AiPD: Autoinhibited Protein Database

Q9UHQ9

Gene name	CYB5R1 (NQO3A2, UNQ3049/PRO9865)
Protein name	NADH-cytochrome b5 reductase 1
Names	b5R.1, Humb5R2, NAD(P)H:quinone oxidoreductase type 3 polypeptide A2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51706
EC number	1.6.2.2: With a heme protein as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-51 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-51 (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 Q9UHQ9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UHQ9-F1	Predicted				AlphaFoldDB

255 variants for Q9UHQ9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs567416582	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA1336454 rs577918422	2	G>E		No	ClinGen ExAC gnomAD
CA344270387 rs1407000932	2	G>R		No	ClinGen TOPMed gnomAD
rs199856907	5	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA344270362 rs1198052018	5	T>M		No	ClinGen gnomAD
CA35604480 rs143624135	7	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs143624135 CA1336425	7	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA344269930 rs143624135	7	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA344269915 rs1178704726	8	V>I		No	ClinGen gnomAD
rs1422833463 CA344269874	10	L>P		No	ClinGen TOPMed
rs772142739 CA1336423	11	A>T		No	ClinGen ExAC gnomAD
rs1187388517 CA344269855	11	A>V		No	ClinGen gnomAD
rs1476481198 CA344269850	12	S>T		No	ClinGen gnomAD
rs150371345 CA35604449	14	G>E		No	ClinGen ESP TOPMed
rs1048173748 CA35604454	14	G>R		No	ClinGen gnomAD
CA1336420 rs368399512 CA344269794	15	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1336419 rs745797180	17	L>V		No	ClinGen ExAC TOPMed gnomAD
rs374186167 CA1336417	20	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1336416 rs751266252	21	L>V		No	ClinGen ExAC
CA1336413 rs752306002	22	G>S		No	ClinGen ExAC TOPMed gnomAD
CA1336411 rs760073274	24	A>V		No	ClinGen ExAC gnomAD
CA35604405 rs112798167	27	S>P		No	ClinGen Ensembl
CA1336410 rs766821819	31	R>G		No	ClinGen ExAC gnomAD
rs773382094 CA1336408	31	R>L		No	ClinGen ExAC gnomAD
rs773382094 CA1336407	31	R>Q		No	ClinGen ExAC gnomAD
CA1336409 rs766821819	31	R>W		No	ClinGen ExAC gnomAD
rs1171146638 CA344269403	32	R>S		No	ClinGen TOPMed gnomAD
rs565157209 CA1336405	34	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs565157209 CA1336406	34	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs565157209 CA1336404	34	R>P		No	ClinGen 1000Genomes ExAC gnomAD
CA344269307 rs1221261424	37	Q>H		No	ClinGen TOPMed
CA1336403 rs768827574	38	V>I		No	ClinGen ExAC gnomAD
CA344269235 rs776735324	41	L>P		No	ClinGen ExAC TOPMed gnomAD
CA1336401 rs776735324	41	L>R		No	ClinGen ExAC TOPMed gnomAD
CA1336402 rs745850686	41	L>V		No	ClinGen ExAC gnomAD
TCGA novel	42	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770954057 CA1336400	42	D>N		No	ClinGen ExAC gnomAD
CA1336398 rs777377199	44	N>D		No	ClinGen ExAC gnomAD
CA344269168 rs2232842	44	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1336397 rs2232842 VAR_032320	44	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1332561845 CA344269156	45	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1306734634 CA344269046	50	R>*		No	ClinGen gnomAD
CA35604383 rs140808820	53	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1336395 rs140808820	53	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1558021287 CA344268994	53	D>V		No	ClinGen Ensembl
rs754502921 CA1336394	54	K>*		No	ClinGen ExAC gnomAD
CA1336393 rs199636712	55	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1322639046 CA344268828	56	T>N		No	ClinGen gnomAD
CA35604248 rs914399807	60	N>T		No	ClinGen gnomAD
rs772003868 CA1336360	62	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	62	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1336359 rs761515427	64	F>L		No	ClinGen ExAC TOPMed gnomAD
CA344268750 rs1203361460	64	F>L		No	ClinGen TOPMed
CA1336358 rs145377151	65	R>C		No	ClinGen ESP ExAC gnomAD
rs768353653 COSM287771 CA1336357	65	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs748934805 CA1336356	67	A>V		No	ClinGen ExAC gnomAD
rs201406467 CA1336354	70	T>I		No	ClinGen ExAC TOPMed gnomAD
CA344268664 rs1571578198	70	T>P		No	ClinGen Ensembl
TCGA novel	71	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1035790041 CA35604222	72	H>R		No	ClinGen TOPMed gnomAD
rs1263583758 CA344268627	72	H>Y		No	ClinGen TOPMed gnomAD
rs1263730854 CA344268560	75	L>P		No	ClinGen gnomAD
CA344268549 rs1283577921	76	G>W		No	ClinGen gnomAD
rs751988334 CA1336350	78	P>L		No	ClinGen ExAC gnomAD
CA344268445 rs1221601469	82	H>R		No	ClinGen TOPMed
rs145311829 CA1336327	83	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA344268425 rs1351098704	84	Y>C		No	ClinGen TOPMed
rs755168273 CA1336326	84	Y>H		No	ClinGen ExAC gnomAD
CA344268422 rs1351098704	84	Y>S		No	ClinGen TOPMed
rs1420633275 CA344268414	85	L>F		No	ClinGen gnomAD
CA344268411 rs1339755559	85	L>P		No	ClinGen Ensembl
CA344268391 rs1300979237	87	T>I		No	ClinGen TOPMed gnomAD
rs1300979237 CA344268392	87	T>S		No	ClinGen TOPMed gnomAD
CA1336321 rs763971220	88	R>*		No	ClinGen ExAC TOPMed gnomAD
rs763971220 CA1336322	88	R>G		No	ClinGen ExAC TOPMed gnomAD
rs762768895 CA1336320	88	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775290379 CA1336319	89	I>T		No	ClinGen ExAC gnomAD
CA1336318 rs764812894	90	D>Y		No	ClinGen ExAC gnomAD
CA1336317 rs759215954	92	S>N		No	ClinGen ExAC gnomAD
rs1438535579 CA344268344	92	S>R		No	ClinGen gnomAD
TCGA novel	94	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344268319 rs1220560407	95	I>T		No	ClinGen gnomAD
rs1481742605 CA344268305	96	R>S		No	ClinGen TOPMed
rs374657893 CA35603965	98	Y>H		No	ClinGen ESP
rs1025458641 CA35603962	101	V>F		No	ClinGen TOPMed gnomAD
CA344268262 rs1025458641	101	V>L		No	ClinGen TOPMed gnomAD
rs776075632 CA1336315	102	T>S		No	ClinGen ExAC gnomAD
TCGA novel	106	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344268199 rs1279527196	106	D>V		No	ClinGen gnomAD
rs1571577888 CA344268165	108	G>D		No	ClinGen Ensembl
CA1336312 COSM209506 rs371177663	109	Y>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1336311 rs368750839	111	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA35603935 rs865821861	115	K>N		No	ClinGen Ensembl
TCGA novel	116	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1336292 rs772761478	116	V>A		No	ClinGen ExAC TOPMed gnomAD
CA1336291 rs748682995	117	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1425952700 CA344267854	118	L>P		No	ClinGen gnomAD
rs1193200007 CA344267775	121	V>A		No	ClinGen gnomAD
rs1319015575 CA344267762	122	H>Y		No	ClinGen TOPMed
CA1336287 rs780286898	123	P>S		No	ClinGen ExAC gnomAD
CA1336286 rs769938125	124	K>Q		No	ClinGen ExAC gnomAD
CA1336284 rs781223669	124	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1336285 rs781223669	124	K>T		No	ClinGen ExAC TOPMed gnomAD
CA1336283 rs758368982	125	F>L		No	ClinGen ExAC
CA35603716 rs972504280 COSM678098	127	E>Q	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs201820857 CA1336282	128	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs778626674 CA1336281	129	G>R		No	ClinGen ExAC TOPMed gnomAD
rs753540107 CA1336279	133	Q>P		No	ClinGen ExAC gnomAD
CA344267567 rs1244838336	136	D>N		No	ClinGen TOPMed
rs1380261571 CA344267543	139	K>R		No	ClinGen gnomAD
CA344267534 rs1177626579	140	V>A		No	ClinGen TOPMed
rs1336075168 CA344267530	141	G>E		No	ClinGen gnomAD
CA344267525 rs1409881003	142	D>Y		No	ClinGen TOPMed
rs1416980337 CA344267516	143	V>A		No	ClinGen TOPMed
CA1336275 rs767132971	143	V>L		No	ClinGen ExAC gnomAD
CA1336274 rs376157428	144	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs562894187 CA1336273	145	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA344267494 rs768976568	147	R>G		No	ClinGen ExAC TOPMed gnomAD
rs775782124 CA1336271	147	R>P		No	ClinGen ExAC gnomAD
rs775782124 CA1336270	147	R>Q		No	ClinGen ExAC gnomAD
rs768976568 CA1336272	147	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	149	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344267483 rs1226513618	149	P>T		No	ClinGen gnomAD
CA344267462 rs367774238	150	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1336267 rs781312449 COSM1337938	151	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs771025199 CA1336266	153	L>P		No	ClinGen ExAC gnomAD
CA344267429 rs1450534371	154	T>P		No	ClinGen gnomAD
rs1273317219 CA344267416	155	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1336264 rs746997961	155	Y>H		No	ClinGen ExAC gnomAD
rs1022456347 CA35603670	156	T>P		No	ClinGen TOPMed gnomAD
CA344288981 rs1157626944	159	G>E		No	ClinGen gnomAD
TCGA novel	159	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1336244 rs773146577	160	H>N		No	ClinGen ExAC gnomAD
rs749234913 CA1336243	163	I>F		No	ClinGen ExAC TOPMed gnomAD
CA1336242 rs749234913	163	I>V		No	ClinGen ExAC TOPMed gnomAD
CA35614855 rs890562299	165	P>H		No	ClinGen Ensembl
TCGA novel	169	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755987503 CA1336240	170	P>T		No	ClinGen ExAC TOPMed gnomAD
rs745591123 CA1336239	172	E>A		No	ClinGen ExAC TOPMed gnomAD
CA1336238 rs147266184	173	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1336236 rs2232845	174	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1336234 rs759006994	174	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1336233 rs759006994	174	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs955709437 CA35614824	176	A>V		No	ClinGen TOPMed gnomAD
rs763793000 CA1336230	177	K>E		No	ClinGen ExAC gnomAD
CA1336228 rs145576787	177	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344288678 rs1221004899	180	G>E		No	ClinGen TOPMed
rs766675838 CA1336227	181	M>I		No	ClinGen ExAC TOPMed gnomAD
CA1336225 rs773411079	182	I>M		No	ClinGen ExAC TOPMed gnomAD
rs371120169 CA1336226	182	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1558020493 CA528160163	184	G>*		No	ClinGen Ensembl
rs368682605 CA35614788	184	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs368682605 CA1336222	184	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1427974591 CA344288607	184	G>V		No	ClinGen gnomAD
CA1336219 rs137902078	185	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1336220 rs137902078	185	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA344288450 rs776553458	187	G>A		No	ClinGen ExAC TOPMed gnomAD
CA344288452 rs776553458	187	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1489268558 CA344288572	187	G>R		No	ClinGen TOPMed
rs776553458 CA1336197	187	G>V		No	ClinGen ExAC TOPMed gnomAD
CA344288429 rs1335419514	189	T>A		No	ClinGen gnomAD
rs1377027971 CA344288422	189	T>I		No	ClinGen TOPMed
rs770615752 CA1336196	190	P>S		No	ClinGen ExAC gnomAD
rs1393692357 CA344288403	191	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs145260503 CA1336195	193	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA1336193 rs755233575	196	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM70365 CA1336194 rs777291289	196	R>W	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1443959517 CA344288317	197	A>D		No	ClinGen gnomAD
rs11544742 CA344288291	199	L>R		No	ClinGen gnomAD
rs778366503 CA1336191	200	K>E		No	ClinGen ExAC gnomAD
rs1204708530 CA344288177	206	T>I		No	ClinGen TOPMed gnomAD
rs1204708530 CA344288179	206	T>N		No	ClinGen TOPMed gnomAD
CA35614466 rs780554060	207	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs552651151 CA344288164	207	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1336189 rs552651151	207	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344288117 rs1285367110	210	L>V		No	ClinGen gnomAD
rs1169569470 CA344288066	213	A>G		No	ClinGen gnomAD
CA344288051 rs1287089862	214	N>S		No	ClinGen TOPMed gnomAD
rs1287089862 CA344288052	214	N>T		No	ClinGen TOPMed gnomAD
CA35614455 rs1032743189	215	Q>E		No	ClinGen Ensembl
rs1281056049 CA344287954	217	E>V		No	ClinGen gnomAD
CA1336172 rs748766650	219	D>G		No	ClinGen ExAC gnomAD
rs1331477130 CA344287878	220	I>N		No	ClinGen gnomAD
CA1336170 rs780457584	221	I>F		No	ClinGen ExAC TOPMed
rs756594390 CA344287832	221	I>M		No	ClinGen ExAC TOPMed gnomAD
CA344287861 rs780457584	221	I>V		No	ClinGen ExAC TOPMed
CA1336165 rs757619233	223	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs148221696 CA1336167	223	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs148992048 CA1336164	224	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs764352174 CA1336163	226	L>*		No	ClinGen ExAC gnomAD
rs1035964624 CA35614254	226	L>V		No	ClinGen TOPMed
CA1336162 COSM1134799 rs559078788	227	E>K	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA344287709 rs1299389512	228	E>K		No	ClinGen TOPMed gnomAD
CA1336161 rs369275806	232	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1336160 rs766280193	232	R>H		No	ClinGen ExAC TOPMed gnomAD
CA344287588 rs948368845	234	P>A		No	ClinGen TOPMed gnomAD
CA344287586 rs948368845	234	P>S		No	ClinGen TOPMed gnomAD
CA35614244 rs948368845	234	P>T		No	ClinGen TOPMed gnomAD
CA344287574 rs1247995967	235	N>D		No	ClinGen gnomAD
rs760633859 COSM174473 CA1336159	236	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs773061564 COSM902412 CA1336158	236	R>H	endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1336157 rs767290000	237	F>L		No	ClinGen ExAC gnomAD
TCGA novel	238	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344287528 rs1558020072	238	K>R		No	ClinGen Ensembl
CA1336156 rs761540645	239	L>F		No	ClinGen ExAC gnomAD
CA344287495 rs1295631237	239	L>P		No	ClinGen TOPMed
rs368686887 CA1336155	240	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368686887 CA1336154	240	W>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344287490 rs1276226978	240	W>R		No	ClinGen gnomAD
rs895431831 CA35614236	244	D>A		No	ClinGen TOPMed gnomAD
CA1336153 rs144951127	244	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs201222473 CA1336151	246	P>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs201222473 CA1336152	246	P>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA35614231 rs1033820926	247	P>L		No	ClinGen Ensembl
TCGA novel	249	D>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA35614063 rs962903352	250	W>*		No	ClinGen Ensembl
rs770198268 CA35614067	250	W>R		No	ClinGen Ensembl
rs768714535 CA1336107	251	A>V		No	ClinGen ExAC gnomAD
rs1376828464 CA344286714	254	K>E		No	ClinGen TOPMed gnomAD
CA1336100 rs752391510	260	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1336101 rs752391510	260	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA344286644 rs1246184974	263	R>Q		No	ClinGen TOPMed gnomAD
CA1336099 rs764960509	263	R>W		No	ClinGen ExAC gnomAD
CA1336095 rs773777113 CA1336094	265	H>Q		No	ClinGen ExAC gnomAD
rs765978281 CA1336096	265	H>R		No	ClinGen ExAC gnomAD
rs200700150 CA1336097	265	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA1336092 rs781467504	268	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1220220528 CA344286596	268	A>V		No	ClinGen gnomAD
CA1336090 rs768907769	269	P>S		No	ClinGen ExAC TOPMed gnomAD
CA344286578 rs749505973	271	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1336089 rs749505973	271	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA344286563 rs1359599778	272	D>A		No	ClinGen gnomAD
rs769875330 CA1336088	272	D>N		No	ClinGen ExAC TOPMed gnomAD
rs769875330 CA1336087	272	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA35613981 rs558186954	277	L>P		No	ClinGen Ensembl
rs906320379 CA35613967	279	G>A		No	ClinGen TOPMed
CA1336082 rs142160530	279	G>R		No	ClinGen ESP ExAC gnomAD
CA344286479 rs1187855808	280	P>L		No	ClinGen gnomAD
rs1465257097 CA344286472	281	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1465257097 CA344286477	281	P>T		No	ClinGen gnomAD
CA1336080 rs200152783	283	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1159140629 CA344286412	284	V>A		No	ClinGen gnomAD
CA1336079 rs753561339	284	V>M		No	ClinGen ExAC TOPMed gnomAD
rs766067115 CA1336078	287	A>V		No	ClinGen ExAC gnomAD
CA1336076 rs377582114	291	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA35613941 rs1038934709	291	N>S		No	ClinGen TOPMed
CA1336075 rs768119285	292	L>F		No	ClinGen ExAC gnomAD
CA344286333 rs1558019808	292	L>S		No	ClinGen Ensembl
CA1336074 rs762197755	296	G>C		No	ClinGen ExAC gnomAD
rs1291033358 CA344286270	297	Y>C		No	ClinGen TOPMed
CA35613923 rs202017107	300	K>N		No	ClinGen Ensembl
CA344286193 rs1366620694	301	M>I		No	ClinGen gnomAD
rs774846428 CA35613918	302	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1336072 rs375559693	302	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1336070 rs775692680	303	F>L		No	ClinGen ExAC gnomAD

No associated diseases with Q9UHQ9

1 regional properties for Q9UHQ9

Type	Name	Position	InterPro Accession
domain	CCZ1/INTU/HSP4, first Longin domain	4 - 113	IPR043987

Functions

		Description
EC Number	1.6.2.2	With a heme protein as acceptor
Subcellular Localization	Membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
platelet alpha granule membrane	The lipid bilayer surrounding the platelet alpha granule.

2 GO annotations of molecular function

Name	Definition
cytochrome-b5 reductase activity, acting on NAD(P)H	Catalysis of the reaction: NAD(P)H + H+ + 2 ferricytochrome b(5) = NAD(P)+ + 2 ferrocytochrome b(5).
FAD binding	Binding to the oxidized form, FAD, of flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes.

2 GO annotations of biological process

Name	Definition
bicarbonate transport	The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
sterol biosynthetic process	The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule.

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
Q96HP4	OXNAD1	Oxidoreductase NAD-binding domain-containing protein 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
MGIQTSPVLL	ASLGVGLVTL	LGLAVGSYLV	RRSRRPQVTL	LDPNEKYLLR	LLDKTTVSHN
70	80	90	100	110	120
TKRFRFALPT	AHHTLGLPVG	KHIYLSTRID	GSLVIRPYTP	VTSDEDQGYV	DLVIKVYLKG
130	140	150	160	170	180
VHPKFPEGGK	MSQYLDSLKV	GDVVEFRGPS	GLLTYTGKGH	FNIQPNKKSP	PEPRVAKKLG
190	200	210	220	230	240
MIAGGTGITP	MLQLIRAILK	VPEDPTQCFL	LFANQTEKDI	ILREDLEELQ	ARYPNRFKLW
250	260	270	280	290	300
FTLDHPPKDW	AYSKGFVTAD	MIREHLPAPG	DDVLVLLCGP	PPMVQLACHP	NLDKLGYSQK

MRFTY