AiPD: Autoinhibited Protein Database

Q15084

Gene name	PDIA6 (ERP5, P5, TXNDC7)
Protein name	Protein disulfide-isomerase A6
Names	Endoplasmic reticulum protein 5, ER protein 5, ERp5, Protein disulfide isomerase P5, Thioredoxin domain-containing protein 7
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10130
EC number	5.3.4.1: Transposing S-S bonds
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

112-191 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

112-191 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

6 structures for Q15084

Entry ID	Method	Resolution	Chain	Position	Source
1X5D	NMR	-	A	161-280	PDB
3VWW	X-ray	193 A	A/B	25-140	PDB
3W8J	X-ray	210 A	A/B	20-140	PDB
4EF0	X-ray	150 A	A/B	27-140	PDB
4GWR	X-ray	181 A	A/B	160-274	PDB
AF-Q15084-F1	Predicted				AlphaFoldDB

356 variants for Q15084

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA345820557 rs1433506793	2	A>T		No	ClinGen gnomAD
CA345820549 COSM1305537 rs1362415992	3	L>F	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA345820551 rs1362415992	3	L>I		No	ClinGen gnomAD
rs1321890349 CA345820547	3	L>P		No	ClinGen gnomAD
CA345820539 rs1415997989	5	V>L		No	ClinGen gnomAD
rs1167950324 CA345820532	6	L>F		No	ClinGen gnomAD
rs1241371684 CA345827510	7	G>A		No	ClinGen Ensembl
rs375543419 CA1528774	7	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1528743 rs373974198	9	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA345827411 rs1206041969	22	S>Y		No	ClinGen TOPMed
rs369784032 CA1528738	24	S>N		No	ClinGen ESP ExAC gnomAD
rs369784032 CA1528739	24	S>T		No	ClinGen ESP ExAC gnomAD
rs768073072 CA1528735	29	E>*		No	ClinGen ExAC TOPMed gnomAD
rs768073072 CA345827369	29	E>K		No	ClinGen ExAC TOPMed gnomAD
rs768073072 CA345827368	29	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1199521462 CA345827352	31	T>I		No	ClinGen TOPMed gnomAD
rs1199521462 CA345827351	31	T>N		No	ClinGen TOPMed gnomAD
CA1528733 rs374281709	32	P>S		No	ClinGen ESP ExAC gnomAD
rs200931417 CA1528730	34	N>S		No	ClinGen ExAC TOPMed gnomAD
rs745642234 CA1528731	34	N>Y		No	ClinGen ExAC gnomAD
CA1528729 rs757200644	35	F>I		No	ClinGen ExAC gnomAD
CA1528727 rs369542559	36	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1528728 rs369542559	36	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1528726 rs755017976	37	R>*		No	ClinGen ExAC TOPMed gnomAD
CA1528725 rs559528366	37	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345827316 rs1327820735	38	E>K		No	ClinGen TOPMed
CA1528724 rs766576672	39	V>L		No	ClinGen ExAC TOPMed gnomAD
CA345827301 rs1298591374	40	I>F		No	ClinGen TOPMed
rs146733816 CA1528722	43	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA42549524 rs935426266	43	D>N		No	ClinGen Ensembl
rs200167111 CA1528719	48	V>L		No	ClinGen ExAC gnomAD
rs771820742 CA1528715	49	E>*		No	ClinGen ExAC TOPMed gnomAD
rs771820742 CA1528716	49	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1528714 rs745566424	50	F>I		No	ClinGen ExAC
CA1528713 CA1528712 rs749186475	50	F>L		No	ClinGen ExAC gnomAD
rs756138282 CA345827224	51	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs756138282 CA1528709	51	Y>F		No	ClinGen ExAC TOPMed
rs756138282 CA1528710	51	Y>S		No	ClinGen ExAC TOPMed
rs780144912 CA1528707	52	A>D		No	ClinGen ExAC
CA1528708 rs751637427	52	A>S		No	ClinGen ExAC
rs1259391599 CA345827215	53	P>S		No	ClinGen gnomAD
rs765592534 CA1528704	54	W>L		No	ClinGen ExAC TOPMed gnomAD
CA1528705 CA42549460 rs61740757	54	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1281567001 CA345827192	55	C>R		No	ClinGen gnomAD
rs756642636 CA1528681	57	H>R		No	ClinGen ExAC TOPMed gnomAD
CA1528680 rs753288208	58	C>R		No	ClinGen ExAC gnomAD
CA1528679 rs767069611	58	C>Y		No	ClinGen ExAC gnomAD
CA1528678 rs759134528	59	Q>R		No	ClinGen ExAC
CA1528677 rs773973311	60	R>T		No	ClinGen ExAC
CA1528676 rs765946559	64	E>A		No	ClinGen ExAC TOPMed gnomAD
CA1528675 rs762709784	65	W>G		No	ClinGen ExAC
CA345827124 rs1165272080	65	W>S		No	ClinGen gnomAD
rs1456330004 CA345827101	68	A>S		No	ClinGen TOPMed gnomAD
CA345827100 rs1405531266	68	A>V		No	ClinGen gnomAD
rs756552782 CA345827052	74	D>N		No	ClinGen ExAC TOPMed gnomAD
rs756552782 CA1528660	74	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1455479622 CA345827016	79	G>D		No	ClinGen gnomAD
CA42546561 rs1038630476	83	A>S		No	ClinGen gnomAD
CA345826993 rs1038630476	83	A>T		No	ClinGen gnomAD
CA1528656 rs751004184	84	D>G		No	ClinGen ExAC gnomAD
CA1528657 rs755612624	84	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1216767091 CA345826981	85	K>E		No	ClinGen gnomAD
rs1558445569 CA345826978	85	K>R		No	ClinGen Ensembl
rs768426261 CA1528655	86	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs368004204 CA1528654	88	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1349185260 CA345826941	91	G>C		No	ClinGen gnomAD
CA345826936 rs1303540367	92	Q>E		No	ClinGen gnomAD
rs146299443 CA42546521	96	Q>R		No	ClinGen ESP gnomAD
rs768574733 CA1528649	99	P>R		No	ClinGen ExAC gnomAD
rs1310804917 CA345826871	101	I>M		No	ClinGen gnomAD
rs1436527755 CA345826861	103	I>V		No	ClinGen gnomAD
rs760379382 CA42546499	106	S>C		No	ClinGen TOPMed gnomAD
CA345826827 rs1426884479	108	K>E		No	ClinGen gnomAD
rs1426884479 CA345826828	108	K>Q		No	ClinGen gnomAD
TCGA novel	109	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1528647 rs774248734	112	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs771075911 CA345826776	115	Q>E		No	ClinGen ExAC gnomAD
rs771075911 CA1528646	115	Q>K		No	ClinGen ExAC gnomAD
rs1458491235 CA345826773	115	Q>R		No	ClinGen gnomAD
rs773496098 CA1528622	116	G>A		No	ClinGen ExAC TOPMed gnomAD
CA1528621 rs770112021	117	G>S		No	ClinGen ExAC TOPMed gnomAD
CA42544348 rs1020125963	119	T>A		No	ClinGen Ensembl
rs781646985 CA1528619	120	G>S		No	ClinGen ExAC gnomAD
rs769092512 CA1528618	122	A>T		No	ClinGen ExAC gnomAD
rs1572659623 CA345826716	123	I>V		No	ClinGen Ensembl
CA345826699 rs1298660969	125	D>V		No	ClinGen gnomAD
rs747404455 CA1528617	126	A>G		No	ClinGen ExAC
rs747404455 CA345826692	126	A>V		No	ClinGen ExAC
CA1528613 COSM1195454 rs749930440	127	A>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	128	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	129	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1528610 rs753521348	129	S>T		No	ClinGen ExAC gnomAD
rs1386682576 CA345826667	131	L>V		No	ClinGen Ensembl
CA1528608 rs763811699	132	R>C		No	ClinGen ExAC gnomAD
CA345826662 rs763811699	132	R>G		No	ClinGen ExAC gnomAD
CA1528607 rs199977483	132	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752493585 CA345826650	134	L>F		No	ClinGen ExAC gnomAD
CA1528606 rs752493585	134	L>V		No	ClinGen ExAC gnomAD
CA1528603 rs147512716	135	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	136	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs905553118 CA42544298	137	D>G		No	ClinGen gnomAD
CA1528602 rs765433049	137	D>Y		No	ClinGen ExAC gnomAD
CA1528601 rs762084005	138	R>H		No	ClinGen ExAC gnomAD
rs768841299 CA1528599	140	G>R		No	ClinGen ExAC gnomAD
CA345826610 rs1307704597	141	G>R		No	ClinGen gnomAD
rs775783522 CA1528597	142	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1528598 rs138769467	142	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	143	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1528594 rs760021305	144	G>R		No	ClinGen ExAC TOPMed gnomAD
CA42544262 rs867072199	145	G>E		No	ClinGen Ensembl
CA345826589 rs143589785 CA1528593	145	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA42544259 rs896930209	146	Y>C		No	ClinGen Ensembl
TCGA novel	146	Y>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364734112 CA345826565	148	S>F		No	ClinGen gnomAD
rs748883791 CA1528592	150	K>E		No	ClinGen ExAC gnomAD
CA1528591 rs777469088	150	K>T		No	ClinGen ExAC gnomAD
CA345826551 rs1361616175	151	Q>E		No	ClinGen gnomAD
rs777192995 CA1528571	152	G>D		No	ClinGen ExAC gnomAD
rs1558441657 CA345826527	153	R>G		No	ClinGen Ensembl
CA345826524 rs1484555859	153	R>K		No	ClinGen gnomAD
rs1282459481 CA345826512	155	D>N		No	ClinGen gnomAD
rs755773564 CA1528570	156	S>R		No	ClinGen ExAC gnomAD
CA345826494 rs1338830157	157	S>L		No	ClinGen gnomAD
CA1528569 rs747780198	158	S>N		No	ClinGen ExAC gnomAD
rs1292867808 CA345826464	161	D>G		No	ClinGen gnomAD
rs1327203454 CA345826467	161	D>H		No	ClinGen gnomAD
CA345826460 rs1413373217	162	V>M		No	ClinGen gnomAD
rs1314089930 CA345826451	163	I>T		No	ClinGen TOPMed gnomAD
CA345826453 rs1165317609	163	I>V		No	ClinGen gnomAD
rs754821323 CA1528567	164	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1176839508 CA345826438	165	L>Q		No	ClinGen TOPMed
CA1528566 rs766401605	165	L>V		No	ClinGen ExAC TOPMed gnomAD
rs764128632 CA1528562	168	D>E		No	ClinGen ExAC
rs528723508 CA1528563 COSM1526925	168	D>N	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed
rs760900622 CA1528561	169	S>G		No	ClinGen ExAC TOPMed gnomAD
CA42543698 rs907230899	169	S>R		No	ClinGen Ensembl
CA345826398 rs1423961532	171	D>G		No	ClinGen gnomAD
CA345826379 rs1186766725	173	N>K		No	ClinGen gnomAD
CA345826377 rs1327024954	174	V>L		No	ClinGen TOPMed
CA42543695 rs1044420234	175	L>V		No	ClinGen gnomAD
TCGA novel	176	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466399084 CA345826355	177	S>I		No	ClinGen TOPMed gnomAD
rs1188180131 CA345826339	179	D>E		No	ClinGen gnomAD
rs752892203 CA1528560	179	D>H		No	ClinGen ExAC TOPMed gnomAD
rs917256585 CA42543688	183	V>I		No	ClinGen TOPMed
rs767813368 CA1528559	184	E>K		No	ClinGen ExAC gnomAD
rs373388851 CA1528557	186	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs771397904 CA1528556	188	P>S		No	ClinGen ExAC TOPMed gnomAD
rs866365884 CA42543675	191	G>R		No	ClinGen Ensembl
CA1528553 rs769221667	193	C>Y		No	ClinGen ExAC gnomAD
CA1528552 rs542976014	194	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs766756529 CA1528534	196	L>V		No	ClinGen ExAC gnomAD
CA1528533 rs763479949	198	P>S		No	ClinGen ExAC
rs773600727 CA345826188	199	E>D		No	ClinGen ExAC TOPMed gnomAD
CA42543130 rs761212881	203	A>S		No	ClinGen ExAC gnomAD
CA1528530 rs761212881	203	A>T		No	ClinGen ExAC gnomAD
rs1263024721 CA345826162	203	A>V		No	ClinGen TOPMed
rs776267394 CA1528529	205	S>L		No	ClinGen ExAC gnomAD
rs899685061 CA42543127	207	V>I		No	ClinGen TOPMed
CA345826141 rs899685061	207	V>L		No	ClinGen TOPMed
CA42543124 rs1039601878	208	K>E		No	ClinGen Ensembl
CA1528528 rs768388716	209	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1394592141 CA345826117	210	Q>H		No	ClinGen gnomAD
CA345826112 COSM269864 rs1191878101	211	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs369014875 CA42543121	212	K>I		No	ClinGen gnomAD
CA345826092 rs4807	214	K>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_022152 CA1528525 rs4807	214	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA345826093 rs4807	214	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778704221 CA42543110	216	K>R		No	ClinGen ExAC TOPMed gnomAD
rs778704221 CA1528523	216	K>T		No	ClinGen ExAC TOPMed gnomAD
rs780196239 CA42543109	218	A>E		No	ClinGen Ensembl
rs752689582 CA1528521	219	A>V		No	ClinGen ExAC gnomAD
rs781299912 CA1528520	220	V>M		No	ClinGen ExAC TOPMed gnomAD
CA345826057 rs1412718749	221	D>N		No	ClinGen TOPMed
rs1572655501 CA345826046	222	A>G		No	ClinGen Ensembl
CA345826049 rs1369079372	222	A>T		No	ClinGen gnomAD
rs1572655501 CA345826045	222	A>V		No	ClinGen Ensembl
CA345826042 rs1319640745	223	T>A		No	ClinGen TOPMed
CA345826034 rs1572655479	224	V>G		No	ClinGen Ensembl
rs149768142 CA1528518	225	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	226	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1572655460 CA345826012	227	V>G		No	ClinGen Ensembl
CA345826009 rs1320001420	228	L>V		No	ClinGen gnomAD
rs11545887 CA42543085	229	A>P		No	ClinGen Ensembl
CA1528516 rs182465865	231	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345825990 rs372148080	232	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs372148080 CA1528515	232	Y>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs150615615 CA1528513	233	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA345825959 rs1333909832	234	I>M		No	ClinGen TOPMed gnomAD
CA1528485 rs773151537	236	G>E		No	ClinGen ExAC TOPMed gnomAD
CA345825908 rs1297516351	242	I>T		No	ClinGen gnomAD
rs747082729 CA1528483	243	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1572653832 CA345825896	244	Q>E		No	ClinGen Ensembl
CA345825893 rs1402542892	244	Q>R		No	ClinGen gnomAD
rs368209673 CA1528480	247	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA345825867 rs1167495235	248	S>P		No	ClinGen gnomAD
rs529354043 CA1528479	249	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA345825847 rs1173078440	251	D>A		No	ClinGen TOPMed
CA1528476 rs778421190	254	G>S		No	ClinGen ExAC gnomAD
CA345825818 rs1239410961	255	G>A		No	ClinGen gnomAD
rs1804106 CA42538851	256	R>L		No	ClinGen gnomAD
rs1804106 CA345825815	256	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs752235353 CA1528474	256	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1528473 rs531602484	257	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs970598016 CA42538837	257	T>I		No	ClinGen Ensembl
rs1296669481 CA345825795	260	D>N		No	ClinGen TOPMed
CA1528471 rs751231099	262	V>M		No	ClinGen ExAC TOPMed gnomAD
CA1528470 rs149489060	264	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA42538747 rs933962520	264	R>Q		No	ClinGen TOPMed
CA1528469 rs149489060	264	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA345825766 rs1366180625	265	A>P		No	ClinGen TOPMed
rs959035845 CA42538745	266	L>R		No	ClinGen Ensembl
CA1528467 rs545650021	270	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150300054 CA1528466	271	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1016231219 CA42538680	273	A>T		No	ClinGen TOPMed gnomAD
CA1528464 rs781237247	274	P>L		No	ClinGen ExAC TOPMed gnomAD
CA345825687 rs1363520104	277	E>V		No	ClinGen gnomAD
rs1199139085 CA345825682	278	L>P		No	ClinGen gnomAD
rs778245173 CA1528442	282	I>S		No	ClinGen ExAC TOPMed gnomAD
rs180783566 CA1528441	283	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs189599067 CA1528439	283	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1345840004 CA345825638	283	N>S		No	ClinGen TOPMed gnomAD
CA345825635 rs1234280948	284	E>K		No	ClinGen gnomAD
rs1409834795 CA345825627	285	D>N		No	ClinGen gnomAD
rs755506919 CA1528438	286	I>V		No	ClinGen ExAC TOPMed gnomAD
rs746493782 CA1528437	287	A>T		No	ClinGen ExAC gnomAD
rs888558738 CA42537812	288	K>T		No	ClinGen TOPMed
CA345825593 rs1402305971	290	T>A		No	ClinGen gnomAD
CA345825591 rs371267030	290	T>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs371267030 CA1528436	290	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs750104571 CA1528434	294	H>D		No	ClinGen ExAC gnomAD
CA42537790 rs1013580862	294	H>P		No	ClinGen Ensembl
rs750104571 CA345825564	294	H>Y		No	ClinGen ExAC gnomAD
rs757056543 CA1528432	296	L>F		No	ClinGen ExAC TOPMed gnomAD
rs753634451 CA1528431	298	V>F		No	ClinGen ExAC gnomAD
CA345825538 rs753634451	298	V>I		No	ClinGen ExAC gnomAD
rs896567761 CA42537765	299	V>L		No	ClinGen gnomAD
rs764088011 CA1528429	301	V>G		No	ClinGen ExAC gnomAD
CA345825516 rs1478684453	302	L>V		No	ClinGen gnomAD
rs141048777 CA1528428	303	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774441766 CA1528427	304	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1558439321 CA345825505	304	H>R		No	ClinGen Ensembl
CA1528425 rs552290242	305	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773585841 CA1528423	308	T>I		No	ClinGen ExAC gnomAD
CA1528403 rs773496197	309	G>A		No	ClinGen ExAC gnomAD
CA345825459 rs773496197	309	G>V		No	ClinGen ExAC gnomAD
rs765530042 CA1528402	311	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1437821520 CA345825450	311	A>V		No	ClinGen TOPMed
TCGA novel	312	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1528400 rs777002140	312	G>D		No	ClinGen ExAC gnomAD
CA1528401 rs761985611	312	G>S		No	ClinGen ExAC gnomAD
CA42537594 rs1021197591	314	N>H		No	ClinGen Ensembl
CA1528397 rs140165721	317	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs772623518 CA1528396	318	E>D		No	ClinGen ExAC
rs745377281 CA1528395	320	L>P		No	ClinGen ExAC gnomAD
rs757725209 CA1528394	326	K>E		No	ClinGen ExAC TOPMed gnomAD
CA345825351 rs1440369172	327	Y>H		No	ClinGen gnomAD
TCGA novel	331	M>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1528393 rs144938847	331	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA42537543 rs1034156836	331	M>T		No	ClinGen Ensembl
TCGA novel	333	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1528374 rs375705255	335	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA345825269 rs1306752445	336	W>S		No	ClinGen TOPMed
CA42536372 rs1006751506	337	T>I		No	ClinGen TOPMed gnomAD
CA345825261 rs1006751506	337	T>K		No	ClinGen TOPMed gnomAD
CA1528372 rs150668392	338	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	339	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148440709 CA1528371	339	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs769560300 CA1528370	341	A>G		No	ClinGen ExAC gnomAD
CA1528369 rs747925474	343	S>F		No	ClinGen ExAC gnomAD
CA345825224 rs747925474	343	S>Y		No	ClinGen ExAC gnomAD
rs1420183995 CA345825223	344	E>K		No	ClinGen gnomAD
TCGA novel	344	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1528368 rs781185412	346	E>Q		No	ClinGen ExAC gnomAD
rs1572648869 CA345825199	347	T>N		No	ClinGen Ensembl
CA1528366 rs200773446	348	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA42536350 rs141560971	348	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs754006477 CA345825192	349	L>M		No	ClinGen ExAC TOPMed gnomAD
CA345825169 rs1189947361	352	G>E		No	ClinGen TOPMed
rs1572648755 CA345825153	354	F>L		No	ClinGen Ensembl
rs1572648768 CA345825158	354	F>V		No	ClinGen Ensembl
rs758525181 CA1528362	356	Y>S		No	ClinGen ExAC gnomAD
rs187929195 CA1528361	358	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA345825127 rs1313421736	359	M>V		No	ClinGen gnomAD
rs571578605 CA1528358 COSM302899	361	A>T	Variant assessed as Somatic; 0.0 impact. endometrium central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs774736094 CA1528357	363	N>S		No	ClinGen ExAC gnomAD
rs762367691 CA1528355	364	A>S		No	ClinGen ExAC TOPMed gnomAD
rs112875600 CA1528354	364	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM569523 CA42536270 rs138012463	365	R>C	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs747829615 CA1528352	365	R>H		No	ClinGen ExAC TOPMed gnomAD
CA345825089 rs747829615	365	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1528353 rs138012463	365	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372676531 CA1528351	367	M>I		No	ClinGen ESP ExAC gnomAD
CA345825060 rs1328452201	369	F>Y		No	ClinGen gnomAD
CA345825052 rs1464218845	370	A>V		No	ClinGen gnomAD
rs1171879549 CA345825042	372	L>Q		No	ClinGen gnomAD
rs1297838821 CA345825034	373	K>I		No	ClinGen TOPMed
rs746881958 CA1528349	374	G>A		No	ClinGen ExAC TOPMed gnomAD
rs546952394 CA1528347	380	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA345824970 rs140988540	382	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1357029147 CA345824967	383	E>K		No	ClinGen gnomAD
rs777956850 CA1528345	386	R>K		No	ClinGen ExAC TOPMed gnomAD
CA345824921 rs1558435856	387	E>D		No	ClinGen Ensembl
rs1379196300 CA345824918	388	L>F		No	ClinGen gnomAD
rs1349368535 CA345824914	389	S>A		No	ClinGen gnomAD
rs1310266237 CA345824909	389	S>F		No	ClinGen gnomAD
CA345824904 rs1386368839	390	F>S		No	ClinGen gnomAD
rs1316889460 CA345824892	392	R>C		No	ClinGen TOPMed
CA1528319 rs377194432	392	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs377194432 CA345824890	392	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA345824889 rs1458717521	393	G>S		No	ClinGen gnomAD
rs917573193 CA42533245	394	S>F		No	ClinGen TOPMed
rs755236077 CA1528317	395	T>M		No	ClinGen ExAC gnomAD
rs11545888 CA42533171	397	P>L		No	ClinGen Ensembl
CA1528315 rs549890568	397	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1432192751 CA345824857	399	G>*		No	ClinGen gnomAD
CA1528313 rs147031503	400	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368202472 CA1528311 CA345824845	401	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA42533133 rs183800454	402	A>D		No	ClinGen 1000Genomes TOPMed gnomAD
CA345824839 rs1572642359	402	A>S		No	ClinGen Ensembl
CA345824835 rs1214273602	403	F>L		No	ClinGen TOPMed gnomAD
rs1214273602 CA345824834	403	F>V		No	ClinGen TOPMed gnomAD
rs1016435371 CA345824824	404	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA42533112 rs1016435371	404	P>R		No	ClinGen TOPMed gnomAD
CA345824826 rs1355961916	404	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA42533106 rs1005846641	405	T>A		No	ClinGen TOPMed
rs541210055 CA345824813	406	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA42533104 COSM1326009 rs950452062	406	I>V	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA1528307 rs760425426	407	V>A		No	ClinGen ExAC TOPMed gnomAD
CA1528308 rs147882132	407	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1528309 rs147882132	407	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345824805 rs1387775823	408	E>G		No	ClinGen gnomAD
rs908972592 CA42533095	409	R>S		No	ClinGen TOPMed gnomAD
CA1528306 rs772192443	410	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1296906721 CA345824795	410	E>Q		No	ClinGen gnomAD
CA345824779 rs1465087052	412	W>*		No	ClinGen gnomAD
rs759332910 CA345824765	414	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1528303 rs759332910	414	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1480643040 CA345824749	416	D>G		No	ClinGen gnomAD
rs1223185183 CA345824753	416	D>N		No	ClinGen gnomAD
CA345824739 rs1191444545	418	E>K		No	ClinGen gnomAD
CA1528277 rs532264685	419	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA345824718 rs532264685	419	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs746215699 CA1528276	420	P>L		No	ClinGen ExAC gnomAD
rs1413525679 CA345824706	421	V>A		No	ClinGen gnomAD
CA1528275 rs150048716	421	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1471748337 CA345824696	423	D>N		No	ClinGen gnomAD
CA1528274 rs757791082	424	D>V		No	ClinGen ExAC TOPMed gnomAD
CA345824672 rs1346292049	426	D>Y		No	ClinGen TOPMed
CA345824645 rs754428498	429	D>E		No	ClinGen ExAC TOPMed gnomAD
CA345824652 rs1184340997	429	D>N		No	ClinGen gnomAD
CA1528272 rs777359982	430	V>E		No	ClinGen ExAC gnomAD
CA345824617 rs1300793446	434	D>N		No	ClinGen Ensembl
rs144025817 CA1528271	437	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA42532479 rs75657715	440	L>W		No	ClinGen gnomAD
CA345824567 rs1359124387	441	L>R		No	ClinGen gnomAD

No associated diseases with Q15084

6 regional properties for Q15084

Type	Name	Position	InterPro Accession
domain	Protein disulfide-isomerase, thioredoxin-like domain	30 - 125	IPR005788-1
domain	Protein disulfide-isomerase, thioredoxin-like domain	165 - 263	IPR005788-2
domain	Thioredoxin domain	2 - 133	IPR013766-1
domain	Thioredoxin domain	154 - 287	IPR013766-2
conserved_site	Thioredoxin, conserved site	47 - 65	IPR017937-1
conserved_site	Thioredoxin, conserved site	182 - 200	IPR017937-2

Functions

		Description
EC Number	5.3.4.1	Transposing S-S bonds
Subcellular Localization	Endoplasmic reticulum lumen Cell membrane Melanosome	Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:12643545)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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).
endoplasmic reticulum chaperone complex	A protein complex that is located in the endoplasmic reticulum and is composed of chaperone proteins, including BiP, GRP94; CaBP1, protein disulfide isomerase (PDI), ERdj3, cyclophilin B, ERp72, GRP170, UDP-glucosyltransferase, and SDF2-L1.
endoplasmic reticulum lumen	The volume enclosed by the membranes of the endoplasmic reticulum.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
endoplasmic reticulum-Golgi intermediate compartment	A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport.
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 space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
melanosome	A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
protein disulfide isomerase activity	Catalysis of the rearrangement of both intrachain and interchain disulfide bonds in proteins.
protein-disulfide reductase activity	Catalysis of the reaction: a protein with reduced sulfide groups = a protein with oxidized disulfide bonds.

2 GO annotations of biological process

Name	Definition
protein folding	The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
response to endoplasmic reticulum stress	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q12404	MPD1	Protein disulfide-isomerase MPD1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q2KIL5	PDIA5	Protein disulfide-isomerase A5	Bos taurus (Bovine)	PR
Q8N807	PDILT	Protein disulfide-isomerase-like protein of the testis	Homo sapiens (Human)	PR
Q921X9	Pdia5	Protein disulfide-isomerase A5	Mus musculus (Mouse)	PR
Q922R8	Pdia6	Protein disulfide-isomerase A6	Mus musculus (Mouse)	PR
Q5I0H9	Pdia5	Protein disulfide-isomerase A5	Rattus norvegicus (Rat)	PR
Q63081	Pdia6	Protein disulfide-isomerase A6	Rattus norvegicus (Rat)	PR
Q10N04	PDIL5-1	Protein disulfide isomerase-like 5-1	Oryza sativa subsp japonica (Rice)	PR
Q67UF5	PDIL2-3	Protein disulfide isomerase-like 2-3	Oryza sativa subsp japonica (Rice)	PR
Q8GYD1	PDIL5-1	Protein disulfide-isomerase 5-1	Arabidopsis thaliana (Mouse-ear cress)	PR
O48773	PDIL2-3	Protein disulfide-isomerase 2-3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9MAU6	PDIL2-2	Protein disulfide-isomerase like 2-2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MALLVLGLVS	CTFFLAVNGL	YSSSDDVIEL	TPSNFNREVI	QSDSLWLVEF	YAPWCGHCQR
70	80	90	100	110	120
LTPEWKKAAT	ALKDVVKVGA	VDADKHHSLG	GQYGVQGFPT	IKIFGSNKNR	PEDYQGGRTG
130	140	150	160	170	180
EAIVDAALSA	LRQLVKDRLG	GRSGGYSSGK	QGRSDSSSKK	DVIELTDDSF	DKNVLDSEDV
190	200	210	220	230	240
WMVEFYAPWC	GHCKNLEPEW	AAAASEVKEQ	TKGKVKLAAV	DATVNQVLAS	RYGIRGFPTI
250	260	270	280	290	300
KIFQKGESPV	DYDGGRTRSD	IVSRALDLFS	DNAPPPELLE	IINEDIAKRT	CEEHQLCVVA
310	320	330	340	350	360
VLPHILDTGA	AGRNSYLEVL	LKLADKYKKK	MWGWLWTEAG	AQSELETALG	IGGFGYPAMA
370	380	390	400	410	420
AINARKMKFA	LLKGSFSEQG	INEFLRELSF	GRGSTAPVGG	GAFPTIVERE	PWDGRDGELP
430
VEDDIDLSDV	ELDDLGKDEL