AiPD: Autoinhibited Protein Database

Q96HP4

Gene name	OXNAD1
Protein name	Oxidoreductase NAD-binding domain-containing protein 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:92106
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

12-82 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

12-82 (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 Q96HP4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96HP4-F1	Predicted				AlphaFoldDB

279 variants for Q96HP4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs777074316 CA2279246	7	M>I		No	ClinGen ExAC TOPMed gnomAD
COSM3392179 CA2279244 rs778805458	7	M>R	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2279245 rs778805458	7	M>T		No	ClinGen ExAC TOPMed gnomAD
CA2279247 rs780021376	8	I>L		No	ClinGen ExAC gnomAD
rs768207104 CA2279249	9	P>R		No	ClinGen ExAC gnomAD
rs746979088 CA2279248	9	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2279250 rs780683377	10	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2279253 rs145294222	13	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2279252 rs146704754	13	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2279254 rs763269360	14	C>S		No	ClinGen ExAC TOPMed gnomAD
CA351849332 rs771247111	15	S>C		No	ClinGen ExAC TOPMed gnomAD
CA2279255 rs771247111	15	S>F		No	ClinGen ExAC TOPMed gnomAD
rs771247111 CA351849329	15	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1257718574 CA351849346	16	V>F		No	ClinGen gnomAD
CA351849359 rs1336841544	17	G>R		No	ClinGen gnomAD
rs774905564 CA2279256	18	A>T		No	ClinGen ExAC gnomAD
CA70698825 rs767997499	20	R>H		No	ClinGen TOPMed
rs767997499 CA351849454	20	R>L		No	ClinGen TOPMed
CA70698831 rs979893716	21	I>S		No	ClinGen TOPMed
rs767579105 CA2279258	22	E>K		No	ClinGen ExAC gnomAD
rs752850815 CA2279259	22	E>V		No	ClinGen ExAC gnomAD
CA2279260 rs200469248	24	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1379933379 CA351849571	25	S>T		No	ClinGen TOPMed gnomAD
rs1559720728 CA351849600	26	L>V		No	ClinGen Ensembl
rs754162923 CA2279263	29	T>S		No	ClinGen ExAC gnomAD
CA2279265 rs779781080	31	S>G		No	ClinGen ExAC gnomAD
CA2279266 rs574928949	32	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs574928949 CA70698890	32	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs140887403 CA2279267	33	L>S		No	ClinGen ESP ExAC TOPMed
rs780630420 CA351849782	34	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1219030 rs747683702 CA2279269	34	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC
CA2279268 rs780630420	34	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1405372562 CA351849829	36	L>F		No	ClinGen TOPMed gnomAD
CA2279271 rs777378904	36	L>H		No	ClinGen ExAC gnomAD
TCGA novel	37	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351849855 rs1305752596	38	L>V		No	ClinGen gnomAD
rs1226052081 CA351849882	39	T>I		No	ClinGen TOPMed gnomAD
rs1226052081 CA351849876	39	T>N		No	ClinGen TOPMed gnomAD
rs748947839 CA2279272	40	S>R		No	ClinGen ExAC gnomAD
CA2279285 rs767406725	41	I>L		No	ClinGen ExAC TOPMed gnomAD
CA2279287 rs755605367	42	M>V		No	ClinGen ExAC TOPMed gnomAD
rs777329466 CA2279288	45	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2279289 rs748915909	47	K>*		No	ClinGen ExAC gnomAD
rs1451382118 CA351850203	47	K>R		No	ClinGen gnomAD
CA351850202 rs1451382118	47	K>T		No	ClinGen gnomAD
rs372120641 CA2279290	49	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559722075 CA351850214	49	D>Y		No	ClinGen Ensembl
rs1196479235 CA351850222	50	H>P		No	ClinGen TOPMed
rs201824469 CA2279291	51	M>V		No	ClinGen ExAC gnomAD
CA2279292 rs375408019	53	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1343164947 CA351850313	56	S>R		No	ClinGen gnomAD
rs772614182 CA2279293	56	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2279294 rs776127512	58	L>F		No	ClinGen ExAC gnomAD
rs747587030 CA2279295	59	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747587030 CA351850344	59	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2279296 VAR_034855 rs17042066	59	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2279298 rs147468390	60	R>Q		No	ClinGen ESP ExAC gnomAD
COSM1420355 CA2279297 rs369133759	60	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM110490 CA2279299 rs145604932	61	E>G	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs199806047 CA2279325	62	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs842274 VAR_034856 CA2279326	64	S>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2279327 rs749977984	67	K>R		No	ClinGen ExAC gnomAD
CA351840145 rs1358009165	69	C>Y		No	ClinGen gnomAD
CA351840164 rs1213505593	70	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs780516068 CA2279329	71	A>G		No	ClinGen ExAC gnomAD
CA2279328 rs758138774	71	A>P		No	ClinGen ExAC
CA351840173 rs780516068	71	A>V		No	ClinGen ExAC gnomAD
CA70668033 rs958598052	73	S>G		No	ClinGen TOPMed gnomAD
CA2279330 rs534773677	73	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs558057290 CA2279331	74	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2279333 rs781525309	76	P>L		No	ClinGen ExAC TOPMed gnomAD
rs111522992 CA2279335	79	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1428577974 CA351840281	80	S>N		No	ClinGen TOPMed
rs6777976 CA2279337 VAR_034857	82	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351840298 rs6777976	82	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1040705 CA2279338 rs144894482	82	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1172382709 CA351840323	84	L>V		No	ClinGen TOPMed
CA351840355 rs373342829	87	D>H		No	ClinGen ESP ExAC gnomAD
rs373342829 CA2279341	87	D>Y		No	ClinGen ESP ExAC gnomAD
CA2279344 rs761815366	89	D>E		No	ClinGen ExAC gnomAD
CA2279343 rs776428887	89	D>N		No	ClinGen ExAC gnomAD
TCGA novel	91	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA70668184 rs143194451	91	S>T		No	ClinGen ESP
rs1186406194 CA351840420	92	F>V		No	ClinGen TOPMed
CA70668186 rs879240096	93	K>E		No	ClinGen Ensembl
rs1210530181 CA351840451	94	A>V		No	ClinGen TOPMed gnomAD
rs764596400 CA2279346	95	G>V		No	ClinGen ExAC gnomAD
CA351841255 rs768270963	97	W>*		No	ClinGen ExAC TOPMed gnomAD
CA2279361 rs768270963	97	W>C		No	ClinGen ExAC TOPMed gnomAD
CA351841262 rs141416035	98	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2279362 rs141416035	98	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs769800416 CA2279364	103	P>A		No	ClinGen ExAC gnomAD
rs190493828 CA2279365	103	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs954260227 CA70674359	106	S>P		No	ClinGen TOPMed gnomAD
CA351841486 rs1461437117	107	V>L		No	ClinGen TOPMed
CA351841536 rs1404460199	109	G>C		No	ClinGen gnomAD
CA2279369 rs774139293	110	G>R		No	ClinGen ExAC gnomAD
rs1575124464 CA351841589	111	F>V		No	ClinGen Ensembl
rs759228021 CA2279370	113	I>M		No	ClinGen ExAC gnomAD
rs985740329 CA70674389	113	I>V		No	ClinGen gnomAD
rs767714469 CA2279371	116	S>T		No	ClinGen ExAC gnomAD
CA2279372 rs753138141	117	P>S		No	ClinGen ExAC gnomAD
CA2279373 rs756478364	123	E>K		No	ClinGen ExAC gnomAD
rs764566338 CA2279374	124	R>S		No	ClinGen ExAC gnomAD
rs1203952944 CA351841926	125	V>A		No	ClinGen TOPMed gnomAD
rs1341671429 CA351841940	126	I>T		No	ClinGen TOPMed gnomAD
CA351841931 rs1489493738	126	I>V		No	ClinGen TOPMed
CA2279376 rs754404718	131	K>N		No	ClinGen ExAC TOPMed gnomAD
CA2279377 rs773324152	132	Y>*		No	ClinGen ExAC
rs757324207 CA2279378	133	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2279379 rs778969448	133	T>M		No	ClinGen ExAC gnomAD
CA2279380 rs746033921	136	P>S		No	ClinGen ExAC gnomAD
rs1379402717 CA351842164	137	P>L		No	ClinGen gnomAD
CA351842156 rs1306522581	137	P>S		No	ClinGen TOPMed
TCGA novel	138	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351842185 rs1292941804	139	L>F		No	ClinGen TOPMed
CA351842188 rs1371462277	139	L>H		No	ClinGen gnomAD
CA351842183 rs1292941804	139	L>V		No	ClinGen TOPMed
rs112970878 CA70674482	141	V>A		No	ClinGen Ensembl
CA351842219 rs1300985221	141	V>I		No	ClinGen gnomAD
CA2279383 rs139847566	144	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	145	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745362226 CA2279409	146	T>A		No	ClinGen ExAC gnomAD
CA2279410 rs374656917	146	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA70679773 rs866940122	147	L>P		No	ClinGen Ensembl
rs1559767583 CA541678208	149	C>*		No	ClinGen Ensembl
CA2279412 rs368139471	149	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768954932 CA2279413	149	C>Y		No	ClinGen ExAC gnomAD
CA351843426 rs1248674206	150	E>K		No	ClinGen gnomAD
CA2279414 rs777004919	153	V>G		No	ClinGen ExAC gnomAD
rs143494077 CA2279415	154	R>G		No	ClinGen ExAC gnomAD
CA351843531 rs1559767696	155	V>G		No	ClinGen Ensembl
rs765700255 CA2279416	156	G>S		No	ClinGen ExAC gnomAD
CA2279417 rs201772633	157	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA351843571 rs1575148637	158	E>G		No	ClinGen Ensembl
rs1390159575 CA351843614	159	F>L		No	ClinGen gnomAD
rs1456594626 CA351843588	159	F>V		No	ClinGen gnomAD
CA351843609 rs1159857217	159	F>Y		No	ClinGen gnomAD
rs1445234805 CA351843644	161	F>C		No	ClinGen gnomAD
CA2279420 rs766431675	161	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2279422 rs751738131	162	D>E		No	ClinGen ExAC gnomAD
rs1397418643 CA351843675	163	P>L		No	ClinGen gnomAD
rs1422341908 CA351843667	163	P>S		No	ClinGen TOPMed
rs1315201522 CA351843681	164	Q>*		No	ClinGen TOPMed gnomAD
rs1315201522 CA351843677	164	Q>K		No	ClinGen TOPMed gnomAD
CA2279423 rs563278760	164	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
CA70679880 rs1007066544	165	P>A		No	ClinGen gnomAD
CA2279424 rs191814958	166	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2279427 rs371709808	167	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs778897160 CA2279426	167	D>N		No	ClinGen ExAC TOPMed gnomAD
CA351843711 rs371709808	167	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs771544093 CA2279428	168	A>T		No	ClinGen ExAC gnomAD
TCGA novel	170	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183830774 CA351843751	172	L>F		No	ClinGen gnomAD
CA2279430 CA351843755 rs376613094	173	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2279429 rs376613094	173	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2279431 rs548933096	175	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351843776 rs1559768131	176	A>E		No	ClinGen Ensembl
rs1010109158 CA70679975	176	A>S		No	ClinGen TOPMed
CA2279433 rs559483850	178	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147050696 CA2279436	180	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2279435 rs551285167	180	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147050696 CA351843797	180	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA351843814 rs1305836388	183	P>T		No	ClinGen gnomAD
rs1348987069 CA351843826	185	L>F		No	ClinGen gnomAD
CA2279437 rs763370168	186	S>Y		No	ClinGen ExAC gnomAD
CA351843836 rs1289513102	187	I>V		No	ClinGen gnomAD
rs571163653 CA2279439	188	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs539458658 CA2279441 COSM1040711	189	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM313838 rs759790539 CA2279440	189	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs368424680 CA70680011	190	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs757114562 CA2279444	191	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2279443 rs757114562	191	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2279445 rs750320506	192	A>P		No	ClinGen ExAC gnomAD
CA70680020 rs750320506	192	A>S		No	ClinGen ExAC gnomAD
rs779579619 CA2279447	193	D>A		No	ClinGen ExAC gnomAD
rs1253709077 CA351843866	193	D>N		No	ClinGen TOPMed gnomAD
rs1253709077 CA351843864	193	D>Y		No	ClinGen TOPMed gnomAD
CA2279451 rs570100479	196	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA70680043 rs377312886	198	Q>E		No	ClinGen ESP TOPMed gnomAD
rs747860702 CA2279452	200	N>H		No	ClinGen ExAC TOPMed gnomAD
CA2279453 rs770125512	201	K>*		No	ClinGen ExAC TOPMed gnomAD
CA70680066 rs770125512	201	K>E		No	ClinGen ExAC TOPMed gnomAD
CA2279454 rs773461956	201	K>R		No	ClinGen ExAC gnomAD
CA70680105 rs985056515	202	R>G		No	ClinGen TOPMed gnomAD
CA2279455 rs749752716	203	N>D		No	ClinGen ExAC gnomAD
rs1196756389 CA351843945	205	Y>C		No	ClinGen TOPMed
TCGA novel	207	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771371789 CA2279456	207	I>M		No	ClinGen ExAC gnomAD
rs1368369308 CA351843963	207	I>R		No	ClinGen gnomAD
CA351843971 rs1314089048	209	T>A		No	ClinGen TOPMed
CA351843974 rs774960703	209	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2279457 rs774960703	209	T>K		No	ClinGen ExAC TOPMed gnomAD
rs759677271 CA351843975	210	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1229425990 CA351843979	210	I>M		No	ClinGen gnomAD
CA70680142 rs937139532	210	I>R		No	ClinGen Ensembl
rs759677271 CA2279458	210	I>V		No	ClinGen ExAC TOPMed gnomAD
CA70680154 rs149571081	212	L>V		No	ClinGen ESP TOPMed gnomAD
rs767774767 CA2279459	213	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1267124832 CA351844003	214	Y>*		No	ClinGen gnomAD
rs373226126 CA2279461	214	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373728176 CA2279460	214	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	218	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2279463 rs750220522	220	S>T		No	ClinGen ExAC TOPMed
CA2279465 rs376034689	221	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA351844048 rs1389018393 COSM276574	221	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs374675097 CA351844425	228	I>N		No	ClinGen ESP TOPMed gnomAD
rs374675097 CA70680870	228	I>T		No	ClinGen ESP TOPMed gnomAD
CA2279483 rs766260986	228	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2279485 rs751428359	229	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2279484 rs751428359	229	L>R		No	ClinGen ExAC TOPMed gnomAD
CA351844470 rs1275898784	232	V>A		No	ClinGen gnomAD
rs367677916 CA351844464	232	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs367677916 CA2279486	232	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2279488 rs778402692	234	E>IY*		No	ClinGen ExAC gnomAD
CA2279489 rs752235049	235	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2279491 rs146366851	236	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs755687903 CA2279490	236	P>S		No	ClinGen ExAC
CA2279492 rs753594791	237	E>D		No	ClinGen ExAC gnomAD
CA351844524 rs1415079203	237	E>K		No	ClinGen TOPMed
CA2279493 rs757498841	238	K>N		No	ClinGen ExAC TOPMed gnomAD
rs144054197 CA2279494	239	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1479053900 CA351844554	239	I>V		No	ClinGen TOPMed
CA2279495 rs746329649	240	A>V		No	ClinGen ExAC gnomAD
rs772740883 CA2279496	242	S>N		No	ClinGen ExAC gnomAD
CA2279498 rs747040523	246	T>I		No	ClinGen ExAC gnomAD
CA351844648 rs1377018442	247	K>E		No	ClinGen gnomAD
rs911261049 CA70680969	250	T>A		No	ClinGen Ensembl
CA2279500 rs768841107	250	T>I		No	ClinGen ExAC gnomAD
rs768841107 CA2279499	250	T>R		No	ClinGen ExAC gnomAD
rs762096754 CA2279501	251	Q>E		No	ClinGen ExAC gnomAD
rs770650085 CA2279502	253	N>D		No	ClinGen ExAC gnomAD
CA2279503 rs148739171	253	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1200641449 CA351844691	254	A>T		No	ClinGen gnomAD
rs145460543 CA2279505	254	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2279507 rs760089015	255	E>A		No	ClinGen ExAC gnomAD
CA2279509 rs763666289	260	I>M		No	ClinGen ExAC gnomAD
rs200884599 CA2279510	261	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1371996555 CA351844757	262	E>G		No	ClinGen TOPMed
CA351844742 rs1184631492	262	E>K		No	ClinGen TOPMed gnomAD
CA351844769 rs1559771776	264	R>G		No	ClinGen Ensembl
TCGA novel	266	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145275971 CA2279529	266	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs750160471 CA2279531	268	K>*		No	ClinGen ExAC gnomAD
rs750160471 CA351844797	268	K>E		No	ClinGen ExAC gnomAD
rs1402598742 CA351844818	271	R>G		No	ClinGen TOPMed
rs1161375731 CA351844829	272	D>G		No	ClinGen gnomAD
rs758832919 CA2279532	273	H>R		No	ClinGen ExAC gnomAD
CA351844857 rs1387285012	276	K>R		No	ClinGen TOPMed gnomAD
CA70681710 rs375573450	279	L>F		No	ClinGen ESP TOPMed
CA2279534 rs751950071	281	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs201533216 CA2279535	282	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs199530349 CA351844899	282	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2279536 rs199530349	282	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748227278 CA2279538	285	P>L		No	ClinGen ExAC gnomAD
rs915644904 CA70681726	285	P>S		No	ClinGen Ensembl
rs1254920781 CA351844923	286	P>L		No	ClinGen gnomAD
CA351844932 rs1463628804	288	M>V		No	ClinGen TOPMed gnomAD
rs1194748040 CA351844945	289	T>I		No	ClinGen TOPMed
rs1480552900 CA351844951	290	D>V		No	ClinGen TOPMed
CA351844983 rs750559466	293	S>C		No	ClinGen TOPMed
rs750559466 CA70681730	293	S>F		No	ClinGen TOPMed
CA2279539 rs756235520	293	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1162354895 CA351845026	296	L>M		No	ClinGen gnomAD
CA2279541 rs749577281	300	H>R		No	ClinGen ExAC TOPMed gnomAD
rs201805731 CA2279540	300	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351845119 rs1385769259	302	P>A		No	ClinGen gnomAD
rs771798524 CA2279542	303	K>R		No	ClinGen ExAC gnomAD
TCGA novel	304	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1320796736 CA351845182	305	H>R		No	ClinGen gnomAD
CA351845190 rs1575156383	306	I>V		No	ClinGen Ensembl
rs1363549840 CA351845213	307	C>S		No	ClinGen TOPMed gnomAD
rs1363549840 CA351845210	307	C>Y		No	ClinGen TOPMed gnomAD
rs949810953 CA70681769	308	F>C		No	ClinGen Ensembl
CA351845234 rs1310965953	308	F>L		No	ClinGen gnomAD
CA2279545 rs775378073	310	K>N		No	ClinGen ExAC
rs1559772382 CA351845263	310	K>R		No	ClinGen Ensembl
CA351845295 rs1340280923	313	W>S		No	ClinGen TOPMed gnomAD
CA351845293 rs1340280923	313	W>W		No	ClinGen TOPMed gnomAD

No associated diseases with Q96HP4

No regional properties for Q96HP4

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96HP4

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

1 GO annotations of molecular function

Name	Definition
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.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3MHW9	CYB5R1	NADH-cytochrome b5 reductase 1	Bos taurus (Bovine)	PR
Q9UHQ9	CYB5R1	NADH-cytochrome b5 reductase 1	Homo sapiens (Human)	PR
Q9DB73	Cyb5r1	NADH-cytochrome b5 reductase 1	Mus musculus (Mouse)	PR
Q5EB81	Cyb5r1	NADH-cytochrome b5 reductase 1	Rattus norvegicus (Rat)	PR
Q9ZNT1	CBR1	NADH--cytochrome b5 reductase 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MACAAVMIPG	LLRCSVGAIR	IEAASLRLTL	STLRHLTLTS	IMKSKRKTDH	MERTASVLRR
70	80	90	100	110	120
EIVSAAKVCG	AASESPSVKS	LRLLVADQDF	SFKAGQWVDF	FIPGVSVVGG	FSICSSPRLL
130	140	150	160	170	180
EQERVIELAV	KYTNHPPALW	VHNTCTLDCE	VAVRVGGEFF	FDPQPADASR	NLVLIAGGVG
190	200	210	220	230	240
INPLLSILRH	AADLLREQAN	KRNGYEIGTI	KLFYSAKNTS	ELLFKKNILD	LVNEFPEKIA
250	260	270	280	290	300
CSLHVTKQTT	QINAELKPYI	TEGRITEKEI	RDHISKETLF	YICGPPPMTD	FFSKQLENNH
310
VPKEHICFEK	WW