AiPD: Autoinhibited Protein Database

Q96LJ7

Gene name	DHRS1
Protein name	Dehydrogenase/reductase SDR family member 1
Names	Short chain dehydrogenase/reductase family 19C member 1, Protein SDR19C1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:115817
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

32-106 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

32-106 (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 Q96LJ7

Entry ID	Method	Resolution	Chain	Position	Source
2QQ5	X-ray	180 A	A	3-262	PDB
AF-Q96LJ7-F1	Predicted				AlphaFoldDB

269 variants for Q96LJ7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1313927394 CA389205987	2	A>T		No	gnomAD ClinGen
rs1412057227 CA389205940	2	A>V		No	ClinGen TOPMed
CA389205909 rs1344016359	3	A>G		No	TOPMed gnomAD ClinGen
CA389205931 rs1230936037	3	A>S		No	ClinGen TOPMed gnomAD
CA389205906 rs1344016359	3	A>V		No	ClinGen TOPMed gnomAD
rs762707146 CA7132564	4	P>S		No	ClinGen ExAC gnomAD
rs200356670 CA7132563	5	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1400798154 CA389205871	5	M>V		No	gnomAD ClinGen
rs202001969 CA7132562	6	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7132561 rs748097310	7	G>V		No	ClinGen ExAC gnomAD
rs193095681 CA7132560	8	Q>*		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA257881497 rs17851364	9	V>A		No	Ensembl ClinGen
rs768671081 CA7132559	9	V>M		No	ClinGen ExAC gnomAD
CA7132558 rs745900117	12	V>M		No	ClinGen ExAC gnomAD
rs778981660 CA7132557	13	T>I		No	ClinGen ExAC gnomAD
rs1407013000 CA389205582	14	G>D		No	ClinGen TOPMed
CA7132556 rs757407969	16	S>P		No	ClinGen ExAC gnomAD
rs749581359 CA7132555	18	G>S		No	ExAC gnomAD ClinGen
CA389205489 rs1337280701	19	I>V		No	ClinGen TOPMed gnomAD
COSM1237217 rs756482236 CA7132553	20	G>D	parathyroid [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs778189762 CA7132554	20	G>S		No	ExAC gnomAD ClinGen
rs753215367 CA7132552	21	R>H		No	ExAC TOPMed gnomAD ClinGen
CA257881475 rs758489787	22	G>A		No	ClinGen ExAC TOPMed gnomAD
rs758489787 CA7132551	22	G>D		No	ExAC TOPMed gnomAD ClinGen
CA7132549 rs755528674	24	A>S		No	ClinGen ExAC gnomAD
CA257881471 rs368336040	24	A>V		No	ClinGen ESP TOPMed
CA7132547 CA257881464 rs11550019	26	Q>H		No	ClinGen ExAC gnomAD
CA7132548 rs751055899	26	Q>K		No	ClinGen ExAC gnomAD
CA257881462 rs61998510	27	L>I		No	Ensembl ClinGen
rs1315963016 CA389205257	28	C>Y		No	TOPMed ClinGen
rs1169293461 CA389205148	30	A>V		No	gnomAD ClinGen
rs1217975920 CA389205128	31	G>S		No	TOPMed ClinGen
CA257881457 rs1040694859	32	A>G		No	ClinGen TOPMed gnomAD
CA389205091 rs1421341286	32	A>S		No	ClinGen TOPMed gnomAD
rs1421341286 CA389205093	32	A>T		No	TOPMed gnomAD ClinGen
CA389205090 rs1040694859	32	A>V		No	TOPMed gnomAD ClinGen
CA7132543 rs765050876	36	I>V		No	ExAC gnomAD ClinGen
CA389204977 rs761477205	37	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7132541 rs140692443	37	T>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs761477205 CA7132542	37	T>S		No	ExAC TOPMed gnomAD ClinGen
rs1306156197 CA389204940	38	G>D		No	gnomAD ClinGen
CA389204900 rs746955860	39	R>C		No	ExAC TOPMed gnomAD ClinGen
rs774414811 CA389204879	39	R>H		No	ClinGen ExAC TOPMed gnomAD
rs774414811 CA7132538	39	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7132539 rs746955860	39	R>S		No	ExAC TOPMed gnomAD ClinGen
CA7132534 rs368510430	41	L>P		No	ClinGen ESP ExAC gnomAD
rs565891970 CA7132535	41	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7132533 COSM1607558 rs540228614	44	L>F	liver [Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated
rs369406238 CA7132531	45	R>H		No	ESP ExAC TOPMed gnomAD ClinGen
rs369406238 CA7132532	45	R>P		No	ESP ExAC TOPMed gnomAD ClinGen
rs752178395 CA389204630	46	V>F		No	ClinGen ExAC TOPMed gnomAD
rs752178395 CA7132530	46	V>I		No	ExAC TOPMed gnomAD ClinGen
CA7132529 rs765157232	47	V>A		No	ExAC TOPMed gnomAD ClinGen
rs758022297 CA7132528	48	A>T		No	ExAC gnomAD ClinGen
rs1268098510 CA389204570	48	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs749980818 COSM3793616 CA7132527	49	Q>*	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA257881428 rs34225269	49	Q>H		No	Ensembl ClinGen
CA257881425 rs201787891	50	E>*		No	TOPMed gnomAD ClinGen
CA389204516 rs201787891	50	E>K		No	TOPMed gnomAD ClinGen
CA389204512 rs201787891	50	E>Q		No	ClinGen TOPMed gnomAD
rs1234785629 CA389204489	50	E>V		No	TOPMed gnomAD ClinGen
CA7132505 rs778492442	55	G>R		No	ExAC TOPMed gnomAD ClinGen
CA389202703 rs1451733834	56	G>S		No	gnomAD ClinGen
rs550934874 CA7132502	59	V>A		No	1000Genomes ExAC gnomAD ClinGen
rs1190136985 CA389202435	60	P>L		No	TOPMed gnomAD ClinGen
rs752516822 CA7132500	60	P>S		No	ExAC TOPMed gnomAD ClinGen
rs1424749923 CA389202389	61	V>A		No	ClinGen gnomAD
rs1566405067 CA389202348	62	V>A		No	Ensembl ClinGen
rs767390453 CA7132499	62	V>L		No	ExAC gnomAD ClinGen
rs759480397 CA7132498	63	C>G		No	ClinGen ExAC gnomAD
rs769982307 CA7132496	64	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7132495 rs761928016	65	S>*		No	ExAC TOPMed gnomAD ClinGen
CA7132494 rs528798550	67	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA389202142 rs1594609881	68	E>G		No	ClinGen Ensembl
rs566324526 CA7132493	69	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389202070 rs1194473570	69	S>R		No	ClinGen TOPMed
rs1426830642 CA389202039	70	E>G		No	ClinGen TOPMed
CA257880348 rs895288433	71	V>G		No	ClinGen TOPMed
rs747329375 CA7132492 COSM183550	72	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs200475438 CA7132491	72	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1293352448 CA389201929	73	S>R		No	ClinGen gnomAD
CA389201859 rs1383805774	75	F>L		No	ClinGen gnomAD
TCGA novel	75	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772642636 CA7132490	76	E>A		No	ExAC gnomAD ClinGen
rs2295304 CA7132488	80	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs939057492 CA257880343	80	R>Q		No	ClinGen TOPMed gnomAD
CA389201717 rs2295304	80	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs756844823 CA389201691	81	E>*		No	ExAC gnomAD ClinGen
CA7132487 rs756844823	81	E>K		No	ClinGen ExAC gnomAD
COSM1188787 CA7132486 rs2295305	82	Q>*	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA389201489 rs374022789	85	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7132484 rs374022789	85	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7132483 COSM3377382 rs755781423	85	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA257880337 rs143496691	86	L>P		No	ClinGen ESP
rs369620999 CA7132481	87	D>E		No	ClinGen ESP ExAC gnomAD
CA257880336 rs928971164	87	D>G		No	gnomAD ClinGen
rs1191336070 CA389201411	87	D>H		No	gnomAD ClinGen
rs920289946 CA257880333	89	L>P		No	ClinGen TOPMed gnomAD
CA389201319 rs754865649	90	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7132480 rs754865649	90	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7132479 rs563865768	91	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1249350073 CA389201253	92	N>D		No	gnomAD ClinGen
CA7132478 rs765209628	92	N>S		No	ExAC TOPMed gnomAD ClinGen
rs761992872 CA7132477	93	A>T		No	ClinGen ExAC gnomAD
CA7132476 rs776874707	93	A>V		No	ExAC gnomAD ClinGen
CA389201176 rs1368793500	94	Y>*		No	ClinGen gnomAD
TCGA novel	95	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	97	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276740293 CA389200994	99	T>A		No	ClinGen gnomAD
CA7132464 rs377106747	99	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1371481720 CA389200862	104	R>S		No	ClinGen TOPMed gnomAD
rs1312834072 CA389200748	109	W>*		No	ClinGen gnomAD
CA389200705 rs1433344944	111	T>I		No	gnomAD ClinGen
CA257880276 rs966668534	113	A>P		No	TOPMed gnomAD ClinGen
CA389200645 rs1172726503	115	M>T		No	ClinGen gnomAD
rs1469173317 CA389200614	116	W>*		No	ClinGen gnomAD
rs1566404686 CA389200599	116	W>C		No	Ensembl ClinGen
CA257880274 rs371634027	118	D>A		No	ClinGen gnomAD
COSM459185 rs766291638 CA7132461	118	D>N	cervix Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA257880275 rs371634027	118	D>V		No	gnomAD ClinGen
rs758282077 CA7132459	119	I>T		No	ExAC gnomAD ClinGen
CA389200551 rs1233786458	119	I>V		No	ClinGen TOPMed gnomAD
CA7132458 rs753904537	120	N>K		No	ClinGen ExAC gnomAD
CA389200501 rs764337928	122	V>F		No	ClinGen ExAC TOPMed gnomAD
rs764337928 CA7132457	122	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7132454 rs767747185	123	G>R		No	ExAC TOPMed gnomAD ClinGen
CA7132426 rs141370931	128	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs768289025 CA7132425	129	F>V		No	ClinGen ExAC gnomAD
rs746707570 CA7132424	130	C>F		No	ExAC TOPMed gnomAD ClinGen
CA7132422 rs771813534	131	S>L		No	ClinGen ExAC gnomAD
rs779886891 CA7132423	131	S>T		No	ExAC gnomAD ClinGen
CA7132421 rs201964073	134	G>A		No	1000Genomes ExAC gnomAD ClinGen
CA7132419 rs752762763	136	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7132418 rs752762763	136	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7132420 rs778956936	136	R>W		No	ClinGen ExAC gnomAD
CA7132417 rs781132175	138	M>I		No	ClinGen ExAC gnomAD
rs1594604217 CA389198750	141	A>P		No	Ensembl ClinGen
CA389198658 rs1340752294	144	G>A		No	ClinGen gnomAD
rs755221032 CA7132416	144	G>R		No	ClinGen ExAC gnomAD
CA389198642 rs1300433994	145	L>V		No	ClinGen TOPMed gnomAD
rs370901991 CA7132414	147	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370901991 CA7132413	147	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA389198597 rs1438100798	148	V>I		No	ClinGen gnomAD
CA7132412 rs750816919	151	S>F		No	ClinGen ExAC TOPMed gnomAD
rs377672951 CA7132411	154	S>I		No	ESP ExAC TOPMed gnomAD ClinGen
CA7132410 rs762312070 CA389198428	154	S>R		No	ClinGen ExAC gnomAD
CA7132409 rs776201819	155	L>M		No	ExAC ClinGen
CA389198324 rs1169068596	157	Y>*		No	ClinGen gnomAD
CA257879402 rs1041285707	157	Y>C		No	Ensembl ClinGen
rs1012258863 CA257879399	160	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA257879397 rs374420320	161	V>I		No	ESP TOPMed gnomAD ClinGen
CA7132408 rs11550018	162	P>L		No	ExAC TOPMed gnomAD ClinGen
CA7132407 rs760355791	163	Y>C		No	ExAC TOPMed gnomAD ClinGen
rs1247508751 CA389198088	164	G>A		No	gnomAD ClinGen
TCGA novel	165	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA257879389 rs781639665	166	G>D		No	Ensembl ClinGen
CA7132406 rs775048909	167	K>E		No	ExAC TOPMed gnomAD ClinGen
rs988877986 CA257879388	169	A>V		No	ClinGen TOPMed gnomAD
CA7132388 rs767225240	170	C>Y		No	ExAC TOPMed gnomAD ClinGen
CA7132387 rs144351742	175	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs144351742 CA389197450	175	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
CA7132386 rs774280858	177	C>R		No	ClinGen ExAC TOPMed gnomAD
rs770904861 CA7132385	177	C>Y		No	ExAC gnomAD ClinGen
rs773060962 CA389197253	179	H>Q		No	ExAC TOPMed gnomAD ClinGen
CA7132382 rs769800528	180	E>K		No	ExAC TOPMed gnomAD ClinGen
rs200550478 CA7132381 COSM1640061	182	R>Q	stomach [Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated
CA389197157 rs1183438440	182	R>W		No	ClinGen TOPMed gnomAD
CA7132380 rs780120437	183	R>C		No	ExAC TOPMed gnomAD ClinGen
CA389197111 rs1184068505	183	R>H		No	TOPMed gnomAD ClinGen
rs746147145 CA7132378	185	G>E		No	ClinGen ExAC gnomAD
CA7132379 rs139770664	185	G>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA389196951 rs1594603474	186	V>G		No	Ensembl ClinGen
CA7132377 rs779229320	188	C>Y		No	ExAC TOPMed gnomAD ClinGen
CA7132375 rs754264014	189	V>A		No	ExAC TOPMed gnomAD ClinGen
CA7132376 rs757661557	189	V>M		No	ExAC gnomAD ClinGen
rs1273838803 CA389196747	191	L>P		No	ClinGen gnomAD
CA7132373 rs200961410	193	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200961410 CA389196682	193	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7132374 rs76421634	193	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs767198767 CA7132370	195	I>T		No	ExAC gnomAD ClinGen
CA389196396 rs1232665091	199	E>Q		No	ClinGen TOPMed gnomAD
CA389196350 rs1391184958	200	L>R		No	ClinGen TOPMed gnomAD
rs1225387092 CA389196222	203	E>D		No	TOPMed ClinGen
rs114405592 CA7132368	203	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs745579233 CA257879306	204	H>Y		No	TOPMed ClinGen
CA389196159 rs1324613978	205	M>T		No	ClinGen TOPMed
rs766243922 CA7132367	207	K>E		No	ClinGen ExAC TOPMed gnomAD
CA389196021 rs1439502400	209	E>D		No	gnomAD ClinGen
CA7132365 rs150652682	209	E>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA7132363 rs201973286	212	Q>*		No	ClinGen ExAC gnomAD
CA257879298 rs977919795	212	Q>P		No	ClinGen TOPMed
rs1026769355 CA257879297	218	Q>E		No	gnomAD ClinGen
rs749892356 CA257879170	225	S>C		No	ClinGen Ensembl
CA7132341 rs371723270	226	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1450293214 CA389194759	227	E>D		No	TOPMed ClinGen
CA389194686 rs1329630662	231	L>F		No	gnomAD ClinGen
rs187365006 CA7132338	233	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA257879162 rs1043508571	234	K>N		No	ClinGen gnomAD
CA257879164 rs903715005	234	K>R		No	ClinGen Ensembl
CA7132337 rs749596073	235	C>R		No	ClinGen ExAC gnomAD
rs367792850 CA7132336	236	V>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA389194564 rs1371675278	237	V>A		No	ClinGen gnomAD
rs569068131 CA7132334	239	L>V		No	ExAC TOPMed gnomAD ClinGen
VAR_052318 CA7132332 rs10134537	241	T>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA7132331 rs751056286	242	D>N		No	ClinGen ExAC TOPMed gnomAD
CA389194410 rs1336693276	247	S>G		No	ClinGen TOPMed
rs1241684678 CA389194393	249	S>I		No	TOPMed ClinGen
rs1594601835 CA389194387	250	G>D		No	ClinGen Ensembl
TCGA novel	254	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7132306 rs745400245	257	D>E		No	ClinGen ExAC gnomAD
CA7132307 rs757965746	257	D>G		No	ClinGen ExAC gnomAD
CA389194298 rs757965746	257	D>V		No	ExAC gnomAD ClinGen
CA389194286 rs1230634773	258	L>F		No	ClinGen gnomAD
rs201101817 CA257879019	260	R>*		No	ClinGen TOPMed
CA7132304 rs756913740	260	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA7132303 rs559917499	261	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA7132302 rs763940229	261	R>L		No	ClinGen ExAC gnomAD
rs1433697617 CA389194228	262	Y>C		No	ClinGen gnomAD
rs1334318299 CA389194238	262	Y>H		No	ClinGen gnomAD
CA389194209 rs1386016208	263	G>A		No	gnomAD ClinGen
CA7132299 rs148282342	265	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA7132300 rs752733121	265	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA389194141 rs1161223909	268	D>H		No	gnomAD ClinGen
CA7132296 rs773189484	269	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs777525623 CA7132284	270	R>C		No	ExAC TOPMed gnomAD ClinGen
CA7132283 rs145558204	270	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs574079507 CA7132282	271	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7132280 rs754887846	272	V>I		No	ExAC TOPMed gnomAD ClinGen
CA7132279 rs750452881	273	Q>*		No	ExAC gnomAD ClinGen
rs372828362 CA257878930 COSM1369360	275	Y>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA gnomAD
rs1470536813 CA389194006	275	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1299229688 CA389193977	276	L>F		No	ClinGen TOPMed gnomAD
CA389193992 rs1339254769	276	L>M		No	TOPMed ClinGen
rs1340635753 CA389193984	276	L>S		No	gnomAD ClinGen
CA257878926 rs745599685	277	S>C		No	ExAC gnomAD ClinGen
CA7132277 rs745599685	277	S>F		No	ClinGen ExAC gnomAD
CA7132278 rs765481094	277	S>T		No	ClinGen ExAC gnomAD
CA7132276 rs754152881	279	S>N		No	ClinGen ExAC TOPMed gnomAD
rs149470750 CA7132275	280	S>Y		No	ClinGen ESP ExAC gnomAD
rs369086635 CA257878917	281	V>I		No	ESP ClinGen
CA389193931 rs1365919167	282	L>P		No	ClinGen gnomAD
rs761050614 CA7132274	283	S>P		No	ExAC gnomAD ClinGen
rs775730024 CA257878914	284	H>N		No	ExAC TOPMed gnomAD ClinGen
CA7132272 rs373524926	284	H>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs775730024 CA7132273	284	H>Y		No	ExAC TOPMed gnomAD ClinGen
rs773895645 CA7132270	285	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778570755 CA7132267	287	G>S		No	ClinGen ExAC TOPMed gnomAD
CA389193781 rs1205391159	289	G>D		No	ClinGen TOPMed
rs747920240 CA7132265	290	W>*		No	ClinGen ExAC gnomAD
rs561260562 CA7132264	291	L>P		No	ClinGen ExAC gnomAD
rs1594601244 CA389193705	292	A>G		No	Ensembl ClinGen
CA389193608 rs754939277	297	S>A		No	ExAC gnomAD ClinGen
rs754939277 CA7132263	297	S>T		No	ExAC gnomAD ClinGen
COSM955011 CA7132260 rs779104077	300	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1035765209 CA257878882	300	R>H		No	TOPMed gnomAD ClinGen
CA7132258 rs753986930	301	V>L		No	ClinGen ExAC gnomAD
CA7132259 rs753986930	301	V>M		No	ClinGen ExAC gnomAD
CA389193501 rs1220545110	302	P>L		No	gnomAD ClinGen
rs1345725568 CA389193494	303	K>R		No	gnomAD ClinGen
TCGA novel	303	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs137896489 CA257878875	304	W>*		No	ClinGen ESP
rs145199333 CA7132257	305	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1407752932 CA389193429	306	I>T		No	ClinGen TOPMed gnomAD
rs760809520 CA7132256	307	A>D		No	ClinGen ExAC TOPMed gnomAD
CA389193384 rs1178949568	308	L>F		No	TOPMed ClinGen
rs199688816 CA257878867	310	T>I		No	ClinGen Ensembl
rs767826944 CA7132254	311	S>G		No	ExAC gnomAD ClinGen
CA257878863 rs1025651307	312	K>E		No	TOPMed gnomAD ClinGen
TCGA novel CA257878861 rs775954531	312	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA gnomAD ClinGen

No associated diseases with Q96LJ7

3 regional properties for Q96LJ7

Type	Name	Position	InterPro Accession
domain	Helicase-associated domain	457 - 548	IPR007502
domain	DEAD-box helicase, OB fold	616 - 696	IPR011709
domain	Helicase superfamily 1/2, ATP-binding domain	72 - 238	IPR014001

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum	May be attached to the ER membrane by its C-terminus segment
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
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).

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+.
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.
testosterone 17-beta-dehydrogenase (NADP+) activity	Catalysis of the reaction: NADP+ + testosterone = NADPH + H+ + androst-4-ene-3,17-dione.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9BTZ2	DHRS4	Dehydrogenase/reductase SDR family member 4	Homo sapiens (Human)	PR
Q99L04	Dhrs1	Dehydrogenase/reductase SDR family member 1	Mus musculus (Mouse)	PR
Q84ST4	NOL	Chlorophyll(ide) b reductase NOL, chloroplastic	Oryza sativa subsp japonica (Rice)	PR

10	20	30	40	50	60
MAAPMNGQVC	VVTGASRGIG	RGIALQLCKA	GATVYITGRH	LDTLRVVAQE	AQSLGGQCVP
70	80	90	100	110	120
VVCDSSQESE	VRSLFEQVDR	EQQGRLDVLV	NNAYAGVQTI	LNTRNKAFWE	TPASMWDDIN
130	140	150	160	170	180
NVGLRGHYFC	SVYGARLMVP	AGQGLIVVIS	SPGSLQYMFN	VPYGVGKAAC	DKLAADCAHE
190	200	210	220	230	240
LRRHGVSCVS	LWPGIVQTEL	LKEHMAKEEV	LQDPVLKQFK	SAFSSAETTE	LSGKCVVALA
250	260	270	280	290	300
TDPNILSLSG	KVLPSCDLAR	RYGLRDVDGR	PVQDYLSLSS	VLSHVSGLGW	LASYLPSFLR
310
VPKWIIALYT	SKF