AiPD: Autoinhibited Protein Database

Q9P035

Gene name	HACD3
Protein name	Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3
Names	3-hydroxyacyl-CoA dehydratase 3, HACD3, Butyrate-induced protein 1, B-ind1, hB-ind1, Protein-tyrosine phosphatase-like A domain-containing protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51495
EC number	4.2.1.134: Hydro-lyases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

87-165 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

87-165 (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 Q9P035

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9P035-F1	Predicted				AlphaFoldDB

278 variants for Q9P035

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA392900485 rs1238067394	8	P>S		No	ClinGen gnomAD
CA392900493 rs1358808567	9	H>Y		No	ClinGen gnomAD
rs1244300782 CA392900526	11	Y>C		No	ClinGen TOPMed
rs1226655029 CA392900533	12	W>R		No	ClinGen gnomAD
CA392900555 rs1272667293	13	A>G		No	ClinGen gnomAD
rs1458292614 CA392900561	14	Q>*		No	ClinGen gnomAD
CA392900574 rs1479877122	15	R>Q		No	ClinGen TOPMed
CA271572814 rs1053345731	17	R>C		No	ClinGen TOPMed gnomAD
rs1236903901 CA392900617	18	E>D		No	ClinGen TOPMed gnomAD
rs1205569395 CA392900606	18	E>K		No	ClinGen TOPMed
rs1014170975 CA271572828	22	R>L		No	ClinGen TOPMed
rs372174820 CA271572856	26	S>N		No	ClinGen Ensembl
CA392900677 rs1465701202	27	D>G		No	ClinGen gnomAD
rs1054853487 CA392900687	29	Q>*		No	ClinGen gnomAD
CA271572866 rs1054853487	29	Q>K		No	ClinGen gnomAD
CA7618926 rs780903175	31	P>A		No	ClinGen ExAC gnomAD
CA392904330 rs1424654772	33	I>V		No	ClinGen gnomAD
rs752335758 CA7618927	34	S>G		No	ClinGen ExAC gnomAD
CA7618928 rs755831959	35	I>V		No	ClinGen ExAC gnomAD
rs1596210351 CA392904365	36	T>A		No	ClinGen Ensembl
rs1315605723 CA392904373	36	T>I		No	ClinGen TOPMed
rs770395083 CA7618931	39	V>G		No	ClinGen ExAC gnomAD
rs748827681 CA392904412	39	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7618930 rs748827681	39	V>M		No	ClinGen ExAC TOPMed gnomAD
rs753801389 CA7618932	41	H>R		No	ClinGen ExAC TOPMed gnomAD
CA7618933 rs747529368	43	K>N		No	ClinGen ExAC gnomAD
rs771321368 CA7618944	45	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA392904792 rs1467914132	47	H>Q		No	ClinGen gnomAD
CA392904796 rs1314259528	48	G>S		No	ClinGen gnomAD
rs755778804 CA7618947	55	Y>C		No	ClinGen ExAC gnomAD
rs755778804 CA7618948	55	Y>F		No	ClinGen ExAC gnomAD
CA7618949 VAR_037712 rs11632737	56	E>K		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs747483242 CA7618953	62	L>F		No	ClinGen ExAC
rs186662742 CA7618952	62	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1278437007 CA392905024	67	P>L		No	ClinGen gnomAD
rs1191574324 CA392905023	67	P>S		No	ClinGen TOPMed
CA392905021 rs1191574324	67	P>T		No	ClinGen TOPMed
CA392905556 rs1317079502	69	P>A		No	ClinGen TOPMed gnomAD
CA392905562 rs1350369914	69	P>L		No	ClinGen gnomAD
CA392905561 rs1350369914	69	P>R		No	ClinGen gnomAD
CA392905557 rs1317079502	69	P>S		No	ClinGen TOPMed gnomAD
CA7618982 rs201830295	72	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1323837715 CA392905599	73	L>M		No	ClinGen gnomAD
rs1424277347 CA392905610	74	T>S		No	ClinGen TOPMed
CA392905616 rs1281486021	75	Q>E		No	ClinGen gnomAD
rs1348884613 CA392905628	76	R>G		No	ClinGen gnomAD
rs775563054 CA392905650	78	V>A		No	ClinGen ExAC TOPMed gnomAD
CA7618983 rs775563054	78	V>G		No	ClinGen ExAC TOPMed gnomAD
CA392905657 rs1337067116	79	N>K		No	ClinGen gnomAD
rs1212300528 CA392905660	80	I>V		No	ClinGen gnomAD
rs1252922283 CA392905669	81	T>I		No	ClinGen gnomAD
rs760704126 CA7618984	82	V>A		No	ClinGen ExAC gnomAD
rs1458488379 CA392905672	82	V>I		No	ClinGen gnomAD
TCGA novel	84	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1157669469 CA392905807	90	W>*		No	ClinGen gnomAD
rs1596212788 CA392905800	90	W>G		No	ClinGen Ensembl
CA271593092 rs999441146	91	E>G		No	ClinGen Ensembl
CA392905824 rs1287570436	91	E>K		No	ClinGen gnomAD
rs1596212798 CA392905848	92	R>G		No	ClinGen Ensembl
CA392905862 rs1200811386	92	R>S		No	ClinGen TOPMed
rs1484039359 CA392905876	93	L>P		No	ClinGen TOPMed
CA392905894 rs1413828170	94	T>I		No	ClinGen TOPMed gnomAD
CA392905901 rs1596212805	95	K>E		No	ClinGen Ensembl
CA392905936 rs1197495599	96	Q>H		No	ClinGen TOPMed
CA392905931 rs1462576509	96	Q>R		No	ClinGen gnomAD
CA7618986 rs776321683	98	K>Q		No	ClinGen ExAC
CA392905973 rs1393730789	99	R>*		No	ClinGen TOPMed gnomAD
rs1030863935 CA271593100	99	R>Q		No	ClinGen gnomAD
CA271593107 rs747784503	100	P>Q		No	ClinGen Ensembl
rs764778176 CA7618988	104	A>P		No	ClinGen ExAC gnomAD
CA392906062 rs1441683788	105	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs372672939 CA7618989	106	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1357373984 CA392906134	109	R>C		No	ClinGen TOPMed gnomAD
CA7618990 rs757902811	109	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1357373984 CA392906130	109	R>S		No	ClinGen TOPMed gnomAD
CA392906174 rs1312532443	111	L>P		No	ClinGen TOPMed
CA271593131 rs868044151	112	D>N		No	ClinGen Ensembl
rs1396916094 CA392906212	113	E>V		No	ClinGen TOPMed
CA392906265 rs755867233	116	A>G		No	ClinGen ExAC TOPMed gnomAD
rs755867233 CA7618992	116	A>V		No	ClinGen ExAC TOPMed gnomAD
CA392906280 rs1271276251	117	E>A		No	ClinGen gnomAD
rs769701408 CA7619005	124	E>K		No	ClinGen ExAC gnomAD
CA392906519 rs1596213695	125	E>*		No	ClinGen Ensembl
rs1315954062 CA392906543	126	E>G		No	ClinGen TOPMed
CA7619006 rs772730169	127	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7619007 rs200531541	127	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486477698 CA392906569	128	L>I		No	ClinGen TOPMed gnomAD
rs765804659 CA7619008	128	L>P		No	ClinGen ExAC gnomAD
rs1256134436 CA392906588	129	N>D		No	ClinGen gnomAD
CA7619009 rs751097633	129	N>S		No	ClinGen ExAC gnomAD
CA7619010 rs761119479	131	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7619011 rs563313406	131	L>H		No	ClinGen 1000Genomes ExAC gnomAD
rs754407217 CA7619012	132	R>*		No	ClinGen ExAC TOPMed gnomAD
rs757558394 CA7619013	132	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7619014 rs779390764	133	L>M		No	ClinGen ExAC gnomAD
rs750607822 CA7619015	133	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA271594630 rs914995414	135	S>C		No	ClinGen TOPMed gnomAD
CA392906685 rs372958001	135	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1384004000 CA392906692	136	E>K		No	ClinGen TOPMed gnomAD
CA7619017 rs78181111	137	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs78181111 CA392906730	137	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7619018 rs747065485	138	S>F		No	ClinGen ExAC gnomAD
CA392906737 rs1234395883	138	S>P		No	ClinGen gnomAD
rs768900983 CA7619019	141	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1349356506 CA392907468	141	T>I		No	ClinGen TOPMed gnomAD
rs1349356506 CA392907466	141	T>S		No	ClinGen TOPMed gnomAD
rs1176638861 CA392907474	142	L>F		No	ClinGen TOPMed gnomAD
rs370826631 CA392907487	143	T>K		No	ClinGen ESP TOPMed
CA271597951 rs370826631	143	T>R		No	ClinGen ESP TOPMed
CA271597958 rs866466508	145	L>F		No	ClinGen Ensembl
rs373386103 CA7619036	145	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254821062 CA392907525	146	R>T		No	ClinGen gnomAD
rs755003649 CA7619038	147	K>E		No	ClinGen ExAC gnomAD
rs1251487911 CA392907540	147	K>R		No	ClinGen TOPMed gnomAD
CA392907557 rs1421150870	148	G>V		No	ClinGen gnomAD
CA7619039 rs781348893	151	F>L		No	ClinGen ExAC gnomAD
CA392907595 rs1003443238	151	F>L		No	ClinGen TOPMed
rs1363253210 CA392907605	152	M>T		No	ClinGen gnomAD
CA392907649 rs1212365740	155	L>P		No	ClinGen TOPMed
rs747966375 CA7619040	155	L>V		No	ClinGen ExAC gnomAD
CA392907663 rs1461230709	156	V>G		No	ClinGen gnomAD
rs1392989511 CA392907654	156	V>M		No	ClinGen gnomAD
rs1299134569 CA392907667	157	Q>*		No	ClinGen gnomAD
rs777492694 CA7619042	158	F>L		No	ClinGen ExAC
CA392907701 rs1416450686	159	L>S		No	ClinGen TOPMed gnomAD
CA7619043 rs749057596	160	G>*		No	ClinGen ExAC gnomAD
rs770752075 CA7619044	161	F>Y		No	ClinGen ExAC gnomAD
CA7619047 rs771425058	163	W>C		No	ClinGen ExAC TOPMed gnomAD
CA392907753 rs1348759557	165	F>L		No	ClinGen TOPMed
rs539637230 CA7619048	165	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA392907773 rs1567338408	167	N>Y		No	ClinGen Ensembl
rs762177740 CA7619049	171	R>*		No	ClinGen ExAC gnomAD
rs762177740 CA392907816	171	R>G		No	ClinGen ExAC gnomAD
rs765754510 CA7619050	173	C>S		No	ClinGen ExAC gnomAD
CA7619051 rs192713664	174	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	175	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1596215622 CA392907872	175	L>S		No	ClinGen Ensembl
CA392907905 rs1250156955	178	E>K		No	ClinGen gnomAD
TCGA novel	178	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392908401 rs1172332395	179	S>C		No	ClinGen TOPMed
rs746498079 CA7619067	181	Y>H		No	ClinGen ExAC gnomAD
CA392908443 rs773845502	185	H>P		No	ClinGen ExAC gnomAD
rs773845502 CA7619069	185	H>R		No	ClinGen ExAC gnomAD
CA7619071 rs533257022	190	M>R		No	ClinGen 1000Genomes ExAC gnomAD
CA7619070 rs533257022	190	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1414354631 CA392908484	190	M>V		No	ClinGen TOPMed
rs1255428555 CA392908507	191	M>I		No	ClinGen gnomAD
CA392908515 rs1404427048	192	Y>H		No	ClinGen gnomAD
CA392908533 rs1485392707	193	F>V		No	ClinGen gnomAD
rs374106421 CA271599238	195	Q>H		No	ClinGen ESP TOPMed
rs201414320 CA7619073	196	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA392908614 rs1427096845	199	V>A		No	ClinGen TOPMed gnomAD
rs1194648291 CA392908626	200	V>A		No	ClinGen TOPMed
rs375424240 CA7619074	201	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7619075 rs752900123	202	T>A		No	ClinGen ExAC gnomAD
rs756213896 CA7619076	202	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	204	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7619077 rs201998821	204	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs923167467 CA271599284	207	I>F		No	ClinGen TOPMed
rs967233467 CA271599294	207	I>T		No	ClinGen TOPMed gnomAD
rs923167467 CA392908707	207	I>V		No	ClinGen TOPMed
CA271599301 rs933155816	210	T>A		No	ClinGen Ensembl
rs757189861 CA7619079	210	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1596216242 CA392908750	211	T>A		No	ClinGen Ensembl
rs778632006 CA7619080	211	T>M		No	ClinGen ExAC gnomAD
rs570046325 CA7619082	213	P>L	Variant assessed as Somatic; 9.283e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1448086198 CA392908783	214	V>L		No	ClinGen TOPMed
rs1278459977 CA392908823	217	S>F		No	ClinGen gnomAD
rs1360298607 CA392908847	219	I>M		No	ClinGen TOPMed
CA392908850 rs1289531532	220	Q>E		No	ClinGen gnomAD
CA7619100 rs761931146	224	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA271603575 rs993630790	224	R>S		No	ClinGen Ensembl
CA392909486 rs1596219116	229	F>S		No	ClinGen Ensembl
CA392909498 rs1175820817	231	I>V		No	ClinGen gnomAD
rs758202721 CA7619103	233	G>S		No	ClinGen ExAC gnomAD
CA392909531 rs1477465992	234	T>A		No	ClinGen gnomAD
rs1322554485 CA392909534	234	T>N		No	ClinGen Ensembl
CA7619105 rs372332781	235	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1158327844 CA392909574	237	E>D		No	ClinGen gnomAD
CA7619106 rs754712949	237	E>G		No	ClinGen ExAC TOPMed gnomAD
CA271603665 rs780796243	239	Q>*		No	ClinGen ExAC gnomAD
rs1336762574 CA392909610	239	Q>H		No	ClinGen TOPMed
CA7619107 rs780796243	239	Q>K		No	ClinGen ExAC gnomAD
rs916718280 CA271603677	239	Q>R		No	ClinGen TOPMed
CA7619108 rs199819573	243	V>L		No	ClinGen ExAC TOPMed gnomAD
CA392909649 rs199819573	243	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7619111 rs375827057	244	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs769465556 CA7619109	244	V>F		No	ClinGen ExAC TOPMed gnomAD
rs769465556 CA7619110	244	V>I		No	ClinGen ExAC TOPMed gnomAD
CA392909727 rs150458022	250	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7619114 rs576191673	251	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392909747 rs1337632900	252	S>N		No	ClinGen TOPMed gnomAD
rs768844460 CA7619116	253	A>V		No	ClinGen ExAC gnomAD
rs1289546951 CA392909801	257	F>I		No	ClinGen gnomAD
rs1281276695 CA392909894	259	Y>C		No	ClinGen TOPMed
CA392909903 rs780660331	260	S>C		No	ClinGen ExAC gnomAD
CA7619134 rs780660331	260	S>F		No	ClinGen ExAC gnomAD
rs747344244 CA7619135	262	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1216748268 CA392909920	262	Y>H		No	ClinGen gnomAD
rs769077507 CA7619136	263	M>V		No	ClinGen ExAC TOPMed gnomAD
CA7619138 rs748385222	265	T>M		No	ClinGen ExAC TOPMed gnomAD
CA392909971 rs1486376489	266	C>F		No	ClinGen gnomAD
CA392909988 rs1185247607	268	D>N		No	ClinGen gnomAD
CA7619141 rs762902857	269	M>I		No	ClinGen ExAC TOPMed gnomAD
VAR_037713 CA7619140 rs2279854	269	M>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs766200645 CA7619143	270	D>E		No	ClinGen ExAC TOPMed gnomAD
rs759397239 CA7619144	271	W>R		No	ClinGen ExAC TOPMed gnomAD
rs373527522 CA7619145	273	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1209895492 CA392910587	274	L>F		No	ClinGen TOPMed gnomAD
CA392910591 rs1395162262	274	L>P		No	ClinGen TOPMed
CA7619146 rs752337662	276	W>C		No	ClinGen ExAC TOPMed gnomAD
CA7619147 rs143107393	278	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs763619140 CA7619148	278	R>H		No	ClinGen ExAC TOPMed gnomAD
rs763619140 CA7619149	278	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7619150 rs756832499	280	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1596219932 CA392910705	281	L>P		No	ClinGen Ensembl
CA392910719 rs1433288947	282	W>*		No	ClinGen gnomAD
CA7619151 rs780422519	282	W>G		No	ClinGen ExAC TOPMed gnomAD
CA392910736 rs1268748226	284	P>T		No	ClinGen TOPMed gnomAD
rs747573828 CA7619152	285	L>I		No	ClinGen ExAC gnomAD
CA392910796 rs1475066302	290	C>R		No	ClinGen TOPMed
CA392910794 rs1475066302	290	C>S		No	ClinGen TOPMed
rs755279233 CA7619153	292	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7619155 rs748332173	294	A>T		No	ClinGen ExAC gnomAD
rs1255087009 CA392910888	294	A>V		No	ClinGen gnomAD
CA392910930 rs1431616682	298	I>M		No	ClinGen gnomAD
rs1483992034 CA392910927	298	I>T		No	ClinGen TOPMed
TCGA novel	300	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7619178 rs777850690	302	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7619177 rs777850690	302	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7619180 rs375035246	303	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7619181 rs372783305	305	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1401304147 CA392911018	306	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs151201949 CA7619182	308	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760383344 CA7619184	309	R>*		No	ClinGen ExAC TOPMed gnomAD
rs768554778 CA7619185	309	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392911097 rs1396829567	314	L>W		No	ClinGen TOPMed
CA392911109 rs367653111	315	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7619187 rs367653111	315	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM329576 CA392911125 rs1274765274	317	P>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1245380515 CA392911156	320	I>V		No	ClinGen TOPMed gnomAD
CA7619189 rs749961093	322	V>F		No	ClinGen ExAC gnomAD
CA7619190 rs749961093	322	V>I		No	ClinGen ExAC gnomAD
rs1172761352 CA392911204	324	F>C		No	ClinGen TOPMed
CA7619192 rs186765496	327	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750462682 CA271605122	329	Q>H		No	ClinGen Ensembl
TCGA novel	332	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271605131 rs900253172	333	I>M		No	ClinGen TOPMed
CA271605127 rs1046241933	333	I>T		No	ClinGen Ensembl
CA7619194 rs756425080	334	M>I		No	ClinGen ExAC gnomAD
rs1475791000 CA392911312	334	M>K		No	ClinGen gnomAD
CA7619193 rs753317826	334	M>V		No	ClinGen ExAC gnomAD
rs1567341336 CA392911330	336	F>I		No	ClinGen Ensembl
rs1190686714 CA392895791	338	G>D		No	ClinGen gnomAD
rs746978806 CA7619204	339	L>V		No	ClinGen ExAC gnomAD
CA7619205 rs768267146	341	I>L		No	ClinGen ExAC gnomAD
rs776518643 CA7619206	341	I>M		No	ClinGen ExAC gnomAD
CA392895814 rs1375172539	342	N>D		No	ClinGen TOPMed gnomAD
CA392895813 COSM193958 rs1375172539	342	N>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs969154887 CA271556007	342	N>S		No	ClinGen TOPMed gnomAD
rs769410818 CA7619208	344	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772887184 CA7619209	344	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7619210 rs533555434	347	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA271556062 rs1032832846	348	K>E		No	ClinGen gnomAD
CA392895867 rs1395210871	349	Q>H		No	ClinGen TOPMed gnomAD
CA392895860 rs1225963088	349	Q>K		No	ClinGen Ensembl
CA7619211 rs765935739	350	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200829921 CA7619212	350	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA271556070 rs924133165	351	R>K		No	ClinGen TOPMed
CA7619214 rs764328609	352	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs570358225 CA7619213	352	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7619215 rs192711057	353	R>C		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs199662967 CA7619216 COSM964078	353	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA392895883 rs199662967	353	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770473810 CA271556105	354	Y>*		No	ClinGen gnomAD
rs762220982 CA271556089	354	Y>F		No	ClinGen Ensembl
TCGA novel	358	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392895922 rs1264231950	359	K>E		No	ClinGen TOPMed gnomAD

No associated diseases with Q9P035

1 regional properties for Q9P035

Type	Name	Position	InterPro Accession
domain	CS domain	5 - 94	IPR007052

Functions

		Description
EC Number	4.2.1.134	Hydro-lyases
Subcellular Localization	Endoplasmic reticulum membrane ; Multi-pass 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).
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
integral component of endoplasmic reticulum membrane	The component of the endoplasmic reticulum 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.
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.

7 GO annotations of molecular function

Name	Definition
3-hydroxy-arachidoyl-CoA dehydratase activity	Catalysis of the reaction: (R)-3-hydroxyicosanoyl-CoA <=> trans-2-icosenoyl-CoA + H2O.
3-hydroxy-behenoyl-CoA dehydratase activity	Catalysis of the reaction: (R)-3-hydroxybehenoyl-CoA <=> trans-2-docosenoyl-CoA + H2O.
3-hydroxy-lignoceroyl-CoA dehydratase activity	Catalysis of the reaction: (R)-3-hydroxylignoceroyl-CoA(4-) <=> trans-2-tetracosenoyl-CoA + H2O.
3-hydroxyacyl-CoA dehydratase activity	Catalysis of the reaction: alkene-CoA + H2O = alcohol-CoA. Substrates are crotonoyl-CoA (producing 3-hydroxyacyl-CoA) and 2,3-didehydro-pimeloyl-CoA (producing 3-hydroxypimeloyl-CoA).
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
very-long-chain 3-hydroxyacyl-CoA dehydratase activity	Catalysis of the reaction: a very-long-chain (3R)-3-hydroxyacyl-CoA = H2O + a very-long-chain trans-2,3-dehydroacyl-CoA.

10 GO annotations of biological process

Name	Definition
fatty acid elongation	The elongation of a fatty acid chain by the sequential addition of two-carbon units.
I-kappaB kinase/NF-kappaB signaling	The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription.
JNK cascade	An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell.
positive regulation by virus of viral protein levels in host cell	Any process where the infecting virus increases the levels of viral proteins in a cell.
positive regulation of viral genome replication	Any process that activates or increases the frequency, rate or extent of viral genome replication.
Rac protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Rac family of proteins switching to a GTP-bound active state.
Rho protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state.
small GTPase mediated signal transduction	The series of molecular signals in which a small monomeric GTPase relays a signal.
sphingolipid biosynthetic process	The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).
very long-chain fatty acid biosynthetic process	The chemical reactions and pathways resulting in the formation of a fatty acid which has a chain length greater than C22.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2KIP8	HACD2	Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2	Bos taurus (Bovine)	PR
Q6Y1H2	HACD2	Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2	Homo sapiens (Human)	PR
Q9D3B1	Hacd2	Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2	Mus musculus (Mouse)	PR
Q7SY06	hacd3	Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MENQVLTPHV	YWAQRHRELY	LRVELSDVQN	PAISITENVL	HFKAQGHGAK	GDNVYEFHLE
70	80	90	100	110	120
FLDLVKPEPV	YKLTQRQVNI	TVQKKVSQWW	ERLTKQEKRP	LFLAPDFDRW	LDESDAEMEL
130	140	150	160	170	180
RAKEEERLNK	LRLESEGSPE	TLTNLRKGYL	FMYNLVQFLG	FSWIFVNLTV	RFCILGKESF
190	200	210	220	230	240
YDTFHTVADM	MYFCQMLAVV	ETINAAIGVT	TSPVLPSLIQ	LLGRNFILFI	IFGTMEEMQN
250	260	270	280	290	300
KAVVFFVFYL	WSAIEIFRYS	FYMLTCIDMD	WKVLTWLRYT	LWIPLYPLGC	LAEAVSVIQS
310	320	330	340	350	360
IPIFNETGRF	SFTLPYPVKI	KVRFSFFLQI	YLIMIFLGLY	INFRHLYKQR	RRRYGQKKKK

IH