Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64834
Gene name	ELOVL fatty acid elongase 1
Gene symbol	ELOVL1
Synonyms (NCBI Gene)	CGI-88IKSHDSsc1
Chromosome	1
Chromosome location	1p34.2

260

Show/Hide all (260)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002696	hsa-miR-124-3p	Microarray	15685193
MIRT002696	hsa-miR-124-3p	Microarray	18668037
MIRT002696	hsa-miR-124-3p	Microarray	15685193
MIRT024485	hsa-miR-215-5p	Microarray	19074876
MIRT026598	hsa-miR-192-5p	Microarray	19074876
MIRT031693	hsa-miR-16-5p	Proteomics	18668040
MIRT032337	hsa-let-7b-5p	Proteomics	18668040
MIRT042165	hsa-miR-484	CLASH	23622248
MIRT039565	hsa-miR-652-3p	CLASH	23622248
MIRT037904	hsa-miR-455-3p	CLASH	23622248
MIRT477456	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT477455	hsa-miR-6815-5p	PAR-CLIP	23592263
MIRT477454	hsa-miR-6865-5p	PAR-CLIP	23592263
MIRT477453	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT477452	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT477451	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT477450	hsa-miR-4306	PAR-CLIP	23592263
MIRT477449	hsa-miR-4644	PAR-CLIP	23592263
MIRT477448	hsa-miR-5192	PAR-CLIP	23592263
MIRT477447	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT477446	hsa-miR-6802-5p	PAR-CLIP	23592263
MIRT477445	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT477444	hsa-miR-5587-5p	PAR-CLIP	23592263
MIRT477456	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT477455	hsa-miR-6815-5p	PAR-CLIP	23592263
MIRT477454	hsa-miR-6865-5p	PAR-CLIP	23592263
MIRT477453	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT477452	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT477451	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT477450	hsa-miR-4306	PAR-CLIP	23592263
MIRT477449	hsa-miR-4644	PAR-CLIP	23592263
MIRT477448	hsa-miR-5192	PAR-CLIP	23592263
MIRT477447	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT477446	hsa-miR-6802-5p	PAR-CLIP	23592263
MIRT477445	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT477444	hsa-miR-5587-5p	PAR-CLIP	23592263
MIRT961141	hsa-miR-1207-5p	CLIP-seq
MIRT961142	hsa-miR-122	CLIP-seq
MIRT961143	hsa-miR-129-3p	CLIP-seq
MIRT961144	hsa-miR-1321	CLIP-seq
MIRT961145	hsa-miR-1324	CLIP-seq
MIRT961146	hsa-miR-185	CLIP-seq
MIRT961147	hsa-miR-3120-3p	CLIP-seq
MIRT961148	hsa-miR-3150a-3p	CLIP-seq
MIRT961149	hsa-miR-3166	CLIP-seq
MIRT961150	hsa-miR-3175	CLIP-seq
MIRT961151	hsa-miR-331-3p	CLIP-seq
MIRT961152	hsa-miR-361-3p	CLIP-seq
MIRT961153	hsa-miR-3908	CLIP-seq
MIRT961154	hsa-miR-3943	CLIP-seq
MIRT961155	hsa-miR-4254	CLIP-seq
MIRT961156	hsa-miR-4267	CLIP-seq
MIRT961157	hsa-miR-4270	CLIP-seq
MIRT961158	hsa-miR-4292	CLIP-seq
MIRT961159	hsa-miR-4308	CLIP-seq
MIRT961160	hsa-miR-4323	CLIP-seq
MIRT961161	hsa-miR-4441	CLIP-seq
MIRT961162	hsa-miR-4633-3p	CLIP-seq
MIRT961163	hsa-miR-4640-5p	CLIP-seq
MIRT961164	hsa-miR-4716-3p	CLIP-seq
MIRT961165	hsa-miR-4717-5p	CLIP-seq
MIRT961166	hsa-miR-4726-5p	CLIP-seq
MIRT961167	hsa-miR-4728-5p	CLIP-seq
MIRT961168	hsa-miR-4739	CLIP-seq
MIRT961169	hsa-miR-4756-5p	CLIP-seq
MIRT961170	hsa-miR-4763-3p	CLIP-seq
MIRT961171	hsa-miR-491-5p	CLIP-seq
MIRT961172	hsa-miR-516b	CLIP-seq
MIRT961173	hsa-miR-625	CLIP-seq
MIRT961174	hsa-miR-939	CLIP-seq
MIRT961175	hsa-miR-940	CLIP-seq
MIRT1984806	hsa-miR-147	CLIP-seq
MIRT1984807	hsa-miR-1910	CLIP-seq
MIRT1984808	hsa-miR-1915	CLIP-seq
MIRT1984809	hsa-miR-3151	CLIP-seq
MIRT1984810	hsa-miR-342-5p	CLIP-seq
MIRT1984811	hsa-miR-3911	CLIP-seq
MIRT1984812	hsa-miR-3977	CLIP-seq
MIRT1984813	hsa-miR-4276	CLIP-seq
MIRT1984814	hsa-miR-4302	CLIP-seq
MIRT1984815	hsa-miR-4447	CLIP-seq
MIRT1984816	hsa-miR-4472	CLIP-seq
MIRT1984817	hsa-miR-4651	CLIP-seq
MIRT1984818	hsa-miR-4664-5p	CLIP-seq
MIRT1984819	hsa-miR-4726-3p	CLIP-seq
MIRT961171	hsa-miR-491-5p	CLIP-seq
MIRT1984820	hsa-miR-608	CLIP-seq
MIRT1984821	hsa-miR-644	CLIP-seq
MIRT1984822	hsa-miR-765	CLIP-seq
MIRT2219689	hsa-miR-1200	CLIP-seq
MIRT2219690	hsa-miR-128	CLIP-seq
MIRT1984806	hsa-miR-147	CLIP-seq
MIRT2219691	hsa-miR-1827	CLIP-seq
MIRT2219692	hsa-miR-18a	CLIP-seq
MIRT2219693	hsa-miR-18b	CLIP-seq
MIRT1984807	hsa-miR-1910	CLIP-seq
MIRT2219694	hsa-miR-208a	CLIP-seq
MIRT2219695	hsa-miR-208b	CLIP-seq
MIRT1984809	hsa-miR-3151	CLIP-seq
MIRT2219696	hsa-miR-3157-3p	CLIP-seq
MIRT2219697	hsa-miR-3178	CLIP-seq
MIRT1984810	hsa-miR-342-5p	CLIP-seq
MIRT2219698	hsa-miR-3617	CLIP-seq
MIRT2219699	hsa-miR-3672	CLIP-seq
MIRT1984811	hsa-miR-3911	CLIP-seq
MIRT1984813	hsa-miR-4276	CLIP-seq
MIRT1984814	hsa-miR-4302	CLIP-seq
MIRT2219700	hsa-miR-4324	CLIP-seq
MIRT1984815	hsa-miR-4447	CLIP-seq
MIRT2219701	hsa-miR-4463	CLIP-seq
MIRT1984816	hsa-miR-4472	CLIP-seq
MIRT2219702	hsa-miR-4649-3p	CLIP-seq
MIRT1984817	hsa-miR-4651	CLIP-seq
MIRT1984818	hsa-miR-4664-5p	CLIP-seq
MIRT2219703	hsa-miR-4731-3p	CLIP-seq
MIRT2219704	hsa-miR-4735-3p	CLIP-seq
MIRT2219705	hsa-miR-4801	CLIP-seq
MIRT961171	hsa-miR-491-5p	CLIP-seq
MIRT2219706	hsa-miR-499-5p	CLIP-seq
MIRT2219707	hsa-miR-541	CLIP-seq
MIRT2219708	hsa-miR-544b	CLIP-seq
MIRT2219709	hsa-miR-566	CLIP-seq
MIRT1984820	hsa-miR-608	CLIP-seq
MIRT2219710	hsa-miR-641	CLIP-seq
MIRT1984821	hsa-miR-644	CLIP-seq
MIRT2219711	hsa-miR-654-5p	CLIP-seq
MIRT1984822	hsa-miR-765	CLIP-seq
MIRT961173	hsa-miR-625	CLIP-seq
MIRT2219689	hsa-miR-1200	CLIP-seq
MIRT2523234	hsa-miR-125a-5p	CLIP-seq
MIRT2523235	hsa-miR-125b	CLIP-seq
MIRT2219690	hsa-miR-128	CLIP-seq
MIRT2523236	hsa-miR-1294	CLIP-seq
MIRT2523237	hsa-miR-137	CLIP-seq
MIRT2523238	hsa-miR-150	CLIP-seq
MIRT2219691	hsa-miR-1827	CLIP-seq
MIRT2219692	hsa-miR-18a	CLIP-seq
MIRT2219693	hsa-miR-18b	CLIP-seq
MIRT1984807	hsa-miR-1910	CLIP-seq
MIRT2523239	hsa-miR-22	CLIP-seq
MIRT961147	hsa-miR-3120-3p	CLIP-seq
MIRT2523240	hsa-miR-3148	CLIP-seq
MIRT1984809	hsa-miR-3151	CLIP-seq
MIRT2219696	hsa-miR-3157-3p	CLIP-seq
MIRT2219697	hsa-miR-3178	CLIP-seq
MIRT2523241	hsa-miR-3182	CLIP-seq
MIRT2523242	hsa-miR-3183	CLIP-seq
MIRT2523243	hsa-miR-3194-5p	CLIP-seq
MIRT2219699	hsa-miR-3672	CLIP-seq
MIRT961153	hsa-miR-3908	CLIP-seq
MIRT2523244	hsa-miR-3915	CLIP-seq
MIRT2523245	hsa-miR-3928	CLIP-seq
MIRT961155	hsa-miR-4254	CLIP-seq
MIRT2523246	hsa-miR-4265	CLIP-seq
MIRT2523247	hsa-miR-4268	CLIP-seq
MIRT2523248	hsa-miR-4271	CLIP-seq
MIRT961158	hsa-miR-4292	CLIP-seq
MIRT2523249	hsa-miR-4296	CLIP-seq
MIRT961159	hsa-miR-4308	CLIP-seq
MIRT2523250	hsa-miR-4316	CLIP-seq
MIRT2523251	hsa-miR-4319	CLIP-seq
MIRT2523252	hsa-miR-4322	CLIP-seq
MIRT2219700	hsa-miR-4324	CLIP-seq
MIRT1984815	hsa-miR-4447	CLIP-seq
MIRT2523253	hsa-miR-4448	CLIP-seq
MIRT2219701	hsa-miR-4463	CLIP-seq
MIRT1984816	hsa-miR-4472	CLIP-seq
MIRT2523254	hsa-miR-4532	CLIP-seq
MIRT961162	hsa-miR-4633-3p	CLIP-seq
MIRT961163	hsa-miR-4640-5p	CLIP-seq
MIRT2219702	hsa-miR-4649-3p	CLIP-seq
MIRT2523255	hsa-miR-4713-5p	CLIP-seq
MIRT961165	hsa-miR-4717-5p	CLIP-seq
MIRT2523256	hsa-miR-4723-3p	CLIP-seq
MIRT2523257	hsa-miR-4725-3p	CLIP-seq
MIRT961166	hsa-miR-4726-5p	CLIP-seq
MIRT2219704	hsa-miR-4735-3p	CLIP-seq
MIRT2523258	hsa-miR-4753-5p	CLIP-seq
MIRT2523259	hsa-miR-4795-5p	CLIP-seq
MIRT961171	hsa-miR-491-5p	CLIP-seq
MIRT2523260	hsa-miR-532-3p	CLIP-seq
MIRT2219707	hsa-miR-541	CLIP-seq
MIRT2219708	hsa-miR-544b	CLIP-seq
MIRT2523261	hsa-miR-558	CLIP-seq
MIRT2219709	hsa-miR-566	CLIP-seq
MIRT961173	hsa-miR-625	CLIP-seq
MIRT2523262	hsa-miR-628-5p	CLIP-seq
MIRT2219711	hsa-miR-654-5p	CLIP-seq
MIRT2219689	hsa-miR-1200	CLIP-seq
MIRT961141	hsa-miR-1207-5p	CLIP-seq
MIRT2679948	hsa-miR-124	CLIP-seq
MIRT2523234	hsa-miR-125a-5p	CLIP-seq
MIRT2523235	hsa-miR-125b	CLIP-seq
MIRT2219690	hsa-miR-128	CLIP-seq
MIRT2523236	hsa-miR-1294	CLIP-seq
MIRT961144	hsa-miR-1321	CLIP-seq
MIRT2523237	hsa-miR-137	CLIP-seq
MIRT2523238	hsa-miR-150	CLIP-seq
MIRT2219691	hsa-miR-1827	CLIP-seq
MIRT2219692	hsa-miR-18a	CLIP-seq
MIRT2219693	hsa-miR-18b	CLIP-seq
MIRT1984807	hsa-miR-1910	CLIP-seq
MIRT2523239	hsa-miR-22	CLIP-seq
MIRT961147	hsa-miR-3120-3p	CLIP-seq
MIRT2523240	hsa-miR-3148	CLIP-seq
MIRT1984809	hsa-miR-3151	CLIP-seq
MIRT2219696	hsa-miR-3157-3p	CLIP-seq
MIRT2219697	hsa-miR-3178	CLIP-seq
MIRT2523241	hsa-miR-3182	CLIP-seq
MIRT2523242	hsa-miR-3183	CLIP-seq
MIRT2523243	hsa-miR-3194-5p	CLIP-seq
MIRT2219699	hsa-miR-3672	CLIP-seq
MIRT2679949	hsa-miR-3714	CLIP-seq
MIRT961153	hsa-miR-3908	CLIP-seq
MIRT2679950	hsa-miR-3910	CLIP-seq
MIRT2523244	hsa-miR-3915	CLIP-seq
MIRT2523245	hsa-miR-3928	CLIP-seq
MIRT961155	hsa-miR-4254	CLIP-seq
MIRT2523246	hsa-miR-4265	CLIP-seq
MIRT2523247	hsa-miR-4268	CLIP-seq
MIRT961157	hsa-miR-4270	CLIP-seq
MIRT961158	hsa-miR-4292	CLIP-seq
MIRT2523249	hsa-miR-4296	CLIP-seq
MIRT961159	hsa-miR-4308	CLIP-seq
MIRT2523250	hsa-miR-4316	CLIP-seq
MIRT2523251	hsa-miR-4319	CLIP-seq
MIRT2523252	hsa-miR-4322	CLIP-seq
MIRT2219700	hsa-miR-4324	CLIP-seq
MIRT961161	hsa-miR-4441	CLIP-seq
MIRT1984815	hsa-miR-4447	CLIP-seq
MIRT2523253	hsa-miR-4448	CLIP-seq
MIRT2219701	hsa-miR-4463	CLIP-seq
MIRT1984816	hsa-miR-4472	CLIP-seq
MIRT2679951	hsa-miR-4477b	CLIP-seq
MIRT961162	hsa-miR-4633-3p	CLIP-seq
MIRT961163	hsa-miR-4640-5p	CLIP-seq
MIRT2219702	hsa-miR-4649-3p	CLIP-seq
MIRT2523255	hsa-miR-4713-5p	CLIP-seq
MIRT961164	hsa-miR-4716-3p	CLIP-seq
MIRT961165	hsa-miR-4717-5p	CLIP-seq
MIRT2523256	hsa-miR-4723-3p	CLIP-seq
MIRT961166	hsa-miR-4726-5p	CLIP-seq
MIRT961167	hsa-miR-4728-5p	CLIP-seq
MIRT2219704	hsa-miR-4735-3p	CLIP-seq
MIRT961168	hsa-miR-4739	CLIP-seq
MIRT2523258	hsa-miR-4753-5p	CLIP-seq
MIRT961169	hsa-miR-4756-5p	CLIP-seq
MIRT961170	hsa-miR-4763-3p	CLIP-seq
MIRT961171	hsa-miR-491-5p	CLIP-seq
MIRT2679952	hsa-miR-506	CLIP-seq
MIRT2523260	hsa-miR-532-3p	CLIP-seq
MIRT2219707	hsa-miR-541	CLIP-seq
MIRT2219708	hsa-miR-544b	CLIP-seq
MIRT2523261	hsa-miR-558	CLIP-seq
MIRT2219709	hsa-miR-566	CLIP-seq
MIRT961173	hsa-miR-625	CLIP-seq
MIRT2523262	hsa-miR-628-5p	CLIP-seq
MIRT2679953	hsa-miR-645	CLIP-seq
MIRT2219711	hsa-miR-654-5p	CLIP-seq
MIRT961175	hsa-miR-940	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20937905, 38422897
GO:0005783	Component	Endoplasmic reticulum	IDA	20937905
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	20166112
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0009922	Function	Fatty acid elongase activity	EXP	10970790
GO:0009922	Function	Fatty acid elongase activity	IBA
GO:0009922	Function	Fatty acid elongase activity	IDA	20166112
GO:0009922	Function	Fatty acid elongase activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IBA
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IDA	20166112, 20937905
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IBA
GO:0030148	Process	Sphingolipid biosynthetic process	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IMP	20937905
GO:0030497	Process	Fatty acid elongation	IEA
GO:0034625	Process	Fatty acid elongation, monounsaturated fatty acid	IBA
GO:0034625	Process	Fatty acid elongation, monounsaturated fatty acid	IDA	20166112
GO:0034625	Process	Fatty acid elongation, monounsaturated fatty acid	IEA
GO:0034626	Process	Fatty acid elongation, polyunsaturated fatty acid	IBA
GO:0035338	Process	Long-chain fatty-acyl-CoA biosynthetic process	IEA
GO:0035338	Process	Long-chain fatty-acyl-CoA biosynthetic process	TAS
GO:0036109	Process	Alpha-linolenic acid metabolic process	TAS
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IBA
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IDA	20166112, 20937905
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IEA
GO:0043651	Process	Linoleic acid metabolic process	TAS
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0061436	Process	Establishment of skin barrier	IEA

MIM	HGNC	e!Ensembl
611813	14418	ENSG00000066322

Q9BW60

Protein name

Very long chain fatty acid elongase 1 (EC 2.3.1.199) (3-keto acyl-CoA synthase ELOVL1) (ELOVL fatty acid elongase 1) (ELOVL FA elongase 1) (Elongation of very long chain fatty acids protein 1) (Very long chain 3-ketoacyl-CoA synthase 1) (Very long chain 3

Protein function

Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle (PubMed:29496980, PubMed:30487246). This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carb

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01151	ELO	23 → 262	GNS1/SUR4 family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:30487246}.

Sequence

MEAVVNLYQEVMKHADPRIQGYPLMGSPLLMTSILLTYVYFVLSLGPRIMANRKPFQLRG
FMIVYNFSLVALSLYIVYEFLMSGWLSTYTWRCDPVDYSNSPEALRMVRVAWLFLFSKFI
ELMDTVIFILRKKDGQVTFLHVFHHSVLPWSWWWGVKIAPGGMGSFHAMINSSVHVIMYL
YYGLSAFGPVAQPYLWWKKHMTAIQLIQFVLVSLHISQYYFMSSCNYQYPVIIHLIWMYG
TIFFMLFSNFWYHSYTKGKRLPRALQQNGAPGIAKVKAN

Sequence length

279

Interactions

View interactions

	KEGG		Reactome
	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways Fatty acid metabolism		Linoleic acid (LA) metabolism alpha-linolenic acid (ALA) metabolism Synthesis of very long-chain fatty acyl-CoAs

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	Pathogenic	rs2153923212, rs1570486718	RCV002248361 RCV000808178

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ELOVL1-related disorder	Benign; Uncertain significance	rs75531338, rs111698274, rs6699687, rs879643078, rs199764420	RCV003916359 RCV003961158 RCV003906329 RCV003952141 RCV003944525
Optic atrophy	Benign	rs111698274	RCV004817133

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenoleukodystrophy	Associate	20166112, 22911730, 26581106
Colorectal Neoplasms	Associate	28214830, 33731797
Endometrial Neoplasms	Associate	40244177
Mitochondrial Diseases	Associate	22544056
Nerve Degeneration	Associate	31393881
Papillomavirus Infections	Associate	32164487
Parkinson Disease	Associate	22544056
Respiratory Insufficiency	Associate	22544056
Squamous Cell Carcinoma of Head and Neck	Associate	38011007
Tn Syndrome	Stimulate	28851309

ELOVL1 (ELOVL fatty acid elongase 1)