AiPD: Autoinhibited Protein Database

Q9Y394

Gene name	DHRS7
Protein name	Dehydrogenase/reductase SDR family member 7
Names	Retinal short-chain dehydrogenase/reductase 4, retSDR4, Short chain dehydrogenase/reductase family 34C member 1, Protein SDR34C1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51635
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

286-339 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

286-339 (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 Q9Y394

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y394-F1	Predicted				AlphaFoldDB

318 variants for Q9Y394

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA389908983 rs1566537939	2	N>K		No	ClinGen Ensembl
CA7211584 rs748874258	3	W>C		No	ClinGen ExAC TOPMed gnomAD
CA7211585 rs770661838	3	W>G		No	ClinGen ExAC gnomAD
rs112243953 CA7211583	5	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1361124493 CA389908959	6	L>R		No	ClinGen TOPMed
rs1446002351 CA389908947	8	W>*		No	ClinGen TOPMed
CA7211580 rs752262937	10	L>P		No	ClinGen ExAC gnomAD
rs200185187 CA261692464	10	L>V		No	ClinGen TOPMed gnomAD
CA389908932 rs1182759101	11	V>A		No	ClinGen gnomAD
rs1182759101 CA389908933	11	V>G		No	ClinGen gnomAD
CA7211579 rs781039007	13	C>R		No	ClinGen ExAC gnomAD
CA389908917 rs1483392567	14	A>T		No	ClinGen gnomAD
CA389908908 rs1377722721	15	L>R		No	ClinGen TOPMed
rs1241123131 CA389908905	16	L>F		No	ClinGen gnomAD
rs751302058 CA7211576	17	L>P		No	ClinGen ExAC TOPMed gnomAD
CA7211575 rs766140139	20	V>A		No	ClinGen ExAC gnomAD
rs980161150 CA261692443	20	V>M		No	ClinGen gnomAD
CA389908874 rs1279186422	21	Q>H		No	ClinGen gnomAD
rs750604375 CA7211573	26	L>P		No	ClinGen ExAC TOPMed gnomAD
CA389908836 rs1280393413	28	A>P		No	ClinGen TOPMed
rs1269825656 CA389908830	29	D>N		No	ClinGen TOPMed gnomAD
CA261692416 rs763620183	30	G>D		No	ClinGen Ensembl
rs1351632957 CA389908823	30	G>S		No	ClinGen gnomAD
rs776858299 CA7211570	32	L>R		No	ClinGen ExAC gnomAD
CA389908809 rs1321538938	32	L>V		No	ClinGen gnomAD
CA389908801 rs1400912988	33	T>R		No	ClinGen gnomAD
CA389908788 rs1476713910	36	W>G		No	ClinGen gnomAD
rs769246642 CA7211569	37	A>T		No	ClinGen ExAC gnomAD
rs1244437209 CA389908762	39	W>*		No	ClinGen gnomAD
rs1595203763 CA389908768	39	W>G		No	ClinGen Ensembl
CA7211567 rs772297795	40	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA7211566 rs772297795	40	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs746313916 CA7211565	41	G>A		No	ClinGen ExAC gnomAD
CA261692397 rs999910839	41	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	42	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7211563 rs138656341	43	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs747568253 CA7211562	44	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	49	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754085391 CA7211533	50	D>N		No	ClinGen ExAC gnomAD
CA7211532 rs200435423	51	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389908676 rs1255681967	51	M>V		No	ClinGen gnomAD
rs1443598931 CA389908665	52	V>A		No	ClinGen TOPMed gnomAD
rs973897187 CA261685805	53	V>G		No	ClinGen Ensembl
CA7211529 rs756252412	53	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7211528 rs202234162	54	W>*		No	ClinGen ExAC gnomAD
CA389908652 rs1238275154	54	W>*		No	ClinGen gnomAD
CA389908657 rs1268227201	54	W>G		No	ClinGen TOPMed
CA389908646 rs1595196596	55	V>G		No	ClinGen Ensembl
TCGA novel	56	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7211527 rs767868590	58	A>T		No	ClinGen ExAC gnomAD
rs372769988 CA7211526	59	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs538127220 CA261685774 CA389908615	61	G>R		No	ClinGen 1000Genomes TOPMed
CA7211524 rs200956188	62	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1199938684 CA389908588	65	E>*		No	ClinGen gnomAD
rs763373267 CA7211523	65	E>G		No	ClinGen ExAC gnomAD
CA7211520 rs746451308	67	A>P		No	ClinGen ExAC TOPMed gnomAD
rs775097513 CA7211519	67	A>V		No	ClinGen ExAC TOPMed gnomAD
CA389908562 rs771858223	69	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA7211517 rs771858223	69	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7211516 rs745797083	72	K>I		No	ClinGen ExAC gnomAD
CA261685718 rs953354403	74	G>A		No	ClinGen TOPMed gnomAD
CA389908531 rs953354403	74	G>E		No	ClinGen TOPMed gnomAD
rs1222197158 CA389908515	77	L>F		No	ClinGen gnomAD
rs770847732 CA7211514	77	L>P		No	ClinGen ExAC TOPMed gnomAD
CA261685708 COSM1370341 rs763203291	80	S>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA7211511 rs756432378	81	A>S		No	ClinGen ExAC gnomAD
rs752771197 CA7211510	81	A>V		No	ClinGen ExAC gnomAD
rs781307765 CA7211509	82	R>K		No	ClinGen ExAC TOPMed gnomAD
CA389908484 rs1381171459	83	R>I		No	ClinGen gnomAD
rs1566533737 CA389908476	84	V>E		No	ClinGen Ensembl
CA7211507 rs752101460	85	H>Q		No	ClinGen ExAC gnomAD
rs766851947 CA7211506	86	E>*		No	ClinGen ExAC gnomAD
TCGA novel	86	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1392894153 CA389908454	88	E>K		No	ClinGen gnomAD
TCGA novel	89	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1163029133 CA389908444	89	R>T		No	ClinGen TOPMed
rs1164711259 CA389908423	92	R>K		No	ClinGen gnomAD
TCGA novel	94	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7211504 rs763245073	94	C>R		No	ClinGen ExAC gnomAD
TCGA novel	96	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1252311043 CA389908384	96	E>G		No	ClinGen gnomAD
rs906334911 CA261684004	97	N>S		No	ClinGen TOPMed
rs1253263079 CA389908373	98	G>S		No	ClinGen TOPMed
CA389908340 rs1248089285	102	E>A		No	ClinGen gnomAD
rs1019994492 CA261683992	104	D>H		No	ClinGen TOPMed
TCGA novel	104	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1019994492 CA261683991	104	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs988482312 CA261683985	105	I>M		No	ClinGen Ensembl
CA389908314 rs1345332982	106	L>F		No	ClinGen gnomAD
rs752393729 CA7211481	107	V>I		No	ClinGen ExAC gnomAD
CA7211480 rs767136180	108	L>S		No	ClinGen ExAC gnomAD
CA7211478 rs773742017	109	P>L		No	ClinGen ExAC gnomAD
rs375832095 CA7211479	109	P>S		No	ClinGen ESP ExAC gnomAD
CA261683925 rs3180993	110	L>F		No	ClinGen Ensembl
rs747850167 CA7211476	111	D>N		No	ClinGen ExAC TOPMed gnomAD
rs747850167 CA7211477	111	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1191737623 CA389908272	114	D>N		No	ClinGen TOPMed gnomAD
rs776852864 CA7211472	118	H>Q		No	ClinGen ExAC gnomAD
rs146929831 CA7211473	118	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA7211471 rs61742394	120	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7211469 rs780130655	122	T>N		No	ClinGen ExAC gnomAD
CA389908213 rs1361960349	123	K>T		No	ClinGen gnomAD
CA7211467 rs746345232	124	A>G		No	ClinGen ExAC gnomAD
CA7211465 rs757630810	127	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA389908181 rs1595195093	128	E>G		No	ClinGen Ensembl
rs754170475 CA7211464	128	E>Q		No	ClinGen ExAC gnomAD
rs1595195086 CA389908175	129	F>V		No	ClinGen Ensembl
rs777974050 CA389908143	132	I>F		No	ClinGen ExAC TOPMed gnomAD
rs756537246 CA7211442	132	I>T		No	ClinGen ExAC gnomAD
CA7211443 rs777974050	132	I>V		No	ClinGen ExAC TOPMed gnomAD
rs766188972 CA7211440	133	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7211439 rs147318951	138	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA261683207 rs770865940	139	G>S		No	ClinGen Ensembl
rs375896675 CA261683206	140	G>V		No	ClinGen ESP TOPMed gnomAD
CA7211438 rs148567335	141	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389908089 rs1474159079	141	M>L		No	ClinGen gnomAD
rs765181578 CA389908080	142	S>A		No	ClinGen ExAC gnomAD
rs765181578 CA7211437	142	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA389908072 rs1275591627	143	Q>R		No	ClinGen gnomAD
CA7211435 rs776680689	144	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs539643284 CA261683136	144	R>H		No	ClinGen 1000Genomes
CA389908049 rs1273983527	147	C>F		No	ClinGen TOPMed gnomAD
rs371472289 CA261683113	147	C>G		No	ClinGen ESP
TCGA novel	147	C>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760586938 CA7211433	148	M>T		No	ClinGen ExAC TOPMed gnomAD
CA261683112 rs1052931725	148	M>V		No	ClinGen TOPMed
rs1359983293 CA389908036	149	D>A		No	ClinGen gnomAD
TCGA novel	149	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs3180983 CA261683079	152	L>F		No	ClinGen Ensembl
CA389908003 rs1437246199	154	V>I		No	ClinGen gnomAD
rs772297539 CA7211431	155	Y>S		No	ClinGen ExAC gnomAD
rs759548011 CA7211430	157	K>Q		No	ClinGen ExAC gnomAD
CA7211429 rs367690213	158	L>P		No	ClinGen ESP ExAC gnomAD
rs771423612 CA7211428	159	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	159	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61742277 CA7211427	160	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1483945536 CA389907962	160	E>G		No	ClinGen TOPMed
CA389907965 rs1407903582	160	E>Q		No	ClinGen gnomAD
rs1254661257 CA389907947	162	N>K		No	ClinGen TOPMed
CA7211426 rs778406596	162	N>S		No	ClinGen ExAC gnomAD
CA389907946 rs190571329	163	Y>D		No	ClinGen 1000Genomes ExAC
rs190571329 CA7211425	163	Y>H		No	ClinGen 1000Genomes ExAC
CA7211424 rs748533483	166	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7211423 rs779784047	166	T>M		No	ClinGen ExAC TOPMed gnomAD
CA389907894 rs1468346332	167	V>L		No	ClinGen gnomAD
rs1207038412 CA389907838	172	C>R		No	ClinGen gnomAD
rs1272558457 CA389907826	172	C>W		No	ClinGen TOPMed gnomAD
rs749902791 CA7211421	173	V>I		No	ClinGen ExAC gnomAD
rs756832644 CA389907791	176	H>N		No	ClinGen ExAC gnomAD
rs756832644 COSM3815017 CA7211419	176	H>Y	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA389907767 rs1299703151	177	M>I		No	ClinGen gnomAD
rs760406577 CA7211417	177	M>R		No	ClinGen ExAC TOPMed gnomAD
CA7211416 rs760406577	177	M>T		No	ClinGen ExAC TOPMed gnomAD
rs753717156 CA7211418	177	M>V		No	ClinGen ExAC gnomAD
CA261682982 rs559221999	178	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7211412 rs368159355	179	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7211413 rs142725427	179	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM956715 CA7211414 rs146061320	179	E>K	endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA389907706 rs1392682638	181	K>N		No	ClinGen gnomAD
CA7211410 rs138251248	183	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138251248 CA7211411	183	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1309639586 CA389907687	183	G>R		No	ClinGen TOPMed
CA7211408 rs748482262	185	I>M		No	ClinGen ExAC gnomAD
rs773531485 CA7211409	185	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	190	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479856467 CA389907581	191	I>N		No	ClinGen gnomAD
rs1479856467 CA389907577	191	I>S		No	ClinGen gnomAD
rs1347805617 CA389907567	192	L>R		No	ClinGen TOPMed
rs769191663 CA7211405	193	G>A		No	ClinGen ExAC TOPMed gnomAD
CA7211406 rs375076028	193	G>C		No	ClinGen ESP ExAC TOPMed
CA389907560 rs769191663	193	G>D		No	ClinGen ExAC TOPMed gnomAD
CA261682872 rs949059232	194	I>F		No	ClinGen TOPMed
rs745485620 CA389907542	195	I>L		No	ClinGen ExAC TOPMed gnomAD
rs745485620 CA7211404	195	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7211403 rs150536990	196	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1377085410 CA389907499	198	P>L		No	ClinGen TOPMed
CA389907454 rs1221870496	202	G>A		No	ClinGen gnomAD
rs1309037491 CA389907460	202	G>R		No	ClinGen gnomAD
CA389907452 rs1221870496	202	G>V		No	ClinGen gnomAD
rs753403676 CA7211401	203	Y>H		No	ClinGen ExAC gnomAD
CA261682826 rs201250744	204	C>R		No	ClinGen Ensembl
CA389907390 rs1566531796	207	K>Q		No	ClinGen Ensembl
TCGA novel	208	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1170409893 CA389907354	209	A>V		No	ClinGen TOPMed
rs374542928 CA7211396	210	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs759388616 CA7211395	210	L>P		No	ClinGen ExAC gnomAD
rs374542928 CA7211397	210	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7211393 rs766634765	211	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7211394 rs751714239	211	R>W		No	ClinGen ExAC TOPMed gnomAD
rs777265427 CA7211348	212	G>S		No	ClinGen ExAC
rs1327951158 CA389907063	214	F>L		No	ClinGen TOPMed
CA389907058 rs1462732269	215	N>T		No	ClinGen gnomAD
rs1277209951 CA389907060	215	N>Y		No	ClinGen TOPMed
rs760883356 CA389907052	216	G>C		No	ClinGen ExAC gnomAD
rs760883356 CA7211344	216	G>R		No	ClinGen ExAC gnomAD
CA389907046 rs1427986469	217	L>F		No	ClinGen TOPMed gnomAD
CA7211343 rs369616974	218	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs34583017 CA389907041	218	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34583017 CA7211342 VAR_052319	218	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7211341 rs748952619	219	T>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	220	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446641883 CA389907018	222	A>S		No	ClinGen TOPMed gnomAD
CA389907019 rs1446641883	222	A>T		No	ClinGen TOPMed gnomAD
rs772785162 CA7211340	223	T>R		No	ClinGen ExAC
rs769277588 CA7211339	224	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA261679893 rs923670519	226	G>D		No	ClinGen TOPMed gnomAD
CA389906992 rs923670519	226	G>V		No	ClinGen TOPMed gnomAD
rs377160812 CA7211337	227	I>V		No	ClinGen ESP ExAC TOPMed
CA261679886 rs141458609	229	V>D		No	ClinGen ESP
CA389906968 rs1202379871	230	S>F		No	ClinGen TOPMed gnomAD
CA389906958 rs1417633443	232	I>V		No	ClinGen TOPMed
CA389906949 rs754937578	233	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1226074108 CA389906951	233	C>R		No	ClinGen gnomAD
rs754937578 CA7211336	233	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1304848763 CA389906940	234	P>L		No	ClinGen gnomAD
TCGA novel	237	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1237083944 CA389906921	238	Q>*		No	ClinGen TOPMed gnomAD
CA389906914 rs1416237139	238	Q>H		No	ClinGen TOPMed
CA389906919 rs1237083944	238	Q>K		No	ClinGen TOPMed gnomAD
rs1323358892 CA389906911	239	S>*		No	ClinGen gnomAD
rs746730177 CA7211335	239	S>T		No	ClinGen ExAC gnomAD
CA389906899 rs1392328899	241	I>V		No	ClinGen gnomAD
CA7211333 rs758167532	242	V>A		No	ClinGen ExAC gnomAD
CA389906883 rs1339344175	243	E>A		No	ClinGen TOPMed
rs1310005846 CA389906887	243	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs765613116 CA7211331	245	S>F		No	ClinGen ExAC gnomAD
CA7211332 rs372736189	245	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7211330 rs200906503	246	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs753972625 CA7211329	247	A>D		No	ClinGen ExAC TOPMed gnomAD
CA389906863 rs1262552194	247	A>P		No	ClinGen gnomAD
rs148256416 CA7211328	249	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs148256416 CA389906851	249	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs978165484 CA261679868	249	E>K		No	ClinGen Ensembl
CA389906845 rs1219833683	250	V>I		No	ClinGen gnomAD
CA7211327 rs761269580	251	T>K		No	ClinGen ExAC gnomAD
CA7211312 rs757586687	254	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1242073739 CA389906757	261	S>F		No	ClinGen TOPMed
rs756192130 CA7211309	264	M>K		No	ClinGen ExAC TOPMed gnomAD
CA389906734 rs756192130	264	M>T		No	ClinGen ExAC TOPMed gnomAD
rs946394402 CA261679425	265	T>K		No	ClinGen TOPMed
CA7211308 rs753248149	266	T>A		No	ClinGen ExAC gnomAD
rs1485028288 CA389906721	266	T>I		No	ClinGen TOPMed gnomAD
CA389906722 rs1485028288	266	T>S		No	ClinGen TOPMed gnomAD
rs539765495 CA7211307	268	R>C		No	ClinGen ExAC TOPMed gnomAD
CA389906710 rs1440824126	268	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs751946309 CA7211305	269	C>R		No	ClinGen ExAC gnomAD
rs764832117 CA389906705	269	C>S		No	ClinGen ExAC gnomAD
CA7211304 rs764832117	269	C>Y		No	ClinGen ExAC gnomAD
rs761425805 CA7211303	270	V>M		No	ClinGen ExAC
rs768199302 CA7211301	271	R>Q	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776316620 CA7211302	271	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1413018276 CA389906685	273	M>T		No	ClinGen gnomAD
TCGA novel	273	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1339904347 CA389906651	277	M>I		No	ClinGen gnomAD
rs1318913718 CA389906648	278	A>T		No	ClinGen gnomAD
rs1402428133 CA389906636	279	N>K		No	ClinGen gnomAD
rs111725318 CA7211299 CA389906613	282	K>N		No	ClinGen ExAC TOPMed gnomAD
CA389906607 rs1461756815	283	E>D		No	ClinGen gnomAD
rs771915686 CA7211298	283	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7211296 rs778880826	284	V>D		No	ClinGen ExAC gnomAD
rs745607417 CA7211297	284	V>I		No	ClinGen ExAC gnomAD
rs777910825 CA7211294	285	W>*		No	ClinGen ExAC TOPMed gnomAD
rs777910825 CA7211293	285	W>C		No	ClinGen ExAC TOPMed gnomAD
rs770886627 CA7211295	285	W>R		No	ClinGen ExAC gnomAD
rs1302284460 CA389906595	286	I>L		No	ClinGen TOPMed
CA389906571 rs1194655205	289	Q>P		No	ClinGen gnomAD
rs752736783 CA7211291	290	P>L		No	ClinGen ExAC gnomAD
CA389906565 rs1368825339	290	P>T		No	ClinGen gnomAD
rs781690782 CA7211290	292	L>F		No	ClinGen ExAC
rs1306885580 CA389906536	294	V>A		No	ClinGen TOPMed
rs932394659 CA261679257	297	L>S		No	ClinGen Ensembl
CA261679249 rs940548010	298	W>C		No	ClinGen TOPMed
rs909067850 CA261679242	299	Q>*		No	ClinGen TOPMed gnomAD
CA389906503 rs1595191181	299	Q>L		No	ClinGen Ensembl
CA7211289 rs755472688	301	M>I		No	ClinGen ExAC gnomAD
rs1310026919 CA389906479	302	P>L		No	ClinGen TOPMed
CA261679217 rs922812738	302	P>S		No	ClinGen gnomAD
rs1231630378 CA389906477	303	T>A		No	ClinGen gnomAD
CA261679204 rs976889155	304	W>*		No	ClinGen Ensembl
rs1208878193 CA389906463	305	A>P		No	ClinGen TOPMed
rs1048906207 CA261679196	305	A>V		No	ClinGen TOPMed
CA389906456 rs1355879051	306	W>*		No	ClinGen gnomAD
CA389906451 rs1242631766	306	W>*		No	ClinGen TOPMed gnomAD
CA7211287 rs766709468	307	W>C		No	ClinGen ExAC gnomAD
CA7211288 rs752102316	307	W>R		No	ClinGen ExAC gnomAD
rs758822114 CA7211286	308	I>V		No	ClinGen ExAC TOPMed gnomAD
CA389906434 rs1319741724	309	T>N		No	ClinGen gnomAD
rs1396363490 CA389906417	311	K>T		No	ClinGen gnomAD
CA389906408 rs1566529809 COSM1370337	312	M>T	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA389906401 rs1404451987	313	G>E		No	ClinGen gnomAD
rs763659152 CA7211284	313	G>R		No	ClinGen ExAC gnomAD
CA261679123 rs1016271719	314	K>R		No	ClinGen Ensembl
rs774883587 CA389906372	316	R>S		No	ClinGen ExAC gnomAD
CA7211283 rs760173791	316	R>T		No	ClinGen ExAC gnomAD
rs371048157 CA7211281	317	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	318	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774475443 CA7211279	318	E>D		No	ClinGen ExAC gnomAD
CA7211280 rs759513450	318	E>V		No	ClinGen ExAC gnomAD
CA389906350 rs1439473810	319	N>K		No	ClinGen TOPMed
TCGA novel	319	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389906336 rs1451320545	321	K>T		No	ClinGen gnomAD
CA261679090 rs757644383	322	S>N		No	ClinGen Ensembl
CA7211276 rs749157801	322	S>R		No	ClinGen ExAC gnomAD
CA7211275 rs143781219	323	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767005889 CA261679055	324	V>G		No	ClinGen Ensembl
TCGA novel	325	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7211234 rs775577817	326	A>E		No	ClinGen ExAC gnomAD
rs775577817 CA7211233	326	A>G		No	ClinGen ExAC gnomAD
CA7211232 rs775577817	326	A>V		No	ClinGen ExAC gnomAD
TCGA novel	328	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389905131 rs1463771485	328	S>F		No	ClinGen TOPMed
rs772178678 CA7211231	330	Y>S		No	ClinGen ExAC gnomAD
CA7211230 rs746337395	333	I>S		No	ClinGen ExAC TOPMed
rs529650700 CA7211227	335	K>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1386218053 CA389904962	337	K>N		No	ClinGen TOPMed
rs1017440304 CA261675781	338	H>R		No	ClinGen Ensembl
CA261675787 rs968607878	338	H>Y		No	ClinGen gnomAD
CA7211223 rs754712730	340	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD

No associated diseases with Q9Y394

1 regional properties for Q9Y394

Type	Name	Position	InterPro Accession
conserved_site	Short-chain dehydrogenase/reductase, conserved site	190 - 218	IPR020904

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane	Bound to the endoplasmic reticulum membrane, possibly through a N-terminus anchor The main bulk of the polypeptide chain was first reported to be facing toward the lumen of the endoplasmic reticulum (PubMed:24246760) However, it was later shown to be facing the cytosol (PubMed:28457967)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

3 GO annotations of molecular function

Name	Definition
carbonyl reductase (NADPH) activity	Catalysis of the reaction: R-CHOH-R' + NADP+ = R-CO-R' + NADPH + H+.
NADP-retinol dehydrogenase activity	Catalysis of the reaction: all-trans-retinol + NADP+ = all-trans-retinal + NADPH + H+.
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7Z5J1	HSD11B1L	Hydroxysteroid 11-beta-dehydrogenase 1-like protein	Homo sapiens (Human)	PR

10	20	30	40	50	60
MNWELLLWLL	VLCALLLLLV	QLLRFLRADG	DLTLLWAEWQ	GRRPEWELTD	MVVWVTGASS
70	80	90	100	110	120
GIGEELAYQL	SKLGVSLVLS	ARRVHELERV	KRRCLENGNL	KEKDILVLPL	DLTDTGSHEA
130	140	150	160	170	180
ATKAVLQEFG	RIDILVNNGG	MSQRSLCMDT	SLDVYRKLIE	LNYLGTVSLT	KCVLPHMIER
190	200	210	220	230	240
KQGKIVTVNS	ILGIISVPLS	IGYCASKHAL	RGFFNGLRTE	LATYPGIIVS	NICPGPVQSN
250	260	270	280	290	300
IVENSLAGEV	TKTIGNNGDQ	SHKMTTSRCV	RLMLISMAND	LKEVWISEQP	FLLVTYLWQY
310	320	330
MPTWAWWITN	KMGKKRIENF	KSGVDADSSY	FKIFKTKHD