Reactome | UniProt:P30084 ECHS1

chain	transit peptide:1-27 chain:28-290
checksum	0CCD0C7F891B1704
comment	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 short-chained fatty enoyl-CoA thioesters from 4 carbons long (C4) up to C16 (PubMed:26251176). Has high substrate specificity for crotonyl-CoA ((2E)-butenoyl-CoA) and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA (3-methyl-(2E)-butenoyl-CoA) and methacrylyl-CoA ((2E)-2-methylpropenoyl-CoA) (PubMed:26251176). Can bind tiglyl-CoA (2-methylcrotonoyl-CoA), but hydrates only a small amount of this substrate (PubMed:26251176). Plays a key role in the beta-oxidation spiral of short- and medium-chain fatty acid oxidation (PubMed:25125611, PubMed:26251176). At a lower rate than the hydratase reaction, catalyzes the isomerase reaction of trans-3-enoyl-CoA species (such as (3E)-hexenoyl-CoA) to trans-2-enoyl-CoA species (such as (2E)-hexenoyl-CoA), which are subsequently hydrated to 3(S)-3-hydroxyacyl-CoA species (such as (3S)-hydroxyhexanoyl-CoA) (By similarity).CATALYTIC ACTIVITY a (3S)-3-hydroxyacyl-CoA = a (2E)-enoyl-CoA + H2OCATALYTIC ACTIVITY a (3E)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoACATALYTIC ACTIVITY (3E)-hexenoyl-CoA = (2E)-hexenoyl-CoACATALYTIC ACTIVITY (3S)-3-hydroxybutanoyl-CoA = (2E)-butenoyl-CoA + H2OCATALYTIC ACTIVITY 3-hydroxyisovaleryl-CoA = 3-methylbut-2-enoyl-CoA + H2OCATALYTIC ACTIVITY 3-hydroxypropanoyl-CoA = acryloyl-CoA + H2OCATALYTIC ACTIVITY 3-hydroxybutanoyl-CoA = (2E)-butenoyl-CoA + H2OCATALYTIC ACTIVITY 2-methylpropenoyl-CoA + H2O = (S)-3-hydroxyisobutanoyl-CoACATALYTIC ACTIVITY (3S)-hydroxyhexanoyl-CoA = (2E)-hexenoyl-CoA + H2OCATALYTIC ACTIVITY (3S)-hydroxydecanoyl-CoA = (2E)-decenoyl-CoA + H2OBIOPHYSICOCHEMICAL PROPERTIES Lipid metabolism; fatty acid beta-oxidation.SUBUNIT Homohexamer; dimer of trimers.INTERACTION Liver, fibroblast, muscle. Barely detectable in spleen and kidney.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the enoyl-CoA hydratase/isomerase family.
crossReference	[DatabaseIdentifier:11459531] ENSEMBL:ENSG00000127884 [DatabaseIdentifier:12339272] RefSeq:NP_004083.3 [DatabaseIdentifier:12291008] Pharos - Targets:P30084 [DatabaseIdentifier:12253034] PRO:P30084 [DatabaseIdentifier:12216478] PDB:8ZRX [DatabaseIdentifier:12216483] PDB:8ZRU [DatabaseIdentifier:12216479] PDB:2HW5 [DatabaseIdentifier:12216480] PDB:8ZRY [DatabaseIdentifier:12216481] PDB:8ZRV [DatabaseIdentifier:12216482] PDB:8ZRW [DatabaseIdentifier:12135404] Orphanet:ECHS1 [DatabaseIdentifier:12130811] OpenTargets:ENSG00000127884 [DatabaseIdentifier:11846155] HPA:ENSG00000127884-ECHS1 [DatabaseIdentifier:11829914] HMDB Protein:HMDBP00388 [DatabaseIdentifier:11551954] ENSEMBL:ENSP00000357535 [DatabaseIdentifier:11674653] ENSEMBL:ENST00000368547 [DatabaseIdentifier:11793168] GeneCards:ECHS1 [DatabaseIdentifier:11809200] GlyGen:P30084
databaseName	UniProt
dbId	54126
description	recommendedName: fullName evidence="19"Enoyl-CoA hydratase, mitochondrial shortName: mECH shortName: mECH1 ecNumber evidence="10"4.2.1.17 ecNumber evidence="2"5.3.3.8 alternativeName: Enoyl-CoA hydratase 1 shortName evidence="17 18"ECHS1 alternativeName: fullName evidence="17"Short-chain enoyl-CoA hydratase shortName: SCEH
displayName	UniProt:P30084 ECHS1
geneName	ECHS1
identifier	P30084
isSequenceChanged	false
keyword	3D-structure Acetylation Direct protein sequencing Disease variant Fatty acid metabolism Isomerase Lipid metabolism Lyase Mitochondrion Neurodegeneration Phosphoprotein Proteomics identification Reference proteome Transit peptide
modified	[InstanceEdit:9948485] Weiser, Joel, 2025-05-21
moleculeType	Protein
name	ECHS1
otherIdentifier	11757606_s_at 16719892 16719903 1892 201135_PM_at 201135_at 3315232 3315233 3315234 3315238 3315242 3315245 3315247 3315248 3315250 3315251 3315252 3315253 37016_at 7937217 A_23_P104362 D13900_at GE548043 GO:0003824 GO:0004165 GO:0004300 GO:0005515 GO:0005739 GO:0005759 GO:0006520 GO:0006629 GO:0006631 GO:0006635 GO:0009083 GO:0016829 GO:0016853 GO:0018812 GO:0043956 GO:0120092 HMNXSV003032605 HMNXSV003046503 ILMN_1718132 PH_hs_0004410 TC10001790.hg TC10001791.hg g12707569_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-54125] ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916688] A2V ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916687] T180A ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916686] A238V ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916665] A132T ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916681] G195S ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916680] K273E ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916676] R54H ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916659] I66T ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916674] D150G ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916689] A158D ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916672] C225R ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916684] N59S ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916683] A138V ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916667] E77Q ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916682] F33S ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916666] Q159R ECHS1 [mitochondrial matrix] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:11824856] HGNC:3151 ECHS1 [ReferenceDNASequence:12677982] UCSC:P30084 ECHS1 [ReferenceDNASequence:12115329] OMIM:602292 ECHS1 [ReferenceDNASequence:12038121] NCBI Gene:1892 ECHS1 [ReferenceDNASequence:11954028] Monarch:1892 ECHS1 [ReferenceDNASequence:11866743] KEGG:hsa:1892 ECHS1 [ReferenceDNASequence:ensembl:ENSG00000127884] ENSEMBL:ENSG00000127884 ECHS1 [ReferenceDNASequence:11324239] BioGPS Gene:1892 ECHS1 [ReferenceDNASequence:11391768] COSMIC - genes:ECHS1 ECHS1 [ReferenceDNASequence:11421564] CTD Gene:1892 ECHS1 [ReferenceDNASequence:11427464] dbSNP Gene:1892 ECHS1
referenceTranscript	[ReferenceRNASequence:12521165] RefSeq:NM_004092.3 ECHS1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	ECHM_HUMAN O00739 Q5VWY1 Q96H54
sequenceLength	290
species	[Species:48887] Homo sapiens
stId	uniprot:P30084
url	http://purl.uniprot.org/uniprot/P30084

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-54125] ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916688] A2V ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916687] T180A ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916686] A238V ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916665] A132T ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916681] G195S ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916680] K273E ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916676] R54H ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916659] I66T ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916674] D150G ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916689] A158D ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916672] C225R ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916684] N59S ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916683] A138V ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916667] E77Q ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916682] F33S ECHS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-9916666] Q159R ECHS1 [mitochondrial matrix]
(referenceSequence)	[ReplacedResidue:9916639] L-alanine 2 replaced with L-valine [ReplacedResidue:9916642] L-threonine 180 replaced with L-alanine [ReplacedResidue:9916645] L-alanine 238 replaced with L-valine [ReplacedResidue:9916643] L-alanine 132 replaced with L-threonine [ReplacedResidue:9916649] glycine 195 replaced with L-serine [ReplacedResidue:9916651] L-lysine 273 replaced with L-glutamic acid [ReplacedResidue:9916646] L-arginine 54 replaced with L-histidine [ReplacedResidue:9916652] L-isoleucine 60 replaced with L-threonine [ReplacedResidue:9916638] L-aspartic acid 150 replaced with glycine [ReplacedResidue:9916647] L-alanine 158 replaced with L-aspartic acid [ReplacedResidue:9916648] L-cysteine 225 replaced with L-arginine [ReplacedResidue:9916644] L-asparagine 59 replaced with L-serine [ReplacedResidue:9916653] L-alanine 138 replaced with L-valine [ReplacedResidue:9916641] L-glutamic acid 77 replaced with L-glutamine [ReplacedResidue:9916640] L-phenylalanine 33 replaced with L-serine [ReplacedResidue:9916637] L-glutamine 159 replaced with L-arginine
(interactor)	[UndirectedInteraction:11143191] UniProt:P40763 <-> UniProt:P30084 (IntAct) [UndirectedInteraction:11173429] UniProt:P11182 <-> UniProt:P30084 (IntAct) [UndirectedInteraction:11247965] UniProt:P42227 <-> UniProt:P30084 (IntAct) [UndirectedInteraction:11305335] UniProt:Q5S007 <-> UniProt:P30084 (IntAct)

UniProt:P30084 ECHS1 Show undefined attributes

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