AiPD: Autoinhibited Protein Database

Q6Y1H2

Gene name	HACD2
Protein name	Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2
Names	3-hydroxyacyl-CoA dehydratase 2, HACD2, Protein-tyrosine phosphatase-like member B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:201562
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)

1-54 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-54 (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 Q6Y1H2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6Y1H2-F1	Predicted				AlphaFoldDB

157 variants for Q6Y1H2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1354534107 CA354226917	2	A>E		No	ClinGen TOPMed gnomAD
rs1354534107 CA354226915	2	A>V		No	ClinGen TOPMed gnomAD
rs958343304 CA82920167	3	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1034065745 CA82920159	3	A>V		No	ClinGen gnomAD
rs1185487869 CA354226909	4	V>L		No	ClinGen TOPMed gnomAD
rs1441850939 CA354226900	5	A>G		No	ClinGen TOPMed gnomAD
CA354226899 rs1441850939	5	A>V		No	ClinGen TOPMed gnomAD
rs756207969 CA2577927	6	A>T		No	ClinGen ExAC gnomAD
CA2577926 rs563998127	6	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354226893 rs76323937	7	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2577925 rs76323937	7	T>S		No	ClinGen ExAC TOPMed gnomAD
CA82920137 rs1010471748	8	A>E		No	ClinGen Ensembl
rs1257166996 CA354226889	8	A>T		No	ClinGen gnomAD
rs762215697 CA2577924	9	A>T		No	ClinGen ExAC TOPMed gnomAD
rs975738295 CA82920136	10	A>T		No	ClinGen TOPMed
CA82920130 rs966188875	10	A>V		No	ClinGen TOPMed gnomAD
CA2577923 rs751944112	11	K>E		No	ClinGen ExAC gnomAD
CA354226872 rs1405418647	11	K>R		No	ClinGen TOPMed
rs1389276454 CA354226866	12	G>E		No	ClinGen gnomAD
rs1041333420 CA82920125	12	G>R		No	ClinGen Ensembl
CA354226862 rs1398626340	13	N>D		No	ClinGen gnomAD
rs940386499 CA82920123	13	N>K		No	ClinGen Ensembl
rs1006897158 CA82920120	14	G>A		No	ClinGen gnomAD
CA82920121 rs1017328901 CA354226856	14	G>R		No	ClinGen TOPMed
rs764400986 CA2577922	15	G>D		No	ClinGen ExAC gnomAD
CA354226851 rs1420667322	15	G>R		No	ClinGen gnomAD
CA354226852 rs1420667322	15	G>S		No	ClinGen gnomAD
rs764400986 CA354226848	15	G>V		No	ClinGen ExAC gnomAD
rs1237413068 CA354226832	18	G>D		No	ClinGen gnomAD
CA354226833 rs1438030333	18	G>S		No	ClinGen gnomAD
rs1469603646 CA354226825	19	R>M		No	ClinGen gnomAD
CA354226822 rs770404869	20	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2577917 rs770404869	20	A>S		No	ClinGen ExAC TOPMed gnomAD
CA354226818 rs1209127115	20	A>V		No	ClinGen gnomAD
rs1280768729 CA354226817	21	G>R		No	ClinGen gnomAD
rs1375673462 CA354226811	22	A>T		No	ClinGen gnomAD
rs1397088165 CA354226805	23	G>R		No	ClinGen gnomAD
CA354226800 rs1322170823	23	G>V		No	ClinGen gnomAD
rs903219191 CA82919994	25	A>D		No	ClinGen TOPMed
CA82919989 rs1046155906	26	S>R		No	ClinGen TOPMed gnomAD
rs1405267630 CA354226782	26	S>T		No	ClinGen gnomAD
rs1364766166 CA354226779	27	G>S		No	ClinGen TOPMed
CA354226768 rs1160367797	28	T>M		No	ClinGen TOPMed gnomAD
rs751244609 CA82919964	29	R>G		No	ClinGen TOPMed gnomAD
rs1194432814 CA354226766	29	R>Q		No	ClinGen gnomAD
CA354226767 rs751244609	29	R>W		No	ClinGen TOPMed gnomAD
CA82919957 rs1037232646	31	K>N		No	ClinGen Ensembl
rs748046625 CA354226731	34	P>L		No	ClinGen ExAC gnomAD
rs748046625 CA2577913	34	P>Q		No	ClinGen ExAC gnomAD
CA354226730 rs748046625	34	P>R		No	ClinGen ExAC gnomAD
TCGA novel	35	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs950041598 CA82919944	36	P>L		No	ClinGen TOPMed
CA354226721 rs1424710460	36	P>S		No	ClinGen TOPMed
rs1285809148 CA354226713	38	A>T		No	ClinGen gnomAD
CA354226708 rs1213837466	38	A>V		No	ClinGen gnomAD
CA354226678 rs1235977278	43	V>A		No	ClinGen gnomAD
CA2577909 rs780321212	44	I>V		No	ClinGen ExAC gnomAD
rs1370179713 CA354226658	46	N>S		No	ClinGen gnomAD
CA354226652 rs1436481950	47	V>M		No	ClinGen gnomAD
CA354226636 rs1327518419	49	M>I		No	ClinGen gnomAD
rs1320787929 CA354226628	50	T>I		No	ClinGen gnomAD
CA82919912 rs918193664	52	G>R		No	ClinGen TOPMed
CA354226601 rs1421323359	53	W>*		No	ClinGen gnomAD
rs1418033354 CA354226572	57	A>V		No	ClinGen gnomAD
CA354226571 rs1481956035	58	V>I		No	ClinGen gnomAD
rs1236540945 CA354226558	60	L>V		No	ClinGen gnomAD
rs1204730931 CA354226548	62	R>*		No	ClinGen gnomAD
CA2577899 COSM1222513 rs753498940	62	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1260373468 CA354226531	64	Y>*		No	ClinGen gnomAD
rs1576251106 CA354226534	64	Y>S		No	ClinGen Ensembl
rs1217383596 CA354226511	68	G>S		No	ClinGen gnomAD
rs1044868434 CA82918175	69	S>G		No	ClinGen Ensembl
CA354226488 rs1230101731	71	H>Y		No	ClinGen gnomAD
CA2577897 rs760148302	72	S>G		No	ClinGen ExAC gnomAD
rs1315084541 CA354226475	73	L>I		No	ClinGen TOPMed
CA2577896 rs760203086	77	I>F		No	ClinGen ExAC TOPMed gnomAD
CA2577895 rs760203086	77	I>V		No	ClinGen ExAC TOPMed gnomAD
CA354226429 rs1222198218	79	K>N		No	ClinGen gnomAD
CA2577894 rs761859365	79	K>R		No	ClinGen ExAC gnomAD
CA2577893 rs774420049	83	F>L		No	ClinGen ExAC gnomAD
CA354226401 rs1559939528	83	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs768641838 CA2577892	85	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA354226380 rs1166927971	86	T>S		No	ClinGen gnomAD
TCGA novel	87	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201451076 CA354226360	89	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354360165 rs1487788652	92	I>F		No	ClinGen gnomAD
rs1333206814 CA354360150	94	H>P		No	ClinGen TOPMed
rs769409686 CA2577870	96	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1323335165 CA354360128	97	I>M		No	ClinGen TOPMed
rs776818290 CA2577868	97	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2577869 rs746115507	97	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1576752803 CA354357427	104	V>L		No	ClinGen Ensembl
rs771975073 CA2577843	107	T>N		No	ClinGen ExAC gnomAD
rs779287470 CA2577841	109	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1332456218 CA354357321	112	M>L		No	ClinGen gnomAD
CA354357309 rs1467698772	113	S>P		No	ClinGen gnomAD
rs755413416 CA2577840	115	V>I		No	ClinGen ExAC gnomAD
CA354357214 rs1370241649	120	A>P		No	ClinGen gnomAD
rs749651424 CA354357156	124	S>R		No	ClinGen ExAC TOPMed gnomAD
rs202187144 CA2577838 COSM1222514	125	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs969715983 CA82674349	128	V>I		No	ClinGen TOPMed gnomAD
rs969715983 CA354361898	128	V>L		No	ClinGen TOPMed gnomAD
rs1488737312 CA354361891	129	Q>R		No	ClinGen TOPMed
CA354361882 rs1308974718	130	S>N		No	ClinGen gnomAD
rs757965940 CA2577814	132	D>G		No	ClinGen ExAC gnomAD
rs772337479 CA2577815	132	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1322085755 CA354361863	133	S>G		No	ClinGen gnomAD
rs376091382 CA2577813	134	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs187536577 CA2577811	139	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1172940372 CA354361819	140	A>P		No	ClinGen gnomAD
CA82674305 rs759685166	142	T>M		No	ClinGen TOPMed gnomAD
CA2577808 rs760461596	144	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA354361780 rs1369315313	146	I>V		No	ClinGen TOPMed
CA82674292 rs998954069	148	R>H		No	ClinGen gnomAD
CA354361737 rs1198174555	152	Y>D		No	ClinGen gnomAD
TCGA novel	157	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA82674281 rs998759673	158	N>S		No	ClinGen Ensembl
CA354361638 rs1273614263	166	W>S		No	ClinGen gnomAD
rs767616459 CA2577806	167	A>G		No	ClinGen ExAC gnomAD
rs1266151659 CA354361509	169	Y>H		No	ClinGen TOPMed
rs551524227 CA2577790	173	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2577789 rs370361667	175	L>P		No	ClinGen ESP ExAC gnomAD
TCGA novel	176	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1471598392 CA354361388	179	G>R		No	ClinGen gnomAD
rs767305204 CA2577787	180	V>A		No	ClinGen ExAC TOPMed gnomAD
rs750212186 CA2577788	180	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	181	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	182	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1576726526 CA354361335	184	L>M		No	ClinGen Ensembl
CA354361117 rs1314564712	203	S>N		No	ClinGen gnomAD
TCGA novel	207	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2577783 rs377706797	209	N>S		No	ClinGen ESP ExAC TOPMed
TCGA novel	212	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2577782 rs776178578	215	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	220	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2577781 rs765817322	220	L>V		No	ClinGen ExAC gnomAD
rs1392068761 CA354360956	221	I>T		No	ClinGen TOPMed
rs1353736951 CA354360914	227	P>T		No	ClinGen TOPMed gnomAD
rs1428766752 CA354360892	228	I>S		No	ClinGen gnomAD
CA354360879 rs1194482771	230	P>H		No	ClinGen gnomAD
rs34131865	231	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354360814 rs1261328475	238	H>Q		No	ClinGen gnomAD
rs1204732954 CA354360811	239	Q>*		No	ClinGen gnomAD
rs867150647 CA82671226	239	Q>H		No	ClinGen Ensembl
CA354360786 rs768324602	242	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1007756980 CA82671225	245	S>F		No	ClinGen TOPMed gnomAD
rs1322721310 CA354360761	246	H>P		No	ClinGen gnomAD
rs1278703757 CA354360757	247	T>A		No	ClinGen gnomAD
rs748902443 CA2577755	247	T>N		No	ClinGen ExAC gnomAD
rs1342702893 CA354360749	248	E>A		No	ClinGen TOPMed
rs868234354 CA82671221	249	E>*		No	ClinGen gnomAD
rs868234354 CA354360745	249	E>K		No	ClinGen gnomAD
CA82671220 rs867980709	250	H>Q		No	ClinGen Ensembl
rs377404803 CA2577754	250	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1277134034 CA354360728	251	K>R		No	ClinGen TOPMed
rs1403426310 CA354360707	254	E>Q		No	ClinGen gnomAD
TCGA novel	255	E>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q6Y1H2

No regional properties for Q6Y1H2

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q6Y1H2

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

3 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 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.

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).
3R-hydroxyacyl-CoA dehydratase activity	Catalysis of the reaction: 3R-hydroxyacyl-CoA = 2E-enoyl-CoA + H2O.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
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.

4 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.
long-chain fatty-acyl-CoA biosynthetic process	The chemical reactions and pathways resulting in the formation of a long-chain fatty-acyl-CoA any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a long-chain fatty-acyl group. Long-chain fatty-acyl-CoAs have chain lengths of C13 or more.
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
Q9P035	HACD3	Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3	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
MAAVAATAAA	KGNGGGGGRA	GAGDASGTRK	KKGPGPLATA	YLVIYNVVMT	AGWLVIAVGL
70	80	90	100	110	120
VRAYLAKGSY	HSLYYSIEKP	LKFFQTGALL	EILHCAIGIV	PSSVVLTSFQ	VMSRVFLIWA
130	140	150	160	170	180
VTHSVKEVQS	EDSVLLFVIA	WTITEIIRYS	FYTFSLLNHL	PYLIKWARYT	LFIVLYPMGV
190	200	210	220	230	240
SGELLTIYAA	LPFVRQAGLY	SISLPNKYNF	SFDYYAFLIL	IMISYIPIFP	QLYFHMIHQR
250
RKILSHTEEH	KKFE