AiPD: Autoinhibited Protein Database

Q9UI38

Gene name	PRSS50 (CT20, TSP50)
Protein name	Probable threonine protease PRSS50
Names	Cancer/testis antigen 20, Serine protease 50, Testis-specific protease-like protein 50
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29122
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-135 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-135 (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 Q9UI38

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UI38-F1	Predicted				AlphaFoldDB

335 variants for Q9UI38

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA73740326 rs61740476 COSM1222257	3	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs61740476 CA2358445	3	R>G		No	ClinGen ExAC gnomAD
rs779366366 CA2358444	3	R>L		No	ClinGen ExAC TOPMed gnomAD
CA352490180 rs1318161987	4	W>*		No	ClinGen gnomAD
CA352490192 rs1575473364	4	W>R		No	ClinGen Ensembl
CA352490168 rs1433834616	5	C>G		No	ClinGen gnomAD
CA352490132 rs1159176759	6	Q>*		No	ClinGen gnomAD
CA2358442 rs143548046	8	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352490075 rs1412540543	9	A>E		No	ClinGen TOPMed gnomAD
rs1412540543 CA352490072	9	A>G		No	ClinGen TOPMed gnomAD
rs1424445558 CA352490060	10	R>P		No	ClinGen TOPMed gnomAD
CA352490057 rs1478419144	11	G>R		No	ClinGen TOPMed gnomAD
CA2358440 rs756392900	12	Q>*		No	ClinGen ExAC gnomAD
CA2358439 rs752846963	13	R>C		No	ClinGen ExAC gnomAD
CA2358438 rs375716386	14	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1263209 rs372386834 CA2358435	15	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA352490010 rs1310799090	15	R>W		No	ClinGen TOPMed gnomAD
rs376088084 CA2358431	17	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1346531304 CA352489939	19	P>L		No	ClinGen gnomAD
CA2358429 rs1553632850	20	S>T		No	ClinGen Ensembl
CA2358428 rs753334551	21	R>C		No	ClinGen ExAC TOPMed gnomAD
CA73740271 rs753334551	21	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1423441 rs763693848 CA2358427	22	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs199767257 CA2358426	24	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2358425 rs771350879	24	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1416053822 CA352489873	25	L>M		No	ClinGen gnomAD
rs541651621 CA2358419	33	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs541651621 CA352489782	33	R>M		No	ClinGen 1000Genomes ExAC gnomAD
CA352489775 rs1482506362	33	R>S		No	ClinGen gnomAD
CA352489756 rs1201256684	34	S>F		No	ClinGen TOPMed
rs982616218 CA352489734	36	G>C		No	ClinGen TOPMed gnomAD
rs146422852 CA2358398	36	G>D		No	ClinGen ESP ExAC gnomAD
rs982616218 CA73740216	36	G>S		No	ClinGen TOPMed gnomAD
rs1349572204 CA352489612	38	W>*		No	ClinGen TOPMed gnomAD
rs1055374991 CA73740050	38	W>*		No	ClinGen TOPMed
CA352489610 rs1349572204	38	W>S		No	ClinGen TOPMed gnomAD
rs151210292 CA2358397	39	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1410163768 COSM1485225 CA352489575	40	A>T	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs551265169 CA73740042	41	G>V		No	ClinGen 1000Genomes
CA2358394 rs778911563	42	E>K		No	ClinGen ExAC gnomAD
rs1189019848 COSM1131427 CA352489487	44	P>L	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA352489471 rs1353105006	45	G>V		No	ClinGen TOPMed
CA352489440 rs1326858594	47	L>V		No	ClinGen gnomAD
CA2358392 rs749277999	48	S>C		No	ClinGen ExAC TOPMed gnomAD
CA352489408 rs1228932432	49	T>S		No	ClinGen gnomAD
rs1318725581 CA352489387	51	D>Y		No	ClinGen TOPMed gnomAD
CA352489361 rs1299085152	52	P>L		No	ClinGen gnomAD
rs777536112 CA2358391	53	A>T		No	ClinGen ExAC TOPMed gnomAD
rs755675643 CA2358390	53	A>V		No	ClinGen ExAC gnomAD
CA2358387 rs200124361 COSM1045335	54	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA2358386 rs200124361	54	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1458092582 CA352489274	57	V>I		No	ClinGen gnomAD
rs763259388 CA2358382	59	C>S		No	ClinGen ExAC gnomAD
CA352489220 rs1267394410	59	C>Y		No	ClinGen TOPMed gnomAD
CA2358381 rs750949979	60	V>I		No	ClinGen ExAC
CA352489118 rs1366882612	62	K>R		No	ClinGen TOPMed
rs1463216515 CA352489080	65	C>R		No	ClinGen gnomAD
rs897508638 CA73739932	66	P>L		No	ClinGen TOPMed gnomAD
CA73739938 rs529434119	66	P>S		No	ClinGen Ensembl
rs747386769 CA2358378	67	S>C		No	ClinGen ExAC gnomAD
rs1393454645 CA352489020	68	S>G		No	ClinGen TOPMed
CA352488992 rs1254216580	69	R>W		No	ClinGen gnomAD
rs147459039 COSM1734652 CA2358377	71	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2358376 COSM1045334 rs768769548	71	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC
CA352488968 rs1311702464	72	L>P		No	ClinGen gnomAD
CA2358374 rs202068351	73	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs761029113 CA2358375	73	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2358373 rs34788938 VAR_051859	75	Q>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA352488938 rs1559499258	76	T>N		No	ClinGen Ensembl
COSM298986 rs758187725 CA2358371	77	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA352488926 rs1436344483	77	P>S		No	ClinGen gnomAD
rs1465941551 CA352488866	80	Q>R		No	ClinGen gnomAD
rs748114852 CA2358369	81	T>I		No	ClinGen ExAC gnomAD
rs769555164 CA2358370	81	T>P		No	ClinGen ExAC gnomAD
rs751240487 CA2358366	82	L>V		No	ClinGen ExAC gnomAD
CA2358364 rs758775351	84	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1051309624 CA73739858	84	S>P		No	ClinGen TOPMed
CA2358363 rs750686955	85	T>A		No	ClinGen ExAC gnomAD
rs762283632 CA2358361	87	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1438760087 CA352488722	88	E>A		No	ClinGen TOPMed
rs1195077891 CA352488670 COSM1045333	91	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA352488635 rs1423831906	94	S>C		No	ClinGen TOPMed
CA352488630 rs1348610379	95	E>Q		No	ClinGen TOPMed
CA2358359 rs764120358	97	K>E		No	ClinGen ExAC gnomAD
CA2358358 VAR_051860 rs35866901 RCV000964908	98	V>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA352488499 rs1310960071	102	R>C		No	ClinGen TOPMed gnomAD
CA2358356 rs772366524	102	R>L		No	ClinGen ExAC gnomAD
CA352488505 rs1310960071	102	R>S		No	ClinGen TOPMed gnomAD
CA73738997 rs922364462	104	C>Y		No	ClinGen TOPMed gnomAD
CA2358347 rs375031103	108	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1323416033 CA352487816	108	Y>C		No	ClinGen TOPMed
CA352487808 rs1399336024	109	E>K		No	ClinGen TOPMed gnomAD
rs1356464430 CA352487778	110	Q>H		No	ClinGen gnomAD
CA73738967 rs993433708	111	D>H		No	ClinGen TOPMed gnomAD
rs745519089 CA2358345	112	P>S		No	ClinGen ExAC TOPMed gnomAD
rs757612251 CA2358343	113	T>I		No	ClinGen ExAC gnomAD
CA352487731 rs1291043516	114	L>V		No	ClinGen TOPMed
rs767703397 CA2358339	118	E>*		No	ClinGen ExAC TOPMed gnomAD
CA2358338 rs767703397	118	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2358337 rs368367787	120	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA2358335 rs761616741	122	R>L		No	ClinGen ExAC TOPMed gnomAD
CA73738934 rs761616741	122	R>P		No	ClinGen ExAC TOPMed gnomAD
rs761616741 CA2358334	122	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2358336 rs774598744	122	R>W		No	ClinGen ExAC gnomAD
CA352487568 rs368788846	123	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368788846 CA2358331	123	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs768513309 CA2358332	123	R>W		No	ClinGen ExAC gnomAD
rs1439607021 CA352487564	124	W>G		No	ClinGen gnomAD
CA352487560 rs1231242022	124	W>L		No	ClinGen TOPMed
CA2358330 rs200498965	127	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs771547179 CA2358329	129	S>N		No	ClinGen ExAC gnomAD
CA2358327 rs537240887	130	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2358325 rs749611912	131	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2358326 rs200918398	131	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778433387 CA2358324	132	A>D		No	ClinGen ExAC TOPMed gnomAD
rs778433387 CA352487447	132	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1322513491 CA352487445	133	N>D		No	ClinGen gnomAD
rs753245406 CA2358322	133	N>S		No	ClinGen ExAC gnomAD
CA352487405 rs767742381	136	H>D		No	ClinGen ExAC TOPMed gnomAD
CA2358321 rs767742381	136	H>N		No	ClinGen ExAC TOPMed gnomAD
CA352487408 rs767742381	136	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA73738793 rs900357065	137	I>M		No	ClinGen TOPMed gnomAD
CA73738831 rs933113500	137	I>S		No	ClinGen TOPMed gnomAD
CA2358320 rs755043417	139	A>V		No	ClinGen ExAC TOPMed gnomAD
rs372108492 CA2358317	140	G>D		No	ClinGen ESP ExAC gnomAD
rs766561471 CA2358318	140	G>S		No	ClinGen ExAC gnomAD
CA73738747 rs372881326	143	I>T		No	ClinGen TOPMed gnomAD
rs936415196 CA352487305	144	A>G		No	ClinGen TOPMed gnomAD
rs936415196 CA73738733	144	A>V		No	ClinGen TOPMed gnomAD
rs1198436616 CA352487298	145	S>Y		No	ClinGen gnomAD
CA2358316 rs776477155	147	W>*		No	ClinGen ExAC TOPMed gnomAD
CA352487269 rs776477155	147	W>C		No	ClinGen ExAC TOPMed gnomAD
rs763860898 CA2358315	148	V>M		No	ClinGen ExAC gnomAD
rs547946437 CA73738722	151	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA73738724 rs547946437	151	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs771604220 CA2358312	152	A>T		No	ClinGen ExAC gnomAD
rs145644141 CA2358311	152	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1204004478 CA352486661	157	W>*		No	ClinGen gnomAD
rs780228783 CA2358280	158	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2358279 rs113646760	158	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352486644 rs113646760	158	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780228783 CA352486653	158	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1417090767 CA352486614	160	V>I		No	ClinGen TOPMed
CA2358278 rs377291087	161	I>N		No	ClinGen ESP ExAC gnomAD
CA352486600 rs1226446471	161	I>V		No	ClinGen gnomAD
rs755916789 CA2358276	162	Y>C		No	ClinGen ExAC gnomAD
rs1441544230 CA352486527	163	S>L		No	ClinGen gnomAD
rs147316998 CA2358274	163	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2358272 rs751431866	165	R>K		No	ClinGen ExAC gnomAD
CA2358271 rs765957342	166	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1417546482 CA352486446	167	G>E		No	ClinGen gnomAD
CA2358269 rs554908880	169	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2358270 rs554908880	169	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761550306 CA2358267	171	I>V		No	ClinGen ExAC gnomAD
CA352486355 rs1480656389	172	D>N		No	ClinGen gnomAD
rs777110387 CA2358266	174	M>I		No	ClinGen ExAC gnomAD
CA2358265 rs201477242	175	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2358263 rs775820030	176	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA352486251 rs1575472386	177	T>P		No	ClinGen Ensembl
rs61740485 CA2358261	178	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757545313 CA2358259	180	D>H		No	ClinGen ExAC gnomAD
CA352486194 rs757545313	180	D>N		No	ClinGen ExAC gnomAD
CA73737824 rs1006883483	181	V>I		No	ClinGen TOPMed
CA2358257 rs143844723	182	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs538092136 CA2358255	186	V>D		No	ClinGen 1000Genomes ExAC gnomAD
rs766167362 CA2358254	187	I>V		No	ClinGen ExAC gnomAD
CA2358253 rs757985062	188	M>T		No	ClinGen ExAC gnomAD
CA352486046 rs1394681299	190	S>G		No	ClinGen TOPMed
rs764826292 CA2358251	191	R>K		No	ClinGen ExAC TOPMed gnomAD
rs142097717 CA2358250	193	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2358248 rs201421841	193	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2358249 rs142097717	193	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1048984516 CA73737733	194	A>T		No	ClinGen gnomAD
CA2358246 rs199541077	196	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760899643 CA2358247	196	R>W		No	ClinGen ExAC gnomAD
CA2358243 rs746371643	197	F>L		No	ClinGen ExAC
rs1239635146 CA352485952	198	W>S		No	ClinGen gnomAD
CA73737692 rs975804323	200	W>L		No	ClinGen Ensembl
rs770978853 CA2358241	201	V>L		No	ClinGen ExAC gnomAD
rs1232165730 CA352485899	202	G>R		No	ClinGen gnomAD
CA2358240 rs148192294	204	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA352485803 CA352485807 rs374975497	205	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2358237 rs754811548	206	D>G		No	ClinGen ExAC
CA73737673 rs944176654	206	D>N		No	ClinGen Ensembl
CA352485765 rs1288828943	208	G>S		No	ClinGen TOPMed gnomAD
CA2358235 rs758464196 COSM1045332	211	K>E	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2358234 rs758464196	211	K>Q		No	ClinGen ExAC gnomAD
CA2358233 rs750362600	211	K>R		No	ClinGen ExAC gnomAD
rs1559498580 CA352485675	213	K>N		No	ClinGen Ensembl
rs764877731 CA2358232	214	Q>R		No	ClinGen ExAC gnomAD
CA352485628 rs1187524776	215	E>G		No	ClinGen TOPMed
rs1447286047 CA352485642	215	E>K		No	ClinGen TOPMed
CA352485619 rs753550632	216	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1173668574 CA352485618	216	L>H		No	ClinGen TOPMed
rs753550632 CA2358230	216	L>V		No	ClinGen ExAC TOPMed gnomAD
CA352485560 rs1395028951	219	S>G		No	ClinGen TOPMed
rs761105933 CA2358228	220	N>K		No	ClinGen ExAC TOPMed gnomAD
rs532376742 CA2358229	220	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA352485509 rs1486842229	222	V>A		No	ClinGen gnomAD
rs767856673 CA2358226	222	V>M		No	ClinGen ExAC gnomAD
CA2358224 rs763627456	223	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs759956225 CA2358225	223	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2358223 rs145256818	224	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352485481 rs1281335055	225	I>V		No	ClinGen gnomAD
CA352485455 rs1375439194	226	C>S		No	ClinGen TOPMed gnomAD
CA352485414 rs1311537948	229	G>V		No	ClinGen TOPMed
CA2358221 COSM1131428 rs139823108	230	T>M	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA352485390 rs1383113052	231	D>H		No	ClinGen TOPMed gnomAD
rs1433610842 CA352485260	235	K>R		No	ClinGen gnomAD
CA2358219 rs542879789	236	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542879789 CA2358218	236	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1469489761 CA352485215	238	S>F		No	ClinGen TOPMed
rs61740484 RCV000884423 CA2358217	239	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2358216 rs201489237	239	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1193719879 CA352485157	242	V>L		No	ClinGen gnomAD
rs149792396 CA2358215	243	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA73737526 rs149792396	243	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA352485094 COSM1222256 rs1453538277	245	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1016993759 CA73737519	246	G>E		No	ClinGen TOPMed
rs1210130963 CA352485089	246	G>R		No	ClinGen TOPMed gnomAD
CA73737516 rs1004738552	248	S>P		No	ClinGen gnomAD
rs1485404180 CA352485015	251	D>G		No	ClinGen gnomAD
rs756805740 CA2358214	251	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2358212 rs144678242	252	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA73736482 rs371789004	253	M>I		No	ClinGen Ensembl
CA2358186 rs761903174	253	M>L		No	ClinGen ExAC gnomAD
CA2358184 rs764346103	253	M>R		No	ClinGen ExAC gnomAD
rs764346103 CA2358183	253	M>T		No	ClinGen ExAC gnomAD
rs761903174 CA2358185	253	M>V		No	ClinGen ExAC gnomAD
rs760975467 CA2358182	255	P>L		No	ClinGen ExAC TOPMed gnomAD
rs556248471 CA2358181	256	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352484889 rs1363255522	256	Q>R		No	ClinGen gnomAD
CA2358179 rs146386127	258	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2358178 rs146386127	258	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2358180 rs770738835	258	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2358177 rs769213622	259	T>P		No	ClinGen ExAC gnomAD
CA352484869 rs1469171876	260	I>V		No	ClinGen gnomAD
CA73736459 rs865780108	261	Q>*		No	ClinGen Ensembl
rs943800808 CA73736455	262	E>A		No	ClinGen TOPMed gnomAD
rs374887819 CA2358175	262	E>D		No	ClinGen ExAC TOPMed gnomAD
rs754679092 CA2358174	267	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1302198222 CA352484803	268	L>M		No	ClinGen gnomAD
CA352484788 rs1575471971	269	N>S		No	ClinGen Ensembl
CA352484718 rs1316166737	272	E>G		No	ClinGen gnomAD
CA73736410 rs377104255	272	E>K		No	ClinGen ESP TOPMed
CA2358168 rs1553632554	273	C>G		No	ClinGen Ensembl
CA352484698 rs1385566492	273	C>Y		No	ClinGen gnomAD
CA352484668 rs1559498344	274	D>E		No	ClinGen Ensembl
CA352484685 rs1396237627	274	D>N		No	ClinGen TOPMed
rs1159292131 CA352484663	275	N>D		No	ClinGen gnomAD
CA2358167 rs750914248	275	N>S		No	ClinGen ExAC gnomAD
CA73736400 rs1022292977	279	N>S		No	ClinGen gnomAD
CA352484563 rs1193190257	280	F>L		No	ClinGen gnomAD
CA352484552 rs1455006302	280	F>L		No	ClinGen gnomAD
rs1319375627 CA352484544	281	T>A		No	ClinGen TOPMed
CA2358166 rs150941830	281	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2358165 rs757416592	284	P>L		No	ClinGen ExAC gnomAD
CA352484504 rs1191681298	284	P>S		No	ClinGen gnomAD
rs764256389 CA2358163	285	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1258127067 CA352484293	294	M>I		No	ClinGen TOPMed
CA352484276 rs1268133929	295	M>K		No	ClinGen gnomAD
CA352484271 rs1268133929	295	M>T		No	ClinGen gnomAD
rs1372910442 CA352484280	295	M>V		No	ClinGen TOPMed gnomAD
CA2358160 rs143437619	296	C>Y		No	ClinGen 1000Genomes ExAC TOPMed
rs762763127 CA2358159	297	A>T		No	ClinGen ExAC gnomAD
rs138420412 CA2358158	297	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1023577105 CA73736290	301	H>Q		No	ClinGen TOPMed gnomAD
CA2358155 rs776164601	302	R>G		No	ClinGen ExAC gnomAD
rs1203331755 CA352483833	308	E>A		No	ClinGen gnomAD
rs1274785333 CA352483766	311	G>*		No	ClinGen gnomAD
rs756279008 CA2358128	311	G>A		No	ClinGen ExAC TOPMed gnomAD
rs752759678 CA2358127	312	E>G		No	ClinGen ExAC TOPMed gnomAD
CA2358126 rs781115491	313	P>S		No	ClinGen ExAC TOPMed gnomAD
rs751697846 CA352483687	315	V>I		No	ClinGen ExAC TOPMed gnomAD
rs751697846 CA2358124	315	V>L		No	ClinGen ExAC TOPMed gnomAD
CA352483671 rs1203983354	316	C>R		No	ClinGen TOPMed
rs1355490700 CA352483619	317	S>F		No	ClinGen gnomAD
CA2358123 rs370973481	318	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376546957 CA2358120	321	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs376546957 CA2358121	321	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405080380 CA352483488	322	W>R		No	ClinGen gnomAD
rs1176281812 CA352483415	324	L>V		No	ClinGen gnomAD
rs1470342720 CA352483389	325	V>M		No	ClinGen gnomAD
CA2358118 rs775124098	328	V>E		No	ClinGen ExAC gnomAD
CA352483319 rs1479602693	328	V>M		No	ClinGen TOPMed
rs1367678217 CA352483280	329	S>I		No	ClinGen Ensembl
rs1223620622 CA352483227	331	G>D		No	ClinGen gnomAD
rs1273761972 CA352483232	331	G>R		No	ClinGen TOPMed gnomAD
rs773837813 CA352483193	333	G>A		No	ClinGen ExAC TOPMed gnomAD
CA2358114 rs773837813	333	G>D		No	ClinGen ExAC TOPMed gnomAD
rs773837813 CA2358115	333	G>V		No	ClinGen ExAC TOPMed gnomAD
CA2358113 rs771446622	335	Q>R		No	ClinGen ExAC gnomAD
rs770494012 CA2358110 COSM3775072	338	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA352483055 COSM1617658 rs1394158343	339	A>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs748577656 CA2358109	340	P>S		No	ClinGen ExAC gnomAD
CA73735801 rs915834924	341	P>S		No	ClinGen TOPMed gnomAD
rs781369263 CA2358106	343	Y>C		No	ClinGen ExAC gnomAD
CA73735784 rs991394977	345	Q>*		No	ClinGen TOPMed gnomAD
CA352482959 rs1253319349 CA352482957	345	Q>H		No	ClinGen TOPMed gnomAD
CA73735774 rs960208752	345	Q>R		No	ClinGen Ensembl
rs754969060 CA2358105	348	S>Y		No	ClinGen ExAC gnomAD
rs906880546 CA73735748	349	Y>H		No	ClinGen TOPMed gnomAD
CA352482911 rs1213293947	350	Q>*		No	ClinGen gnomAD
CA352482808 rs1260066505	355	D>E		No	ClinGen gnomAD
rs1046596238 CA73735735	355	D>G		No	ClinGen TOPMed
CA352482806 rs1215220833	356	C>R		No	ClinGen gnomAD
CA352482781 rs1237707131	357	L>P		No	ClinGen TOPMed
rs753698673 CA2358102 CA2358101	359	G>R		No	ClinGen ExAC TOPMed gnomAD
rs377029284 CA2358099	360	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1186259 CA2358100 rs763862955	360	Q>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1302481980 CA352482725	360	Q>P		No	ClinGen gnomAD
CA73735663 rs372764525	361	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs752546731 CA2358098	361	A>P		No	ClinGen ExAC gnomAD
CA2358097 rs372764525	361	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs931377920 CA73735657	362	L>V		No	ClinGen TOPMed
rs1391916141 CA352482685	363	A>T		No	ClinGen gnomAD
CA352482671 rs1157090711	364	L>Q		No	ClinGen TOPMed
rs919995273 CA73735648	365	P>T		No	ClinGen TOPMed gnomAD
CA73735639 rs972833524	366	A>V		No	ClinGen TOPMed gnomAD
CA352482634 rs1163800769	367	P>A		No	ClinGen TOPMed
rs950784745 CA73735632	369	R>G		No	ClinGen Ensembl
CA2358095 rs143880961	370	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150668992 CA2358094	370	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA352482570 rs1260988185	372	L>F		No	ClinGen gnomAD
rs1488663214 CA352482549	374	A>T		No	ClinGen gnomAD
CA2358092 rs368966860	374	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2358091 rs776259064	375	L>H		No	ClinGen ExAC TOPMed gnomAD
CA352482535 rs776259064	375	L>P		No	ClinGen ExAC TOPMed gnomAD
CA352482530 rs1244820045	376	P>A		No	ClinGen TOPMed
rs61740480 CA73735584	377	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2358087 rs562229247	380	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA352482459 rs1295538289	381	L>F		No	ClinGen gnomAD
rs758677186 CA2358084	383	A>D		No	ClinGen ExAC gnomAD
rs540693963 CA73735505	384	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs1304174664 CA352482393	386	L>W		No	ClinGen gnomAD

No associated diseases with Q9UI38

1 regional properties for Q9UI38

Type	Name	Position	InterPro Accession
domain	Serine proteases, trypsin domain	93 - 358	IPR001254

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum	May also localize to cytoplasmic membranes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).

2 GO annotations of molecular function

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

1 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.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P05049	snk	Serine protease snake	Drosophila melanogaster (Fruit fly)	PR
P35030	PRSS3	Trypsin-3	Homo sapiens (Human)	PR
E5RG02	PRSS46P	Putative serine protease 46	Homo sapiens (Human)	PR
P0CW18	PRSS56	Serine protease 56	Homo sapiens (Human)	PR
Q6UWB4	PRSS55	Serine protease 55	Homo sapiens (Human)	PR
P15119	Mcpt2	Mast cell protease 2	Mus musculus (Mouse)	PR
Q9DBI0	Tmprss6	Transmembrane protease serine 6	Mus musculus (Mouse)	PR
P98064	Masp1	Mannan-binding lectin serine protease 1	Mus musculus (Mouse)	PR
Q402U7	Prss44	Serine protease 44	Mus musculus (Mouse)	PR
Q8CHN8	Masp1	Mannan-binding lectin serine protease 1	Rattus norvegicus (Rat)	PR
Q6IE63	Prss46	Serine protease 46	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MGRWCQTVAR	GQRPRTSAPS	RAGALLLLLL	LLRSAGCWGA	GEAPGALSTA	DPADQSVQCV
70	80	90	100	110	120
PKATCPSSRP	RLLWQTPTTQ	TLPSTTMETQ	FPVSEGKVDP	YRSCGFSYEQ	DPTLRDPEAV
130	140	150	160	170	180
ARRWPWMVSV	RANGTHICAG	TIIASQWVLT	VAHCLIWRDV	IYSVRVGSPW	IDQMTQTASD
190	200	210	220	230	240
VPVLQVIMHS	RYRAQRFWSW	VGQANDIGLL	KLKQELKYSN	YVRPICLPGT	DYVLKDHSRC
250	260	270	280	290	300
TVTGWGLSKA	DGMWPQFRTI	QEKEVIILNN	KECDNFYHNF	TKIPTLVQII	KSQMMCAEDT
310	320	330	340	350	360
HREKFCYELT	GEPLVCSMEG	TWYLVGLVSW	GAGCQKSEAP	PIYLQVSSYQ	HWIWDCLNGQ
370	380
ALALPAPSRT	LLLALPLPLS	LLAAL