AiPD: Autoinhibited Protein Database

P43234

Gene name	CTSO (CTSO1)
Protein name	Cathepsin O
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1519
EC number	3.4.22.42: Cysteine endopeptidases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-134 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-134 (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 P43234

Entry ID	Method	Resolution	Chain	Position	Source
AF-P43234-F1	Predicted				AlphaFoldDB

293 variants for P43234

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1158694877 CA358639109	2	D>E		No	TOPMed gnomAD ClinGen
rs1579352693 CA358639098	4	R>L		No	ClinGen Ensembl
CA109025803 rs1012804643	5	A>T		No	TOPMed ClinGen
CA358639082 rs1273261535	7	P>L		No	ClinGen TOPMed
rs1252413661 CA358639078	8	W>*		No	TOPMed ClinGen
rs1252413661 CA358639076	8	W>L		No	TOPMed ClinGen
rs1035928928 CA109025801	10	P>L		No	ClinGen TOPMed gnomAD
rs1366992070 CA358639049	12	L>R		No	ClinGen TOPMed
CA109025800 rs1013059201	13	L>P		No	ClinGen TOPMed
rs1011294433 CA358639017	18	R>G		No	ClinGen TOPMed gnomAD
rs888748556 CA109025796	18	R>L		No	ClinGen TOPMed
CA358639016 rs1011294433	18	R>W		No	TOPMed gnomAD ClinGen
rs933566988 CA109025794	19	G>A		No	ClinGen TOPMed gnomAD
CA358639010 rs933566988	19	G>D		No	ClinGen TOPMed gnomAD
rs1050054129 CA358639012	19	G>R		No	TOPMed ClinGen
rs1050054129 CA109025795	19	G>S		No	ClinGen TOPMed
rs1411788463 CA358639009	20	G>S		No	gnomAD ClinGen
rs1420294780 CA358639003	21	G>S		No	TOPMed gnomAD ClinGen
CA358638996 rs1172590057	22	D>H		No	ClinGen TOPMed
CA358638995 rs1172590057	22	D>N		No	ClinGen TOPMed
rs1560793301 CA358638986	23	A>E		No	ClinGen Ensembl
rs1465971811 CA358638979	24	D>G		No	TOPMed ClinGen
rs902128830 CA109025793	25	S>F		No	TOPMed ClinGen
CA358638975 rs1579352581	25	S>T		No	Ensembl ClinGen
CA109025792 rs940896175	26	R>H		No	TOPMed ClinGen
CA109025791 rs938408508	27	A>D		No	ClinGen TOPMed gnomAD
CA358638962 rs938408508	27	A>G		No	ClinGen TOPMed gnomAD
CA109025790 rs938408508	27	A>V		No	TOPMed gnomAD ClinGen
CA358638958 rs1336336575	28	P>L		No	gnomAD ClinGen
rs866795763 CA109025788	30	T>N		No	ClinGen TOPMed gnomAD
rs947065360 CA358638938	31	P>Q		No	ClinGen TOPMed gnomAD
CA109025787 rs947065360	31	P>R		No	ClinGen TOPMed gnomAD
CA358638928 rs1327003630	33	W>*		No	gnomAD ClinGen
CA109025786 rs948124104	33	W>C		No	TOPMed ClinGen
CA358638903 rs1211892854	37	R>G		No	ClinGen TOPMed
rs536466515 CA3119322	38	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358638897 rs1255487636	38	E>K		No	TOPMed ClinGen
rs1262496927 CA358638881	40	E>A		No	TOPMed ClinGen
CA358638877 rs1320153203	41	A>T		No	gnomAD ClinGen
rs986025700 CA109025785	42	A>S		No	Ensembl ClinGen
CA358638867 rs1192236899	42	A>V		No	TOPMed ClinGen
CA3119321 rs758644619	43	A>S		No	ClinGen ExAC gnomAD
CA109025784 rs781781958	43	A>V		No	ClinGen TOPMed gnomAD
CA358638853 rs1472502446	45	R>W		No	gnomAD ClinGen
rs1341434648 CA358638830	46	E>D		No	ClinGen gnomAD
rs770679170 CA3119309	46	E>K		No	ClinGen ExAC gnomAD
rs1280942533 CA358638827	47	S>G		No	gnomAD ClinGen
TCGA novel	48	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3119308 rs749245476	51	H>R		No	ExAC gnomAD ClinGen
CA109024594 rs559355629	52	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs376990374 CA358638790	52	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM177375 rs376990374 CA3119307	52	R>Q	Variant assessed as Somatic; 0.0008321 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs769738268 CA3119306	56	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1370543575 CA358638760	57	L>V		No	ClinGen gnomAD
CA358638728 rs1348112742	61	E>G		No	TOPMed ClinGen
TCGA novel	61	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1049401381 CA109024592	62	N>T		No	ClinGen Ensembl
CA358638706 rs1393590675	64	T>I		No	gnomAD ClinGen
CA3119301 rs114862424	65	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3119302 rs114862424	65	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA358638702 rs1219269229	65	A>V		No	TOPMed ClinGen
CA358638689 rs1164128992	67	Y>C		No	ClinGen TOPMed gnomAD
CA3119300 rs757625874	69	I>L		No	ClinGen ExAC gnomAD
rs754231630 CA3119298	72	F>L		No	ExAC gnomAD ClinGen
CA3119297 rs764634611	74	Y>C		No	ExAC TOPMed gnomAD ClinGen
CA358638643 rs1258146191	74	Y>H		No	gnomAD ClinGen
rs767176089 CA3119294	80	F>L		No	ExAC gnomAD ClinGen
CA3119295 rs767176089	80	F>V		No	ClinGen ExAC gnomAD
rs867988308 CA109024589	81	K>R		No	Ensembl ClinGen
CA358638565 rs1284123703	83	I>T		No	gnomAD ClinGen
rs201064754 CA109024524	85	L>S		No	ClinGen 1000Genomes
rs754379370 CA3119273	86	R>K		No	ClinGen ExAC gnomAD
CA358638535 rs1294656597	87	S>R		No	ClinGen TOPMed gnomAD
CA358638523 rs1318156446	89	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
TCGA novel	89	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446343964 CA358638512	91	K>*		No	TOPMed ClinGen
rs1446343964 CA358638513	91	K>E		No	TOPMed ClinGen
CA3119272 rs751093990	91	K>R		No	ClinGen ExAC TOPMed gnomAD
CA109024522 rs1043124628	93	P>A		No	TOPMed ClinGen
CA358638497 rs765900289	93	P>L		No	ClinGen ExAC TOPMed gnomAD
rs765900289 CA3119271	93	P>R		No	ExAC TOPMed gnomAD ClinGen
CA3119270 CA358638490 rs139102003	94	R>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA109024521 rs889114763	96	S>A		No	ClinGen TOPMed
CA109024520 rs915264073	97	A>T		No	TOPMed gnomAD ClinGen
CA358638465 rs1332238930	98	E>D		No	TOPMed ClinGen
CA109024519 rs868759259	99	V>L		No	ClinGen Ensembl
rs772963624 CA3119269	100	H>R		No	ClinGen ExAC TOPMed gnomAD
rs747051008 CA358638450	101	M>L		No	ExAC TOPMed gnomAD ClinGen
CA3119268 rs747051008	101	M>V		No	ClinGen ExAC TOPMed gnomAD
CA109024518 rs954299183	102	S>F		No	gnomAD ClinGen
rs954299183 CA358638440	102	S>Y		No	gnomAD ClinGen
CA358638434 rs1340399307	103	I>T		No	TOPMed ClinGen
CA358638421 rs1579346102	105	N>S		No	Ensembl ClinGen
rs201104392 CA358638398	109	P>A		No	gnomAD ClinGen
rs369505018 CA3119266	109	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA358638397 rs201104392	109	P>S		No	ClinGen gnomAD
rs201104392 CA109024517	109	P>T		No	gnomAD ClinGen
CA358638388 rs1403257470	110	L>F		No	gnomAD ClinGen
CA358638385 rs1364564669	111	R>I		No	ClinGen gnomAD
TCGA novel	114	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771018128 CA3119262	115	R>S		No	ClinGen ExAC gnomAD
CA3119261 rs749560268	116	D>N		No	ExAC TOPMed gnomAD ClinGen
rs1004251363 CA109024515	118	Q>R		No	Ensembl ClinGen
rs778259831 CA3119260	119	V>I		No	ExAC gnomAD ClinGen
rs780291073 CA3119258	120	V>A		No	ExAC TOPMed gnomAD ClinGen
CA3119256 rs781494652	123	V>L		No	ExAC TOPMed gnomAD ClinGen
CA3119255 rs755533001	124	R>G		No	ExAC gnomAD ClinGen
CA3119253 rs375075355	125	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3119251 rs143601664 CA109024513	128	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3119252 rs144454890	128	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA109024209 COSM1428209 rs917244144	133	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA358638202 rs1560788159	136	S>G		No	ClinGen Ensembl
rs763988078 CA3119228	136	S>N		No	ExAC gnomAD ClinGen
CA3119226 rs199672156	137	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA358638186 rs1307260322	138	V>A		No	TOPMed gnomAD ClinGen
CA3119224 rs763070485	139	G>E		No	ClinGen ExAC TOPMed gnomAD
CA3119225 rs766561850	139	G>R		No	ExAC gnomAD ClinGen
CA3119222 rs770103426	140	A>E		No	ExAC ClinGen
CA358638168 rs1480127799	142	E>Q		No	Ensembl ClinGen
CA358638160 rs1377164525	143	S>P		No	ClinGen gnomAD
TCGA novel	143	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	147	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3119220 rs776839819	150	K>E		No	ClinGen ExAC gnomAD
CA3119218 rs1553960046	150	K>N		No	ClinGen Ensembl
TCGA novel	151	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3119217 rs368304065	153	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1473621418 CA358638087	154	D>G		No	gnomAD ClinGen
rs201002849 CA3119216	154	D>N		No	ClinGen 1000Genomes ExAC
CA109024208 rs978889110	158	Q>R		No	ClinGen Ensembl
rs772578153 CA3119214	159	Q>E		No	ExAC TOPMed gnomAD ClinGen
rs1486305738 CA358638050	160	V>I		No	ClinGen TOPMed gnomAD
rs1486305738 CA358638049	160	V>L		No	ClinGen TOPMed gnomAD
CA3119213 rs745330152	162	D>N		No	ExAC gnomAD ClinGen
rs537194160 CA3119212	163	C>R		No	1000Genomes ExAC gnomAD ClinGen
CA358638024 rs1483092586	163	C>W		No	ClinGen TOPMed gnomAD
rs755173766 CA109024206	164	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs756868910 CA3119211	164	S>P		No	ClinGen ExAC TOPMed gnomAD
rs755173766 CA109024207	164	S>W		No	ClinGen TOPMed gnomAD
CA358638016 rs1382609033	165	Y>C		No	ClinGen gnomAD
rs777416396 CA3119209	167	N>H		No	ClinGen ExAC gnomAD
CA3119208 rs756003102	169	G>A		No	ClinGen ExAC gnomAD
CA358637986 rs756003102	169	G>D		No	ClinGen ExAC gnomAD
CA358637977 rs1310478392	170	C>W		No	ClinGen gnomAD
CA3119207 rs752438499	171	N>D		No	ClinGen ExAC gnomAD
rs1275871105 CA358637973	171	N>S		No	TOPMed ClinGen
CA109024205 rs374145943	172	G>R		No	ESP TOPMed gnomAD ClinGen
CA3119206 rs143745102	173	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3119205 rs759578894	174	S>F		No	ExAC gnomAD ClinGen
CA358637944 rs1475567225	176	L>P		No	gnomAD ClinGen
CA358637947 rs1265474055	176	L>V		No	ClinGen Ensembl
CA358637940 rs1370710873	177	N>D		No	gnomAD ClinGen
TCGA novel	178	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3119203 rs765459427	180	N>T		No	ClinGen ExAC gnomAD
CA358637919 rs1283476438	180	N>Y		No	ClinGen TOPMed
rs761930154 CA358637909	181	W>*		No	ExAC TOPMed gnomAD ClinGen
rs761930154 CA3119202	181	W>C		No	ClinGen ExAC TOPMed gnomAD
CA109024203 rs987221088	181	W>L		No	TOPMed gnomAD ClinGen
rs1262822832 CA358637914	181	W>R		No	ClinGen gnomAD
CA109024202 rs374298053	183	N>I		No	ClinGen ExAC gnomAD
CA3119201 rs374298053	183	N>T		No	ExAC gnomAD ClinGen
CA358637890 rs1213847590	184	K>R		No	ClinGen gnomAD
CA3119180 rs767915906	185	M>I		No	ClinGen ExAC gnomAD
rs775798569 CA3119181	185	M>K		No	ExAC gnomAD ClinGen
CA3119179 rs760021850	186	Q>*		No	ExAC gnomAD ClinGen
rs771345401 CA3119177	187	V>I		No	ExAC ClinGen
CA3119175 rs535640319	193	S>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	196	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	197	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769458051 CA3119173	199	A>T		No	ExAC gnomAD ClinGen
rs376527696 CA3119172	201	N>D		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	201	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754890474 CA3119170	202	G>D		No	ClinGen ExAC TOPMed gnomAD
rs754890474 CA3119171	202	G>V		No	ClinGen ExAC TOPMed gnomAD
CA358637750 rs1202044548	204	C>R		No	ClinGen gnomAD
rs780085147 CA3119168	204	C>Y		No	ExAC gnomAD ClinGen
CA109023956 rs373467360	205	H>R		No	ESP TOPMed gnomAD ClinGen
CA358637730 rs150623992	206	Y>*		No	ESP ExAC TOPMed gnomAD ClinGen
rs200764150 CA3119166	208	S>F		No	ESP ExAC TOPMed gnomAD ClinGen
CA358637706 rs1202881337	210	S>*		No	gnomAD ClinGen
CA3119165 rs141848549	211	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA358637703 rs141848549	211	H>Y		No	ESP ExAC TOPMed gnomAD ClinGen
CA109023955 rs777630281	212	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA358637671 rs1220720991	216	I>V		No	ClinGen gnomAD
rs752972814 CA358637654	218	G>A		No	ExAC TOPMed gnomAD ClinGen
CA358637655 rs1347474369	218	G>C		No	gnomAD ClinGen
CA3119162 rs752972814	218	G>D		No	ExAC TOPMed gnomAD ClinGen
CA3119163 COSM394521 rs752972814	218	G>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs148501038 CA3119161	219	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA358637646 rs1416270374	220	S>T		No	TOPMed ClinGen
rs1246375141 CA358637639	221	A>S		No	ClinGen Ensembl
rs1310410473 CA358637624	223	D>H		No	ClinGen gnomAD
CA3119159 rs751934098	225	S>N		No	ClinGen ExAC gnomAD
rs1471702302 CA358559476	226	D>H		No	gnomAD ClinGen
CA358559455 rs1465552588	228	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	228	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1347602692 CA358559459	228	E>*		No	TOPMed ClinGen
CA358559453 rs1334389012	229	D>N		No	ClinGen gnomAD
rs1042180364 CA108849260	232	A>T		No	TOPMed ClinGen
TCGA novel	233	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358559411 rs1328486030	234	A>G		No	gnomAD ClinGen
rs765781141 CA358559415	234	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3119134 rs765781141	234	A>T		No	ExAC TOPMed gnomAD ClinGen
CA358559413 rs1328486030	234	A>V		No	gnomAD ClinGen
CA358559409 rs1291231780	235	L>V		No	gnomAD ClinGen
rs761352356 CA3119133	236	L>F		No	ExAC gnomAD ClinGen
CA108849246 rs796706035	237	T>I		No	ClinGen Ensembl
rs776307472 CA358559379	240	P>A		No	ClinGen ExAC gnomAD
CA3119132 rs776307472	240	P>S		No	ClinGen ExAC gnomAD
CA108849205 rs144614643	241	L>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs925519057 CA108849195	244	I>T		No	Ensembl ClinGen
CA358559342 COSM460662 rs1260348056	246	D>V	cervix Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed ClinGen cosmic curated NCI-TCGA
CA358559334 rs1349907441	247	A>G		No	ClinGen gnomAD
rs775329315 CA3119129	247	A>S		No	ExAC gnomAD ClinGen
rs1426671485 CA358559332	248	V>M		No	TOPMed ClinGen
CA3119128 rs142851384	250	W>*		No	ESP ExAC TOPMed gnomAD ClinGen
CA108849169 rs371937185	251	Q>K		No	ESP TOPMed gnomAD ClinGen
rs745811267 CA3119127	251	Q>P		No	ClinGen ExAC gnomAD
CA108849165 rs964170812	252	D>N		No	gnomAD ClinGen
CA3119126 rs778647108	252	D>V		No	ExAC gnomAD ClinGen
CA108849147 rs1054351989	253	Y>*		No	ClinGen TOPMed
CA3119124 rs150110652	255	G>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552008584 CA3119123	255	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs150110652 CA358559218	255	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358559202 rs1466710117	256	G>D		No	ClinGen TOPMed
rs755170802 CA3119122	257	I>V		No	ExAC gnomAD ClinGen
rs1223838339 CA358559182	258	I>L		No	ClinGen gnomAD
CA108849108 rs932018305	258	I>T		No	ClinGen TOPMed gnomAD
CA108849091 rs746546421	259	Q>*		No	ClinGen TOPMed
CA108849096 rs746546421	259	Q>E		No	ClinGen TOPMed
CA358559161 rs1289787730	259	Q>R		No	ClinGen gnomAD
rs1229612793 CA358559133	261	H>D		No	gnomAD ClinGen
rs1229612793 CA358559131	261	H>Y		No	ClinGen gnomAD
TCGA novel	263	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358559086 rs1294980748	264	S>G		No	ClinGen TOPMed gnomAD
CA358559081 rs1433854604	264	S>I		No	ClinGen gnomAD
TCGA novel	265	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3119121 rs751838108	265	G>R		No	ClinGen ExAC gnomAD
CA358559052 rs1294822284	266	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3119120 rs780460172	266	E>V		No	ExAC gnomAD ClinGen
CA3119119 rs758621406	267	A>V		No	ExAC gnomAD ClinGen
CA3119118 rs750811108	269	H>L		No	ClinGen ExAC gnomAD
rs1308487825 CA358559003	269	H>N		No	TOPMed gnomAD ClinGen
CA358558999 rs1308487825	269	H>Y		No	ClinGen TOPMed gnomAD
CA3119117 rs765609768	271	V>L		No	ClinGen ExAC gnomAD
CA3119116 rs757866604	272	L>F		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	272	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358558929 rs1349601267	273	I>M		No	ClinGen TOPMed
rs1193057537 CA358558938	273	I>V		No	ClinGen gnomAD
CA3119114 rs763749060	274	T>S		No	ClinGen ExAC gnomAD
CA3119112 rs760393290	275	G>E		No	ClinGen ExAC TOPMed gnomAD
CA358558913 CA358558911 rs1560784237	275	G>R		No	ClinGen Ensembl
CA358558872 rs1484606715	277	D>G		No	TOPMed ClinGen
CA358558847 rs1206440253	279	T>R		No	gnomAD ClinGen
rs773995247 CA3119090	281	S>R		No	ExAC TOPMed gnomAD ClinGen
CA358558442 rs1464770701	282	T>N		No	gnomAD ClinGen
rs1160069432 CA358558434	283	P>L		No	ClinGen gnomAD
CA358558409 rs1226480902	287	V>M		No	TOPMed ClinGen
COSM173227 CA3119086 rs138871272	288	R>Q	large_intestine [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated
CA3119087 rs773065737	288	R>W		No	ExAC TOPMed gnomAD ClinGen
CA358558396 rs1181646417	289	N>S		No	ClinGen gnomAD
rs912020539 CA108847604	290	S>C		No	ClinGen TOPMed gnomAD
CA358558384 rs1228087195	291	W>*		No	ClinGen gnomAD
CA3119085 rs747008200	292	G>R		No	ClinGen ExAC gnomAD
CA3119084 rs775666552	292	G>V		No	ClinGen ExAC gnomAD
CA358558369 rs1268366703	293	S>I		No	ClinGen gnomAD
rs987676673 CA108847580	294	S>C		No	ClinGen TOPMed
CA358558343 rs1260099973	297	V>A		No	ClinGen TOPMed gnomAD
CA358558342 rs1260099973	297	V>G		No	ClinGen TOPMed gnomAD
rs772150509 CA3119083	297	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA358558336 rs1358576615	298	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA358558338 rs1358576615	298	D>V		No	ClinGen TOPMed gnomAD
rs746154719 CA3119082	299	G>S		No	ClinGen ExAC gnomAD
TCGA novel	300	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779410656 CA358558313	302	H>D		No	ExAC gnomAD ClinGen
rs779410656 CA3119081	302	H>Y		No	ExAC gnomAD ClinGen
rs749677866 CA3119079	303	V>A		No	ClinGen ExAC gnomAD
rs1395222300 CA358558305	303	V>F		No	ClinGen gnomAD
TCGA novel	306	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145957354 CA3119078	307	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC gnomAD ClinGen NCI-TCGA
CA3119077 rs756668381	308	N>D		No	ClinGen ExAC gnomAD
CA358558269 rs752109298	308	N>I		No	ExAC TOPMed gnomAD ClinGen
CA3119076 rs752109298	308	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1458899198 CA358558255	310	C>F		No	gnomAD ClinGen
CA3119051 rs74639819	311	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754573261 CA3119074	311	G>S		No	ExAC gnomAD ClinGen
rs751081061 CA3119050	312	I>V		No	ClinGen ExAC gnomAD
CA3119049 rs377108759	313	A>T		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	315	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374282693 CA3119047	316	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	317	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1269756877 CA358557877	319	I>T		No	gnomAD ClinGen
rs1560782737 COSM207114 CA358557863	321	V>A	large_intestine [Cosmic]	No	Ensembl ClinGen cosmic curated
CA555624790 rs1332857348	322	V>T		No	gnomAD ClinGen

No associated diseases with P43234

1 regional properties for P43234

Type	Name	Position	InterPro Accession
conserved_site	Enoyl-CoA hydratase/isomerase, conserved site	143 - 163	IPR018376

Functions

		Description
EC Number	3.4.22.42	Cysteine endopeptidases
Subcellular Localization	Lysosome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
lysosome	A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.

1 GO annotations of molecular function

Name	Definition
cysteine-type endopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile.

2 GO annotations of biological process

Name	Definition
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
proteolysis involved in protein catabolic process	The hydrolysis of a peptide bond or bonds within a protein as part of the chemical reactions and pathways resulting in the breakdown of a protein by individual cells.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P56202	CTSW	Cathepsin W	Homo sapiens (Human)	PR
P09668	CTSH	Pro-cathepsin H	Homo sapiens (Human)	PR
Q9UJW2	TINAG	Tubulointerstitial nephritis antigen	Homo sapiens (Human)	PR
P56203	Ctsw	Cathepsin W	Mus musculus (Mouse)	PR
Q8BM88	Ctso	Cathepsin O	Mus musculus (Mouse)	PR
P43296	RD19A	Cysteine protease RD19A	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MDVRALPWLP	WLLWLLCRGG	GDADSRAPFT	PTWPRSRERE	AAAFRESLNR	HRYLNSLFPS
70	80	90	100	110	120
ENSTAFYGIN	QFSYLFPEEF	KAIYLRSKPS	KFPRYSAEVH	MSIPNVSLPL	RFDWRDKQVV
130	140	150	160	170	180
TQVRNQQMCG	GCWAFSVVGA	VESAYAIKGK	PLEDLSVQQV	IDCSYNNYGC	NGGSTLNALN
190	200	210	220	230	240
WLNKMQVKLV	KDSEYPFKAQ	NGLCHYFSGS	HSGFSIKGYS	AYDFSDQEDE	MAKALLTFGP
250	260	270	280	290	300
LVVIVDAVSW	QDYLGGIIQH	HCSSGEANHA	VLITGFDKTG	STPYWIVRNS	WGSSWGVDGY
310	320
AHVKMGSNVC	GIADSVSSIF	V