ECHS1
entrez
1892
canonical
uniprot
P30084
canonical
ensembl
ENSG00000127884
resolver
ensp
ENSP00000357535
resolver
enst
ENST00000368547
resolver
genesymbol
ECHS1
resolver
hgnc
HGNC:3151
resolver
uniprot
O00739
resolver
uniprot
Q5VWY1
resolver
uniprot
Q96H54
resolver
uniprot_entry
ECHM_HUMAN
resolver
uniprot_sec
O00739
resolver
uniprot_sec
Q5VWY1
resolver
uniprot_sec
Q96H54
resolver
amino_acid_sequence
MAALRVLLSCVRGPLRPPVRCPAWRPFASGANFEYIIAEKRGKNNTVGLIQLNRPKALNALCDGLIDELNQALKTFEEDPAVGAIVLTGGDKAFAAGADIKEMQNLSFQDCYSSKFLKHWDHLTQVKKPVIAAVNGYAFGGGCELAMMCDIIYAGEKAQFAQPEILIGTIPGAGGTQRLTRAVGKSLAMEMVLTGDRISAQDAKQAGLVSKICPVETLVEEAIQCAEKIASNSKIVVAMAKESVNAAFEMTLTEGSKLEKKLFYSTFATDDRKEGMTAFVEKRKANFKDQ
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]: A severe, autosomal recessive inborn error affecting valine metabolism. Disease features include brain lesions in the basal ganglia, neurodegeneration, delayed psychomotor development, hypotonia, spasticity, and increased lactic acid in serum and cerebral serum fluid. {ECO:0000269|PubMed:25125611, ECO:0000269|PubMed:25393721, ECO:0000269|PubMed:26000322, ECO:0000269|PubMed:26251176, ECO:0000269|PubMed:26741492, ECO:0000269|PubMed:27221955}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.2.1.17
uniprot
proteins
ec_number
5.3.3.8
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:P14604, ECO:0000269|PubMed:25125611, ECO:0000269|PubMed:26251176}.
uniprot
proteins
mass_dalton
31387
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid beta-oxidation. {ECO:0000269|PubMed:25125611, ECO:0000269|PubMed:26251176}.
uniprot
proteins
protein_family
Enoyl-CoA hydratase/isomerase family
uniprot
proteins
pubmed
11271497
uniprot
proteins
pubmed
1286669
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25125611
uniprot
proteins
pubmed
25393721
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26000322
uniprot
proteins
pubmed
26251176
uniprot
proteins
pubmed
26741492
uniprot
proteins
pubmed
27221955
uniprot
proteins
pubmed
8012501
uniprot
proteins
pubmed
9073515
uniprot
proteins
sequence_length
290
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix.
uniprot
proteins