AiPD: Autoinhibited Protein Database

O75828

Gene name	CBR3
Protein name	Carbonyl reductase [NADPH] 3
Names	NADPH-dependent carbonyl reductase 3, Quinone reductase CBR3, Short chain dehydrogenase/reductase family 21C member 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:874
EC number	1.6.5.10: With a quinone or similar compound as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

121-277 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

121-277 (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

2 structures for O75828

Entry ID	Method	Resolution	Chain	Position	Source
2HRB	X-ray	190 A	A	6-277	PDB
AF-O75828-F1	Predicted				AlphaFoldDB

248 variants for O75828

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs770963323 CA10015578	2	S>*		No	ClinGen ExAC gnomAD
rs770963323 CA10015577	2	S>L		No	ClinGen ExAC gnomAD
CA10015576 rs749373377	2	S>P		No	ClinGen ExAC
CA409877218 rs1273306760	3	S>P		No	ClinGen gnomAD
rs1483142722 CA409877223	3	S>Y		No	ClinGen gnomAD
rs8133052 CA409877240	4	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs8133052 VAR_033868 CA10015580	4	C>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775199518 CA10015581	6	R>C		No	ClinGen ExAC gnomAD
rs1422487760 CA409877284	7	V>G		No	ClinGen gnomAD
rs1369513300 CA409877307	9	L>P		No	ClinGen TOPMed gnomAD
rs1369513300 CA409877308	9	L>R		No	ClinGen TOPMed gnomAD
CA409877343 rs1370031368	12	G>E		No	ClinGen gnomAD
CA10015583 rs763727652 CA409877337	12	G>R		No	ClinGen ExAC gnomAD
CA10015584 rs776198944	13	A>D		No	ClinGen ExAC gnomAD
CA409877386 rs1376665722	14	N>K		No	ClinGen gnomAD
CA10015585 rs574795759	15	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs764614988 CA10015586	15	R>K		No	ClinGen ExAC gnomAD
CA409877429 rs1384840341	17	I>F		No	ClinGen gnomAD
rs1226098657 CA409877438	17	I>T		No	ClinGen TOPMed gnomAD
CA409877459 rs1601347906	18	G>D		No	ClinGen Ensembl
rs1296226358 CA409877452	18	G>S		No	ClinGen gnomAD
CA10015587 CA10015588 rs200563007	19	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1342334257 CA409877470	19	L>S		No	ClinGen gnomAD
CA409877506 rs1482742669	22	A>E		No	ClinGen gnomAD
rs1482742669 CA409877509	22	A>V		No	ClinGen gnomAD
CA320299877 rs969823249	23	R>C		No	ClinGen Ensembl
CA320299887 rs980211521	23	R>L		No	ClinGen TOPMed
rs1035354567 CA320299891	26	C>Y		No	ClinGen TOPMed gnomAD
CA409877583 rs1446900000	27	R>Q		No	ClinGen gnomAD
rs768139296 CA10015589	28	Q>*		No	ClinGen ExAC gnomAD
rs1389616712 CA409877637	29	F>Y		No	ClinGen gnomAD
rs778118640 CA10015593	32	D>V		No	ClinGen ExAC gnomAD
CA10015594 rs563525294	33	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA10015595 rs757528534	35	L>F		No	ClinGen ExAC gnomAD
rs1426367031 CA409877823	37	A>T		No	ClinGen TOPMed
CA409877874 rs992376255	39	D>E		No	ClinGen gnomAD
CA10015596 rs778802502	40	V>M		No	ClinGen ExAC gnomAD
rs745966181 CA10015597	41	A>T		No	ClinGen ExAC gnomAD
TCGA novel	42	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1021362849 CA320299941	42	R>W		No	ClinGen TOPMed gnomAD
CA10015598 rs771994596	44	Q>P		No	ClinGen ExAC gnomAD
rs768484134 CA10015601	47	V>E		No	ClinGen ExAC gnomAD
CA10015600 rs746788841	47	V>M		No	ClinGen ExAC gnomAD
rs374238468 CA320299977	49	Q>H		No	ClinGen ESP TOPMed gnomAD
CA10015602 rs112226760	51	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761325372 CA10015603	52	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761325372 CA409878186	52	A>G		No	ClinGen ExAC gnomAD
CA320299984 rs979603464	52	A>T		No	ClinGen TOPMed gnomAD
CA409878205 rs1432818403	53	E>*		No	ClinGen gnomAD
CA409878247 rs1431131951	54	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10015604 rs769497289	54	G>S		No	ClinGen ExAC gnomAD
CA409878250 rs1431131951	54	G>V		No	ClinGen TOPMed gnomAD
CA10015607 rs768120895	57	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10015608 rs752162536	59	F>C		No	ClinGen ExAC TOPMed gnomAD
rs761088565 CA10015609	59	F>L		No	ClinGen ExAC gnomAD
CA409878355 rs752162536	59	F>S		No	ClinGen ExAC TOPMed gnomAD
rs199626050 CA320300013	60	H>R		No	ClinGen Ensembl
rs985117366 CA320300015	61	Q>E		No	ClinGen TOPMed
CA409878393 rs1453699574	62	L>M		No	ClinGen TOPMed
CA10015611 rs764324495	63	D>A		No	ClinGen ExAC TOPMed gnomAD
CA10015612 rs764324495	63	D>G		No	ClinGen ExAC TOPMed gnomAD
rs932744027 CA320300049	65	D>N		No	ClinGen gnomAD
CA409878461 rs932744027	65	D>Y		No	ClinGen gnomAD
CA409878519 rs1326056727	67	L>F		No	ClinGen gnomAD
TCGA novel	68	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409878560 rs1309455683	69	S>N		No	ClinGen TOPMed
TCGA novel	70	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757355806 CA10015613	71	R>G		No	ClinGen ExAC gnomAD
rs758526794 CA10015616	72	A>D		No	ClinGen ExAC TOPMed gnomAD
CA10015615 rs750455904	72	A>T		No	ClinGen ExAC TOPMed gnomAD
rs746911567 CA10015618	74	R>C		No	ClinGen ExAC gnomAD
rs768605412 CA10015619	75	D>E		No	ClinGen ExAC TOPMed gnomAD
CA10015620 rs144228729	77	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10015621 rs747975979	77	L>P		No	ClinGen ExAC gnomAD
rs1402368045 CA409878775	78	R>C		No	ClinGen gnomAD
CA10015623 rs772971334	78	R>H		No	ClinGen ExAC gnomAD
rs772971334 CA10015624	78	R>P		No	ClinGen ExAC gnomAD
rs770604647 CA10015625	79	K>E		No	ClinGen ExAC gnomAD
CA320300146 rs765857316	80	E>D		No	ClinGen Ensembl
CA409878813 rs1458002018	80	E>K		No	ClinGen gnomAD
CA409878816 rs1458002018	80	E>Q		No	ClinGen gnomAD
CA409878847 rs1382417222	81	Y>F		No	ClinGen TOPMed
rs1444200362 CA409878867	82	G>A		No	ClinGen TOPMed
rs774027205 CA10015627	82	G>W		No	ClinGen ExAC gnomAD
CA10015631 rs754150327	83	G>E		No	ClinGen ExAC gnomAD
rs377655909 CA10015629	83	G>R		No	ClinGen ExAC TOPMed gnomAD
rs754150327 CA10015630	83	G>V		No	ClinGen ExAC gnomAD
COSM4134915 rs9282628 CA10015633 VAR_033869	84	L>V	thyroid [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10015636 rs881711	85	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409878962 rs1482160451	86	V>A		No	ClinGen gnomAD
CA409878956 rs1294063260	86	V>I		No	ClinGen TOPMed gnomAD
rs2835285 VAR_033870 CA320300226	93	V>I		No	ClinGen UniProt TOPMed dbSNP gnomAD
TCGA novel	98	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1270864582 CA409879821	100	P>T		No	ClinGen gnomAD
rs777659934 CA10015663	101	M>T		No	ClinGen ExAC gnomAD
CA10015664 rs749106819	105	I>T		No	ClinGen ExAC TOPMed gnomAD
rs368106883 CA10015665	108	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10015666 rs778768466	109	M>L		No	ClinGen ExAC TOPMed gnomAD
rs745350049 CA10015667	109	M>T		No	ClinGen ExAC gnomAD
rs1464403839 CA409880012	111	L>P		No	ClinGen gnomAD
CA10015668 rs771652709	114	N>I		No	ClinGen ExAC TOPMed
CA10015671 rs748644095	115	F>S		No	ClinGen ExAC gnomAD
CA10015670 rs774897801	115	F>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761167907	117	A>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1171696967 CA409880146	117	A>T		No	ClinGen gnomAD
TCGA novel	117	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144087608 CA10015673	118	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs770219023 CA10015672	118	T>P		No	ClinGen ExAC gnomAD
rs1382170046 CA409880254 CA409880251	121	M>I		No	ClinGen TOPMed gnomAD
CA10015675 rs375932579	121	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs146500734 CA10015676	122	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1328344280 CA409880265	122	C>Y		No	ClinGen gnomAD
RCV000952787 CA10015678 COSM1030479 rs200786415	124	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA10015679 rs752742679	125	L>I		No	ClinGen ExAC gnomAD
CA10015680 rs756019625	126	L>P		No	ClinGen ExAC gnomAD
CA10015681 rs140773531	127	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA409880384 rs757167596	129	M>K		No	ClinGen ExAC gnomAD
rs757167596 CA10015683	129	M>T		No	ClinGen ExAC gnomAD
rs745496573 CA10015685	131	P>L		No	ClinGen ExAC gnomAD
VAR_033871 CA10015684 rs16993929	131	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs763603082 CA320303347	132	H>Y		No	ClinGen Ensembl
CA10015687 rs369860904	133	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs953572096 CA320311594	134	R>G		No	ClinGen TOPMed
CA10015708 COSM1030480 rs369768555	134	R>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA320311601 rs369768555	134	R>T		No	ClinGen ExAC TOPMed gnomAD
CA10015711 rs779279934	135	V>A		No	ClinGen ExAC TOPMed gnomAD
CA409882381 rs779279934	135	V>G		No	ClinGen ExAC TOPMed gnomAD
rs139015776 CA10015709	135	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10015710 rs139015776	135	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409882402 rs1160105071	137	N>D		No	ClinGen TOPMed
CA409882424 rs1202557834	138	I>N		No	ClinGen gnomAD
rs554918969 CA10015712	139	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10015714 rs775625890	141	L>F		No	ClinGen ExAC TOPMed gnomAD
CA409882588 rs1297553984	144	L>F		No	ClinGen gnomAD
rs760777725 CA10015715	145	R>S		No	ClinGen ExAC gnomAD
rs200777567 CA10015718	149	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA320311637 rs934762241	149	N>S		No	ClinGen TOPMed gnomAD
rs747510283 CA10015719	150	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1283909620 CA409882791	150	C>Y		No	ClinGen Ensembl
rs914608386 CA320311651	152	E>K		No	ClinGen TOPMed
rs765272273 CA10015720	153	D>E		No	ClinGen ExAC gnomAD
rs1371738724 CA409882905	153	D>H		No	ClinGen gnomAD
CA10015722 rs750230536	155	Q>*		No	ClinGen ExAC gnomAD
CA409882986 rs1329089985	156	E>G		No	ClinGen TOPMed
CA10015724 rs766029590	157	R>S		No	ClinGen ExAC gnomAD
TCGA novel	158	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372587458 CA10015725	158	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA10015726 rs754654354	160	S>G		No	ClinGen ExAC gnomAD
rs377090354 CA10015727	160	S>R		No	ClinGen ESP ExAC gnomAD
CA320311718 rs771040164	164	T>I		No	ClinGen ExAC TOPMed
CA10015729 rs771040164	164	T>K		No	ClinGen ExAC TOPMed
rs1040209707 CA320311723	165	E>D		No	ClinGen TOPMed
rs558259510 CA320311724	166	G>E		No	ClinGen 1000Genomes
CA320311735 rs920664717	167	D>E		No	ClinGen Ensembl
CA320311726 rs901640160	167	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1229241189 CA409883363	169	V>M		No	ClinGen gnomAD
CA10015733 rs758729864	172	M>T		No	ClinGen ExAC gnomAD
CA409883539 rs1386395506	174	K>R		No	ClinGen TOPMed
rs1244252582 CA409883573	175	F>S		No	ClinGen gnomAD
CA409883755 rs1186685304	181	N>H		No	ClinGen gnomAD
CA409883759 rs1261130396	181	N>T		No	ClinGen gnomAD
CA409883821 rs1601357322	182	E>D		No	ClinGen Ensembl
rs769015848 CA10015737	183	V>A		No	ClinGen ExAC gnomAD
CA10015736 rs146935243	183	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10015735 rs146935243	183	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409883844 rs1375700223	184	H>R		No	ClinGen gnomAD
rs879383414 CA320311803	184	H>Y		No	ClinGen Ensembl
rs1469137042 CA409883852	185	E>K		No	ClinGen gnomAD
CA409883887 rs1176927848	186	R>W		No	ClinGen gnomAD
rs926548898 CA320311827	187	E>*		No	ClinGen Ensembl
rs748308655 CA10015739	189	W>R		No	ClinGen ExAC TOPMed gnomAD
rs769761570 CA10015740	190	P>S		No	ClinGen ExAC TOPMed gnomAD
rs773068810 CA10015741	193	P>S		No	ClinGen ExAC TOPMed gnomAD
CA10015742 rs762773447	195	G>A		No	ClinGen ExAC gnomAD
CA320311863 rs527633012	196	V>L		No	ClinGen gnomAD
CA409884302 rs527633012	196	V>M		No	ClinGen gnomAD
CA409884340 rs1191190501	197	S>P		No	ClinGen gnomAD
CA320311867 rs982060806	198	K>M		No	ClinGen TOPMed
rs982060806 CA409884422	198	K>T		No	ClinGen TOPMed
rs191411345 CA320311893	199	L>F		No	ClinGen 1000Genomes
rs766045328 CA10015743	199	L>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	201	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10015745 rs141887975	202	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10015746 COSM1190347 rs141887975	202	T>M	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA10015750 rs148150797	205	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs148150797 CA10015749	205	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs758968014 CA10015752	210	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10015753 rs780228078	211	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10015754 rs141949108	211	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA320311939 rs141949108	211	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409884825 rs1320405026	212	L>M		No	ClinGen TOPMed gnomAD
CA10015755 rs755251391	213	D>N		No	ClinGen ExAC gnomAD
CA409884874 rs1291313344	214	E>D		No	ClinGen gnomAD
rs781624356 CA10015756	214	E>K		No	ClinGen ExAC TOPMed gnomAD
rs769801024 CA10015758	219	D>G		No	ClinGen ExAC gnomAD
CA10015757 rs748212580	219	D>N		No	ClinGen ExAC gnomAD
rs773370476 CA10015759	220	R>K		No	ClinGen ExAC gnomAD
CA409885008 rs1347842530	221	I>V		No	ClinGen gnomAD
rs1443845435 CA409885060	223	V>G		No	ClinGen gnomAD
rs554647956 CA320312006	225	A>T		No	ClinGen 1000Genomes
CA10015762 rs576089419	225	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA10015764 rs759392706	227	C>F		No	ClinGen ExAC gnomAD
CA409885141 rs1318080516	227	C>R		No	ClinGen gnomAD
CA409885139 rs1318080516	227	C>S		No	ClinGen gnomAD
rs1330644005 CA409885172	228	P>L		No	ClinGen gnomAD
CA409885165 rs1289691285	228	P>S		No	ClinGen gnomAD
rs369106912 CA10015765	229	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409885201 rs1220765183	230	P>Q		No	ClinGen TOPMed
CA409885224 rs1468448412	231	V>E		No	ClinGen gnomAD
CA10015766 rs532469138	231	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532469138 CA320312023	231	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1420816947 CA409885262	232	K>N		No	ClinGen gnomAD
CA409885250 rs1408567038	232	K>Q		No	ClinGen gnomAD
CA409885270 rs1161053634	233	T>A		No	ClinGen gnomAD
rs1043516431 CA320312024	234	D>N		No	ClinGen Ensembl
VAR_033872 rs4987121 CA10015769	235	M>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs754355851 CA320312034	235	M>T		No	ClinGen TOPMed gnomAD
CA10015770 rs4987121	235	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766978505 CA10015771	236	D>G		No	ClinGen ExAC gnomAD
rs1469762315 CA409885341	237	G>R		No	ClinGen gnomAD
rs11701643 CA320312040	239	D>V		No	ClinGen Ensembl
rs751963550 CA10015772	242	R>G		No	ClinGen ExAC gnomAD
VAR_033873 CA10015773 rs1056892	244	V>M	increased carbonyl reductase (NADPH) activity; exhibits a 2-fold higher Vmax with menadione; higher Vmax with NADP(H); does not affect Km for menadione [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA409885500 rs1601357531	245	E>D		No	ClinGen Ensembl
CA10015774 rs781530037	246	E>*		No	ClinGen ExAC TOPMed gnomAD
CA409885505 rs781530037	246	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	247	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10015776 rs756379517	248	A>T		No	ClinGen ExAC TOPMed gnomAD
rs548362820 CA10015778	250	T>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1601357544 CA409885575	250	T>P		No	ClinGen Ensembl
rs370219967 CA10015779	251	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1203490307 CA409885603	253	Y>C		No	ClinGen gnomAD
CA409885599 rs1436319009	253	Y>N		No	ClinGen gnomAD
rs1601357563 CA409885617	255	A>D		No	ClinGen Ensembl
rs1181736531 CA409885635	258	P>S		No	ClinGen gnomAD
rs745640377 CA409885639	259	P>S		No	ClinGen ExAC gnomAD
rs745640377 CA10015782	259	P>T		No	ClinGen ExAC gnomAD
rs1444756999 CA409885644	260	D>N		No	ClinGen gnomAD
rs141918656 CA10015784	262	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA409885676 rs1409024194	263	E>K		No	ClinGen TOPMed gnomAD
rs768362650 CA10015786	270	H>L		No	ClinGen ExAC gnomAD
CA409885808 rs768362650	270	H>R		No	ClinGen ExAC gnomAD
rs776002317 CA10015787	271	D>G		No	ClinGen ExAC gnomAD
rs1601357601 CA409885829	271	D>N		No	ClinGen Ensembl
rs761449137 CA10015788	272	K>R		No	ClinGen ExAC TOPMed gnomAD
CA409885899 rs1472091971	273	V>A		No	ClinGen gnomAD
rs1317275693 CA409885903	274	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs375409364 CA10015792	275	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with O75828

1 regional properties for O75828

Type	Name	Position	InterPro Accession
conserved_site	Short-chain dehydrogenase/reductase, conserved site	181 - 209	IPR020904

Functions

		Description
EC Number	1.6.5.10	With a quinone or similar compound as acceptor
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 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.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

4 GO annotations of molecular function

Name	Definition
carbonyl reductase (NADPH) activity	Catalysis of the reaction: R-CHOH-R' + NADP+ = R-CO-R' + NADPH + H+.
NADPH binding	Binding to the reduced form, NADPH, of nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions.
NADPH dehydrogenase (quinone) activity	Catalysis of the reaction: NADPH + H+ + a quinone = NADP+ + a quinol.
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
cognition	The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.
xenobiotic metabolic process	The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VLU5	Wwox	WW domain-containing oxidoreductase	Drosophila melanogaster (Fruit fly)	PR
A6NN90	C2orf81	Uncharacterized protein C2orf81	Homo sapiens (Human)	PR
Q9HBH5	RDH14	Retinol dehydrogenase 14	Homo sapiens (Human)	PR
Q9NZC7	WWOX	WW domain-containing oxidoreductase	Homo sapiens (Human)	PR
P16152	CBR1	Carbonyl reductase [NADPH] 1	Homo sapiens (Human)	PR
Q91WL8	Wwox	WW domain-containing oxidoreductase	Mus musculus (Mouse)	PR
Q8CEE7	Rdh13	Retinol dehydrogenase 13	Mus musculus (Mouse)	PR
Q9ERI6	Rdh14	Retinol dehydrogenase 14	Mus musculus (Mouse)	PR
Q9DAQ4		Uncharacterized protein C2orf81 homolog	Mus musculus (Mouse)	PR
Q6AXP4		Uncharacterized protein C2orf81 homolog	Rattus norvegicus (Rat)	PR
A2RVM0	TIC32	Short-chain dehydrogenase TIC 32, chloroplastic	Arabidopsis thaliana (Mouse-ear cress)	PR
Q803A8	wwox	WW domain-containing oxidoreductase	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MSSCSRVALV	TGANRGIGLA	IARELCRQFS	GDVVLTARDV	ARGQAAVQQL	QAEGLSPRFH
70	80	90	100	110	120
QLDIDDLQSI	RALRDFLRKE	YGGLNVLVNN	AAVAFKSDDP	MPFDIKAEMT	LKTNFFATRN
130	140	150	160	170	180
MCNELLPIMK	PHGRVVNISS	LQCLRAFENC	SEDLQERFHS	ETLTEGDLVD	LMKKFVEDTK
190	200	210	220	230	240
NEVHEREGWP	NSPYGVSKLG	VTVLSRILAR	RLDEKRKADR	ILVNACCPGP	VKTDMDGKDS
250	260	270
IRTVEEGAET	PVYLALLPPD	ATEPQGQLVH	DKVVQNW