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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1892
Gene name	Enoyl-CoA hydratase, short chain 1
Gene symbol	ECHS1
Synonyms (NCBI Gene)	ECHS1DSCEHmECHmECH1
Chromosome	10
Chromosome location	10q26.3
Summary	The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the h

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SNP ID	Visualize variation	Clinical significance	Consequence
rs144800865	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs150321966	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs151006739	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs201865375	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201966675	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs371582393	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs375032130	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs375266808	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs557128093	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs565090080	T>C	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs746519257	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs754609693	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs758723288	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs761989177	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs762885546	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs770614061	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs770931871	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs775650144	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs777218310	TA>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs786204001	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs786204002	C>G	Pathogenic	Intron variant
rs864309656	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1318391499	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554885530	->TT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1589878956	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1589880497	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant

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Show/Hide all (118)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023625	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT046438	hsa-miR-15b-5p	CLASH	23622248
MIRT045819	hsa-miR-152-3p	CLASH	23622248
MIRT045094	hsa-miR-186-5p	CLASH	23622248
MIRT951765	hsa-miR-1270	CLIP-seq
MIRT951766	hsa-miR-185	CLIP-seq
MIRT951767	hsa-miR-18a	CLIP-seq
MIRT951768	hsa-miR-18b	CLIP-seq
MIRT951769	hsa-miR-3125	CLIP-seq
MIRT951770	hsa-miR-3154	CLIP-seq
MIRT951771	hsa-miR-3605-5p	CLIP-seq
MIRT951772	hsa-miR-3907	CLIP-seq
MIRT951773	hsa-miR-3916	CLIP-seq
MIRT951774	hsa-miR-3925-3p	CLIP-seq
MIRT951775	hsa-miR-3928	CLIP-seq
MIRT951776	hsa-miR-3977	CLIP-seq
MIRT951777	hsa-miR-4306	CLIP-seq
MIRT951778	hsa-miR-4531	CLIP-seq
MIRT951779	hsa-miR-4635	CLIP-seq
MIRT951780	hsa-miR-4644	CLIP-seq
MIRT951781	hsa-miR-4699-3p	CLIP-seq
MIRT951782	hsa-miR-4735-3p	CLIP-seq
MIRT951783	hsa-miR-4760-5p	CLIP-seq
MIRT951784	hsa-miR-4799-5p	CLIP-seq
MIRT951785	hsa-miR-548e	CLIP-seq
MIRT951786	hsa-miR-548f	CLIP-seq
MIRT951787	hsa-miR-583	CLIP-seq
MIRT951788	hsa-miR-620	CLIP-seq
MIRT951767	hsa-miR-18a	CLIP-seq
MIRT951768	hsa-miR-18b	CLIP-seq
MIRT951771	hsa-miR-3605-5p	CLIP-seq
MIRT951772	hsa-miR-3907	CLIP-seq
MIRT951774	hsa-miR-3925-3p	CLIP-seq
MIRT1981858	hsa-miR-4436a	CLIP-seq
MIRT951779	hsa-miR-4635	CLIP-seq
MIRT951781	hsa-miR-4699-3p	CLIP-seq
MIRT951782	hsa-miR-4735-3p	CLIP-seq
MIRT951787	hsa-miR-583	CLIP-seq
MIRT2216711	hsa-miR-1207-5p	CLIP-seq
MIRT2216712	hsa-miR-1324	CLIP-seq
MIRT951767	hsa-miR-18a	CLIP-seq
MIRT951768	hsa-miR-18b	CLIP-seq
MIRT2216713	hsa-miR-2277-3p	CLIP-seq
MIRT2216714	hsa-miR-2278	CLIP-seq
MIRT2216715	hsa-miR-3166	CLIP-seq
MIRT2216716	hsa-miR-3189-5p	CLIP-seq
MIRT951771	hsa-miR-3605-5p	CLIP-seq
MIRT2216717	hsa-miR-3714	CLIP-seq
MIRT951772	hsa-miR-3907	CLIP-seq
MIRT951774	hsa-miR-3925-3p	CLIP-seq
MIRT2216718	hsa-miR-4323	CLIP-seq
MIRT1981858	hsa-miR-4436a	CLIP-seq
MIRT2216719	hsa-miR-4446-5p	CLIP-seq
MIRT2216720	hsa-miR-4457	CLIP-seq
MIRT2216721	hsa-miR-4493	CLIP-seq
MIRT951779	hsa-miR-4635	CLIP-seq
MIRT951781	hsa-miR-4699-3p	CLIP-seq
MIRT2216722	hsa-miR-4731-3p	CLIP-seq
MIRT951782	hsa-miR-4735-3p	CLIP-seq
MIRT2216723	hsa-miR-4742-3p	CLIP-seq
MIRT2216724	hsa-miR-4755-5p	CLIP-seq
MIRT2216725	hsa-miR-4763-3p	CLIP-seq
MIRT2216726	hsa-miR-4801	CLIP-seq
MIRT951787	hsa-miR-583	CLIP-seq
MIRT2216727	hsa-miR-642a	CLIP-seq
MIRT2216728	hsa-miR-922	CLIP-seq
MIRT2520730	hsa-miR-1207-3p	CLIP-seq
MIRT2520731	hsa-miR-1909	CLIP-seq
MIRT2520732	hsa-miR-2355-3p	CLIP-seq
MIRT2520733	hsa-miR-2467-3p	CLIP-seq
MIRT2520734	hsa-miR-3183	CLIP-seq
MIRT951771	hsa-miR-3605-5p	CLIP-seq
MIRT2520735	hsa-miR-3611	CLIP-seq
MIRT2520736	hsa-miR-3660	CLIP-seq
MIRT2520737	hsa-miR-3909	CLIP-seq
MIRT951776	hsa-miR-3977	CLIP-seq
MIRT2520738	hsa-miR-4257	CLIP-seq
MIRT2520739	hsa-miR-4325	CLIP-seq
MIRT2520740	hsa-miR-4438	CLIP-seq
MIRT2520741	hsa-miR-4526	CLIP-seq
MIRT951779	hsa-miR-4635	CLIP-seq
MIRT2520742	hsa-miR-4688	CLIP-seq
MIRT951781	hsa-miR-4699-3p	CLIP-seq
MIRT2520743	hsa-miR-4723-3p	CLIP-seq
MIRT2520744	hsa-miR-4793-3p	CLIP-seq
MIRT951784	hsa-miR-4799-5p	CLIP-seq
MIRT2520745	hsa-miR-486-3p	CLIP-seq
MIRT2520746	hsa-miR-515-5p	CLIP-seq
MIRT951785	hsa-miR-548e	CLIP-seq
MIRT951786	hsa-miR-548f	CLIP-seq
MIRT951787	hsa-miR-583	CLIP-seq
MIRT2520747	hsa-miR-676	CLIP-seq
MIRT2520730	hsa-miR-1207-3p	CLIP-seq
MIRT2520731	hsa-miR-1909	CLIP-seq
MIRT2520732	hsa-miR-2355-3p	CLIP-seq
MIRT2520733	hsa-miR-2467-3p	CLIP-seq
MIRT2520734	hsa-miR-3183	CLIP-seq
MIRT951771	hsa-miR-3605-5p	CLIP-seq
MIRT2520735	hsa-miR-3611	CLIP-seq
MIRT2520736	hsa-miR-3660	CLIP-seq
MIRT2520737	hsa-miR-3909	CLIP-seq
MIRT951776	hsa-miR-3977	CLIP-seq
MIRT2520738	hsa-miR-4257	CLIP-seq
MIRT2520739	hsa-miR-4325	CLIP-seq
MIRT2520740	hsa-miR-4438	CLIP-seq
MIRT2520741	hsa-miR-4526	CLIP-seq
MIRT951779	hsa-miR-4635	CLIP-seq
MIRT2520742	hsa-miR-4688	CLIP-seq
MIRT951781	hsa-miR-4699-3p	CLIP-seq
MIRT2520743	hsa-miR-4723-3p	CLIP-seq
MIRT2520744	hsa-miR-4793-3p	CLIP-seq
MIRT951784	hsa-miR-4799-5p	CLIP-seq
MIRT2520745	hsa-miR-486-3p	CLIP-seq
MIRT2520746	hsa-miR-515-5p	CLIP-seq
MIRT951785	hsa-miR-548e	CLIP-seq
MIRT951786	hsa-miR-548f	CLIP-seq
MIRT951787	hsa-miR-583	CLIP-seq
MIRT2520747	hsa-miR-676	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004165	Function	Delta(3)-delta(2)-enoyl-CoA isomerase activity	IEA
GO:0004300	Function	Enoyl-CoA hydratase activity	EXP	26251176
GO:0004300	Function	Enoyl-CoA hydratase activity	IDA	26251176
GO:0004300	Function	Enoyl-CoA hydratase activity	IEA
GO:0004300	Function	Enoyl-CoA hydratase activity	TAS	9073515
GO:0005515	Function	Protein binding	IPI	14557246, 23416296, 24510904, 24947832, 31046837
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	16130169
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	26251176
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	TAS	9073515
GO:0009083	Process	Branched-chain amino acid catabolic process	TAS
GO:0016829	Function	Lyase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0018812	Function	3-hydroxyacyl-CoA dehydratase activity	IEA
GO:0043956	Function	3-hydroxypropionyl-CoA dehydratase activity	IEA
GO:0120092	Function	Crotonyl-CoA hydratase activity	IEA

MIM	HGNC	e!Ensembl
602292	3151	ENSG00000127884

P30084

Protein name

Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) (EC 4.2.1.17) (EC 5.3.3.8) (Enoyl-CoA hydratase 1) (ECHS1) (Short-chain enoyl-CoA hydratase) (SCEH)

Protein function

Converts unsaturated trans-2-enoyl-CoA species ((2E)-enoyl-CoA) to the corresponding (3S)-3hydroxyacyl-CoA species through addition of a water molecule to the double bond (PubMed:25125611, PubMed:26251176). Catalyzes the hydration of medium- and

PDB

2HW5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00378	ECH_1	42 → 290	Enoyl-CoA hydratase/isomerase	Domain

Tissue specificity

TISSUE SPECIFICITY: Liver, fibroblast, muscle. Barely detectable in spleen and kidney.

Sequence

MAALRVLLSCVRGPLRPPVRCPAWRPFASGANFEYIIAEKRGKNNTVGLIQLNRPKALNA
LCDGLIDELNQALKTFEEDPAVGAIVLTGGDKAFAAGADIKEMQNLSFQDCYSSKFLKHW
DHLTQVKKPVIAAVNGYAFGGGCELAMMCDIIYAGEKAQFAQPEILIGTIPGAGGTQRLT
RAVGKSLAMEMVLTGDRISAQDAKQAGLVSKICPVETLVEEAIQCAEKIASNSKIVVAMA
KESVNAAFEMTLTEGSKLEKKLFYSTFATDDRKEGMTAFVEKRKANFKDQ

Sequence length

290

Interactions

View interactions

	KEGG		Reactome
	Fatty acid elongation Fatty acid degradation Valine, leucine and isoleucine degradation Lysine degradation Tryptophan metabolism beta-Alanine metabolism Propanoate metabolism Butanoate metabolism Metabolic pathways Carbon metabolism Fatty acid metabolism		Branched-chain amino acid catabolism Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA Beta oxidation of octanoyl-CoA to hexanoyl-CoA Beta oxidation of hexanoyl-CoA to butanoyl-CoA Beta oxidation of butanoyl-CoA to acetyl-CoA

126

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ECHS1-related disorder	Likely pathogenic; Pathogenic	rs201865375, rs371063211, rs2133443370, rs758723288	RCV004748657 RCV003420583 RCV003412015 RCV003392223
Leigh syndrome	Likely pathogenic; Pathogenic	rs587776497, rs587776498, rs746519257	RCV000144496 RCV000144497 RCV004017769
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	Likely pathogenic; Pathogenic	rs933592081, rs1164154836, rs587776497, rs587776498, rs2133441975, rs2133443188, rs769429279, rs786204001, rs786204002, rs1849042311, rs201865375, rs864309656, rs2493847739, rs371063211, rs758723288 View all (20 more)	RCV004774460 RCV002246511 RCV000167581 RCV000167582 RCV002249039 RCV002249927 RCV002463376 RCV000167579 RCV000167580 RCV002470551 RCV000203238 RCV000203246 RCV003144919 RCV003148173 RCV000408620 RCV000578423 RCV000578195 RCV000578268 RCV000449543 RCV000656340 RCV000578160 RCV000578337 RCV000578264 RCV000578357 RCV000578468 RCV000851532 RCV000853272 RCV000988462 RCV000988463 RCV000988464 RCV000988465 RCV001089955 RCV001248823 RCV001248826 RCV001260247
See cases	Likely pathogenic; Pathogenic	rs375032130, rs746519257	RCV002252122 RCV002252284
Thymoma	Likely pathogenic; Pathogenic	rs754815893	RCV005913621
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs754815893	RCV005913622

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs143572033	RCV005917820
Familial cancer of breast	Benign	rs149289784	RCV005919672
Lung cancer	-	rs2133440653	RCV005930082
Malignant tumor of esophagus	Benign	rs149289784	RCV005919673
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs116457827, rs149289784	RCV005916390 RCV005919674
Squamous cell lung carcinoma	-	rs2133442721	RCV005930206
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs116457827, rs149289784	RCV005916391 RCV005919675

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis	Associate	33112498, 40652483
Acidosis Lactic	Associate	26081110, 32354323
Basal Ganglia Diseases	Associate	26081110, 32329585, 33112498, 40652483
Beta Hydroxyisobutyryl CoA Deacylase Deficiency	Associate	32329585, 33112498, 36200804
Brain Diseases	Associate	32354323, 40652483
Breast Neoplasms	Associate	20541551
Carcinoma Renal Cell	Inhibit	31891870
Cardiomyopathies	Associate	32354323
Cardiomyopathy Dilated	Associate	30541556
Cerebral Palsy	Associate	35076175
Deafness	Associate	32354323
Developmental Disabilities	Associate	33112498, 40652483
Disease	Associate	33112498
Dystonia	Associate	32354323, 33112498
Dystonic Disorders	Associate	32329585
Epilepsy	Associate	32354323
Fractures Bone	Associate	32329585
Genetic Diseases Inborn	Associate	33112498
Immunologic Deficiency Syndromes	Associate	29575569, 32677908, 36200804
Inflammation	Associate	39328412
Ketosis	Associate	33112498
Language Development Disorders	Associate	32354323
Leigh Disease	Associate	26081110, 29575569, 30029642, 32677908, 32777769, 33112498, 35962613, 40652483
Leukoencephalopathies	Associate	26081110
Metabolism Inborn Errors	Inhibit	40652483
Microphthalmia Syndromic 10	Associate	26081110
Mitochondrial complex I deficiency	Associate	35962613
Mitochondrial Diseases	Associate	32354323
Mitochondrial encephalopathy	Associate	32329585, 32354323
Movement Disorders	Associate	36200804, 40652483
Neoplasm Metastasis	Associate	35067686
Neoplasms	Associate	20541551, 25338767, 35067686, 39328412
Neurodegenerative Diseases	Associate	26081110
Optic Atrophy	Associate	32354323
Pyruvate Dehydrogenase Complex Deficiency Disease	Associate	26081110
Seizures	Associate	40652483
Sjogren's Syndrome	Associate	29504848
Stomach Neoplasms	Associate	25338767, 33881965, 39328412
Stress Disorders Post Traumatic	Associate	35999196

ECHS1 (enoyl-CoA hydratase, short chain 1)