AiPD: Autoinhibited Protein Database

Q9HBH5

Gene name	RDH14 (PAN2, SDR7C4, UNQ529/PRO1072)
Protein name	Retinol dehydrogenase 14
Names	Alcohol dehydrogenase PAN2, Short chain dehydrogenase/reductase family 7C member 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57665
EC number	1.1.1.300: 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)

1-136 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-136 (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 Q9HBH5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9HBH5-F1	Predicted				AlphaFoldDB

341 variants for Q9HBH5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001254942 rs779464218	39	G>missing	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
CA43346017 rs994916454	4	A>P		No	ClinGen TOPMed gnomAD
CA345908943 rs994916454	4	A>T		No	ClinGen TOPMed gnomAD
rs1180964543 CA345908896	6	A>G		No	ClinGen TOPMed gnomAD
CA345908892 rs1315131893	7	A>T		No	ClinGen TOPMed gnomAD
rs1311285433 CA345908872	7	A>V		No	ClinGen TOPMed
CA1541647 rs571090861	8	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA43346016 rs571090861	8	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1572274194 CA345908823	9	V>A		No	ClinGen Ensembl
rs753624193 CA1541646	9	V>I		No	ClinGen ExAC
CA345908769 rs1218658426	11	A>D		No	ClinGen TOPMed gnomAD
CA345908727 rs1289734743	12	A>V		No	ClinGen gnomAD
rs1286769528 CA345908635	16	A>G		No	ClinGen gnomAD
rs1331633645 CA345908640	16	A>P		No	ClinGen TOPMed gnomAD
rs1216605491 CA345908616	17	L>M		No	ClinGen TOPMed
rs1346320122 CA345908599	17	L>P		No	ClinGen TOPMed gnomAD
rs755791682 CA1541644	18	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1276692190 CA345908594	18	W>R		No	ClinGen gnomAD
CA43345995 rs974455647	19	L>R		No	ClinGen Ensembl
CA1541642 rs767024281	20	A>E		No	ClinGen ExAC gnomAD
CA43345980 rs767024281	20	A>G		No	ClinGen ExAC gnomAD
rs752276081 CA1541643	20	A>T		No	ClinGen ExAC gnomAD
CA345908536 rs767024281	20	A>V		No	ClinGen ExAC gnomAD
CA43345973 rs1012567142	21	A>S		No	ClinGen Ensembl
CA345908529 rs1458654594	21	A>V		No	ClinGen gnomAD
CA345908521 rs1386176155	22	R>C		No	ClinGen gnomAD
CA1541640 rs548024692	23	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1287858645 CA345908504	23	R>Q		No	ClinGen gnomAD
rs548024692 CA1541641	23	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs939002575 CA43345962	25	V>L		No	ClinGen gnomAD
rs527352838 CA43345952	27	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527352838 CA1541638	27	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527352838 CA345908448	27	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345908441 rs1161482429	28	R>K		No	ClinGen TOPMed
rs773482520 CA345908434	28	R>S		No	ClinGen ExAC gnomAD
rs376806699 CA43345940	29	V>D		No	ClinGen TOPMed
rs1346659148 CA345908432	29	V>I		No	ClinGen TOPMed gnomAD
CA345908429 rs1346659148	29	V>L		No	ClinGen TOPMed gnomAD
CA345908425 rs1466572944	30	Q>*		No	ClinGen gnomAD
rs1159171695 CA345908419	30	Q>R		No	ClinGen TOPMed gnomAD
rs1358520626 CA345908390	32	L>R		No	ClinGen TOPMed
rs936673750 CA43345924	33	R>C		No	ClinGen TOPMed
TCGA novel	34	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA43345909 rs925395244	35	G>D		No	ClinGen TOPMed gnomAD
rs925395244 CA345908318	35	G>V		No	ClinGen TOPMed gnomAD
rs969216185 CA43345880	36	G>A		No	ClinGen TOPMed
rs969216185 CA43345861	36	G>E		No	ClinGen TOPMed
rs770218312 CA1541636	36	G>W		No	ClinGen ExAC gnomAD
rs201401944 CA1541634 CA345908276	37	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748396364 CA1541635	37	D>Y		No	ClinGen ExAC gnomAD
rs768995407 CA1541633	38	P>L		No	ClinGen ExAC gnomAD
CA345908239 rs1360591363	39	G>D		No	ClinGen gnomAD
rs780159374 CA1541630	40	L>F		No	ClinGen ExAC gnomAD
rs974967329 CA43345807	41	M>L		No	ClinGen TOPMed gnomAD
CA43345800 rs943587445	41	M>R		No	ClinGen gnomAD
CA345908190 rs943587445	41	M>T		No	ClinGen gnomAD
rs541421774 CA1541628	42	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345908173 rs1451880463	42	H>R		No	ClinGen gnomAD
rs1483769429 CA345908141	43	G>A		No	ClinGen gnomAD
rs1483769429 CA345908140	43	G>E		No	ClinGen gnomAD
rs531378672 CA1541627	43	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs950713922 CA43345760	44	K>R		No	ClinGen gnomAD
CA1541625 rs752471993	45	T>A		No	ClinGen ExAC gnomAD
CA345908106 rs1180815874	45	T>I		No	ClinGen TOPMed
rs1558357854 CA345908090	47	L>R		No	ClinGen Ensembl
CA1541624 rs767202026	49	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1541623 rs754639849	49	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1006555626 CA345908065	50	G>R		No	ClinGen TOPMed gnomAD
rs1006555626 CA43345739	50	G>W		No	ClinGen TOPMed gnomAD
rs889290692 CA43345736	51	A>E		No	ClinGen TOPMed
CA345908019 rs1333011448	52	N>S		No	ClinGen TOPMed
rs973443041 CA43345725	53	S>G		No	ClinGen TOPMed gnomAD
rs751055824 CA1541622	53	S>I		No	ClinGen ExAC TOPMed gnomAD
CA345907958 rs1354684799	54	G>D		No	ClinGen gnomAD
CA345907960 rs1271760147	54	G>S		No	ClinGen gnomAD
rs763376231 CA1541620	55	L>R		No	ClinGen ExAC gnomAD
rs1235686106 CA345907902	57	R>P		No	ClinGen gnomAD
rs1052694674 CA43345699	59	T>A		No	ClinGen TOPMed gnomAD
rs1416394360 CA345907845	59	T>M		No	ClinGen gnomAD
rs1052694674 CA345907849	59	T>S		No	ClinGen TOPMed gnomAD
CA43345687 rs936708642	60	A>T		No	ClinGen TOPMed
rs903814812 CA43345685	61	A>S		No	ClinGen TOPMed
CA345907801 rs1180415547	61	A>V		No	ClinGen gnomAD
rs1207446397 CA345907322	65	R>C		No	ClinGen gnomAD
rs1012100734 CA43345663	65	R>H		No	ClinGen TOPMed gnomAD
rs1012100734 CA43345670	65	R>L		No	ClinGen TOPMed gnomAD
CA345907308 rs1223121729	67	G>E		No	ClinGen TOPMed gnomAD
CA345907305 rs1323376462	68	A>T		No	ClinGen gnomAD
CA43345656 rs1034952912	68	A>V		No	ClinGen TOPMed gnomAD
CA345907298 rs1310311920	69	R>Q		No	ClinGen gnomAD
TCGA novel	71	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345907276 rs1227485956	72	M>I		No	ClinGen gnomAD
CA345907281 rs1473166736	72	M>V		No	ClinGen TOPMed
rs929811333 CA43345651	75	R>G		No	ClinGen TOPMed gnomAD
CA43345647 rs918532564	76	D>Y		No	ClinGen TOPMed
CA345907247 rs201020703	77	R>C		No	ClinGen TOPMed gnomAD
rs201020703 CA43345635	77	R>G		No	ClinGen TOPMed gnomAD
rs1308023907 CA345907244	77	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA345907248 rs201020703	77	R>S		No	ClinGen TOPMed gnomAD
CA345907243 rs1352084648	78	A>T		No	ClinGen TOPMed gnomAD
CA345907233 rs1163148974	79	R>P		No	ClinGen gnomAD
rs1017905272 CA43345606	80	A>G		No	ClinGen TOPMed
rs1413030257 CA345907223	81	E>K		No	ClinGen gnomAD
rs985195122	81	E>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1184612044 CA345907204	83	A>V		No	ClinGen TOPMed gnomAD
CA43345592 rs955148412	84	A>E		No	ClinGen TOPMed gnomAD
rs955148412 CA345907200	84	A>G		No	ClinGen TOPMed gnomAD
rs955148412 COSM1185841 CA345907199	84	A>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1489439179 CA345907196	85	G>C		No	ClinGen gnomAD
CA345907195 rs1263551066	85	G>V		No	ClinGen gnomAD
rs1317673480 CA345907182	87	L>F		No	ClinGen TOPMed
rs946436487 CA345907178	88	R>G		No	ClinGen gnomAD
rs946436487 CA43345572	88	R>S		No	ClinGen gnomAD
rs1283403806 CA345907171	89	R>C		No	ClinGen gnomAD
CA345907167 rs1387957663	90	E>K		No	ClinGen gnomAD
CA345907165 rs1387957663	90	E>Q		No	ClinGen gnomAD
CA345907157 rs1370424346	91	L>F		No	ClinGen gnomAD
CA1541614 rs760902304	92	R>C		No	ClinGen ExAC gnomAD
CA345907147 rs775462296	93	Q>*		No	ClinGen ExAC gnomAD
CA345907142 rs1161760076 CA345907143	93	Q>H		No	ClinGen TOPMed gnomAD
CA1541613 rs775462296	93	Q>K		No	ClinGen ExAC gnomAD
CA345907137 rs1168030770	94	A>G		No	ClinGen TOPMed gnomAD
rs1411455434 CA345907133	95	A>T		No	ClinGen gnomAD
rs903867252 CA43345539	96	E>A		No	ClinGen TOPMed
CA345907129 rs1434956264	96	E>K		No	ClinGen TOPMed gnomAD
CA345907128 rs1434956264	96	E>Q		No	ClinGen TOPMed gnomAD
CA345907122 rs1572273145	97	C>G		No	ClinGen Ensembl
CA43345534 rs912095346	99	P>L		No	ClinGen TOPMed gnomAD
rs912095346 CA345907105	99	P>R		No	ClinGen TOPMed gnomAD
CA1541611 CA345907098 rs183426822	100	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345907100 rs1328073562	100	E>G		No	ClinGen gnomAD
rs1045062326 CA43345532	100	E>Q		No	ClinGen TOPMed
rs1234835180 CA345907096	101	P>A		No	ClinGen gnomAD
rs1234835180 CA345907097	101	P>T		No	ClinGen gnomAD
CA345907068 rs1276927157	105	G>E		No	ClinGen TOPMed
CA345907070 rs1440843395	105	G>R		No	ClinGen gnomAD
CA345907063 rs1366477127	106	V>L		No	ClinGen gnomAD
CA345907064 rs1366477127	106	V>M		No	ClinGen gnomAD
CA43345518 rs919248784	108	E>K		No	ClinGen TOPMed gnomAD
CA345907036 rs1467705736	110	I>T		No	ClinGen gnomAD
rs1173342259 CA345907039	110	I>V		No	ClinGen gnomAD
CA345907032 rs138716370	111	V>I		No	ClinGen 1000Genomes gnomAD
rs138716370 CA43345513	111	V>L		No	ClinGen 1000Genomes gnomAD
rs1450009325 CA345907025	112	R>P		No	ClinGen TOPMed gnomAD
rs1450009325 CA345907026	112	R>Q		No	ClinGen TOPMed gnomAD
CA345907027 rs1175377901	112	R>W		No	ClinGen TOPMed gnomAD
rs769710336 CA1541608	113	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	115	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1218788004 CA345907008	115	D>V		No	ClinGen TOPMed
CA345907001 rs1201808082	116	L>F		No	ClinGen gnomAD
CA345907002 rs1201808082	116	L>V		No	ClinGen gnomAD
rs929837153 CA43345487	118	S>L		No	ClinGen TOPMed gnomAD
rs1482036089 CA345906983	119	L>P		No	ClinGen gnomAD
rs1254903262 CA345906976	120	R>L		No	ClinGen gnomAD
CA345906974 rs1408714763	121	S>T		No	ClinGen Ensembl
rs1228436018 CA345906959	123	R>H		No	ClinGen gnomAD
CA345906955 rs1343531902	124	A>T		No	ClinGen gnomAD
CA345906937 rs1478161138	126	C>*		No	ClinGen TOPMed
rs1251286785 CA345906939	126	C>S		No	ClinGen TOPMed gnomAD
rs1300421511 CA345906933	127	Q>*		No	ClinGen TOPMed gnomAD
rs1300421511 CA345906934	127	Q>E		No	ClinGen TOPMed gnomAD
rs1226702310 CA345906932	127	Q>P		No	ClinGen TOPMed gnomAD
rs1023052558 CA43345479	128	E>Q		No	ClinGen TOPMed
CA345906914 rs1360475533	129	M>I		No	ClinGen TOPMed
rs954819891 CA43342113	132	E>*		No	ClinGen TOPMed
rs1290099550 CA345906167	135	R>S		No	ClinGen TOPMed
rs759724081 CA345906145	137	D>N		No	ClinGen ExAC TOPMed gnomAD
CA345906140 rs1391309954	137	D>V		No	ClinGen gnomAD
CA1541591 rs759724081	137	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1393557077 CA345906128	138	V>A		No	ClinGen gnomAD
CA345906107 rs1195551852	139	L>W		No	ClinGen gnomAD
rs1259497975 CA345906096	140	I>L		No	ClinGen Ensembl
rs1020863742 CA43342095	140	I>M		No	ClinGen TOPMed
rs774396486 CA1541590	141	N>S		No	ClinGen ExAC gnomAD
CA1541588 rs748041540	143	A>T		No	ClinGen ExAC TOPMed gnomAD
rs577971098 CA1541585	144	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA1541587 rs780971788	144	G>R		No	ClinGen ExAC gnomAD
rs577971098 CA1541586	144	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs924508887 CA43342054	146	F>I		No	ClinGen gnomAD
rs779823384 CA1541584	147	Q>*		No	ClinGen ExAC
CA1541581 CA1541582 rs558127472	147	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1194603244 CA345905928	148	C>*		No	ClinGen TOPMed gnomAD
rs1250378526 CA345905930	148	C>F		No	ClinGen TOPMed gnomAD
CA1541580 rs778517252	149	P>R		No	ClinGen ExAC TOPMed gnomAD
rs757868662 CA1541579	150	Y>C		No	ClinGen ExAC gnomAD
CA1541577 rs764377618	151	M>R		No	ClinGen ExAC gnomAD
rs754328599 CA1541578	151	M>V		No	ClinGen ExAC gnomAD
rs1272848809 CA345905860	152	K>R		No	ClinGen gnomAD
rs1308339433 CA345905764	156	G>E		No	ClinGen TOPMed
rs1043348005 CA43341963	158	E>G		No	ClinGen Ensembl
CA345905726 rs1441500486	158	E>K		No	ClinGen gnomAD
rs375822735 CA1541574	159	M>V		No	ClinGen ESP ExAC gnomAD
CA345905636 rs759709347	162	G>*		No	ClinGen ExAC TOPMed gnomAD
CA1541572 COSM1239642 CA43341944 rs759709347	162	G>R	upper_aerodigestive_tract oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA43341941 rs1053542632	166	L>M		No	ClinGen TOPMed
CA345905546 rs1159556026	168	H>R		No	ClinGen gnomAD
rs761755431 CA1541569	170	L>I		No	ClinGen ExAC gnomAD
rs1244533674 CA345905461	172	T>N		No	ClinGen TOPMed
rs149867802 CA1541567	173	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA345905379 rs1201629416	175	L>H		No	ClinGen gnomAD
CA43341868 rs141384613	176	L>P		No	ClinGen ESP
rs1044987479 CA43341876	176	L>V		No	ClinGen TOPMed gnomAD
CA345905345 rs1479819959	177	G>E		No	ClinGen TOPMed
rs1274348870 CA345905349	177	G>R		No	ClinGen TOPMed
rs950237604 CA43341858	178	L>I		No	ClinGen TOPMed
rs541884628 CA43341852	181	S>G		No	ClinGen Ensembl
rs746861712 CA1541566	181	S>N		No	ClinGen ExAC
CA1541565 rs775126614	181	S>R		No	ClinGen ExAC gnomAD
rs1558355018 CA345905245	182	S>*		No	ClinGen Ensembl
rs771777288 CA1541564	183	A>S		No	ClinGen ExAC gnomAD
CA345905236 rs771777288	183	A>T		No	ClinGen ExAC gnomAD
rs1331508907 CA345905112	187	I>F		No	ClinGen gnomAD
CA1541562 rs377520259	188	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs534810559 CA1541561	189	V>G		No	ClinGen 1000Genomes ExAC gnomAD
CA345905032 rs1383314942	191	S>F		No	ClinGen TOPMed
rs1370076004 CA345905014	192	S>F		No	ClinGen gnomAD
CA345905011 rs1321014969	193	K>E		No	ClinGen gnomAD
CA43341806 rs201424633	198	G>R		No	ClinGen TOPMed gnomAD
rs778406519 CA1541557	199	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1414600138 CA345904797	199	D>N		No	ClinGen gnomAD
rs549174341 CA1541555	203	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549174341 CA43341782	203	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1394953143 CA345904600	204	D>N		No	ClinGen gnomAD
rs1558354949 CA345904553	205	L>F		No	ClinGen Ensembl
CA1541554 rs753131752	208	E>K		No	ClinGen ExAC gnomAD
rs767737356 CA1541553	210	S>N		No	ClinGen ExAC TOPMed gnomAD
CA1541552 rs755199486	211	Y>C		No	ClinGen ExAC gnomAD
CA43341720 rs138843648	212	N>I		No	ClinGen ESP TOPMed
CA1541550 rs766576609	215	F>L		No	ClinGen ExAC gnomAD
rs929314804 CA43341698	217	Y>C		No	ClinGen TOPMed gnomAD
CA1541548 rs574702098	219	R>L		No	ClinGen 1000Genomes ExAC TOPMed
CA1541549 rs574702098	219	R>Q		No	ClinGen 1000Genomes ExAC TOPMed
CA345904298 rs1217509093	219	R>W		No	ClinGen TOPMed gnomAD
rs764142386 CA1541547	220	S>N		No	ClinGen ExAC gnomAD
CA43341678 rs201455737	220	S>R		No	ClinGen 1000Genomes gnomAD
rs1306105017 CA345904274	220	S>R		No	ClinGen TOPMed
CA345904241 rs1230422253	223	A>D		No	ClinGen gnomAD
CA345904210 rs1558354887	226	L>V		No	ClinGen Ensembl
TCGA novel	227	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA43341646 rs756345411	228	T>A		No	ClinGen TOPMed
CA345904173 rs1360492827	229	R>G		No	ClinGen gnomAD
rs185675117 CA43341645	230	E>D		No	ClinGen 1000Genomes
CA1541544 rs777354299	231	L>Q		No	ClinGen ExAC gnomAD
rs1331649921 CA345904133	231	L>V		No	ClinGen gnomAD
CA1541543 rs373938743	232	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs143289874 CA1541542	233	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA345904112 rs1432677765	233	R>H		No	ClinGen TOPMed gnomAD
CA1541541 rs745527641	234	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1541540 rs201623319	234	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1239384728 CA345904074	236	E>G		No	ClinGen TOPMed gnomAD
CA345904081 rs1473267837	236	E>K		No	ClinGen gnomAD
rs987745766 CA43341613	237	G>D		No	ClinGen TOPMed gnomAD
rs1023615965 CA43341614	237	G>S		No	ClinGen TOPMed
CA345904015 rs1208884252	240	V>A		No	ClinGen gnomAD
rs138173772 CA1541538	241	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs774100498 CA1541536	242	V>I		No	ClinGen ExAC TOPMed gnomAD
CA345903985 rs1288821418	243	N>D		No	ClinGen TOPMed
rs1288821418 CA345903987	243	N>H		No	ClinGen TOPMed
CA1541535 rs141886106	243	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA345903974 rs1228622099	244	V>M		No	ClinGen TOPMed gnomAD
rs1380950216 CA345903953	245	L>S		No	ClinGen gnomAD
rs1179825761 CA345903925	246	H>Q		No	ClinGen gnomAD
CA345903936 rs1282028365	246	H>Y		No	ClinGen gnomAD
rs141569821 CA1541533	250	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1413710696 CA345903885	250	V>L		No	ClinGen gnomAD
CA1541532 rs565233813	251	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1309257924 CA345903878	251	R>W		No	ClinGen TOPMed gnomAD
rs1353228107 CA345903860	252	T>R		No	ClinGen gnomAD
CA1541531 rs751917838	253	N>D		No	ClinGen ExAC gnomAD
rs1416282289 CA345903838	254	L>P		No	ClinGen gnomAD
rs758597449 CA1541529	256	R>K		No	ClinGen ExAC gnomAD
CA345903768 rs1184386204	259	H>D		No	ClinGen gnomAD
rs1479628544 CA345903759	260	I>F		No	ClinGen TOPMed gnomAD
CA1541527 rs199868568	261	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs200669704 CA1541524	265	K>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200669704 CA1541523	265	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1541522 rs144461545	266	P>L		No	ClinGen ESP ExAC gnomAD
rs139953107 CA1541521	267	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1289717880 CA345903652	268	F>V		No	ClinGen gnomAD
CA345903651 rs1407402387	268	F>Y		No	ClinGen gnomAD
rs1413652579 CA345903638	269	N>H		No	ClinGen TOPMed
rs201317560 CA1541519	269	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1541516 rs199674055	270	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1541518 rs747683166	270	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780348222 CA1541514 CA1541513	271	V>L		No	ClinGen ExAC TOPMed gnomAD
rs780348222 CA1541515	271	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1047979356 CA43341451	273	W>R		No	ClinGen TOPMed gnomAD
CA345903523 rs879491914	277	K>R		No	ClinGen TOPMed gnomAD
CA43341414 rs879491914	277	K>T		No	ClinGen TOPMed gnomAD
rs1292633731 CA345903502	279	P>A		No	ClinGen gnomAD
CA43341404 rs765317064	279	P>L		No	ClinGen TOPMed gnomAD
rs74378191 CA1541509	280	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1541507 rs748496321	283	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1223630865 CA345903420	285	T>A		No	ClinGen TOPMed
rs767601111 CA1541506	285	T>I		No	ClinGen ExAC gnomAD
rs982917976 CA43341384	287	I>M		No	ClinGen Ensembl
rs763790575 CA43341383	288	Y>C		No	ClinGen Ensembl
CA345903344 rs1572267591	290	A>S		No	ClinGen Ensembl
rs766213478 CA1541503	290	A>V		No	ClinGen ExAC gnomAD
rs1219927422 CA345903325	291	S>F		No	ClinGen TOPMed
CA43341378 rs920057819	295	V>A		No	ClinGen gnomAD
rs1236303564 CA345903238	296	E>K		No	ClinGen gnomAD
CA345903218 rs1315809648	297	G>R		No	ClinGen gnomAD
CA1541501 rs762685241	298	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA345903104 rs1558354598	302	Y>*		No	ClinGen Ensembl
rs200234641 CA1541500	302	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA1541499 rs769486672	303	F>L		No	ClinGen ExAC TOPMed gnomAD
rs761271866 CA1541498	303	F>S		No	ClinGen ExAC gnomAD
CA345903061 rs1458920155	304	G>W		No	ClinGen TOPMed gnomAD
CA43341315 rs865995458	305	D>Y		No	ClinGen Ensembl
CA1541496 rs776099223	306	C>Y		No	ClinGen ExAC gnomAD
TCGA novel	307	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769173735 CA1541495	307	K>N		No	ClinGen ExAC TOPMed gnomAD
CA1541494 rs747475549	310	E>Q		No	ClinGen ExAC gnomAD
rs1434872963 CA345902871	313	P>S		No	ClinGen gnomAD
rs1385109443 CA345902799	316	M>R		No	ClinGen TOPMed
rs368455068 CA1541493	316	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA345902754 rs1192829161	318	E>*		No	ClinGen gnomAD
rs574844352 CA345902743	318	E>D		No	ClinGen gnomAD
CA1541492 rs772267202	319	S>C		No	ClinGen ExAC TOPMed gnomAD
CA43341286 rs772267202	319	S>F		No	ClinGen ExAC TOPMed gnomAD
CA345902739 rs1249582463	319	S>P		No	ClinGen gnomAD
CA345902735 rs772267202	319	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs373588347 CA1541490	321	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs746228340 CA1541491	321	A>S		No	ClinGen ExAC gnomAD
CA345902704 rs746228340	321	A>T		No	ClinGen ExAC gnomAD
rs373588347 CA345902691	321	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1541489 rs757466794	323	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	323	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345902628 rs1350740545	324	L>R		No	ClinGen gnomAD
rs1032251917 CA43341268	325	W>*		No	ClinGen TOPMed
rs754015821 CA1541488	325	W>R		No	ClinGen ExAC TOPMed gnomAD
rs777947764 CA1541487	326	D>A		No	ClinGen ExAC gnomAD
CA345902598 rs1358559817	326	D>E		No	ClinGen TOPMed
TCGA novel	326	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754973561 CA1541486	328	S>N		No	ClinGen ExAC gnomAD
CA43341251 rs980470576	331	M>V		No	ClinGen TOPMed
CA345902481 rs1438115279	332	V>A		No	ClinGen TOPMed
CA1541481 rs758196501	335	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1172931056 CA345902447	336	K>Q		No	ClinGen gnomAD
rs750203560 CA1541480	336	K>R		No	ClinGen ExAC gnomAD

No associated diseases with Q9HBH5

No regional properties for Q9HBH5

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9HBH5

Functions

		Description
EC Number	1.1.1.300	With NAD(+) or NADP(+) as acceptor
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 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 membrane	The lipid bilayer surrounding the endoplasmic reticulum.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

2 GO annotations of molecular function

Name	Definition
11-cis-retinol dehydrogenase activity	Catalysis of the reaction: 11-cis-retinol + NADP = 11-cis-retinal + NADPH + H+.
NADP-retinol dehydrogenase activity	Catalysis of the reaction: all-trans-retinol + NADP+ = all-trans-retinal + NADPH + H+.

1 GO annotations of biological process

Name	Definition
osteoblast differentiation	The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P53878	YNL181W	Uncharacterized oxidoreductase YNL181W	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q9VLU5	Wwox	WW domain-containing oxidoreductase	Drosophila melanogaster (Fruit fly)	PR
P16152	CBR1	Carbonyl reductase [NADPH] 1	Homo sapiens (Human)	PR
O75828	CBR3	Carbonyl reductase [NADPH] 3	Homo sapiens (Human)	PR
A6NN90	C2orf81	Uncharacterized protein C2orf81	Homo sapiens (Human)	PR
Q9NZC7	WWOX	WW domain-containing oxidoreductase	Homo sapiens (Human)	PR
Q91WL8	Wwox	WW domain-containing oxidoreductase	Mus musculus (Mouse)	PR
Q8CEE7	Rdh13	Retinol dehydrogenase 13	Mus musculus (Mouse)	PR
Q9DAQ4		Uncharacterized protein C2orf81 homolog	Mus musculus (Mouse)	PR
Q9ERI6	Rdh14	Retinol dehydrogenase 14	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
MAVATAAAVL	AALGGALWLA	ARRFVGPRVQ	RLRRGGDPGL	MHGKTVLITG	ANSGLGRATA
70	80	90	100	110	120
AELLRLGARV	IMGCRDRARA	EEAAGQLRRE	LRQAAECGPE	PGVSGVGELI	VRELDLASLR
130	140	150	160	170	180
SVRAFCQEML	QEEPRLDVLI	NNAGIFQCPY	MKTEDGFEMQ	FGVNHLGHFL	LTNLLLGLLK
190	200	210	220	230	240
SSAPSRIVVV	SSKLYKYGDI	NFDDLNSEQS	YNKSFCYSRS	KLANILFTRE	LARRLEGTNV
250	260	270	280	290	300
TVNVLHPGIV	RTNLGRHIHI	PLLVKPLFNL	VSWAFFKTPV	EGAQTSIYLA	SSPEVEGVSG
310	320	330
RYFGDCKEEE	LLPKAMDESV	ARKLWDISEV	MVGLLK