AiPD: Autoinhibited Protein Database

Q96B36

Gene name	AKT1S1
Protein name	Proline-rich AKT1 substrate 1
Names	40 kDa proline-rich AKT substrate
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84335
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-141 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-141 (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

5 structures for Q96B36

Entry ID	Method	Resolution	Chain	Position	Source
5WBL	X-ray	335 A	T	124-139	PDB
5WBU	X-ray	342 A	O/P/Q/R	173-256	PDB
5WBY	X-ray	310 A	O/P	114-207	PDB
6SB0	EM	550 A	O/T	1-256	PDB
AF-Q96B36-F1	Predicted				AlphaFoldDB

256 variants for Q96B36

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1399582789 CA406899222	2	A>S		No	ClinGen gnomAD
CA406899220 rs1341380427	2	A>V		No	ClinGen gnomAD
CA9587377 rs750334898	3	S>L		No	ClinGen ExAC TOPMed gnomAD
CA406899192 rs1568668304	5	R>C		No	ClinGen Ensembl
rs757177649 CA9587375	5	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1468057570 CA406899182	6	P>L		No	ClinGen gnomAD
CA309511569 rs942975679	6	P>S		No	ClinGen TOPMed
CA406899179 rs1600433181	7	E>A		No	ClinGen Ensembl
CA9587374 rs528045149 COSM397032	7	E>K	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1053233473 CA309511550	9	L>P		No	ClinGen TOPMed
rs1600433166 CA406899156	10	W>*		No	ClinGen Ensembl
CA309511547 rs934343046	11	E>A		No	ClinGen Ensembl
CA309511542 rs113383820	12	A>G		No	ClinGen Ensembl
rs764454633 CA9587373	12	A>T		No	ClinGen ExAC gnomAD
rs752918967 CA9587371	13	V>M		No	ClinGen ExAC gnomAD
rs970350587 CA309511537	17	A>T		No	ClinGen TOPMed gnomAD
CA406899111 rs1256176771	18	E>*		No	ClinGen gnomAD
rs774892718 CA9587368	19	R>C		No	ClinGen ExAC TOPMed gnomAD
CA406899103 rs1318763544	19	R>H		No	ClinGen gnomAD
CA9587366 rs763346878	21	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771402140 CA9587367	21	R>W		No	ClinGen ExAC gnomAD
rs373287055 CA9587365	23	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1335300230 CA406899082	23	R>W		No	ClinGen gnomAD
rs980474512 CA309511520	24	T>I		No	ClinGen TOPMed
rs1398742550 CA406899071	25	G>D		No	ClinGen gnomAD
rs770093794 CA406899064	26	T>K		No	ClinGen ExAC TOPMed gnomAD
rs770093794 CA9587364	26	T>M		No	ClinGen ExAC TOPMed gnomAD
rs779692386 CA9587362	27	E>D		No	ClinGen ExAC gnomAD
CA406899055 rs1472281479	28	L>V		No	ClinGen gnomAD
rs1189382926 CA406899029	32	T>I		No	ClinGen TOPMed gnomAD
rs1189382926 CA406899030	32	T>S		No	ClinGen TOPMed gnomAD
rs779044396 CA9587359	33	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1199244164 CA406899024	33	A>V		No	ClinGen gnomAD
CA406899012 rs1208237794	35	P>L		No	ClinGen gnomAD
CA406899015 rs1275240534	35	P>S		No	ClinGen gnomAD
CA309511424 rs892333877	36	P>L		No	ClinGen TOPMed gnomAD
CA406898994 rs1309144526	39	P>T		No	ClinGen TOPMed gnomAD
rs1448221112 CA406898986	40	R>C		No	ClinGen TOPMed gnomAD
rs752926758 CA9587353	40	R>H		No	ClinGen ExAC TOPMed gnomAD
CA406898984 rs752926758	40	R>L		No	ClinGen ExAC TOPMed gnomAD
rs767765032 CA9587352	41	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751606869 CA9587350	43	P>S		No	ClinGen ExAC gnomAD
CA406898958 rs1411953885	45	A>P		No	ClinGen TOPMed
CA9587349 rs766406368	46	Y>C		No	ClinGen ExAC gnomAD
rs1177617371 CA406898944	47	A>G		No	ClinGen TOPMed
CA309511361 VAR_028239 rs17850191	47	A>P		No	ClinGen UniProt Ensembl dbSNP
rs901245546 CA309511360	49	H>R		No	ClinGen TOPMed
rs1379494961 CA406898934	49	H>Y		No	ClinGen gnomAD
COSM296150 CA406898921 rs1179130583	51	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs773649153 CA9587347	51	R>L		No	ClinGen ExAC TOPMed gnomAD
rs773649153 CA9587348	51	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	52	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406898913 rs1234612818	53	A>T		No	ClinGen gnomAD
TCGA novel	54	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA309511326 rs372391123	55	A>V		No	ClinGen ESP TOPMed gnomAD
CA309511310 rs112614205	57	A>P		No	ClinGen Ensembl
CA9587345 rs375398248	58	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9587344 rs575620933	59	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA9587342 rs372336886	60	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs372336886 CA406898873	60	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9587341 rs368332135	60	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA406898871 rs368332135	60	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs934351252 CA309511259	61	C>*		No	ClinGen Ensembl
CA9587340 rs770520644	61	C>Y		No	ClinGen ExAC TOPMed
rs749255257 CA9587339	63	H>R		No	ClinGen ExAC TOPMed gnomAD
CA406898845 rs948625349	64	D>E		No	ClinGen TOPMed gnomAD
rs755915845 CA9587337	64	D>N		No	ClinGen ExAC gnomAD
CA406898836 rs918799688	66	A>S		No	ClinGen TOPMed gnomAD
CA309511197 rs918799688	66	A>T		No	ClinGen TOPMed gnomAD
CA406898833 rs1427507543	66	A>V		No	ClinGen TOPMed
rs1477727267 CA406898830	67	L>P		No	ClinGen gnomAD
CA9587334 rs755258101	68	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1269746832 CA406898825	68	A>T		No	ClinGen gnomAD
rs1262851791 CA406898811	70	R>K		No	ClinGen gnomAD
rs1217818848 CA406898808	70	R>S		No	ClinGen TOPMed gnomAD
CA406898806 rs1319179152	71	A>P		No	ClinGen gnomAD
rs1277090538 CA406898796	72	A>V		No	ClinGen gnomAD
rs1219196366 CA406898787	74	A>S		No	ClinGen gnomAD
rs938818332 CA309511193	74	A>V		No	ClinGen TOPMed gnomAD
rs1284669457 CA406898784	75	A>T		No	ClinGen gnomAD
rs746829615 CA309511187	76	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200711550 CA9587332	76	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9587333 rs746829615	76	R>W		No	ClinGen ExAC TOPMed gnomAD
CA406898767 rs1344595786	78	P>L		No	ClinGen TOPMed
rs1298502955 CA406898769	78	P>S		No	ClinGen gnomAD
CA309511182 rs951840676	79	A>P		No	ClinGen Ensembl
rs199876698 CA9587331	79	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9587328 rs762134795	80	P>S		No	ClinGen ExAC gnomAD
CA406898755 rs1415004186	81	P>A		No	ClinGen gnomAD
CA406898750 rs1430017307	81	P>L		No	ClinGen TOPMed gnomAD
CA406898752 rs1430017307	81	P>Q		No	ClinGen TOPMed gnomAD
rs1430017307 CA406898751	81	P>R		No	ClinGen TOPMed gnomAD
rs966499865 CA309511160	85	Q>*		No	ClinGen TOPMed
CA9587327 rs201911037	86	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376054064 CA9587325	88	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs956603939 CA309511152	88	S>N		No	ClinGen TOPMed
rs376054064 CA9587326	88	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA406898697 rs1423181239	90	T>I		No	ClinGen gnomAD
rs1414213615 CA406898679	93	P>Q		No	ClinGen TOPMed
CA9587321 rs769737259	95	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9587320 rs769737259	95	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9587322 rs377525343	95	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA406898663 rs1264387642	96	P>L		No	ClinGen gnomAD
rs781061080 CA9587318	97	T>A		No	ClinGen ExAC gnomAD
TCGA novel	97	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406898654 rs1216003142	98	L>P		No	ClinGen gnomAD
rs768382052 CA406898649	99	A>D		No	ClinGen ExAC TOPMed gnomAD
rs768382052 CA9587317	99	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1267123770 CA406898634	101	E>D		No	ClinGen gnomAD
CA9587316 rs747235827	103	N>D		No	ClinGen ExAC gnomAD
COSM1244793 CA9587314 rs571029345	104	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs571029345 CA406898616	104	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406898604 rs1329314633	105	E>D		No	ClinGen TOPMed gnomAD
rs779330190 CA406898596	106	D>E		No	ClinGen ExAC TOPMed gnomAD
rs149367630 CA9587313	106	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149367630 CA406898601	106	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9587311 rs757816767	107	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1430541932 CA406898563	111	T>K		No	ClinGen gnomAD
TCGA novel	114	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs528121686 CA9587310	114	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs138784716 CA9587309	115	T>I		No	ClinGen ESP ExAC gnomAD
rs200993018 CA9587305	117	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406898477 rs1251416457	119	Q>L		No	ClinGen gnomAD
CA406898461 rs1319567775	121	G>C		No	ClinGen TOPMed gnomAD
rs1319567775 CA406898462	121	G>S		No	ClinGen TOPMed gnomAD
CA9587301 rs199854755	122	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772806947 CA9587302	122	I>V		No	ClinGen ExAC gnomAD
rs1306965482 CA406898440	123	S>N		No	ClinGen gnomAD
rs1445989040 CA406898414	125	N>S		No	ClinGen gnomAD
rs1376185542 CA406898406	126	G>R		No	ClinGen TOPMed gnomAD
rs375809091 CA9587275	129	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA309509811 rs371913641	130	V>A		No	ClinGen ESP TOPMed gnomAD
CA406897738 rs371913641	130	V>E		No	ClinGen ESP TOPMed gnomAD
CA406897740 rs1310477818	130	V>M		No	ClinGen TOPMed gnomAD
CA406897691 rs1224294478	133	E>G		No	ClinGen gnomAD
rs1437613848 CA406897697	133	E>K		No	ClinGen TOPMed gnomAD
CA9587273 rs138502258	135	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9587272 rs756718257	136	T>I		No	ClinGen ExAC gnomAD
TCGA novel	138	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406897615 rs1291116818	140	L>P		No	ClinGen gnomAD
CA9587270 rs781699220	141	P>H		No	ClinGen ExAC TOPMed gnomAD
rs748613234 CA9587271	141	P>S		No	ClinGen ExAC TOPMed gnomAD
rs748613234 CA309509786	141	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9587268 rs200662721	142	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9587267 rs200662721	142	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9587269 rs376138768	142	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9587262 rs763556795	147	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1482894480 CA406897507	148	P>S		No	ClinGen gnomAD
COSM1526078 rs775351244 CA9587260	149	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs920374007 CA309509717	150	S>N		No	ClinGen TOPMed gnomAD
rs371496432 CA9587259	151	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1327353243 CA406897436	153	D>H		No	ClinGen gnomAD
rs1438520423 CA406897362	154	G>D		No	ClinGen gnomAD
CA406897347 rs1275349409	155	S>I		No	ClinGen gnomAD
rs1292987031 CA406897310	158	E>K		No	ClinGen TOPMed gnomAD
CA406897314 rs1292987031	158	E>Q		No	ClinGen TOPMed gnomAD
rs200278700 CA309509507	160	T>N		No	ClinGen TOPMed gnomAD
rs1600430686 CA406897274	160	T>P		No	ClinGen Ensembl
rs777401647 CA9587228	161	P>S		No	ClinGen ExAC TOPMed gnomAD
rs201574936 CA9587226	162	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1052068 CA309509498	162	A>V		No	ClinGen Ensembl
rs754890149 CA406897233	163	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754890149 CA9587224	163	G>D		No	ClinGen ExAC TOPMed gnomAD
CA406897241 rs1403989698	163	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA406897229 rs754890149	163	G>V		No	ClinGen ExAC TOPMed gnomAD
CA406897210 rs1369906841	164	P>L		No	ClinGen gnomAD
CA406897220 rs1417697974	164	P>T		No	ClinGen gnomAD
CA406897187 rs1407162373	165	P>R		No	ClinGen gnomAD
rs1486341518 CA406897193	165	P>S		No	ClinGen TOPMed
CA309509441 rs920112152	166	T>A		No	ClinGen TOPMed
rs748776119	166	T>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1470542095 CA406897157	167	C>R		No	ClinGen gnomAD
TCGA novel	167	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9587218 rs750730624	168	S>L		No	ClinGen ExAC gnomAD
CA406897134 rs1234697325	168	S>P		No	ClinGen gnomAD
CA9587216 rs376815969	170	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs776883063 CA9587215	172	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1163647016 CA406897064	173	S>*		No	ClinGen TOPMed
rs372167925 CA9587214	174	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA406897057 rs1284143140	174	A>V		No	ClinGen gnomAD
CA920127735 rs1568666690	179	Q>PC		No	ClinGen Ensembl
rs1224872663 CA406896983	179	Q>R		No	ClinGen gnomAD
CA9587212 rs776001515	182	K>E		No	ClinGen ExAC gnomAD
rs1304656249 CA406896871	185	P>L		No	ClinGen gnomAD
CA9587210 rs746222390	185	P>S		No	ClinGen ExAC TOPMed gnomAD
rs746222390 CA406896880	185	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9587209 rs777455865	186	V>L		No	ClinGen ExAC
CA9587207 rs747746783	188	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9587205 rs574163502	190	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9587204 rs574163502	190	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377664945 CA9587203	192	G>S		No	ClinGen ESP ExAC gnomAD
CA406896770 rs1259192397	192	G>V		No	ClinGen TOPMed
CA406896764 rs1174386282	193	F>L		No	ClinGen gnomAD
CA406896749 rs1480183862	194	K>E		No	ClinGen gnomAD
CA309509323 rs990097820	195	E>G		No	ClinGen TOPMed
rs752454102 CA9587201	197	R>T		No	ClinGen ExAC TOPMed gnomAD
rs762149334 CA9587199	198	T>I		No	ClinGen ExAC gnomAD
CA9587198 rs754035219	199	E>*		No	ClinGen ExAC gnomAD
CA9587197 COSM1395361 rs142575650	200	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA406896637 rs767993718	201	R>L		No	ClinGen ExAC TOPMed gnomAD
rs767993718 CA9587194	201	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9587195 rs374227857	201	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA406896584 rs1289425731	205	E>*		No	ClinGen gnomAD
rs1179140207 CA406896557	206	E>D		No	ClinGen TOPMed
CA406896571 rs1379597132	206	E>K		No	ClinGen gnomAD
rs759938306 CA9587193	207	N>D		No	ClinGen ExAC
rs199687596	209	P>=	Variant assessed as Somatic; 9.3e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs747800150 CA9587189	209	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747800150 CA9587188	209	P>R		No	ClinGen ExAC TOPMed gnomAD
CA406896514 rs1568666529	209	P>T		No	ClinGen Ensembl
CA406896080 rs934054759	210	P>A		No	ClinGen TOPMed
CA406896079 rs1444680198	210	P>H		No	ClinGen gnomAD
rs934054759 CA309506305	210	P>S		No	ClinGen TOPMed
rs1163359032 CA406896064	211	S>F		No	ClinGen gnomAD
COSM713361 rs1172356384 CA406896052	212	S>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs964298962 CA309506282	213	P>L		No	ClinGen Ensembl
CA406896040 rs1387625211	214	D>N		No	ClinGen gnomAD
CA9587155 rs752116376	215	L>P		No	ClinGen ExAC gnomAD
CA406896003 rs1489721564	216	D>E		No	ClinGen gnomAD
rs1178534298 CA406896015	216	D>N		No	ClinGen gnomAD
CA406895997 rs1568665803	217	R>C		No	ClinGen Ensembl
rs1267840484 CA406895995	217	R>H		No	ClinGen TOPMed gnomAD
rs1490792045 CA406895952	221	S>G		No	ClinGen gnomAD
CA406895938 rs1434129354	222	M>L		No	ClinGen TOPMed
CA9587153 rs763266763	223	R>H		No	ClinGen ExAC gnomAD
rs760388714 CA406895889	227	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1198279783 CA406895875	229	E>K		No	ClinGen TOPMed
rs866325660 CA309506208	230	A>S		No	ClinGen Ensembl
CA309506199 rs867601491	231	E>*		No	ClinGen Ensembl
rs1405898720 CA406895833	232	D>N		No	ClinGen gnomAD
rs1274133967 CA406895822	232	D>V		No	ClinGen TOPMed
CA9587148 rs759110134	233	T>A		No	ClinGen ExAC TOPMed gnomAD
CA406895813 rs1287580157	233	T>N		No	ClinGen gnomAD
rs759110134 CA9587147	233	T>S		No	ClinGen ExAC TOPMed gnomAD
rs373953482 CA9587145	234	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406895727 rs1246692662	237	G>A		No	ClinGen TOPMed
rs1160670478 CA406895734	237	G>R		No	ClinGen gnomAD
rs897452947 CA309506134	238	D>A		No	ClinGen Ensembl
rs547130969 CA309506139	238	D>N		No	ClinGen Ensembl
rs777632816 CA9587143	239	L>V		No	ClinGen ExAC TOPMed gnomAD
CA406895654 rs1420876547	241	R>Q		No	ClinGen TOPMed
CA406895662 rs1199763784	241	R>W		No	ClinGen gnomAD
rs370370932 CA9587141	242	P>L		No	ClinGen ESP ExAC gnomAD
rs370370932 CA406895633	242	P>R		No	ClinGen ESP ExAC gnomAD
CA406895618 rs1464728787	243	R>Q		No	ClinGen TOPMed
rs781390299 CA9587140	245	N>K		No	ClinGen ExAC gnomAD
rs1392612025 CA406895586	245	N>T		No	ClinGen TOPMed
rs978688334 CA309506093	245	N>Y		No	ClinGen TOPMed
rs1403454448 CA406895575	246	T>A		No	ClinGen TOPMed
CA406895553 rs1210667396	247	S>N		No	ClinGen gnomAD
rs1321558508 CA406895536	248	D>N		No	ClinGen TOPMed gnomAD
CA9587139 rs755092861	249	F>L		No	ClinGen ExAC gnomAD
rs1333147308 CA406895465	251	K>T		No	ClinGen gnomAD
CA9587138 rs751617368	252	L>Q		No	ClinGen ExAC gnomAD
CA406895411 rs1386294830	254	R>Q		No	ClinGen gnomAD
rs913094214 CA309506018	257	Y>R		No	ClinGen TOPMed

No associated diseases with Q96B36

2 regional properties for Q96B36

Type	Name	Position	InterPro Accession
domain	Thioredoxin domain	27 - 148	IPR013766
conserved_site	Thioredoxin, conserved site	61 - 79	IPR017937

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol	Found in the cytosolic fraction of the brain
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

6 GO annotations of biological process

Name	Definition
negative regulation of cell size	Any process that reduces cell size.
negative regulation of protein kinase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity.
negative regulation of TOR signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of TOR signaling.
neurotrophin TRK receptor signaling pathway	The series of molecular signals initiated by neurotrophin binding to its receptor on the surface of a target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of neuron apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process in neurons.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9D1F4	Akt1s1	Proline-rich AKT1 substrate 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MASGRPEELW	EAVVGAAERF	RARTGTELVL	LTAAPPPPPR	PGPCAYAAHG	RGALAEAARR
70	80	90	100	110	120
CLHDIALAHR	AATAARPPAP	PPAPQPPSPT	PSPPRPTLAR	EDNEEDEDEP	TETETSGEQL
130	140	150	160	170	180
GISDNGGLFV	MDEDATLQDL	PPFCESDPES	TDDGSLSEET	PAGPPTCSVP	PASALPTQQY
190	200	210	220	230	240
AKSLPVSVPV	WGFKEKRTEA	RSSDEENGPP	SSPDLDRIAA	SMRALVLREA	EDTQVFGDLP
250
RPRLNTSDFQ	KLKRKY