AiPD: Autoinhibited Protein Database

O75452

Gene name	RDH16
Protein name	Retinol dehydrogenase 16
Names	Human epidermal retinol dehydrogenase, hRDH-E, Microsomal NAD(+)-dependent retinol dehydrogenase 4, RoDH-4, Short chain dehydrogenase/reductase family 9C member 8, Sterol/retinol dehydrogenase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8608
EC number	1.1.1.53: With NAD(+) or NADP(+) as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

38-109 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

38-109 (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 O75452

Entry ID	Method	Resolution	Chain	Position	Source
AF-O75452-F1	Predicted				AlphaFoldDB

308 variants for O75452

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA237724645 rs967984690	2	W>C		No	ClinGen TOPMed
rs767885626 COSM941829 CA6638581	2	W>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1378605938 CA385399203	5	L>Q		No	ClinGen TOPMed
rs201598560 CA6638580	6	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592433666 CA385399168	7	V>G		No	ClinGen Ensembl
CA385399164 rs1312890793	8	F>L		No	ClinGen gnomAD
rs1322445503 CA385399137	9	V>A		No	ClinGen gnomAD
rs773191923 CA6638577	9	V>L		No	ClinGen ExAC gnomAD
rs773191923 CA6638576	9	V>M		No	ClinGen ExAC gnomAD
TCGA novel	10	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446020240 CA385399095	12	Y>C		No	ClinGen gnomAD
rs549296240 CA237724622	13	Y>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs200225418 CA385399069	14	L>I		No	ClinGen ExAC TOPMed gnomAD
CA385399060 rs1447278338	14	L>P		No	ClinGen gnomAD
rs200225418 CA6638574	14	L>V		No	ClinGen ExAC TOPMed gnomAD
CA385399052 rs1389541387	15	L>M		No	ClinGen gnomAD
rs528031298 CA6638573	16	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA385399041 rs1161140654	16	H>Y		No	ClinGen TOPMed gnomAD
CA385399012 rs1386158787	17	W>C		No	ClinGen TOPMed
rs1301676636 CA385398993	18	Y>*		No	ClinGen TOPMed
CA6638571 rs199814447	19	R>Q	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs373912778 CA6638572	19	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	20	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369508470 CA237724604	20	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA385398975 rs1256468873	20	E>Q		No	ClinGen TOPMed
CA6638565 rs753136854	23	V>G		No	ClinGen ExAC gnomAD
rs377361228 CA6638566	23	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6638567 rs377361228	23	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6638564 rs767973636	24	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1488840258 CA385398902	25	S>C		No	ClinGen gnomAD
rs372821581 CA6638563	25	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs751805506 CA6638562	25	S>R		No	ClinGen ExAC gnomAD
CA6638561 rs766431340	26	H>Q		No	ClinGen ExAC gnomAD
rs1191055150 CA385398861	28	R>G		No	ClinGen TOPMed
TCGA novel	28	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773231549 CA6638559	28	R>K		No	ClinGen ExAC gnomAD
rs376548420 CA6638558 CA385398819	30	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1422382481 CA385398822	30	K>R		No	ClinGen TOPMed
rs761712647 CA6638557	31	Y>C		No	ClinGen ExAC gnomAD
CA6638556 rs776448532	35	T>A		No	ClinGen ExAC gnomAD
CA6638555 rs201949802	35	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA385398740 rs1372049147	37	C>R		No	ClinGen gnomAD
rs981109734 CA237724488	39	S>C		No	ClinGen Ensembl
rs771558044 CA6638552	40	G>V		No	ClinGen ExAC gnomAD
COSM4152899 CA6638550 rs778519223	42	G>R	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	43	K>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1433945634 CA385398596	45	L>P		No	ClinGen gnomAD
CA6638546 rs755360375	47	R>K		No	ClinGen ExAC TOPMed gnomAD
rs796932430 CA385398560	48	Q>E		No	ClinGen gnomAD
rs796932430 CA237724470	48	Q>K		No	ClinGen gnomAD
rs574033121 CA6638545	49	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385398503 rs1219504518	51	A>E		No	ClinGen TOPMed
rs766651290 CA6638544	52	R>*		No	ClinGen ExAC gnomAD
rs1272797536 CA385398491	52	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA385398444 rs761804355	55	R>L		No	ClinGen ExAC gnomAD
CA6638540 rs761804355	55	R>Q		No	ClinGen ExAC gnomAD
rs200490309 CA6638541	55	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592433484 CA385398427	56	V>G		No	ClinGen Ensembl
CA6638539 rs201114307	56	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6638535 rs760523285	60	C>R		No	ClinGen ExAC gnomAD
rs775108212 CA6638534	61	L>Q		No	ClinGen ExAC gnomAD
rs371699976 CA6638533	62	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6638531 rs199635027	65	G>E		No	ClinGen ExAC TOPMed gnomAD
CA385398283 rs1488388012	65	G>R		No	ClinGen TOPMed
CA6638529 rs748725495	67	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781768839 CA6638528	68	Q>*		No	ClinGen ExAC gnomAD
CA6638527 rs768982376	68	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1276440879 CA385398214	68	Q>R		No	ClinGen gnomAD
rs747418350 CA6638526	69	L>M		No	ClinGen ExAC gnomAD
rs1370053053 CA385398190	69	L>P		No	ClinGen TOPMed
rs1297301330 CA385398144	71	G>D		No	ClinGen TOPMed
rs1297301330 CA385398148	71	G>V		No	ClinGen TOPMed
CA237724354 rs61742012	73	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61742012 RCV000957085 CA6638524 COSM358714	73	T>S	lung [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1278201809 CA385398098	74	S>P		No	ClinGen TOPMed gnomAD
rs1278201809 CA385398096	74	S>T		No	ClinGen TOPMed gnomAD
rs201207510 CA6638523	75	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6638521 rs141054345	76	R>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753847694 CA6638520	76	R>S		No	ClinGen ExAC gnomAD
CA6638519 rs764123846	78	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1396970933 CA385398023	78	E>K		No	ClinGen gnomAD
rs760481504 CA6638518	79	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA385397978 rs1285722905	80	V>L		No	ClinGen TOPMed
CA6638517 rs752588011	81	T>I		No	ClinGen ExAC TOPMed gnomAD
CA6638516 rs767187452	83	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1466786593 CA385397921	83	D>V		No	ClinGen gnomAD
CA385397930 rs767187452	83	D>Y		No	ClinGen ExAC gnomAD
CA385397876 rs1445254634	86	K>N		No	ClinGen Ensembl
rs996707311 CA237724306	87	T>A		No	ClinGen Ensembl
CA385397864 rs1162684954	87	T>R		No	ClinGen TOPMed gnomAD
rs1482727880 CA385397837	88	E>D		No	ClinGen TOPMed
rs1471877461 CA385397830	89	S>G		No	ClinGen gnomAD
rs759331740 CA6638515	89	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	89	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199511187 CA6638513	90	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385397806 rs199511187	90	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200026161 CA6638512	92	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA237724231 rs202131585	94	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA385397719 rs202131585	94	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6638510 rs202131585	94	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA385397681 rs1357583244	95	Q>H		No	ClinGen TOPMed
CA6638509 rs747439335	95	Q>R		No	ClinGen ExAC gnomAD
CA385397662 rs1227216028	96	W>*		No	ClinGen gnomAD
rs772411066 CA6638508	97	V>L		No	ClinGen ExAC gnomAD
rs772411066 CA6638507	97	V>M		No	ClinGen ExAC gnomAD
CA6638506 rs746171553	98	K>E		No	ClinGen ExAC gnomAD
rs779110641 CA6638504	99	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1592433320 CA385396929	100	C>G		No	ClinGen Ensembl
rs200954284 CA237724153	100	C>Y		No	ClinGen TOPMed gnomAD
CA6638501 rs200134176	101	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6638503 rs201943662	101	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6638502 rs201943662	101	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1163921784 CA385396871	103	D>G		No	ClinGen gnomAD
CA385396879 rs756118236	103	D>H		No	ClinGen ExAC TOPMed gnomAD
CA6638500 rs756118236	103	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6638480 rs377240828	106	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs751444569 CA6638479	108	G>S		No	ClinGen ExAC
CA385396617 rs766241981	109	L>M		No	ClinGen ExAC TOPMed gnomAD
rs922947877 CA237722590	110	V>M		No	ClinGen TOPMed gnomAD
rs1318064655 CA385396559	112	N>Y		No	ClinGen TOPMed gnomAD
CA385396536 rs1278280524	113	A>P		No	ClinGen gnomAD
rs373743478 CA6638476	114	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6638477 rs373743478	114	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs974365532 CA237722579	115	I>F		No	ClinGen gnomAD
rs1399472757 CA385396457	116	S>T		No	ClinGen gnomAD
rs761232991 CA6638475	119	T>K		No	ClinGen ExAC TOPMed gnomAD
rs761232991 CA6638474	119	T>M		No	ClinGen ExAC TOPMed gnomAD
rs747640607 CA237722527	120	A>T		No	ClinGen Ensembl
rs1565618748 CA385395903	121	P>T		No	ClinGen Ensembl
CA6638472 rs186803713	122	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1381239449 CA385395851	124	L>F		No	ClinGen TOPMed
CA385395862 rs1175025362	124	L>M		No	ClinGen TOPMed gnomAD
rs199665669 CA237722512	125	L>V		No	ClinGen 1000Genomes
CA385395775 rs1323113296	130	F>V		No	ClinGen TOPMed
CA385395760 rs141418155	131	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6638467 rs141418155	131	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1592432411 CA385395733	133	I>T		No	ClinGen Ensembl
rs773308590 CA6638466	135	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	136	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6638464 rs374555767 COSM1263964	136	V>M	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs200375298 CA6638460	140	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs746932996 CA6638461	140	G>W		No	ClinGen ExAC TOPMed gnomAD
rs750176985 CA6638458	141	V>E		No	ClinGen ExAC TOPMed gnomAD
rs750176985 CA385395594	141	V>G		No	ClinGen ExAC TOPMed gnomAD
rs758134985 CA385395598	141	V>L		No	ClinGen ExAC TOPMed gnomAD
rs758134985 CA6638459	141	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1382866005 CA385395569	142	I>T		No	ClinGen TOPMed gnomAD
CA6638457 rs764820930	144	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1445541709 CA385395491	145	T>I		No	ClinGen gnomAD
CA385395391 rs1210806383	150	P>S		No	ClinGen TOPMed gnomAD
CA385395399 rs1210806383	150	P>T		No	ClinGen TOPMed gnomAD
CA6638453 rs372580365	153	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1317158999 CA385395307	153	R>K		No	ClinGen TOPMed
rs1242890638 CA385395282	154	R>K		No	ClinGen gnomAD
rs760091836 CA6638451	155	A>G		No	ClinGen ExAC gnomAD
rs374572590 CA237722426	155	A>S		No	ClinGen Ensembl
CA385395241 rs760091836	155	A>V		No	ClinGen ExAC gnomAD
CA385395211 rs1229648876	157	G>S		No	ClinGen TOPMed
CA385395196 rs1260744006	158	R>C		No	ClinGen TOPMed
rs200197274 CA6638449	158	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200197274 CA6638450	158	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385395187 rs1244736111	159	V>M		No	ClinGen TOPMed
rs763238197 CA6638448	160	V>A		No	ClinGen ExAC
CA385395155 rs773573030	161	N>K		No	ClinGen ExAC TOPMed gnomAD
CA385395149 rs769936511	162	V>F		No	ClinGen ExAC TOPMed gnomAD
CA6638446 rs769936511	162	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA385395128 rs534703097	163	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385395126 rs534703097	163	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534703097 CA6638445	163	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1592432320 CA385395084	165	V>A		No	ClinGen Ensembl
CA385395051 rs1456570631	167	G>R		No	ClinGen gnomAD
rs201496901 CA6638443	168	R>Q	Variant assessed as Somatic; 0.0001855 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs539187159 CA6638444	168	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385395017 rs200178029	169	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6638441 rs200178029	169	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs201546365 CA6638440	170	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375015081 CA237722359	170	S>P		No	ClinGen ESP TOPMed gnomAD
CA6638439 rs530887405	171	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA6638438 rs778739319	172	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1592432282 CA385394961	172	F>V		No	ClinGen Ensembl
rs756909031 CA237722313	173	G>A		No	ClinGen ExAC TOPMed gnomAD
rs756909031 CA6638437	173	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777329739 CA6638435	175	G>A		No	ClinGen ExAC gnomAD
rs1446928398 CA385394873	177	C>Y		No	ClinGen gnomAD
rs1160254957 CA385394827	179	S>F		No	ClinGen gnomAD
CA6638433 rs752142823	180	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1420189506 CA385394817	180	K>R		No	ClinGen gnomAD
rs1178383236 CA385394797	181	Y>*		No	ClinGen TOPMed gnomAD
CA385394810 rs1411321770	181	Y>H		No	ClinGen TOPMed
CA385394789 rs1456744010	182	G>D		No	ClinGen gnomAD
TCGA novel	183	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs572909088 CA6638431	183	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1223909817 CA385394685	190	L>F		No	ClinGen gnomAD
rs1262481724 CA385394493	193	E>D		No	ClinGen gnomAD
rs1480893776 CA385394500	193	E>K		No	ClinGen gnomAD
rs769473817 CA6638399	195	S>A		No	ClinGen ExAC gnomAD
rs747773253 CA6638398	195	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
RCV000961181 rs3215090	198	G>*		No	ClinVar dbSNP
rs1157671378 COSM941828 CA385394457	199	V>A	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs552742274 CA6638397	199	V>M		No	ClinGen ExAC gnomAD
rs1400396480 CA385394440	202	A>P		No	ClinGen gnomAD
CA385394436 rs1388527047	202	A>V		No	ClinGen TOPMed
rs1323820345 CA385394430	203	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs746449900 CA6638394	203	M>V		No	ClinGen ExAC TOPMed gnomAD
CA237720716 rs771263690	204	I>T		No	ClinGen Ensembl
rs1395033976 CA385394408	206	P>L		No	ClinGen TOPMed
CA385394411 rs1276976948	206	P>S		No	ClinGen gnomAD
CA6638393 rs779499842	207	G>R		No	ClinGen ExAC gnomAD
rs1319604750 CA385394404	207	G>V		No	ClinGen gnomAD
rs375368688 CA6638392	208	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	209	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385394381 rs1356891084	210	K>N		No	ClinGen TOPMed
CA6638391 rs200749701	211	T>N		No	ClinGen ExAC TOPMed gnomAD
rs764532243 CA6638390	212	A>P		No	ClinGen ExAC TOPMed gnomAD
rs764532243 CA385394374	212	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs140658779 CA6638389	213	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs752959923 CA6638388	217	E>G		No	ClinGen ExAC
CA6638386 rs139020643	218	R>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA385394319 rs1592431209	220	L>*		No	ClinGen Ensembl
rs1168591077 CA385394312	221	K>E		No	ClinGen gnomAD
CA6638385 rs759673658	223	F>L		No	ClinGen ExAC TOPMed gnomAD
CA6638384 rs774244547	224	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1592431187 CA385394223	225	E>D		No	ClinGen Ensembl
rs1181431526 CA385394230	225	E>G		No	ClinGen TOPMed
rs1193879706 CA385394209	226	I>T		No	ClinGen gnomAD
rs1441788150 CA385394194	227	W>*		No	ClinGen gnomAD
CA6638382 rs762842316 COSM1363194	229	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6638383 rs377404302	229	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA6638381 rs773035320	230	S>F		No	ClinGen ExAC gnomAD
CA6638380 rs576974173	231	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA6638377 rs745788114	233	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1161757136 CA385394068	234	V>A		No	ClinGen TOPMed
rs1244614283 CA385394036	236	E>A		No	ClinGen gnomAD
rs746561570 CA385394020	237	A>S		No	ClinGen ExAC TOPMed gnomAD
rs746561570 CA6638376 COSM145854	237	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA385394017 rs1339049063	237	A>V		No	ClinGen gnomAD
CA385393979 rs1465853330	239	G>D		No	ClinGen TOPMed
TCGA novel	240	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778349385 CA6638372	240	E>G		No	ClinGen ExAC gnomAD
CA6638373 COSM468688 rs368973096	240	E>K	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs377577175 CA6638371	242	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs913344919 CA237720616	243	V>F		No	ClinGen TOPMed gnomAD
CA237720620 rs913344919	243	V>I		No	ClinGen TOPMed gnomAD
CA385393913 rs1472405704	244	A>V		No	ClinGen TOPMed gnomAD
CA385393911 rs1383333672	245	D>H		No	ClinGen gnomAD
rs1274529590 CA385393803	246	Y>C		No	ClinGen gnomAD
CA385393902 rs1351056904	246	Y>D		No	ClinGen TOPMed
CA385393735 rs1394735518	250	A>T		No	ClinGen TOPMed
rs765193007 CA6638345	251	E>K		No	ClinGen ExAC gnomAD
rs761625822 CA6638344	252	Q>K		No	ClinGen ExAC gnomAD
rs140730069 CA6638343	253	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760443742 CA6638341	254	E>G		No	ClinGen ExAC gnomAD
CA6638342 rs763784087	254	E>Q		No	ClinGen ExAC gnomAD
rs200529763 CA6638340	257	C>F		No	ClinGen ExAC TOPMed gnomAD
COSM1363193 rs200529763 CA6638339	257	C>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1368708071 CA385393580	258	T>P		No	ClinGen TOPMed
CA385393530 rs1171691440	260	D>V		No	ClinGen gnomAD
CA385393514 rs1479258589	261	L>P		No	ClinGen gnomAD
rs1270327031 CA385393494	262	S>L		No	ClinGen gnomAD
rs368315464 CA237720069	263	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1231575586 CA385393436	265	T>I		No	ClinGen TOPMed
CA385393410 rs1218354321	267	C>R		No	ClinGen gnomAD
CA385393369 rs1278170411	269	E>K		No	ClinGen gnomAD
rs1235954497 CA385393341	270	H>R		No	ClinGen TOPMed
rs948802385 CA237720046	271	A>T		No	ClinGen gnomAD
CA6638333 rs61741966	271	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1195848414 CA385393255	275	C>F		No	ClinGen TOPMed
rs780280835 CA6638330	278	R>C		No	ClinGen ExAC TOPMed
rs780280835 CA237719995	278	R>G		No	ClinGen ExAC TOPMed
CA6638327 rs931225152 COSM3384522	278	R>H	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	278	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6638328 rs931225152	278	R>P		No	ClinGen TOPMed gnomAD
rs755216247	278	R>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1592430722 CA385393198	279	T>P		No	ClinGen Ensembl
CA6638326 rs758581189	280	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM270019 CA6638325 rs745990933	280	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	281	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA237719974 rs918497141	282	S>L		No	ClinGen TOPMed
CA385393108 rs1592430703	284	G>A		No	ClinGen Ensembl
rs1359678114 CA385393113	284	G>S		No	ClinGen TOPMed gnomAD
rs765232213 CA237719965	285	W>*		No	ClinGen gnomAD
rs765232213 CA385393093	285	W>S		No	ClinGen gnomAD
CA6638323 rs757278655	286	D>V		No	ClinGen ExAC gnomAD
CA6638322 rs753715280	287	A>V		No	ClinGen ExAC gnomAD
CA6638321 rs764026710	288	K>R		No	ClinGen ExAC gnomAD
CA385393026 rs1417989547	289	L>I		No	ClinGen gnomAD
CA385392980 rs1385538539	291	Y>*		No	ClinGen TOPMed
CA385392977 rs1188861119	292	L>I		No	ClinGen gnomAD
CA6638319 rs752491046	293	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1202206280 CA385392929	294	M>I		No	ClinGen gnomAD
rs1462805997 CA385392914	295	S>I		No	ClinGen gnomAD
CA6638318 rs767307105	295	S>R		No	ClinGen ExAC
CA237719951 rs939289243	297	M>L		No	ClinGen TOPMed
CA6638316 rs774051385	300	F>L		No	ClinGen ExAC gnomAD
CA385392827 rs1305893595	300	F>S		No	ClinGen gnomAD
CA385392774 rs1295008778	304	A>T		No	ClinGen TOPMed
CA237719946 rs943669632	304	A>V		No	ClinGen Ensembl
CA237719943 rs912345765	306	M>T		No	ClinGen gnomAD
CA6638315 rs765789629	308	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA385392683 rs765789629	308	W>S		No	ClinGen ExAC TOPMed gnomAD
CA6638314 rs201304555	312	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370686968 CA6638313	312	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6638312 rs368124263	313	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1337066665 CA385392566	315	K>N		No	ClinGen TOPMed gnomAD
rs373978070 CA385392561	316	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs373978070 CA6638309	316	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA385392520 rs1429588526	318	L>C		No	ClinGen gnomAD
rs779115746 CA6638307	318	L>R		No	ClinGen ExAC gnomAD

No associated diseases with O75452

2 regional properties for O75452

Type	Name	Position	InterPro Accession
domain	Bicarbonate transporter-like, transmembrane domain	481 - 989	IPR011531
domain	Band 3 cytoplasmic domain	146 - 434	IPR013769

Functions

		Description
EC Number	1.1.1.53	With NAD(+) or NADP(+) as acceptor
Subcellular Localization	Microsome membrane Endoplasmic reticulum membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a 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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.

7 GO annotations of molecular function

Name	Definition
androstan-3-alpha,17-beta-diol dehydrogenase activity	Catalysis of the reaction: NAD+ + androstan-3-alpha,17-beta-diol = 17-beta-hydroxyandrostan-3-one + NADH + H+.
androsterone dehydrogenase activity	Catalysis of the reaction: NAD(P)+ + androsterone = NAD(P)H + H+ + 5-alpha-androstane-3,17-dione.
electron transfer activity	Any molecular entity that serves as an electron acceptor and electron donor in an electron transport chain. An electron transport chain is a process in which a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient.
identical protein binding	Binding to an identical protein or proteins.
NAD-retinol dehydrogenase activity	Catalysis of the reaction: retinol + NAD+ = retinal + NADH + H+.
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.
steroid dehydrogenase activity	Catalysis of an oxidation-reduction (redox) reaction in which one substrate is a sterol derivative.

3 GO annotations of biological process

Name	Definition
lipid metabolic process	The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids.
retinol metabolic process	The chemical reactions and pathways involving retinol, one of the three compounds that makes up vitamin A.
steroid metabolic process	The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q02337	BDH1	D-beta-hydroxybutyrate dehydrogenase, mitochondrial	Bos taurus (Bovine)	PR
P80365	HSD11B2	11-beta-hydroxysteroid dehydrogenase type 2	Homo sapiens (Human)	PR
Q02338	BDH1	D-beta-hydroxybutyrate dehydrogenase, mitochondrial	Homo sapiens (Human)	PR
Q8NEX9	SDR9C7	Short-chain dehydrogenase/reductase family 9C member 7	Homo sapiens (Human)	PR
Q9R092	Hsd17b6	17-beta-hydroxysteroid dehydrogenase type 6	Mus musculus (Mouse)	PR
P50233	Hsd11b2	11-beta-hydroxysteroid dehydrogenase type 2	Rattus norvegicus (Rat)	PR
O54753	Hsd17b6	17-beta-hydroxysteroid dehydrogenase type 6	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MWLYLAVFVG	LYYLLHWYRE	RQVLSHLRDK	YVFITGCDSG	FGKLLARQLD	ARGLRVLAAC
70	80	90	100	110	120
LTEKGAEQLR	GQTSDRLETV	TLDVTKTESV	AAAAQWVKEC	VRDKGLWGLV	NNAGISLPTA
130	140	150	160	170	180
PNELLTKQDF	VTILDVNLLG	VIDVTLSLLP	LVRRARGRVV	NVSSVMGRVS	LFGGGYCISK
190	200	210	220	230	240
YGVEAFSDSL	RRELSYFGVK	VAMIEPGYFK	TAVTSKERFL	KSFLEIWDRS	SPEVKEAYGE
250	260	270	280	290	300
KFVADYKKSA	EQMEQKCTQD	LSLVTNCMEH	ALIACHPRTR	YSAGWDAKLL	YLPMSYMPTF
310
LVDAIMYWVS	PSPAKAL