AiPD: Autoinhibited Protein Database

P09668

Gene name	CTSH (CPSB)
Protein name	Pro-cathepsin H
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1512
EC number	3.4.22.16: Cysteine endopeptidases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

65-144 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

65-144 (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 P09668

Entry ID	Method	Resolution	Chain	Position	Source
6CZK	X-ray	200 A	A	1-335	PDB
6CZS	X-ray	166 A	A	1-335	PDB
AF-P09668-F1	Predicted				AlphaFoldDB

325 variants for P09668

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000055656 rs886037648	162	L>missing	Variant of unknown significance [ClinVar]	Yes	ClinVar dbSNP
rs528824033 CA7688006	2	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA273980004 rs752875267 CA7688005	2	W>C		No	ClinGen ExAC gnomAD
rs765453077 CA7688004	3	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1396631323 CA393597626	3	A>P		No	ClinGen gnomAD
rs1396631323 CA393597627	3	A>T		No	ClinGen gnomAD
rs765453077 CA393597623	3	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1399625004 CA393597622	4	T>A		No	ClinGen TOPMed gnomAD
rs374791039 CA7688002	4	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374791039 CA393597619	4	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs953576639 CA393597617	5	L>M		No	ClinGen gnomAD
CA393597616 rs1470702188	5	L>P		No	ClinGen gnomAD
CA273979992 rs953576639	5	L>V		No	ClinGen gnomAD
CA273979988 rs1008571639	6	P>R		No	ClinGen TOPMed gnomAD
rs1378369940 CA393597606	7	L>P		No	ClinGen TOPMed
rs776423873 CA7688001	7	L>V		No	ClinGen ExAC
CA393597602 rs1470181947	8	L>F		No	ClinGen gnomAD
CA393597603 rs1470181947	8	L>I		No	ClinGen gnomAD
CA273979975 rs552833870	10	A>S		No	ClinGen 1000Genomes
rs1567387003 CA393597588	10	A>V		No	ClinGen Ensembl
VAR_057038 rs2289702 CA7688000	11	G>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA393597581 rs1286583185	11	G>V		No	ClinGen gnomAD
CA7687998 rs543936667	12	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA273979955 rs543936667	12	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1395769309 CA393597569	13	W>L		No	ClinGen TOPMed gnomAD
rs1373011407 CA393597554	16	G>R		No	ClinGen gnomAD
CA393597547 rs1304163437	17	V>L		No	ClinGen gnomAD
rs1319843128 CA393597536	19	V>I		No	ClinGen gnomAD
rs1374495044 CA393597525	20	C>F		No	ClinGen gnomAD
rs1400884265 CA393597529	20	C>R		No	ClinGen gnomAD
rs1374495044 CA393597526	20	C>S		No	ClinGen gnomAD
CA273979937 rs530176717	21	G>S		No	ClinGen 1000Genomes gnomAD
rs1396205700 CA393597518	21	G>V		No	ClinGen gnomAD
rs1186495454 CA393597515	22	A>S		No	ClinGen gnomAD
rs778307559 CA7687995	22	A>V		No	ClinGen ExAC gnomAD
CA393597509 rs35001431	23	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_057039 rs35001431 RCV000957329 CA7687994	23	A>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA393597503 rs1278464954	24	E>*		No	ClinGen gnomAD
CA7687993 rs541062615	25	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393597496 rs1447103926	25	L>Q		No	ClinGen TOPMed
CA393597488 rs887763614	26	C>*		No	ClinGen TOPMed gnomAD
CA7687992 VAR_060368 rs1036938	26	C>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA393597487 rs887763614	26	C>W		No	ClinGen TOPMed gnomAD
CA393597486 rs1359816703	27	V>M		No	ClinGen gnomAD
rs1354353658 CA393597467	29	S>F		No	ClinGen gnomAD
rs1466509734 CA393597462	30	L>*		No	ClinGen TOPMed
rs1436954623 CA393597457	31	E>*		No	ClinGen gnomAD
rs758911355 CA7687965	32	K>E		No	ClinGen ExAC gnomAD
rs1417058594 CA393597040	32	K>R		No	ClinGen gnomAD
TCGA novel	33	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1409838706 CA393597011	34	H>R		No	ClinGen gnomAD
CA393597002 rs1179048500	35	F>L		No	ClinGen gnomAD
CA393596987 rs1307764560	36	K>E		No	ClinGen TOPMed
CA7687964 rs748620551	36	K>R		No	ClinGen ExAC gnomAD
rs755003765 CA7687962	41	K>E		No	ClinGen ExAC gnomAD
rs776414935 CA7687931	42	H>R		No	ClinGen ExAC gnomAD
rs1349471141 CA393596902	42	H>Y		No	ClinGen TOPMed
rs770661166 CA7687930	43	R>C		No	ClinGen ExAC gnomAD
CA393596896 rs770661166	43	R>G		No	ClinGen ExAC gnomAD
CA7687929 rs373908829	43	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs147145865 CA393596875	46	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147145865 CA7687928	46	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7687927 rs769006889	48	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA393596857 rs1163529954	49	E>*		No	ClinGen gnomAD
rs1362380433 CA393596851	50	E>K		No	ClinGen TOPMed gnomAD
rs1180920353 CA393596846	50	E>V		No	ClinGen gnomAD
CA393596841 rs1596287021	51	Y>D		No	ClinGen Ensembl
CA393596830 rs1252929826	52	H>Q		No	ClinGen gnomAD
rs769852536 CA7687924	52	H>Y		No	ClinGen ExAC gnomAD
CA7687922 rs188231215	57	T>M	Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA716005314 rs1184873482	62	W>*		No	ClinGen TOPMed
rs1472641497 CA393596690	65	I>L		No	ClinGen TOPMed
rs1164365637 CA393596680	65	I>T		No	ClinGen TOPMed
rs201782561 CA393596661	67	A>P		No	ClinGen ExAC TOPMed gnomAD
rs201782561 CA7687918	67	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7687917 rs752664784	69	N>S		No	ClinGen ExAC gnomAD
rs1438048250 CA393596622	70	N>S		No	ClinGen TOPMed gnomAD
rs765327520 CA7687916	70	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs1243739973 CA393596604	72	N>D		No	ClinGen TOPMed
rs1002452059 CA273974432	77	M>L		No	ClinGen Ensembl
CA393596190 rs1596284885	78	A>V		No	ClinGen Ensembl
TCGA novel	79	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1207770696 CA393596154	81	Q>H		No	ClinGen TOPMed gnomAD
rs200940432 CA7687890	84	D>H		No	ClinGen ExAC TOPMed gnomAD
CA7687888 rs535787671	88	A>P		No	ClinGen 1000Genomes
CA393596035 rs1596284847	90	I>R		No	ClinGen Ensembl
TCGA novel	91	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs940560095 CA273973138	92	H>P		No	ClinGen TOPMed gnomAD
rs566750690 CA7687887	93	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA7687885 rs760040268	96	W>S		No	ClinGen ExAC gnomAD
CA393595935 rs1400189292	98	E>Q		No	ClinGen gnomAD
rs771026987 CA7687883	99	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1450639641 CA393595906	100	Q>*		No	ClinGen gnomAD
CA7687882 rs747122169	100	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA273972644 rs1037454348	101	N>Y		No	ClinGen Ensembl
rs765597891 CA7687866	102	C>F		No	ClinGen ExAC gnomAD
rs145029663 CA7687865	103	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs777188123 CA7687864	104	A>T		No	ClinGen ExAC gnomAD
CA273972636 rs1014648535	106	K>E		No	ClinGen TOPMed
rs766831718 CA7687863	106	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1239942196 CA393595728	109	Y>C		No	ClinGen gnomAD
TCGA novel	109	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7687862 rs760782047	110	L>F		No	ClinGen ExAC gnomAD
CA7687861 rs548206226	111	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA7687860 rs528091807	111	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs774233788 CA7687858	112	G>D		No	ClinGen ExAC gnomAD
rs768559983 CA7687857	113	T>A		No	ClinGen ExAC gnomAD
CA273972601 rs372283224	113	T>I		No	ClinGen TOPMed
CA7687855 rs758441356	116	Y>*		No	ClinGen ExAC gnomAD
CA7687854 rs565309151	118	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA393595604 rs1458563075	120	V>A		No	ClinGen gnomAD
CA7687851 rs745343457	120	V>M		No	ClinGen ExAC gnomAD
TCGA novel	121	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	121	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7687850 rs780571910	123	R>Q		No	ClinGen ExAC gnomAD
CA393595572 rs1567369306	123	R>W		No	ClinGen Ensembl
CA393595562 rs1382081867	124	K>N		No	ClinGen gnomAD
CA7687849 rs756842363	124	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1179221001 CA393595557	125	K>R		No	ClinGen TOPMed gnomAD
CA393595551 COSM302015 rs1453754889	126	G>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs868114560 CA273972554	126	G>E		No	ClinGen Ensembl
VAR_036478	126	G>R	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
rs777466079 CA7687847	128	F>C		No	ClinGen ExAC gnomAD
rs751197826 CA7687848	128	F>I		No	ClinGen ExAC gnomAD
CA7687846 rs755301352	129	V>F		No	ClinGen ExAC
CA393595513 rs1259847854	131	P>H		No	ClinGen gnomAD
rs1218521961 CA393594662	136	G>D		No	ClinGen gnomAD
CA393594651 rs1176505372	137	A>V		No	ClinGen gnomAD
CA7687794 rs759226585	138	C>R		No	ClinGen ExAC gnomAD
CA7687792 rs766261285	139	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA273969941 rs78513281	140	S>R		No	ClinGen Ensembl
CA393594613 rs1283401115	141	C>Y		No	ClinGen gnomAD
CA273969933 rs902281536 COSM965443	144	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1174370346 CA393594567	145	S>C		No	ClinGen TOPMed
CA273969927 rs749842358	147	T>N		No	ClinGen TOPMed
CA273969920 rs749842358	147	T>S		No	ClinGen TOPMed
rs760614809 CA7687791	148	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1332826573 CA393594535	149	A>D		No	ClinGen gnomAD
CA7687790 rs745687624	149	A>S		No	ClinGen ExAC TOPMed gnomAD
rs773846126 CA7687787	152	S>P		No	ClinGen ExAC gnomAD
rs141613289 CA7687786	153	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA393594499 rs1303526545	153	A>V		No	ClinGen TOPMed
rs1567363876 CA393594489	155	A>D		No	ClinGen Ensembl
CA7687783 rs143214964	155	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1219073904 CA393594485	156	I>V		No	ClinGen TOPMed gnomAD
COSM3690559 CA393594479 rs1236795859	157	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA7687779 rs752868085	159	G>A		No	ClinGen ExAC gnomAD
rs758377577 CA7687780	159	G>R		No	ClinGen ExAC TOPMed gnomAD
rs78155742 CA7687777	160	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7687776 rs753566686	161	M>V		No	ClinGen ExAC gnomAD
rs375198024 CA7687775	163	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs61731865 CA7687756	165	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754050924 CA7687758	165	A>T		No	ClinGen ExAC gnomAD
rs61731865 CA7687757	165	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750969488 CA7687752	167	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs767310178 CA7687754	167	Q>L		No	ClinGen ExAC gnomAD
CA393594400 COSM1249421 rs1457541411	168	Q>*	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA393594402 rs1457541411	168	Q>K		No	ClinGen TOPMed gnomAD
CA393594385 rs1596279398	170	V>G		No	ClinGen Ensembl
rs146836161 CA7687751	170	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA393594381 rs1406937758	171	D>G		No	ClinGen gnomAD
CA273968965 rs941033377	171	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1406937758 CA393594380	171	D>V		No	ClinGen gnomAD
rs112017116 CA7687749	173	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1158014802 COSM1374824 CA393594369	173	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs112017116 CA7687748	173	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs773652589 CA7687746	174	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA7687747 rs773652589	174	Q>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	174	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143276719 CA7687745	177	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA273968956 VAR_067717 rs1130856	179	H>Y		No	ClinGen UniProt Ensembl dbSNP
rs1244678889 CA393594321	180	G>S		No	ClinGen gnomAD
TCGA novel	184	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393594275 rs1290728947	185	L>V		No	ClinGen TOPMed
rs758437520 CA7687712	187	S>R		No	ClinGen ExAC gnomAD
CA393594261 rs1229048379	187	S>T		No	ClinGen gnomAD
CA393594244 rs1482575697	189	A>V		No	ClinGen gnomAD
CA7687710 rs139839741	190	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1276595455 CA393594233	191	E>G		No	ClinGen gnomAD
rs753528092 CA7687708	191	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	191	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393594225 rs1216534756	192	Y>C		No	ClinGen gnomAD
CA393594226 rs1216534756	192	Y>S		No	ClinGen gnomAD
CA7687706 rs762219427	195	Y>*		No	ClinGen ExAC gnomAD
TCGA novel	196	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177854892 CA393594180	199	I>L		No	ClinGen TOPMed
rs998574700 CA273967227	200	M>I		No	ClinGen Ensembl
rs774721082 CA7687705	201	G>D		No	ClinGen ExAC TOPMed gnomAD
CA393594165 rs1376887728	201	G>S		No	ClinGen gnomAD
rs774721082 CA393594161	201	G>V		No	ClinGen ExAC TOPMed gnomAD
CA393594149 rs1469918312	203	D>A		No	ClinGen gnomAD
CA393594143 rs1567357325	204	T>A		No	ClinGen Ensembl
rs1422571996 CA393594140	204	T>N		No	ClinGen TOPMed
rs1567357325 CA393594144	204	T>P		No	ClinGen Ensembl
rs1386222372 CA393594131	205	Y>*		No	ClinGen TOPMed
rs1596276086 CA393594135	205	Y>S		No	ClinGen Ensembl
CA393594126 rs1168149871	206	P>R		No	ClinGen TOPMed gnomAD
rs949726717 CA273967197	210	K>E		No	ClinGen TOPMed gnomAD
CA7687703 rs763458320	210	K>N		No	ClinGen ExAC TOPMed gnomAD
CA393594102 rs949726717	210	K>Q		No	ClinGen TOPMed gnomAD
CA393594099 rs1373949684	210	K>R		No	ClinGen gnomAD
rs771986059 CA7687675	211	D>H		No	ClinGen ExAC gnomAD
rs771986059 CA7687676	211	D>N		No	ClinGen ExAC gnomAD
rs1450416198 CA393594081	211	D>V		No	ClinGen TOPMed
rs747999823 CA7687674	212	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7687673 rs778890691	213	Y>C		No	ClinGen ExAC gnomAD
CA7687671 rs375601338	214	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA273966012 rs375601338	214	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	214	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393594063 rs375601338	214	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs148490505 CA7687669	215	K>N		No	ClinGen ESP ExAC
rs1160357390 CA393594047	216	F>L		No	ClinGen gnomAD
CA393594032 rs1322019979	218	P>L		No	ClinGen TOPMed
rs780861241 CA393594027	219	G>A		No	ClinGen ExAC gnomAD
rs780861241 CA7687667	219	G>V		No	ClinGen ExAC gnomAD
rs1196977462 CA393594020	220	K>R		No	ClinGen gnomAD
rs1279749341 CA393594004	222	I>L		No	ClinGen TOPMed
CA273965983 rs907429987	222	I>N		No	ClinGen TOPMed gnomAD
CA7687665 rs377571418	223	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1041763073 CA273965972	225	V>I		No	ClinGen gnomAD
rs765734124 CA7687664	226	K>R		No	ClinGen ExAC gnomAD
CA393593943 rs1224947910	227	D>V		No	ClinGen gnomAD
CA7687663 rs199513135	228	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393593910 rs1193737015	230	N>I		No	ClinGen TOPMed
CA393593912 rs1193737015	230	N>S		No	ClinGen TOPMed
rs144589404	233	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	233	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755265082 CA7687627	234	Y>*		No	ClinGen ExAC gnomAD
rs149316890 CA273964676	235	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	235	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750468764 CA7687623	236	E>D		No	ClinGen ExAC gnomAD
rs202111900 CA7687624	236	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747510233 CA7687625 COSM1374823	236	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA393593348 rs1330775079	237	E>K		No	ClinGen gnomAD
CA7687622 rs560698092	238	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM196555 CA393593299 CA393593300 rs1410371588	241	E>D	Variant assessed as Somatic; impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs751728319 CA7687620	241	E>Q		No	ClinGen ExAC gnomAD
rs1302734137 CA393593296	242	A>P		No	ClinGen gnomAD
CA7687619 rs764418306	243	V>M		No	ClinGen ExAC gnomAD
CA393593278 rs1596270060	244	A>G		No	ClinGen Ensembl
CA7687618 rs762604293	246	Y>C		No	ClinGen ExAC TOPMed
CA7687617 rs775384459	247	N>D		No	ClinGen ExAC gnomAD
CA7687616 rs765090887	247	N>S		No	ClinGen ExAC gnomAD
rs1006489188 CA273964648	248	P>S		No	ClinGen Ensembl
rs905424000 COSM3420645 CA273964639	250	S>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1177472123 CA393593225	251	F>L		No	ClinGen gnomAD
rs1045117316 CA273964635	252	A>V		No	ClinGen Ensembl
rs1162472981 CA393593191	254	E>K		No	ClinGen TOPMed
rs1234315643 CA393593173	255	V>G		No	ClinGen gnomAD
rs1205641344 CA393593169	256	T>A		No	ClinGen gnomAD
rs770419158 CA7687613	256	T>I		No	ClinGen ExAC TOPMed gnomAD
rs772715662 CA7687612	257	Q>P		No	ClinGen ExAC gnomAD
rs772715662 CA7687611	257	Q>R		No	ClinGen ExAC gnomAD
rs771781236 CA7687610	259	F>L		No	ClinGen ExAC TOPMed gnomAD
rs138844057 CA7687609	260	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7687608 rs780573628	261	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1307842406 CA393593080	264	T>A		No	ClinGen TOPMed
rs117238468 CA7687607	264	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA273964608 rs117238468	264	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747159161 CA273964587	266	I>T		No	ClinGen Ensembl
rs757254632 CA7687604	266	I>V		No	ClinGen ExAC gnomAD
CA393593036 rs1426399726	269	S>T		No	ClinGen gnomAD
rs746276704 CA7687583	270	T>I		No	ClinGen ExAC gnomAD
rs1596265737 CA393592744	270	T>P		No	ClinGen Ensembl
rs781759556 CA7687582	271	S>P		No	ClinGen ExAC gnomAD
CA7687580 rs746993559	273	H>Y		No	ClinGen ExAC gnomAD
rs1567343437 CA393592706	274	K>R		No	ClinGen Ensembl
rs758464801 CA7687578	278	K>T		No	ClinGen ExAC gnomAD
CA273963009 rs1013670469	282	A>T		No	ClinGen TOPMed
CA7687575 rs201599593	286	V>G		No	ClinGen ExAC gnomAD
rs867281028 CA273962976	286	V>I		No	ClinGen gnomAD
rs754742523 CA7687574	287	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1288925087 CA393592569	288	Y>C		No	ClinGen gnomAD
CA7687571 rs760668723	288	Y>D		No	ClinGen ExAC gnomAD
CA273962949 rs775862848	289	G>E		No	ClinGen TOPMed
rs1293224316 CA393592559	289	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs767045635 CA7687569	290	E>G		No	ClinGen ExAC TOPMed
rs1383302301 CA393592529	292	N>D		No	ClinGen TOPMed gnomAD
CA393592523 rs1178094254	292	N>I		No	ClinGen gnomAD
rs1470013664	292	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA393592521 rs1596265581	292	N>K		No	ClinGen Ensembl
TCGA novel	292	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761296683 CA7687568	293	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1430807329 CA393592504	294	I>N		No	ClinGen gnomAD
rs759937369 CA7687565	296	Y>H		No	ClinGen ExAC gnomAD
rs771283978 CA7687563	297	W>*		No	ClinGen ExAC gnomAD
rs1442303905 CA393592457	298	I>T		No	ClinGen TOPMed
COSM1235060 rs773654270 CA7687561	299	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7687559 rs748272807	300	K>N		No	ClinGen ExAC TOPMed gnomAD
CA7687556 rs755226104	302	S>F		No	ClinGen ExAC TOPMed gnomAD
CA7687555 rs749018800	303	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1451865453 CA393592397	304	G>S		No	ClinGen TOPMed gnomAD
rs28420598 CA273962900	306	Q>H		No	ClinGen Ensembl
rs779915500 CA7687553	307	W>R		No	ClinGen ExAC TOPMed gnomAD
CA393592344 rs1452827007	309	M>T		No	ClinGen gnomAD
rs377180628 CA7687552	309	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7687551 rs750371155	310	N>T		No	ClinGen ExAC gnomAD
rs910214907 CA273962862	311	G>E		No	ClinGen TOPMed gnomAD
rs767398067 CA7687550	311	G>R		No	ClinGen ExAC TOPMed gnomAD
rs758044646 CA7687526	312	Y>C		No	ClinGen ExAC gnomAD
rs763681188 CA7687527	312	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs941324595 CA273962310	313	F>L		No	ClinGen TOPMed
rs202044996 CA7687523	315	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs202044996 CA7687524	315	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7687521 rs767948496	316	E>K		No	ClinGen ExAC TOPMed gnomAD
rs11558397 CA7687520	317	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7687519 rs774897026	317	R>H		No	ClinGen ExAC TOPMed gnomAD
CA393591957 rs1428927884	318	G>A		No	ClinGen TOPMed gnomAD
rs1428927884 CA393591956	318	G>E		No	ClinGen TOPMed gnomAD
CA7687517 rs763065489	318	G>R		No	ClinGen ExAC TOPMed gnomAD
CA273962267 rs976956895 CA393591942	319	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
CA273962265 rs989262100	321	M>I		No	ClinGen Ensembl
CA393591921 rs1199431032	321	M>T		No	ClinGen gnomAD
rs957447452 CA273962261	322	C>Y		No	ClinGen Ensembl
CA393591901 rs1281448625	323	G>V		No	ClinGen gnomAD
rs867757744 CA273962253	325	A>T		No	ClinGen TOPMed
rs1567341042 CA393591881	326	A>T		No	ClinGen Ensembl
rs1329391549 CA393591867	327	C>S		No	ClinGen gnomAD
CA7687513 rs148078851	328	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA273962236 rs868709179	333	P>H		No	ClinGen Ensembl
CA393591807 rs1320353561	333	P>S		No	ClinGen gnomAD
rs1174501099 CA393591788	335	V>A		No	ClinGen gnomAD
rs1174501099 CA393591787	335	V>G		No	ClinGen gnomAD
rs1405583971 CA393591795	335	V>M		No	ClinGen gnomAD
CA273962232 rs866745703	336	V>L		No	ClinGen gnomAD

No associated diseases with P09668

6 regional properties for P09668

Type	Name	Position	InterPro Accession
active_site	Cysteine peptidase, cysteine active site	135 - 146	IPR000169
domain	Peptidase C1A, papain C-terminal	116 - 332	IPR000668
domain	Cathepsin propeptide inhibitor domain (I29)	35 - 90	IPR013201
active_site	Cysteine peptidase, histidine active site	279 - 289	IPR025660
active_site	Cysteine peptidase, asparagine active site	296 - 315	IPR025661
domain	Papain-like cysteine endopeptidase	117 - 331	IPR039417

Functions

		Description
EC Number	3.4.22.16	Cysteine endopeptidases
Subcellular Localization	Lysosome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

13 GO annotations of cellular component

Name	Definition
alveolar lamellar body	A specialized secretory organelle found in type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant.
collagen-containing extracellular matrix	An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells.
cytoplasmic ribonucleoprotein granule	A ribonucleoprotein granule located in the cytoplasm.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
ficolin-1-rich granule lumen	Any membrane-enclosed lumen that is part of a ficolin-1-rich granule.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
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.
multivesicular body lumen	The volume enclosed by the outermost membrane of a multivesicular body.
secretory granule lumen	The volume enclosed by the membrane of a secretory granule.
tertiary granule lumen	Any membrane-enclosed lumen that is part of a tertiary granule.

9 GO annotations of molecular function

Name	Definition
aminopeptidase activity	Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain.
cysteine-type endopeptidase activator activity involved in apoptotic process	Binds to and increases the rate of proteolysis catalyzed by a cysteine-type endopeptidase involved in the apoptotic process.
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.
cysteine-type peptidase activity	Catalysis of the hydrolysis of 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.
endopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain.
HLA-A specific activating MHC class I receptor activity	Combining with a MHC class I molecule of the HLA-A subclass to mediate signaling that activates a lymphocyte.
peptidase activity	Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid.
serine-type endopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).
thyroid hormone binding	Binding to thyroxine (T4) or triiodothyronine (T3), tyrosine-based hormones produced by the thyroid gland.

25 GO annotations of biological process

Name	Definition
adaptive immune response	An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
antigen processing and presentation	The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex.
bradykinin catabolic process	The chemical reactions and pathways resulting in the breakdown of the peptide bradykinin.
cellular response to thyroid hormone stimulus	A change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a thyroid hormone stimulus.
dichotomous subdivision of terminal units involved in lung branching	The process in which a lung bud bifurcates.
ERK1 and ERK2 cascade	An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
immune response-regulating signaling pathway	The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to the activation, perpetuation, or inhibition of an immune response.
membrane protein proteolysis	The proteolytic cleavage of a transmembrane protein leading to the release of its intracellular or ecto-domains.
metanephros development	The process whose specific outcome is the progression of the metanephros over time, from its formation to the mature structure. In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
neuropeptide catabolic process	The chemical reactions and pathways resulting in the breakdown of neuropeptides. Neuropeptides are signaling peptides that travel across a synaptic junction.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of epithelial cell migration	Any process that activates or increases the frequency, rate or extent of epithelial cell migration.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of peptidase activity	Any process that increases the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins.
protein destabilization	Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation.
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.
response to retinoic acid	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus.
surfactant homeostasis	Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli.
T cell mediated cytotoxicity	The directed killing of a target cell by a T cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.
zymogen activation	The proteolytic processing of an inactive enzyme to an active form.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P56202	CTSW	Cathepsin W	Homo sapiens (Human)	PR
P43234	CTSO	Cathepsin O	Homo sapiens (Human)	PR
Q9UJW2	TINAG	Tubulointerstitial nephritis antigen	Homo sapiens (Human)	PR
O70370	Ctss	Cathepsin S	Mus musculus (Mouse)	PR
P49935	Ctsh	Pro-cathepsin H	Mus musculus (Mouse)	PR
P00786	Ctsh	Pro-cathepsin H	Rattus norvegicus (Rat)	PR
P22895		P34 probable thiol protease	Glycine max (Soybean) (Glycine hispida)	PR
O65493	XCP1	Cysteine protease XCP1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q94B08	GCP1	Germination-specific cysteine protease 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LT77	RDL2	Probable cysteine protease RDL2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MWATLPLLCA	GAWLLGVPVC	GAAELCVNSL	EKFHFKSWMS	KHRKTYSTEE	YHHRLQTFAS
70	80	90	100	110	120
NWRKINAHNN	GNHTFKMALN	QFSDMSFAEI	KHKYLWSEPQ	NCSATKSNYL	RGTGPYPPSV
130	140	150	160	170	180
DWRKKGNFVS	PVKNQGACGS	CWTFSTTGAL	ESAIAIATGK	MLSLAEQQLV	DCAQDFNNHG
190	200	210	220	230	240
CQGGLPSQAF	EYILYNKGIM	GEDTYPYQGK	DGYCKFQPGK	AIGFVKDVAN	ITIYDEEAMV
250	260	270	280	290	300
EAVALYNPVS	FAFEVTQDFM	MYRTGIYSST	SCHKTPDKVN	HAVLAVGYGE	KNGIPYWIVK
310	320	330
NSWGPQWGMN	GYFLIERGKN	MCGLAACASY	PIPLV