AiPD: Autoinhibited Protein Database

Q14534

Gene name	SQLE (ERG1)
Protein name	Squalene monooxygenase
Names	Squalene epoxidase, SE
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6713
EC number	1.14.14.17: With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

61-145 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

61-145 (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

4 structures for Q14534

Entry ID	Method	Resolution	Chain	Position	Source
6C6N	X-ray	230 A	A/B	118-574	PDB
6C6P	X-ray	250 A	A/B	118-574	PDB
6C6R	X-ray	300 A	A/B	118-574	PDB
AF-Q14534-F1	Predicted				AlphaFoldDB

413 variants for Q14534

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1208572822 CA372179382	2	W>L		No	ClinGen gnomAD
rs779249280 CA4872771	2	W>R		No	ClinGen ExAC TOPMed gnomAD
CA372179411 rs1264153723	4	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs758465148 CA372179416	5	L>V		No	ClinGen ExAC TOPMed gnomAD
CA185309787 rs984466702	6	G>S		No	ClinGen Ensembl
CA372179434 rs1252681932	6	G>V		No	ClinGen gnomAD
CA372179475 rs1482045790	8	A>D		No	ClinGen gnomAD
rs1257178127 CA372179486	9	T>A		No	ClinGen gnomAD
CA372179491 rs1486316397	9	T>I		No	ClinGen TOPMed gnomAD
CA372179518 rs1190686850	10	F>L		No	ClinGen TOPMed gnomAD
CA372179534 rs1261174552	11	T>I		No	ClinGen gnomAD
rs1260233384 CA372179552	12	Y>C		No	ClinGen TOPMed
CA4872775 rs201152386	14	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1464674083 CA372179627	15	K>E		No	ClinGen gnomAD
TCGA novel	16	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372179658 rs1172796393	16	K>M		No	ClinGen gnomAD
CA4872777 rs776947589	17	F>L		No	ClinGen ExAC gnomAD
rs559474680 CA4872778	18	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	19	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372179719 rs1296239322	19	D>G		No	ClinGen gnomAD
TCGA novel	19	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1360726298 CA372179778	22	T>I		No	ClinGen TOPMed gnomAD
CA372179775 rs1360726298	22	T>S		No	ClinGen TOPMed gnomAD
rs1405508341 CA372179827	25	N>K		No	ClinGen TOPMed
rs1284918943 CA372179822	25	N>S		No	ClinGen TOPMed
CA4872779 rs367853926	26	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4872780 rs774013521	28	V>I		No	ClinGen ExAC TOPMed gnomAD
CA372179883 rs774013521	28	V>L		No	ClinGen ExAC TOPMed gnomAD
rs761372334 CA4872781	29	L>V		No	ClinGen ExAC TOPMed gnomAD
CA372179941 rs528628772	30	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4872784 rs760681490	31	C>Y		No	ClinGen ExAC gnomAD
rs766462696 CA4872786 CA4872785	32	V>L		No	ClinGen ExAC gnomAD
CA372180156 rs1431720060	42	L>P		No	ClinGen gnomAD
rs1563594370 CA372180178	43	S>C		No	ClinGen Ensembl
rs751577661 CA4872789	46	C>S		No	ClinGen ExAC gnomAD
rs758562719 CA4872790	47	R>C		No	ClinGen ExAC gnomAD
CA372180237 rs1344535286	47	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1454209174 CA372180245	48	H>P		No	ClinGen gnomAD
CA185309892 rs867412822	49	R>*		No	ClinGen gnomAD
CA4872792 rs777897360	50	N>K		No	ClinGen ExAC TOPMed gnomAD
CA372180279 rs781628118	52	G>D		No	ClinGen ExAC gnomAD
rs781628118 CA4872794	52	G>V		No	ClinGen ExAC gnomAD
rs746404552 CA4872796	54	L>F		No	ClinGen ExAC gnomAD
CA185309965 rs948528483	55	G>R		No	ClinGen gnomAD
rs1282548886 CA372180313	56	R>C		No	ClinGen gnomAD
TCGA novel	56	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372180331 rs1563594425	58	Q>E		No	ClinGen Ensembl
CA372180374 rs1486876456	61	S>F		No	ClinGen TOPMed
rs1470816556 CA372180370	61	S>P		No	ClinGen gnomAD
rs1045555023 CA185309976	62	Q>*		No	ClinGen Ensembl
CA372180381 rs1217103513	62	Q>R		No	ClinGen gnomAD
rs780291853 CA4872798	65	L>V		No	ClinGen ExAC gnomAD
rs747820150 CA4872799	66	F>L		No	ClinGen ExAC gnomAD
CA4872800 rs771686527	66	F>S		No	ClinGen ExAC gnomAD
CA4872801 rs372448828	67	S>L		No	ClinGen ESP ExAC gnomAD
CA4872802 rs760313387	68	D>G		No	ClinGen ExAC gnomAD
CA372180437 rs1392139138	68	D>H		No	ClinGen TOPMed gnomAD
rs1392139138 CA372180436	68	D>N		No	ClinGen TOPMed gnomAD
rs991802896 CA185309999	71	S>A		No	ClinGen TOPMed gnomAD
CA4872803 rs770592089	72	G>V		No	ClinGen ExAC gnomAD
CA372180497 rs1161199721	74	P>S		No	ClinGen gnomAD
CA372180509 rs1293340375	75	F>V		No	ClinGen TOPMed
rs765024504 CA4872807	77	G>D		No	ClinGen ExAC TOPMed gnomAD
rs765024504 CA185310017	77	G>V		No	ClinGen ExAC TOPMed gnomAD
rs752495419 CA4872808	78	F>C		No	ClinGen ExAC TOPMed gnomAD
rs752495419 CA4872809	78	F>S		No	ClinGen ExAC TOPMed gnomAD
rs556896372 CA4872811	81	A>T		No	ClinGen ExAC gnomAD
rs1444058034 CA372180599	83	S>C		No	ClinGen TOPMed gnomAD
rs1444058034 CA372180597	83	S>F		No	ClinGen TOPMed gnomAD
rs1444058034 CA372180601	83	S>Y		No	ClinGen TOPMed gnomAD
rs757287545 CA4872813	84	P>H		No	ClinGen ExAC gnomAD
rs757287545 CA4872814	84	P>L		No	ClinGen ExAC gnomAD
rs760774524	85	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA372180614 rs1373056716	85	P>T		No	ClinGen TOPMed
rs760774524	86	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs756633549 CA4872819	89	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	90	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183001501 CA372180693	91	E>G		No	ClinGen TOPMed
rs376620289 CA4872821	94	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	94	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372180750 rs1273841515	95	A>S		No	ClinGen gnomAD
CA4872822 rs568324199	95	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA372180785 rs1232161266	96	R>K		No	ClinGen gnomAD
CA372180798 rs1200885385	97	R>K		No	ClinGen TOPMed
rs746695516 CA4872824 TCGA novel	97	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA4872859 rs188087180	98	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773317153 CA4872860	98	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773317153 CA372182408	98	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766514291 CA4872862	100	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4872865 rs765684539	102	T>A		No	ClinGen ExAC gnomAD
CA4872866 rs753179864	102	T>I		No	ClinGen ExAC TOPMed gnomAD
rs756941260 CA4872867	103	N>S		No	ClinGen ExAC TOPMed gnomAD
rs781041736 CA4872868	104	I>F		No	ClinGen ExAC TOPMed gnomAD
rs781041736 CA4872869	104	I>V		No	ClinGen ExAC TOPMed gnomAD
rs894173812 CA185313272	106	E>G		No	ClinGen TOPMed
CA4872871 rs779628630	109	L>V		No	ClinGen ExAC TOPMed gnomAD
rs868706261 CA185313286	110	I>V		No	ClinGen TOPMed gnomAD
CA372182684 rs1490821394	114	A>T		No	ClinGen gnomAD
CA4872873 rs768642376	115	C>S		No	ClinGen ExAC gnomAD
rs997744366 CA185313325	116	T>R		No	ClinGen Ensembl
CA372182704 rs1266478069	117	S>T		No	ClinGen TOPMed gnomAD
CA372182709 rs1305248138	118	T>A		No	ClinGen TOPMed
rs774098250 CA4872874	118	T>I		No	ClinGen ExAC gnomAD
rs1463539804 CA372182751	124	P>S		No	ClinGen TOPMed
rs368164556 CA185313356	125	E>Q		No	ClinGen ESP
rs1269999379 CA372182766	126	V>A		No	ClinGen gnomAD
CA185313362 rs372373184	129	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
COSM1095945 rs1473833287 CA372182812	133	V>M	Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA185313373 rs369741221	134	L>I		No	ClinGen ESP
rs372259692 CA4872881	138	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1048858 CA4872882	139	A>V		No	ClinGen ExAC gnomAD
rs763368484 CA4872885	141	V>L		No	ClinGen ExAC TOPMed gnomAD
rs763368484 CA4872884	141	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	142	L>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374652312 CA4872886	142	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4872887 rs755852585	144	R>G		No	ClinGen ExAC TOPMed gnomAD
CA372182948 rs1329256155	146	G>E		No	ClinGen TOPMed gnomAD
rs1337489997 CA372182953	147	R>G		No	ClinGen gnomAD
CA185313445 rs368938983	147	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs368938983 CA4872888	147	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs372696440 CA4872890	148	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1588111887 CA372182989	149	V>G		No	ClinGen Ensembl
CA185313498 rs910544809	149	V>M		No	ClinGen TOPMed
CA4872892 rs748117402	152	I>T		No	ClinGen ExAC gnomAD
CA372183038 rs1429307885	153	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA185313564 rs376060828	153	E>G		No	ClinGen ESP
TCGA novel	154	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771790593 CA4872893	157	K>R		No	ClinGen ExAC
TCGA novel	158	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1338267329 CA372183127	161	R>G		No	ClinGen gnomAD
CA372183136 rs1563595878	161	R>S		No	ClinGen Ensembl
CA372183142 rs1195618016	162	I>T		No	ClinGen gnomAD
rs1443538928 CA372183188	166	F>L		No	ClinGen TOPMed
CA4872895 rs747188670	169	P>L		No	ClinGen ExAC gnomAD
CA4872897 rs776542793	170	G>V		No	ClinGen ExAC gnomAD
rs1429154706 CA372183289	173	H>R		No	ClinGen TOPMed
rs373553731 CA185313610	174	V>I		No	ClinGen ESP TOPMed
CA4872898 rs759739681	176	K>E		No	ClinGen ExAC gnomAD
rs1159315304 CA372183326	176	K>N		No	ClinGen TOPMed
CA372183321 rs1166925336	176	K>R		No	ClinGen gnomAD
rs1293455457 CA372183341	178	L>F		No	ClinGen TOPMed gnomAD
rs1371589850 CA372183350	179	G>A		No	ClinGen gnomAD
CA185313625 rs973914159	181	G>E		No	ClinGen gnomAD
CA372183607 rs1311938411	183	T>A		No	ClinGen TOPMed
CA185315486 rs992101447	185	E>G		No	ClinGen Ensembl
rs764717217 CA4872927	186	G>A		No	ClinGen ExAC gnomAD
rs764717217 CA372183628	186	G>D		No	ClinGen ExAC gnomAD
rs759202651 CA4872926	186	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	186	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758237368 CA4872929	187	L>F		No	ClinGen ExAC TOPMed gnomAD
rs751476451 CA4872931	191	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	193	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs944308818 CA185315628	196	M>T		No	ClinGen TOPMed gnomAD
rs370556124 CA4872933	196	M>V		No	ClinGen ESP ExAC gnomAD
rs1588112581 CA372183778	200	Q>P		No	ClinGen Ensembl
CA4872934 rs746073372	202	S>N		No	ClinGen ExAC gnomAD
rs977648017 CA185315631	203	K>Q		No	ClinGen Ensembl
rs756471059 CA4872935	203	K>T		No	ClinGen ExAC gnomAD
rs1041212738 CA185315643	205	E>G		No	ClinGen TOPMed
rs1289618630 CA372183868	207	Q>R		No	ClinGen TOPMed
rs1321926371 CA372183877	208	I>V		No	ClinGen gnomAD
rs749430663 CA4872937	216	N>S		No	ClinGen ExAC gnomAD
rs774878932 CA4872939	217	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA4872940 rs748610310	218	V>L		No	ClinGen ExAC gnomAD
rs375037836 CA4872941	220	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4872942 rs773628394	220	S>R		No	ClinGen ExAC gnomAD
rs1184431046 CA372184098	225	H>R		No	ClinGen gnomAD
rs368351981 CA4872946	226	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs764909838 CA4872944	226	H>R		No	ClinGen ExAC gnomAD
rs1050130989 CA185315732	226	H>Y		No	ClinGen TOPMed
rs763545973 CA4872947	227	G>R		No	ClinGen ExAC gnomAD
CA4872948 rs556520012	228	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA4872950 rs757197524	231	M>T		No	ClinGen ExAC gnomAD
rs1407211049 CA372184174	231	M>V		No	ClinGen gnomAD
CA4872951 rs767415219	234	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	235	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372184258 rs1414985298	237	A>G		No	ClinGen gnomAD
rs1165180008 CA372184286	239	A>G		No	ClinGen TOPMed gnomAD
rs750283022 CA4872952	239	A>P		No	ClinGen ExAC TOPMed gnomAD
rs756378989 CA4872953	240	E>D		No	ClinGen ExAC gnomAD
CA372184305 rs1236078090	241	P>T		No	ClinGen TOPMed
CA4872955 rs749500611	242	N>D		No	ClinGen ExAC TOPMed gnomAD
CA185317759 rs532646230	243	A>P		No	ClinGen TOPMed gnomAD
CA372184400 rs532646230	243	A>S		No	ClinGen TOPMed gnomAD
CA4872968 rs768197233	243	A>V		No	ClinGen ExAC gnomAD
CA372184423 rs1221466064	246	I>T		No	ClinGen TOPMed
CA372184434 rs1356931509	248	G>S		No	ClinGen TOPMed
CA185317763 rs1041191875	252	Q>H		No	ClinGen gnomAD
CA372184463 rs1272116734	252	Q>R		No	ClinGen gnomAD
rs775886157 CA185317764	254	L>F		No	ClinGen Ensembl
CA185317779 rs757897281	256	E>G		No	ClinGen TOPMed gnomAD
rs533501431 CA4872970	256	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868459450 CA185317788	257	D>Y		No	ClinGen Ensembl
CA4872971 rs368750766	259	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1569207 rs1187664306 CA372184542	260	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1238677482 CA372184552	261	M>L		No	ClinGen gnomAD
CA185317812 rs199491862	262	G>E		No	ClinGen Ensembl
rs1185564822 CA372184590	264	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1419317381 CA372184611	265	Y>*		No	ClinGen gnomAD
TCGA novel	266	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372184628 rs1450491894	267	D>N		No	ClinGen gnomAD
rs1374197517 CA372184650	268	K>R		No	ClinGen gnomAD
rs1434620962 CA372184657	269	E>K		No	ClinGen gnomAD
rs750407738 CA4872973	271	G>A		No	ClinGen ExAC gnomAD
rs1230378614 CA372184715	273	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4872974 rs760505492	273	I>N		No	ClinGen ExAC TOPMed gnomAD
CA372184711 rs760505492	273	I>S		No	ClinGen ExAC TOPMed gnomAD
rs760505492 CA4872975	273	I>T		No	ClinGen ExAC TOPMed gnomAD
CA372184722 rs1300919644	274	K>R		No	ClinGen gnomAD
CA372184854 rs1211437701	278	A>V		No	ClinGen gnomAD
CA372184856 rs1342490523	279	P>A		No	ClinGen TOPMed
rs768230188 CA4872988	280	L>R		No	ClinGen ExAC TOPMed gnomAD
CA372184880 rs1408725042	281	T>S		No	ClinGen gnomAD
rs1409048027 CA372184885	282	V>I		No	ClinGen TOPMed
TCGA novel	284	A>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469012396 CA372184945	287	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1469012396 CA372184943	287	L>V		No	ClinGen gnomAD
CA372184962 rs1412757735	288	F>L		No	ClinGen gnomAD
rs1158582850 CA372184958	288	F>S		No	ClinGen gnomAD
rs1387137666 CA372185075	297	S>C		No	ClinGen gnomAD
TCGA novel	297	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1229589438 CA372185078	298	N>D		No	ClinGen TOPMed
CA4872994 rs199727991	298	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4872993 rs199727991 COSM1635636	298	N>S	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	299	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1333928507 CA372185093	300	V>F		No	ClinGen gnomAD
rs766266300 CA4872995	302	V>I		No	ClinGen ExAC gnomAD
CA372185120 rs1160987332	305	H>N		No	ClinGen TOPMed
CA372185123 rs1330590774	305	H>R		No	ClinGen gnomAD
rs1470487655 CA372185163	309	F>L		No	ClinGen gnomAD
TCGA novel	311	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1356563892 CA372185180	311	M>T		No	ClinGen TOPMed gnomAD
CA4872997 rs759773392	311	M>V		No	ClinGen ExAC gnomAD
rs118130263 CA4873012	313	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377710136 CA4873013	316	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	319	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1267672993 CA372185309	320	N>S		No	ClinGen gnomAD
rs771648833 CA4873015	322	A>S		No	ClinGen ExAC gnomAD
rs1204813506 CA372185354	324	L>H		No	ClinGen gnomAD
rs1563597756 CA372185368	326	L>V		No	ClinGen Ensembl
CA4873017 COSM749429 rs746940840	329	P>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs746940840 CA372185404	329	P>R		No	ClinGen ExAC TOPMed gnomAD
rs772917271 CA4873016	329	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA372185431 rs1255529303	332	V>F		No	ClinGen TOPMed gnomAD
CA4873019 rs776464721	334	I>V		No	ClinGen ExAC TOPMed gnomAD
CA372185476 rs1371496840	336	Q>H		No	ClinGen gnomAD
CA372185478 rs1448654207	337	I>V		No	ClinGen gnomAD
rs759207857 CA4873020	340	S>N		No	ClinGen ExAC gnomAD
CA372185532 rs1246697357	342	T>S		No	ClinGen TOPMed
rs376210461 CA4873021	342	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4873023 rs763178484	344	V>I		No	ClinGen ExAC TOPMed gnomAD
CA372185555 rs1233578493	345	L>V		No	ClinGen TOPMed gnomAD
rs1397474036 CA372185567	346	V>A		No	ClinGen gnomAD
rs199608260 CA4873025	348	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1588113846 CA372185597	349	R>K		No	ClinGen Ensembl
rs554371101 CA4873027	350	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372185706 rs1344997188	359	Y>H		No	ClinGen gnomAD
rs1273044869 CA372185721	360	M>T		No	ClinGen TOPMed
rs370691840 CA185319450	360	M>V		No	ClinGen ESP TOPMed gnomAD
CA4873028 rs750970779	361	V>F		No	ClinGen ExAC gnomAD
rs756365939 CA4873029	362	E>G		No	ClinGen ExAC TOPMed gnomAD
CA4873030 rs574394040	363	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA372185948 rs1464574282	369	P>T		No	ClinGen gnomAD
rs368547177 CA372186093	371	H>P		No	ClinGen ESP TOPMed gnomAD
rs763127676 CA372186101	371	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs368547177 CA185320937	371	H>R		No	ClinGen ESP TOPMed gnomAD
rs1588114443 CA372186136	374	E>D		No	ClinGen Ensembl
CA372186153 rs1466977465	376	F>L		No	ClinGen gnomAD
rs1284767148 CA372186157	376	F>S		No	ClinGen TOPMed
CA372186170 rs1268003387	377	L>S		No	ClinGen gnomAD
CA372186177 rs1156376514	378	E>K		No	ClinGen gnomAD
CA372186193 rs1410541327	379	A>T		No	ClinGen gnomAD
CA372186203 rs1457499818	379	A>V		No	ClinGen TOPMed gnomAD
rs1160947004 CA372186220	381	D>N		No	ClinGen gnomAD
CA4873043 rs141216229	382	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372186245 rs1434802767	383	S>C		No	ClinGen gnomAD
CA372186252 rs996113755	384	H>P		No	ClinGen gnomAD
CA185320949 rs996113755	384	H>R		No	ClinGen gnomAD
CA372186305 rs1389003599	388	M>V		No	ClinGen TOPMed gnomAD
rs1286606582 CA372186337	390	A>V		No	ClinGen gnomAD
CA372186374 rs868207338	393	L>F		No	ClinGen gnomAD
CA185320975 rs868207338	393	L>I		No	ClinGen gnomAD
rs1393334886 CA372186383	394	P>S		No	ClinGen TOPMed
CA372186394 rs1323438128	395	P>S		No	ClinGen TOPMed
rs756700909 CA372186467	401	R>L		No	ClinGen ExAC gnomAD
rs756700909 CA4873046	401	R>Q		No	ClinGen ExAC gnomAD
CA372171329 rs1483314000	403	V>G		No	ClinGen gnomAD
rs1206746654 CA372171335	404	L>V		No	ClinGen gnomAD
rs749030779 CA4873059	405	L>P		No	ClinGen ExAC gnomAD
rs761395104	406	L>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
COSM1095953 rs774489924 CA4873061	409	A>T	Variant assessed as Somatic; 0.0 impact. endometrium prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA372171449 rs1425926080	409	A>V		No	ClinGen gnomAD
rs1193062463 CA372171458	410	Y>D		No	ClinGen TOPMed
CA4873062 rs762107139	412	M>T		No	ClinGen ExAC gnomAD
CA185272786 rs868568418	415	P>S		No	ClinGen Ensembl
rs773407051 CA4873064	417	T>N		No	ClinGen ExAC TOPMed gnomAD
CA372171710 rs1357495213	419	G>R		No	ClinGen gnomAD
rs761057440 CA372171756	421	M>L		No	ClinGen ExAC gnomAD
rs761057440 CA4873065	421	M>V		No	ClinGen ExAC gnomAD
CA372171791 rs367723134	422	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4873066 rs367723134	422	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs921017440 CA185272793	424	A>T		No	ClinGen Ensembl
CA4873067 rs182460913	425	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751118895 CA4873070	428	I>K		No	ClinGen ExAC gnomAD
CA4873069 rs765705106	428	I>L		No	ClinGen ExAC gnomAD
CA4873071 rs751118895	428	I>T		No	ClinGen ExAC gnomAD
rs780565828 CA4873072	429	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1280304247 CA372171958	429	K>N		No	ClinGen TOPMed
rs749997081 CA4873073	429	K>T		No	ClinGen ExAC gnomAD
CA4873075 rs779922715	431	W>*		No	ClinGen ExAC gnomAD
TCGA novel	432	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	432	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201827636 CA4873076	433	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	434	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748312008 CA4873079	436	K>N		No	ClinGen ExAC TOPMed gnomAD
rs371930880 CA4873080	437	G>A		No	ClinGen ESP ExAC gnomAD
rs1423610958 CA372172128	438	I>M		No	ClinGen gnomAD
rs1176820854 CA372172156	440	D>E		No	ClinGen gnomAD
rs1414010276 CA372172143	440	D>N		No	ClinGen TOPMed gnomAD
rs571774159 CA372172216	443	D>G		No	ClinGen 1000Genomes gnomAD
CA185272895 rs571774159	443	D>V		No	ClinGen 1000Genomes gnomAD
CA372172231 rs1433135876	444	D>N		No	ClinGen gnomAD
CA372172257 rs1319723858	445	A>T		No	ClinGen gnomAD
CA372172328 rs376815713	447	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4873081 rs376815713	447	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs200005717 CA372172379	449	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200005717 CA4873083	449	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4873096 rs748025073	457	A>G		No	ClinGen ExAC gnomAD
TCGA novel	458	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372172697 rs1471656048	458	R>T		No	ClinGen gnomAD
TCGA novel	459	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372172734 rs1181495800	460	T>I		No	ClinGen gnomAD
rs1266390048 CA372172760	461	S>F		No	ClinGen TOPMed
CA4873098 rs778016052	463	S>A		No	ClinGen ExAC TOPMed gnomAD
CA372172798 rs1161281875	463	S>F		No	ClinGen TOPMed gnomAD
CA4873099 rs747201931	464	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	465	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372172849 rs1325459501	466	V>M		No	ClinGen gnomAD
CA372172901 rs202127945	468	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1303830931 CA372172945	471	Q>P		No	ClinGen TOPMed
CA185273064 rs757923273	472	A>G		No	ClinGen Ensembl
rs746374911 CA4873102	474	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1369334049 CA372173029	475	E>Q		No	ClinGen gnomAD
CA185273069 rs1025049950	480	T>I		No	ClinGen TOPMed
rs772859876 CA4873107	481	D>E		No	ClinGen ExAC gnomAD
CA372173216 rs201600660	481	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4873106 rs201600660	481	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs747225224 CA4873117	482	D>E		No	ClinGen ExAC TOPMed gnomAD
CA372173607 rs1481666283	483	S>A		No	ClinGen gnomAD
CA4873118 rs757623226	484	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4873119 rs781393163	485	H>R		No	ClinGen ExAC gnomAD
rs772760066 CA185273995	485	H>Y		No	ClinGen TOPMed
CA4873121 rs745891403	490	A>G		No	ClinGen ExAC TOPMed gnomAD
CA4873122 rs770022866	493	L>F		No	ClinGen ExAC TOPMed gnomAD
rs770022866 CA4873123	493	L>I		No	ClinGen ExAC TOPMed gnomAD
CA4873124 rs749768534	494	Y>F		No	ClinGen ExAC
rs1374661300 CA372173918	496	K>I		No	ClinGen gnomAD
rs200864166 CA4873127	500	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4873128 rs770617283	503	A>V		No	ClinGen ExAC TOPMed gnomAD
CA185274056 rs1030689179	506	V>I		No	ClinGen gnomAD
rs1434750691 CA372174186	507	G>R		No	ClinGen gnomAD
rs1485661601 CA372174258	510	S>F		No	ClinGen TOPMed
CA372174262 rs1194387674	511	V>I		No	ClinGen gnomAD
CA372175467 rs1266507785	512	L>W		No	ClinGen gnomAD
CA4873146 rs779312741	515	N>D		No	ClinGen ExAC gnomAD
CA372175541 rs748462547	515	N>K		No	ClinGen ExAC TOPMed gnomAD
CA372175569 rs1487501030	516	P>R		No	ClinGen TOPMed gnomAD
rs371364219 CA4873148	518	V>L		No	ClinGen ESP ExAC gnomAD
rs776200193 CA4873149	520	I>T		No	ClinGen ExAC gnomAD
rs1456048263 CA372175686	522	H>D		No	ClinGen TOPMed
CA372175694 rs1481133271	522	H>R		No	ClinGen TOPMed gnomAD
CA4873150 rs374580392	524	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA372175762 rs1410796864	525	A>G		No	ClinGen gnomAD
rs868790499 CA185274938	526	V>I		No	ClinGen TOPMed
rs769337536 CA4873151	527	A>G		No	ClinGen ExAC gnomAD
CA372175802 rs769337536	527	A>V		No	ClinGen ExAC gnomAD
CA4873152 rs774934453	528	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1347305634 CA372175835	529	Y>C		No	ClinGen gnomAD
CA372175848 rs1318729772	530	A>T		No	ClinGen gnomAD
TCGA novel	531	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372175870 rs1293466685	531	V>M		No	ClinGen gnomAD
rs763990788 CA4873154	536	K>T		No	ClinGen ExAC gnomAD
rs1554588651 CA4873155	537	S>L		No	ClinGen Ensembl
CA372176087 rs1406873285	539	P>H		No	ClinGen gnomAD
CA4873158 rs761630458	540	W>C		No	ClinGen ExAC gnomAD
rs1238853409 CA372176097	540	W>R		No	ClinGen TOPMed
rs990810017 CA185274964	543	K>R		No	ClinGen TOPMed gnomAD
rs1308951680 CA372176245	544	P>L		No	ClinGen gnomAD
rs866447701 CA185274973	545	R>*		No	ClinGen Ensembl
CA185274976 rs913370846	545	R>Q		No	ClinGen TOPMed gnomAD
rs928893833 CA185275007	547	L>P		No	ClinGen Ensembl
rs780151281 CA4873162	549	S>N		No	ClinGen ExAC gnomAD
CA4873164 rs755106693	551	G>D		No	ClinGen ExAC gnomAD
rs927728603 CA185275041	552	A>T		No	ClinGen TOPMed
CA4873165 rs779354190	553	V>I		No	ClinGen ExAC TOPMed gnomAD
rs772364929 CA4873167	554	L>F		No	ClinGen ExAC gnomAD
rs748660967 CA4873166	554	L>S		No	ClinGen ExAC gnomAD
rs1427079175 CA372176509	555	Y>C		No	ClinGen gnomAD
rs371552711 CA4873168	555	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1306326764 CA372176556	557	A>V		No	ClinGen gnomAD
CA372176579 rs1442944867	558	C>S		No	ClinGen gnomAD
CA372176619 rs1299979287	560	V>I		No	ClinGen TOPMed
CA372176651 rs1293704368	561	I>K		No	ClinGen TOPMed
rs1227552030 CA372176658	561	I>M		No	ClinGen gnomAD
CA372176643 COSM1330327 rs1377198477	561	I>V	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA372176732 rs1270480239	565	I>F		No	ClinGen gnomAD
rs184542863 CA4873171	565	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1226068046 CA372176768	566	Y>C		No	ClinGen gnomAD
rs748700568 CA4873172	571	Y>*		No	ClinGen ExAC gnomAD
rs1360252149 CA372176867	571	Y>C		No	ClinGen TOPMed
CA4873173 rs372091386	572	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA372176910 rs1235408165	573	V>G		No	ClinGen gnomAD
CA372176900 rs1205961276	573	V>I		No	ClinGen gnomAD

No associated diseases with Q14534

5 regional properties for Q14534

Type	Name	Position	InterPro Accession
domain	IPT domain	255 - 339	IPR002909
conserved_site	Transcription factor COE, conserved site	162 - 171	IPR018350
domain	Transcription factor COE, DNA-binding domain	22 - 248	IPR032200
domain	Transcription factor COE, helix-loop-helix domain	341 - 384	IPR032201
domain	Transcription factor COE, IPT domain	256 - 340	IPR038006

Functions

		Description
EC Number	1.14.14.17	With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
Subcellular Localization	Microsome membrane ; Peripheral membrane protein Endoplasmic reticulum membrane ; Peripheral membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 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).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.

2 GO annotations of molecular function

Name	Definition
FAD binding	Binding to the oxidized form, FAD, of flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes.
squalene monooxygenase activity	Catalysis of the reaction: H(+) + NADPH + O(2) + squalene = (S)-2,3-epoxysqualene + H(2)O + NADP(+).

6 GO annotations of biological process

Name	Definition
cellular aromatic compound metabolic process	The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells.
cholesterol metabolic process	The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues.
lipid droplet formation	A process that results in the assembly, arrangement of constituent parts of a lipid droplet.
regulation of cell population proliferation	Any process that modulates the frequency, rate or extent of cell proliferation.
response to organic substance	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus.
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.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P32476	ERG1	Squalene epoxidase ERG1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P52019	Sqle	Squalene monooxygenase	Mus musculus (Mouse)	PR
P52020	Sqle	Squalene monooxygenase	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MWTFLGIATF	TYFYKKFGDF	ITLANREVLL	CVLVFLSLGL	VLSYRCRHRN	GGLLGRQQSG
70	80	90	100	110	120
SQFALFSDIL	SGLPFIGFFW	AKSPPESENK	EQLEARRRRK	GTNISETSLI	GTAACTSTSS
130	140	150	160	170	180
QNDPEVIIVG	AGVLGSALAA	VLSRDGRKVT	VIERDLKEPD	RIVGEFLQPG	GYHVLKDLGL
190	200	210	220	230	240
GDTVEGLDAQ	VVNGYMIHDQ	ESKSEVQIPY	PLSENNQVQS	GRAFHHGRFI	MSLRKAAMAE
250	260	270	280	290	300
PNAKFIEGVV	LQLLEEDDVV	MGVQYKDKET	GDIKELHAPL	TVVADGLFSK	FRKSLVSNKV
310	320	330	340	350	360
SVSSHFVGFL	MKNAPQFKAN	HAELILANPS	PVLIYQISSS	ETRVLVDIRG	EMPRNLREYM
370	380	390	400	410	420
VEKIYPQIPD	HLKEPFLEAT	DNSHLRSMPA	SFLPPSSVKK	RGVLLLGDAY	NMRHPLTGGG
430	440	450	460	470	480
MTVAFKDIKL	WRKLLKGIPD	LYDDAAIFEA	KKSFYWARKT	SHSFVVNILA	QALYELFSAT
490	500	510	520	530	540
DDSLHQLRKA	CFLYFKLGGE	CVAGPVGLLS	VLSPNPLVLI	GHFFAVAIYA	VYFCFKSEPW
550	560	570
ITKPRALLSS	GAVLYKACSV	IFPLIYSEMK	YMVH