AiPD: Autoinhibited Protein Database

Q9BW60

Gene name	ELOVL1
Protein name	Elongation of very long chain fatty acids protein 1
Names	3-keto acyl-CoA synthase ELOVL1, ELOVL fatty acid elongase 1, ELOVL FA elongase 1, Very long chain 3-ketoacyl-CoA synthase 1, Very long chain 3-oxoacyl-CoA synthase 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64834
EC number	2.3.1.199: Transferring groups other than amino-acyl groups
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

225-279 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

225-279 (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 Q9BW60

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BW60-F1	Predicted				AlphaFoldDB

163 variants for Q9BW60

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_083193 CA340015330 RCV000808178 rs1570486718 RCV001856252	165	S>F	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features IKSHD; loss of fatty acid elongase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar Ensembl dbSNP UniProt
rs1333846976 CA340018548	2	E>*		No	ClinGen TOPMed
rs1389271429 CA340018487	4	V>F		No	ClinGen gnomAD
CA807735 rs111698274	5	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	6	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA807732 rs766780019	12	M>T		No	ClinGen ExAC gnomAD
CA340018314 rs1175614355	12	M>V		No	ClinGen gnomAD
CA21624857 rs753516275	15	A>S		No	ClinGen ExAC TOPMed gnomAD
CA807730 rs753516275	15	A>T		No	ClinGen ExAC TOPMed gnomAD
CA807702 rs772913569	17	P>S		No	ClinGen ExAC gnomAD
rs1316122205 CA340018052	18	R>Q		No	ClinGen TOPMed gnomAD
rs1360772987 COSM909763 CA340018060	18	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1476922456 CA340018044	19	I>L		No	ClinGen gnomAD
CA340017977 rs1381478837	21	G>D		No	ClinGen TOPMed
CA340017964 rs1570488670	22	Y>H		No	ClinGen Ensembl
TCGA novel	23	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340017930 rs1360900026	23	P>S		No	ClinGen gnomAD
CA807700 rs370638221	26	G>R		No	ClinGen ESP ExAC gnomAD
CA340017827 rs1383621352	27	S>F		No	ClinGen gnomAD
rs370510277 CA807698	28	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA340017810 rs1342047454	28	P>L		No	ClinGen TOPMed
CA807696 rs780578381	32	T>N		No	ClinGen ExAC gnomAD
rs1287132991 CA340017723	33	S>F		No	ClinGen gnomAD
CA807694 rs750748004	34	I>V		No	ClinGen ExAC gnomAD
rs937682878 CA340017705	35	L>F		No	ClinGen TOPMed gnomAD
CA21624684 rs937682878	35	L>V		No	ClinGen TOPMed gnomAD
CA340017624 rs1380708716	39	V>M		No	ClinGen gnomAD
CA340017570 rs1341061277	42	V>I		No	ClinGen gnomAD
rs142106087 CA21624676	43	L>P		No	ClinGen ESP gnomAD
CA340017498 rs1236713886	45	L>F		No	ClinGen gnomAD
CA807691 rs752347198	47	P>R		No	ClinGen ExAC gnomAD
rs767218638 CA807690	48	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1205218 rs754465886 CA807689	48	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA807688 rs751073844	49	I>F		No	ClinGen ExAC gnomAD
rs751073844 CA340017435	49	I>V		No	ClinGen ExAC gnomAD
rs1184868893 CA340017395	51	A>T		No	ClinGen gnomAD
CA340017365 rs1203825436	52	N>S		No	ClinGen TOPMed
CA807685 rs773003850	53	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA807686 rs201270403	53	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs765129030 CA807684	56	F>L		No	ClinGen ExAC gnomAD
rs1489954444 CA340017240	59	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA21624643 rs769555812	59	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA21624637 rs143854596	60	G>A		No	ClinGen ESP TOPMed
rs761758758 CA807683	60	G>S		No	ClinGen ExAC TOPMed gnomAD
CA807682 rs776970798	63	I>T		No	ClinGen ExAC gnomAD
rs1425686249 CA340017162	63	I>V		No	ClinGen TOPMed
TCGA novel	67	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775452198 CA807679	68	S>*		No	ClinGen ExAC gnomAD
rs769038287 CA807681	68	S>A		No	ClinGen ExAC TOPMed gnomAD
rs775452198 CA807680	68	S>L		No	ClinGen ExAC gnomAD
CA21624626 rs913667405	70	V>E		No	ClinGen Ensembl
CA340017012 rs1369051240	71	A>T		No	ClinGen TOPMed
rs772569715 CA340016987	72	L>F		No	ClinGen ExAC gnomAD
rs772569715 CA807678	72	L>V		No	ClinGen ExAC gnomAD
rs779536615 CA807676	75	Y>C		No	ClinGen ExAC gnomAD
CA340016948 rs1403072143	75	Y>N		No	ClinGen gnomAD
rs988970942 CA21624614	78	Y>C		No	ClinGen TOPMed gnomAD
rs934042405 CA21624490	80	F>L		No	ClinGen TOPMed
CA807655 rs771471495	82	M>I		No	ClinGen ExAC gnomAD
rs530810034 CA340016744	82	M>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1480242292 CA340016738	82	M>T		No	ClinGen TOPMed
rs530810034 CA807656	82	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA340016701 rs1457980380	83	S>L		No	ClinGen gnomAD
CA340016677 rs1201234379	84	G>D		No	ClinGen gnomAD
TCGA novel	87	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs112685758 CA21624475	87	S>G		No	ClinGen Ensembl
TCGA novel	91	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA807652 rs754568659	91	W>L		No	ClinGen ExAC gnomAD
rs746646318 CA807651	92	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA807650 rs556817698	92	R>H		No	ClinGen ExAC TOPMed gnomAD
CA21624455 rs556817698	92	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	94	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs11558089 CA340016385	96	V>A		No	ClinGen gnomAD
CA21624451 rs11558089	96	V>G		No	ClinGen gnomAD
rs1055046913 CA21624450	99	S>F		No	ClinGen Ensembl
rs1394389268 CA340016339	100	N>D		No	ClinGen gnomAD
CA340016318 rs1415826596	101	S>N		No	ClinGen TOPMed
rs749989032 CA807648	105	L>R		No	ClinGen ExAC gnomAD
rs1213708877 CA340016149	107	M>I		No	ClinGen gnomAD
CA807631 rs369601555	109	R>Q		No	ClinGen ESP ExAC gnomAD
COSM1342801 rs201783931 CA807632	109	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1351965077 CA340016096	111	A>S		No	ClinGen TOPMed
rs1489131857 CA340016054	113	L>F		No	ClinGen gnomAD
rs1489131857 CA340016056	113	L>V		No	ClinGen gnomAD
rs1288509895 CA340015964	118	K>Q		No	ClinGen TOPMed
rs778576644 CA807628	121	E>G		No	ClinGen ExAC gnomAD
CA807627 rs757190378	123	M>T		No	ClinGen ExAC gnomAD
rs1338798247 CA340015859	125	T>P		No	ClinGen TOPMed
rs748852224 CA340015695	131	R>*		No	ClinGen ExAC gnomAD
rs1332091166 CA340015692	131	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA340015625 rs1437759233	134	D>G		No	ClinGen gnomAD
CA807605 rs747851736	135	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1445993941 CA340015571	137	V>L		No	ClinGen TOPMed
rs1467060113 CA340015531	139	F>L		No	ClinGen gnomAD
rs1171729390 CA340015512	141	H>R		No	ClinGen gnomAD
rs141898493 CA807602	152	W>*		No	ClinGen ESP ExAC gnomAD
CA21624143 rs879643078	153	W>S		No	ClinGen TOPMed
rs1195724894 CA340015417	154	W>S		No	ClinGen gnomAD
rs766646156 CA807601	156	V>I		No	ClinGen ExAC gnomAD
rs1459446829 CA340015377	160	P>L		No	ClinGen gnomAD
rs1374338567 CA340015322	166	F>L		No	ClinGen TOPMed
CA807581 rs780209491	169	M>V		No	ClinGen ExAC gnomAD
CA21624068 rs748707708	174	V>L		No	ClinGen TOPMed gnomAD
CA21624070 rs748707708	174	V>M		No	ClinGen TOPMed gnomAD
CA807578 rs571173066	175	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1443449516 CA340015159	177	I>T		No	ClinGen TOPMed
CA21624052 rs1029930312	177	I>V		No	ClinGen TOPMed
CA807577 rs757345481	178	M>I		No	ClinGen ExAC gnomAD
rs761086443 CA807574	185	S>F		No	ClinGen ExAC TOPMed gnomAD
CA21624034 rs11558088	188	G>V		No	ClinGen Ensembl
CA21624022 rs1036945812	191	A>T		No	ClinGen TOPMed
CA340014947 rs1360068839	192	Q>R		No	ClinGen gnomAD
rs977033100 CA21624017	193	P>T		No	ClinGen Ensembl
CA340014938 rs1477180478	194	Y>H		No	ClinGen TOPMed
CA21624011 rs939999689	198	K>R		No	ClinGen Ensembl
TCGA novel	199	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772533745 CA807570	201	M>L		No	ClinGen ExAC gnomAD
CA340013160 rs1570486481	202	T>P		No	ClinGen Ensembl
rs1557476421 CA340013137	204	I>L		No	ClinGen Ensembl
rs751690290 CA21624004	205	Q>*		No	ClinGen Ensembl
rs548723000 CA807550	207	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA21623889 rs201713271	211	L>V		No	ClinGen Ensembl
rs1213988022 CA340012835	212	V>A		No	ClinGen gnomAD
CA807548 rs528560413	213	S>P		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	215	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148116955 CA807544	217	S>C		No	ClinGen ESP ExAC
rs1396770846 CA340012647	220	Y>C		No	ClinGen gnomAD
CA807542 rs141545551 CA340012582	222	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA21623862 rs146901172	223	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA807541 rs146901172	223	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA340012409 rs1265456724	228	Q>P		No	ClinGen TOPMed
rs1171266579 CA340012341	231	V>F		No	ClinGen TOPMed
CA807537 rs570840404	233	I>V		No	ClinGen ExAC gnomAD
rs781779606 CA340012279	234	H>Q		No	ClinGen ExAC gnomAD
CA21623852 rs866026902	237	W>L		No	ClinGen Ensembl
CA340012208 rs1456142273	238	M>I		No	ClinGen TOPMed
CA340012177 rs1157699845	240	G>D		No	ClinGen Ensembl
rs764905013 CA807533	241	T>P		No	ClinGen ExAC gnomAD
rs753277637 CA807531	242	I>M		No	ClinGen ExAC gnomAD
rs11558091 CA21623836	242	I>T		No	ClinGen Ensembl
CA807532 rs761384500	242	I>V		No	ClinGen ExAC gnomAD
rs1557476095 CA340012137	243	F>I		No	ClinGen Ensembl
CA807530 rs372086459	244	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA21623830 rs768851320	244	F>L		No	ClinGen Ensembl
rs1301789242 CA340012104	245	M>L		No	ClinGen gnomAD
rs1301789242 CA340012105	245	M>V		No	ClinGen gnomAD
rs1373469519 CA340012075	249	N>S		No	ClinGen gnomAD
CA340012044 rs1446156866	253	H>Y		No	ClinGen gnomAD
rs759332122 CA807526	260	R>W		No	ClinGen ExAC gnomAD
CA340011991 rs1436154176	261	L>M		No	ClinGen gnomAD
CA807523 rs532979031	263	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532979031 CA340011980	263	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1342800 rs1177680519 CA340011979	263	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA807524 rs532979031	263	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA807522 rs773639085	264	A>T		No	ClinGen ExAC gnomAD
rs769982072 CA807521	266	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs970569989 CA21623802	272	G>R		No	ClinGen Ensembl
CA340011920 rs1353196094	272	G>V		No	ClinGen TOPMed
CA340011905 rs1212788283	275	K>E		No	ClinGen gnomAD
rs781755302 CA807519	276	V>A		No	ClinGen ExAC gnomAD
CA21623789 rs200400885	276	V>I		No	ClinGen gnomAD
rs755471252 CA807518	278	A>V		No	ClinGen ExAC gnomAD
CA21623770 rs1024845378	279	N>S		No	ClinGen TOPMed

1 associated diseases with Q9BW60

[MIM: 618527]: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies (IKSHD)

An autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features. {ECO:0000269|PubMed:29496980, ECO:0000269|PubMed:30487246}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features. {ECO:0000269|PubMed:29496980, ECO:0000269|PubMed:30487246}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q9BW60

Type	Name	Position	InterPro Accession
conserved_site	ELO family, conserved site	137 - 145	IPR030457

Functions

		Description
EC Number	2.3.1.199	Transferring groups other than amino-acyl groups
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).
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

5 GO annotations of molecular function

Name	Definition
3-oxo-arachidoyl-CoA synthase activity	Catalysis of the reaction: stearoyl-CoA(4-) + malonyl-CoA(5-) + H+ <=> 3-oxoicosanoyl-CoA. + carbon dioxide + coenzyme A.
3-oxo-cerotoyl-CoA synthase activity	Catalysis of the reaction: tetracosanoyl-CoA(4-) + malonyl-CoA(5-) + H+ <=> 3-oxohexacosanoyl-CoA + carbon dioxide + coenzyme A.
3-oxo-lignoceronyl-CoA synthase activity	Catalysis of the reaction: behenoyl-CoA(4-) + malonyl-CoA(5-) + H+ <=> 3-oxotetracosanoyl-CoA. + carbon dioxide + coenzyme A.
fatty acid elongase activity	Catalysis of the reaction: fatty acid (C-16 or longer) + 2-C = fatty acid (C-16 or longer + 2-C).
very-long-chain 3-ketoacyl-CoA synthase activity	Catalysis of the reaction: malonyl-CoA + a very-long-chain 2,3,4-saturated fatty acyl CoA = carbon dioxide + coenzyme A + a very-long-chain oxoacyl-CoA.

11 GO annotations of biological process

Name	Definition
alpha-linolenic acid metabolic process	The chemical reactions and pathways involving alpha-linolenic acid, an unsaturated omega-6 fatty acid that has the molecular formula C18H32O2.
ceramide biosynthetic process	The chemical reactions and pathways resulting in the formation of ceramides, any N-acylated sphingoid.
establishment of skin barrier	Establishment of the epithelial barrier, the functional barrier in the skin that limits its permeability.
fatty acid elongation, monounsaturated fatty acid	Elongation of a fatty acid chain into which one C-C double bond has been introduced.
fatty acid elongation, polyunsaturated fatty acid	Elongation of a fatty acid chain into which two or more C-C double bonds have been introduced.
fatty acid elongation, saturated fatty acid	Elongation of a saturated fatty acid chain.
linoleic acid metabolic process	The chemical reactions and pathways involving linoleic acid, an unsaturated omega-6 fatty acid that has the molecular formula C18H32O2.
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).
unsaturated fatty acid biosynthetic process	The chemical reactions and pathways resulting in the formation of an unsaturated fatty acid, any fatty acid containing one or more double bonds between carbon atoms.
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
A1L3X0	ELOVL7	Elongation of very long chain fatty acids protein 7	Homo sapiens (Human)	PR
Q9D2Y9	Elovl7	Elongation of very long chain fatty acids protein 7	Mus musculus (Mouse)	PR
Q9JLJ5	Elovl1	Elongation of very long chain fatty acids protein 1	Mus musculus (Mouse)	PR
Q3S8M4	ELOVL4	Elongation of very long chain fatty acids protein 4	Macaca mulatta (Rhesus macaque)	PR

10	20	30	40	50	60
MEAVVNLYQE	VMKHADPRIQ	GYPLMGSPLL	MTSILLTYVY	FVLSLGPRIM	ANRKPFQLRG
70	80	90	100	110	120
FMIVYNFSLV	ALSLYIVYEF	LMSGWLSTYT	WRCDPVDYSN	SPEALRMVRV	AWLFLFSKFI
130	140	150	160	170	180
ELMDTVIFIL	RKKDGQVTFL	HVFHHSVLPW	SWWWGVKIAP	GGMGSFHAMI	NSSVHVIMYL
190	200	210	220	230	240
YYGLSAFGPV	AQPYLWWKKH	MTAIQLIQFV	LVSLHISQYY	FMSSCNYQYP	VIIHLIWMYG
250	260	270
TIFFMLFSNF	WYHSYTKGKR	LPRALQQNGA	PGIAKVKAN