinGen gnomAD
rs1248322419 CA409271135	99	P>A		No	ClinGen gnomAD
CA409271123 rs1430396787	99	P>R		No	ClinGen gnomAD
rs369690944 CA9891814	100	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1267038690 CA409271047	101	V>F		No	ClinGen gnomAD
rs1231266512 CA409270990	104	V>L		No	ClinGen gnomAD
CA9891813 rs148722672	106	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148722672 CA409270971	106	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9891811 rs148722672	106	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs548440276 CA315759167	107	A>S		No	ClinGen gnomAD
rs1263315495 CA409270959	108	S>P		No	ClinGen TOPMed
CA9891810 rs771638240	109	N>S		No	ClinGen ExAC TOPMed gnomAD
CA409270938 rs1387898865	110	C>*		No	ClinGen TOPMed gnomAD
CA9891809 rs745434503	110	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA409270932 rs1455562419	111	L>S		No	ClinGen TOPMed
CA409270924 rs1292100340	112	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA315759145 rs948899461	112	Y>H		No	ClinGen TOPMed gnomAD
CA9891806 rs753763955	113	M>I		No	ClinGen ExAC gnomAD
CA9891807 rs532864581	113	M>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	115	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777637012 CA9891805	115	E>G		No	ClinGen ExAC gnomAD
CA409270894 rs1406282542	116	I>F		No	ClinGen TOPMed gnomAD
rs1438982629 CA409270885	117	E>*		No	ClinGen TOPMed
CA9891804 rs755798850	119	S>P		No	ClinGen ExAC gnomAD
rs964818155 CA315759118	120	V>M		No	ClinGen TOPMed
rs751828263 CA9891803	122	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1211533115 CA409270843	123	R>*		No	ClinGen TOPMed gnomAD
rs34983477 VAR_041881 CA9891802	123	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA409270835 rs1262847372	124	D>G		No	ClinGen TOPMed
rs1480475523 CA409270822	126	I>V		No	ClinGen gnomAD
rs763202340 CA9891801	127	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs11550540 CA9891800 VAR_030870	129	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA409270795 rs1600643709	130	M>T		No	ClinGen Ensembl
CA9891799 rs528622355	130	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9891798 rs61729174 RCV000958071	135	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs777207968 CA9891797	136	P>A		No	ClinGen ExAC TOPMed gnomAD
rs769092427 CA9891796	140	S>F		No	ClinGen ExAC gnomAD
COSM277768 CA409270650 rs1379290692	152	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA409270648 rs149404267	152	R>L		No	ClinGen ESP TOPMed gnomAD
CA315759038 rs149404267 COSM3423695	152	R>Q	large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
TCGA novel	153	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409270633 rs1460119601	154	H>R		No	ClinGen TOPMed
CA409270627 rs1323031277	155	D>G		No	ClinGen TOPMed gnomAD
CA409270630 rs749230227	155	D>H		No	ClinGen ExAC TOPMed gnomAD
CA9891789 rs749230227	155	D>N		No	ClinGen ExAC TOPMed gnomAD
CA315759024 rs985927085	158	L>F		No	ClinGen TOPMed
CA9891788 rs777533820	160	H>R		No	ClinGen ExAC TOPMed gnomAD
CA409270555 rs1445443270	163	L>P		No	ClinGen TOPMed gnomAD
CA409270523 rs1201041350	165	T>I		No	ClinGen gnomAD
rs752473080 CA9891786	166	S>T		No	ClinGen ExAC gnomAD
CA9891785 rs781036338	168	M>L		No	ClinGen ExAC gnomAD
CA9891784 rs138867729	169	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9891783 rs750611965	171	K>I		No	ClinGen ExAC gnomAD
CA9891782 rs761941095	172	P>A		No	ClinGen ExAC gnomAD
CA9891781 rs761941095	172	P>S		No	ClinGen ExAC gnomAD
rs1324265398 CA409270405	173	P>A		No	ClinGen gnomAD
CA409270403 rs1324265398	173	P>S		No	ClinGen gnomAD
CA9891778 rs766808581	174	L>Q		No	ClinGen ExAC TOPMed
rs775789307 CA409270337	176	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs775789307 CA9891774	176	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA409270280 rs1433980467	178	N>K		No	ClinGen gnomAD
rs1364941339 CA409270288	178	N>T		No	ClinGen gnomAD
CA9891773 rs767911110	179	I>M		No	ClinGen ExAC gnomAD
CA409270270 rs1190202591	179	I>T		No	ClinGen gnomAD
CA409270274 rs1390733822	179	I>V		No	ClinGen gnomAD
rs200921554 CA409270212	182	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1568971920 CA409270198	182	I>T		No	ClinGen Ensembl
rs1374260361 CA409270140	184	F>V		No	ClinGen gnomAD
rs1210299205 CA409270103	186	L>M		No	ClinGen gnomAD
rs1165730747 CA409270094	186	L>P		No	ClinGen gnomAD
CA409270087 rs1568971909	187	S>G		No	ClinGen Ensembl
rs1418768716 CA409270080	187	S>N		No	ClinGen TOPMed
CA9891769 rs770461591	188	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA409269969 rs1568971896	193	P>R		No	ClinGen Ensembl
CA409269977 rs1339198895	193	P>S		No	ClinGen TOPMed gnomAD
CA9891767 rs772745589	194	E>*		No	ClinGen ExAC gnomAD
TCGA novel	199	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413642589 CA409269830	200	L>R		No	ClinGen TOPMed gnomAD
rs769686341 CA9891765	201	Y>C		No	ClinGen ExAC gnomAD
rs888692560 CA315758868	201	Y>H		No	ClinGen TOPMed
rs769686341 CA315758862	201	Y>S		No	ClinGen ExAC gnomAD
CA409269624 rs1164020767	210	T>I		No	ClinGen gnomAD
CA9891762 rs754749451	213	N>D		No	ClinGen ExAC gnomAD
CA9891761 rs746121007	214	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1294278409 CA409269513	215	E>D		No	ClinGen TOPMed
rs1187242979 CA409269526	215	E>K		No	ClinGen gnomAD
rs779224615 CA9891760	216	T>I		No	ClinGen ExAC gnomAD
rs757533564 CA9891759	217	V>G		No	ClinGen ExAC gnomAD
rs753907842 CA9891757	219	E>K		No	ClinGen ExAC gnomAD
rs1380976197 CA409269405	220	A>G		No	ClinGen TOPMed
rs756641225 CA9891755	221	F>I		No	ClinGen ExAC gnomAD
rs756641225 CA9891756	221	F>L		No	ClinGen ExAC gnomAD
rs14872 CA315758808	222	L>M		No	ClinGen Ensembl
rs1555885593 CA409269348	224	S>N		No	ClinGen Ensembl
CA409269294 rs1486437836	226	S>F		No	ClinGen Ensembl
TCGA novel	227	T>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9891753 rs767873120	227	T>I		No	ClinGen ExAC gnomAD
rs759856429 CA9891752	230	K>Q		No	ClinGen ExAC gnomAD
rs1232144811 CA409269243	230	K>T		No	ClinGen gnomAD
rs774016278 CA9891751	232	A>T		No	ClinGen ExAC gnomAD
rs766058573 CA9891750	234	P>L		No	ClinGen ExAC gnomAD
CA9891748 rs772654772	235	V>E		No	ClinGen ExAC
CA409269176 rs1294296077	236	L>P		No	ClinGen TOPMed
rs1013176758 CA315758774	240	D>A		No	ClinGen TOPMed gnomAD
CA9891745 rs776588426	243	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1211399912 CA409269006	250	S>P		No	ClinGen TOPMed
CA409268988 rs1259347733	251	M>T		No	ClinGen TOPMed
rs768590736 CA9891744	251	M>V		No	ClinGen ExAC gnomAD
rs964483765 CA315758744	252	V>A		No	ClinGen Ensembl
CA9891743 rs746853072	254	G>Q		No	ClinGen ExAC TOPMed gnomAD

1 associated diseases with Q96S44

[MIM: 617730]: Galloway-Mowat syndrome 4 (GAMOS4)

A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. {ECO:0000269|PubMed:28805828}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. {ECO:0000269|PubMed:28805828}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q96S44

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	33 - 253	IPR000719
active_site	Tyrosine-protein kinase, active site	158 - 170	IPR008266

Functions

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

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
EKC/KEOPS complex	A protein complex involved in t6A tRNA modification. For example, in Saccharomyces cerevisiae the complex contains Bud32p, Kae1p, Gon7p, Cgi121p, and Pcc1p.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
hydrolase activity	Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc.
p53 binding	Binding to one of the p53 family of proteins.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

4 GO annotations of biological process

Name	Definition
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of signal transduction by p53 class mediator	Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator.
tRNA processing	The process in which a pre-tRNA molecule is converted to a mature tRNA, ready for addition of an aminoacyl group.
tRNA threonylcarbamoyladenosine metabolic process	The chemical reactions and pathways involving tRNA threonylcarbamoyladenosine, a modified nucleoside found in some tRNA molecules.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAAARATTPA	DGEEPAPEAE	ALAAARERSS	RFLSGLELVK	QGAEARVFRG	RFQGRAAVIK
70	80	90	100	110	120
HRFPKGYRHP	ALEARLGRRR	TVQEARALLR	CRRAGISAPV	VFFVDYASNC	LYMEEIEGSV
130	140	150	160	170	180
TVRDYIQSTM	ETEKTPQGLS	NLAKTIGQVL	ARMHDEDLIH	GDLTTSNMLL	KPPLEQLNIV
190	200	210	220	230	240
LIDFGLSFIS	ALPEDKGVDL	YVLEKAFLST	HPNTETVFEA	FLKSYSTSSK	KARPVLKKLD
250
EVRLRGRKRS	MVG