AiPD: Autoinhibited Protein Database

Q9UHE8

Gene name	STEAP1 (PRSS24, STEAP)
Protein name	Metalloreductase STEAP1
Names	Six-transmembrane epithelial antigen of prostate 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26872
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-64 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-64 (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 Q9UHE8

Entry ID	Method	Resolution	Chain	Position	Source
6Y9B	EM	297 A	A/B/C	2-339	PDB
8UCD	EM	300 A	A/B/C	1-339	PDB
AF-Q9UHE8-F1	Predicted				AlphaFoldDB

276 variants for Q9UHE8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	3	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775300378 CA4332547	4	R>T		No	ClinGen ExAC gnomAD
rs1334262980 CA368105675	5	K>E		No	ClinGen gnomAD
rs1168257253 CA368105680	5	K>N		No	ClinGen TOPMed
CA162726132 rs562459272	6	D>V		No	ClinGen 1000Genomes
CA4332548 rs760328856	7	I>S		No	ClinGen ExAC gnomAD
CA4332549 rs763735952	9	N>S		No	ClinGen ExAC TOPMed gnomAD
rs746256618 CA162726133	13	L>I		No	ClinGen Ensembl
TCGA novel	15	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368105749 rs1315079636	15	K>R		No	ClinGen gnomAD
COSM1313381 rs753392231 CA4332550	16	M>I	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA368105765 rs1267629323	17	K>R		No	ClinGen gnomAD
TCGA novel	19	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368105785 rs1235937416	20	R>T		No	ClinGen gnomAD
CA368105800 rs1252278095	22	L>S		No	ClinGen TOPMed
rs764762434 CA4332553	24	E>D		No	ClinGen ExAC gnomAD
rs1182823619 CA368105812	24	E>K		No	ClinGen gnomAD
CA162726134 rs17866324	25	D>N		No	ClinGen Ensembl
rs758880644 CA4332555	26	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	27	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162726135 rs17869928	28	L>S		No	ClinGen Ensembl
CA368105862 rs1228135105	29	H>R		No	ClinGen gnomAD
CA368105859 rs1340567406	29	H>Y		No	ClinGen gnomAD
rs1275726717 CA368105868	30	K>E		No	ClinGen gnomAD
rs1219963577 CA368105881	31	D>E		No	ClinGen TOPMed gnomAD
CA4332576 rs755363804	32	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4332577 rs755363804	32	T>R		No	ClinGen ExAC TOPMed gnomAD
COSM602460 CA368105899 rs1192630466	34	E>D	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs756305874 CA4332579	35	T>I		No	ClinGen ExAC gnomAD
CA4332580 rs777722158	36	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1169008652 CA368105908	36	S>N		No	ClinGen TOPMed gnomAD
rs771964794 CA4332582	37	M>I		No	ClinGen ExAC
CA4332581 rs371063299	37	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA368105917 rs371063299	37	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1403576116 CA368105922	38	L>P		No	ClinGen gnomAD
rs1437275150 CA368105935	40	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs553569756 CA4332584	41	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA368105948 rs1482490080	42	V>A		No	ClinGen TOPMed
CA368105946 rs768459695 CA4332585	42	V>L		No	ClinGen ExAC gnomAD
rs768459695 COSM1319784 CA368105945	42	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs761458488 CA4332587	43	L>F		No	ClinGen ExAC TOPMed gnomAD
rs769480944 CA4332588	45	H>D		No	ClinGen ExAC TOPMed gnomAD
rs772656393 CA4332589	47	H>P		No	ClinGen ExAC gnomAD
CA4332590 VAR_053696 rs4015375	47	H>Q		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs375618251 CA4332591	48	Q>*		No	ClinGen ESP ExAC gnomAD
CA4332592 rs200418160	48	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs760074090 CA4332593	51	H>L		No	ClinGen ExAC TOPMed gnomAD
rs368652491 CA4332594	51	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4332595 rs138781089	53	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4332596 rs192792079	53	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778046788 CA4332597	54	E>D		No	ClinGen ExAC
rs1162660230 CA368106019	54	E>Q		No	ClinGen TOPMed gnomAD
COSM3778664 CA4332598 rs753918145	56	D>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA368106046 rs1406962851	57	C>*		No	ClinGen gnomAD
rs1167917695 CA368106075	62	Q>E		No	ClinGen TOPMed
rs982170332 CA162726200	62	Q>R		No	ClinGen TOPMed
rs374442133 CA4332599	63	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs71557077 CA162726201	64	T>A		No	ClinGen Ensembl
CA162726202 rs928554723	65	Q>H		No	ClinGen TOPMed gnomAD
CA4332600 rs778910446	66	E>Q		No	ClinGen ExAC gnomAD
CA4332601 rs746959889	67	L>V		No	ClinGen ExAC TOPMed gnomAD
CA368106122 rs1321451554	69	P>S		No	ClinGen gnomAD
rs1422395442 CA368106128	70	Q>*		No	ClinGen TOPMed
rs1446282328 CA368106141	71	W>*		No	ClinGen gnomAD
CA4332602 rs565591003	71	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368106142 rs1182556817	72	H>N		No	ClinGen gnomAD
CA4332605 rs747961520	75	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1327845765 CA368106178	77	I>V		No	ClinGen gnomAD
CA162726203 rs367749466	78	A>V		No	ClinGen ESP TOPMed
rs4015376 CA4332606	80	I>V		No	ClinGen ExAC gnomAD
TCGA novel	81	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162726204 rs3953584 COSM224329	81	I>M	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1269627853 CA368106206	81	I>R		No	ClinGen gnomAD
rs762473739 CA4332608	82	A>V		No	ClinGen ExAC TOPMed gnomAD
CA368106215 rs1162343477	83	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4332609 rs770589860	83	S>P		No	ClinGen ExAC gnomAD
CA4332610 rs773941822	84	L>V		No	ClinGen ExAC gnomAD
rs1409923470 CA368106236	87	L>F		No	ClinGen gnomAD
CA4332614 rs776059791	89	T>I		No	ClinGen ExAC gnomAD
CA4332616 rs761081630	90	L>F		No	ClinGen ExAC gnomAD
rs761081630 CA4332615	90	L>V		No	ClinGen ExAC gnomAD
CA4332619 rs765303046	93	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs757361648 CA4332618	93	E>K		No	ClinGen ExAC gnomAD
rs61737479 CA162726205	94	V>G		No	ClinGen Ensembl
rs1242919672 CA368106276	94	V>I		No	ClinGen TOPMed
CA4332620 rs750496522	96	H>D		No	ClinGen ExAC gnomAD
CA368106294 rs1166210481	96	H>Q		No	ClinGen TOPMed gnomAD
CA4332621 rs754964368	97	P>A		No	ClinGen ExAC TOPMed gnomAD
rs754964368 CA162726206	97	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4332623 rs532811070	101	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs532811070 CA4332624	101	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA4332625 rs532811070	101	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs201266997 CA4332627	102	H>R		No	ClinGen ExAC TOPMed gnomAD
CA4332626 rs748985562	102	H>Y		No	ClinGen ExAC gnomAD
CA4332628 rs774074314	103	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	104	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368106338 rs1199489169	104	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	105	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4332630 rs745360602	105	Y>F		No	ClinGen ExAC gnomAD
CA4332631 rs772759291	107	Y>C		No	ClinGen ExAC gnomAD
rs1250994087 CA368106358	107	Y>H		No	ClinGen gnomAD
CA4332632 rs776038298	109	I>L		No	ClinGen ExAC gnomAD
CA4332634 rs750961483	113	V>E		No	ClinGen ExAC gnomAD
rs1283877912 CA368106436	118	L>F		No	ClinGen gnomAD
CA368106434 rs1446080757	118	L>S		No	ClinGen TOPMed gnomAD
TCGA novel	119	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4332637 rs61737476	120	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762159939 CA4332638	121	V>I		No	ClinGen ExAC gnomAD
CA4332639 rs765431839	123	I>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	130	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766406635 CA4332642	131	L>V		No	ClinGen ExAC gnomAD
rs1328823967 CA368106519	132	P>T		No	ClinGen gnomAD
rs1562784625 CA368106529	133	G>A		No	ClinGen Ensembl
rs1562784625 CA368106528	133	G>D		No	ClinGen Ensembl
rs1232149969 CA368106531	134	V>M		No	ClinGen gnomAD
rs755948533 CA4332645	136	A>P		No	ClinGen ExAC TOPMed gnomAD
CA368106544 rs755948533	136	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1349515360 CA368106548	136	A>V		No	ClinGen gnomAD
CA368106553 rs1225913600	137	A>E		No	ClinGen gnomAD
CA4332647 rs137931598	138	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs777630691 CA4332646	138	I>V		No	ClinGen ExAC gnomAD
rs1252816752 CA368106563	139	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4332648 rs376248650	139	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4332649 rs778690758	140	Q>P		No	ClinGen ExAC gnomAD
CA368106575 rs1378433771	141	L>P		No	ClinGen gnomAD
rs4015377 CA162726207	141	L>V		No	ClinGen Ensembl
CA4332652 rs774801733	142	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA4332651 rs771726443	142	H>R		No	ClinGen ExAC gnomAD
rs1389897764 CA368106583	143	N>H		No	ClinGen gnomAD
CA368106615 rs1300400968	147	Y>C		No	ClinGen gnomAD
rs1352723263 CA368106625	148	K>N		No	ClinGen TOPMed
rs1306940027 CA368106660	153	W>*		No	ClinGen TOPMed
CA4332654 rs747552710	153	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1372747456 CA368106667	154	L>S		No	ClinGen gnomAD
CA4332655 rs769037451	154	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1322271124 CA368106683	156	K>R		No	ClinGen TOPMed
rs1432384586 CA368106690	157	W>*		No	ClinGen gnomAD
rs1296644880 CA368106717	160	T>I		No	ClinGen gnomAD
CA368106734 rs1186045506	163	Q>*		No	ClinGen TOPMed gnomAD
rs762142125 CA368106740	163	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs770042356 CA4332658	165	G>E		No	ClinGen ExAC TOPMed gnomAD
CA368106761 rs1176021190	167	L>V		No	ClinGen TOPMed
VAR_053697 rs2888782 CA162726208	169	F>L		No	ClinGen UniProt Ensembl dbSNP
rs1389023416 CA368106786	170	F>C		No	ClinGen gnomAD
CA368106800 rs1268085310	172	A>D		No	ClinGen gnomAD
rs773454536 CA4332659	173	V>I		No	ClinGen ExAC TOPMed gnomAD
CA368106823 rs766494139	176	A>E		No	ClinGen ExAC gnomAD
rs149449071 CA4332660	176	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4332661 rs766494139	176	A>V		No	ClinGen ExAC gnomAD
rs369205794 CA162726209	177	I>N		No	ClinGen ESP TOPMed
rs751527919 CA4332662	179	S>C		No	ClinGen ExAC gnomAD
rs760734771 CA4332663	179	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1163362809 CA368106848	180	L>P		No	ClinGen gnomAD
CA4332665 rs753718544 COSM3833434	181	S>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA4332664 rs200282338	181	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs757090228 CA4332666	183	P>A		No	ClinGen ExAC gnomAD
rs750109299 CA4332668	184	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4332669 rs61737480	185	R>M		No	ClinGen ExAC gnomAD
rs779678323 CA4332670 COSM1452669	186	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs143969433 CA4332671	186	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148631795 CA162726210	188	Y>C		No	ClinGen ESP TOPMed gnomAD
rs199539511 CA162726211	189	R>G		No	ClinGen 1000Genomes
CA162726212 rs1003916381	190	Y>C		No	ClinGen TOPMed
rs1278386421 CA368106925	192	L>F		No	ClinGen TOPMed
rs1207132648 CA368106929	193	L>P		No	ClinGen gnomAD
rs201507772 CA162726214	196	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs201507772 CA4332673	196	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1486283275 CA368106969	199	Q>*		No	ClinGen gnomAD
rs563020418 CA4332689	202	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs199817828 CA4332690	204	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1376917298 CA368107020	204	K>T		No	ClinGen gnomAD
CA368107032 rs1466363005	205	E>D		No	ClinGen gnomAD
rs748668981 CA4332691	207	A>D		No	ClinGen ExAC TOPMed gnomAD
rs748668981 CA368107044	207	A>G		No	ClinGen ExAC TOPMed gnomAD
CA368107041 rs1263531107	207	A>T		No	ClinGen TOPMed gnomAD
rs778178532 CA4332693	209	I>L		No	ClinGen ExAC gnomAD
rs1307541396 CA368107061	210	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1374118474 CA368107064	210	E>V		No	ClinGen gnomAD
rs1584193998 CA368107074	211	H>L		No	ClinGen Ensembl
rs771237276 CA4332695	212	D>E		No	ClinGen ExAC gnomAD
rs774408428 CA4332696	217	E>D		No	ClinGen ExAC gnomAD
rs746066238 CA4332697	220	V>M		No	ClinGen ExAC TOPMed gnomAD
CA4332699 rs775640759	225	V>A		No	ClinGen ExAC TOPMed gnomAD
CA4332698 rs772071057	225	V>M		No	ClinGen ExAC TOPMed gnomAD
rs773187218 CA4332702	229	I>M		No	ClinGen ExAC TOPMed gnomAD
CA162726256 rs377654050	229	I>V		No	ClinGen ESP gnomAD
rs1175312589 CA368107201	231	A>S		No	ClinGen gnomAD
rs1175312589 CA368107199	231	A>T		No	ClinGen gnomAD
CA162726257 rs749992047	231	A>V		No	ClinGen TOPMed gnomAD
rs542026363 CA368107205	232	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560222912 CA4332705	234	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368107221 rs1381108144	235	V>M		No	ClinGen TOPMed
rs750601916 CA162726258	236	T>S		No	ClinGen Ensembl
rs1246873210 CA368107238	238	I>L		No	ClinGen TOPMed gnomAD
rs1246873210 CA368107239	238	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	239	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	240	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754601014 CA4332707	241	V>L		No	ClinGen ExAC gnomAD
rs1306142967 CA368107270	243	D>Y		No	ClinGen gnomAD
TCGA novel	252	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756673217 CA4332711	253	I>T		No	ClinGen ExAC gnomAD
CA368107346 rs1309717561	253	I>V		No	ClinGen gnomAD
CA4332712 rs778233508	254	Q>P		No	ClinGen ExAC gnomAD
CA368107374 rs1334639070	255	S>G		No	ClinGen gnomAD
rs747181962 CA4332739	255	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4332740 COSM361021 rs768889100	256	K>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4332741 rs781354458	257	L>P		No	ClinGen ExAC gnomAD
CA368107391 rs1218445152	258	G>R		No	ClinGen gnomAD
CA368107394 rs1280726301	258	G>V		No	ClinGen gnomAD
rs770887909 CA4332744	262	L>F		No	ClinGen ExAC gnomAD
CA368107429 rs1261958100	264	L>P		No	ClinGen TOPMed
rs61737475 CA4332747	268	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs113739058 CA162726476	268	H>R		No	ClinGen Ensembl
CA368107456 COSM1227841 rs1477134602	269	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs775143929 CA4332748	271	I>T		No	ClinGen ExAC gnomAD
rs147507198 CA368107484	273	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4332749 rs147507198	273	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4332750 rs191888544	275	N>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1329021493 CA368107518	277	W>*		No	ClinGen gnomAD
rs141221553 CA162726477	279	D>G		No	ClinGen 1000Genomes
rs762298030 CA4332752	280	I>T		No	ClinGen ExAC TOPMed gnomAD
CA162726478 rs980983546	283	F>L		No	ClinGen TOPMed
rs1303938367 CA368107561	283	F>S		No	ClinGen gnomAD
CA368107568 rs1226177377	284	V>A		No	ClinGen gnomAD
rs765746472 CA162726479	285	W>*		No	ClinGen ExAC TOPMed gnomAD
rs765746472 CA4332753	285	W>C		No	ClinGen ExAC TOPMed gnomAD
CA4332754 rs750805517	286	Y>H		No	ClinGen ExAC gnomAD
CA368107593 rs1289466809	288	P>L		No	ClinGen TOPMed
rs1450129185 CA368107597	289	P>A		No	ClinGen gnomAD
CA368107601 rs1453155117	289	P>L		No	ClinGen TOPMed
rs780528334 CA4332756	292	M>T		No	ClinGen ExAC gnomAD
CA4332757 rs751837235	293	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1290646531 CA368107627	293	I>M		No	ClinGen gnomAD
CA4332759 rs781187494	293	I>T		No	ClinGen ExAC gnomAD
CA4332758 rs751837235	293	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1388736933 CA368107632	294	A>G		No	ClinGen gnomAD
rs1169182685 CA368107629	294	A>S		No	ClinGen TOPMed gnomAD
CA368107628 rs1169182685	294	A>T		No	ClinGen TOPMed gnomAD
rs140040879 CA4332761	296	F>V		No	ClinGen ESP ExAC TOPMed
rs1429696535 CA368107656	298	P>Q		No	ClinGen TOPMed
CA368107663 rs1431312250	299	I>T		No	ClinGen TOPMed
rs1263766154 CA368107666	300	V>I		No	ClinGen TOPMed
CA4332764 rs778884891	301	V>F		No	ClinGen ExAC gnomAD
CA368107695 rs1584195354	304	F>L		No	ClinGen Ensembl
rs1033534850 CA162726481	305	K>E		No	ClinGen TOPMed
CA4332766 rs548834855	305	K>N		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	306	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162726482 rs1053478936	306	S>R		No	ClinGen TOPMed
CA4332767 rs775195318	306	S>T		No	ClinGen ExAC gnomAD
rs1326984991 CA368107710	307	I>V		No	ClinGen gnomAD
CA4332768 rs878946011	309	F>S		No	ClinGen TOPMed
CA162726485 rs1009353767	312	C>R		No	ClinGen Ensembl
rs201074373 CA4332770	312	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs908325614 CA162726486	314	R>K		No	ClinGen TOPMed gnomAD
rs1332750970 CA368107764	315	K>N		No	ClinGen gnomAD
rs776048982 CA4332772	317	I>L		No	ClinGen ExAC gnomAD
CA4332773 rs761367448	317	I>M		No	ClinGen ExAC gnomAD
rs1469947613 CA368107777	317	I>T		No	ClinGen gnomAD
rs767382402 CA4332774	322	H>R		No	ClinGen ExAC TOPMed gnomAD
rs750972921 CA4332775	326	D>N		No	ClinGen ExAC TOPMed gnomAD
rs770404599 CA162726489	327	V>A		No	ClinGen TOPMed gnomAD
rs763487952 CA4332777	327	V>F		No	ClinGen ExAC TOPMed gnomAD
rs763487952 CA4332776	327	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1470417326 CA368107851	328	T>I		No	ClinGen TOPMed
rs1338826675 CA368107848	328	T>S		No	ClinGen TOPMed
rs375725121 CA162726490	330	I>T		No	ClinGen ESP TOPMed
rs374883978 CA4332778	331	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1464384017 CA368107878	332	K>I		No	ClinGen TOPMed
CA4332779 rs755317037	333	T>I		No	ClinGen ExAC gnomAD
rs1385375414 CA368107889	334	E>A		No	ClinGen gnomAD
CA368107899 rs1374672927	335	I>M		No	ClinGen TOPMed
rs781442948 CA4332780	335	I>V		No	ClinGen ExAC gnomAD
CA4332781 rs368403647	336	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756238507 CA4332782	337	S>C		No	ClinGen ExAC TOPMed gnomAD
CA368107916 rs1293935448	338	Q>L		No	ClinGen gnomAD
rs1337267651 CA368107928	340	L>Q		No	ClinGen TOPMed gnomAD

No associated diseases with Q9UHE8

1 regional properties for Q9UHE8

Type	Name	Position	InterPro Accession
domain	Ferric reductase transmembrane component-like domain	119 - 264	IPR013130

Functions

		Description
EC Number
Subcellular Localization	Endosome membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
endosome membrane	The lipid bilayer surrounding an endosome.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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
metal ion binding	Binding to a metal ion.
oxidoreductase activity	Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced.

2 GO annotations of biological process

Name	Definition
ion transport	The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
iron ion homeostasis	Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8NFT2	STEAP2	Metalloreductase STEAP2	Homo sapiens (Human)	PR
Q658P3	STEAP3	Metalloreductase STEAP3	Homo sapiens (Human)	PR
Q8BWB6	Steap2	Metalloreductase STEAP2	Mus musculus (Mouse)	PR
Q9GL50	STEAP1	Metalloreductase STEAP1	Sus scrofa (Pig)	PR

10	20	30	40	50	60
MESRKDITNQ	EELWKMKPRR	NLEEDDYLHK	DTGETSMLKR	PVLLHLHQTA	HADEFDCPSE
70	80	90	100	110	120
LQHTQELFPQ	WHLPIKIAAI	IASLTFLYTL	LREVIHPLAT	SHQQYFYKIP	ILVINKVLPM
130	140	150	160	170	180
VSITLLALVY	LPGVIAAIVQ	LHNGTKYKKF	PHWLDKWMLT	RKQFGLLSFF	FAVLHAIYSL
190	200	210	220	230	240
SYPMRRSYRY	KLLNWAYQQV	QQNKEDAWIE	HDVWRMEIYV	SLGIVGLAIL	ALLAVTSIPS
250	260	270	280	290	300
VSDSLTWREF	HYIQSKLGIV	SLLLGTIHAL	IFAWNKWIDI	KQFVWYTPPT	FMIAVFLPIV
310	320	330
VLIFKSILFL	PCLRKKILKI	RHGWEDVTKI	NKTEICSQL