DECR1
entrez
1666
canonical
uniprot
Q16698
canonical
ensembl
ENSG00000104325
resolver
ensp
ENSP00000220764
resolver
ensp
ENSP00000429779
resolver
ensp
ENSP00000556557
resolver
ensp
ENSP00000768864
resolver
genesymbol
DECR1
resolver
genesymbol_syn
DECR
resolver
genesymbol_syn
SDR18C1
resolver
hgnc
HGNC:2753
resolver
uniprot
B7Z6B8
resolver
uniprot
Q2M304
resolver
uniprot
Q93085
resolver
uniprot_entry
DECR_HUMAN
resolver
uniprot_sec
B7Z6B8
resolver
uniprot_sec
Q2M304
resolver
uniprot_sec
Q93085
resolver
amino_acid_sequence
MKLPARVFFTLGSRLPCGLAPRRFFSYGTKILYQNTEALQSKFFSPLQKAMLPPNSFQGKVAFITGGGTGLGKGMTTLLSSLGAQCVIASRKMDVLKATAEQISSQTGNKVHAIQCDVRDPDMVQNTVSELIKVAGHPNIVINNAAGNFISPTERLSPNAWKTITDIVLNGTAFVTLEIGKQLIKAQKGAAFLSITTIYAETGSGFVVPSASAKAGVEAMSKSLAAEWGKYGMRFNVIQPGPIKTKGAFSRLDPTGTFEKEMIGRIPCGRLGTVEELANLAAFLCSDYASWINGAVIKFDGGEEVLISGEFNDLRKVTKEQWDTIEELIRKTKGS
uniprot
proteins
disease_involvement
DISEASE: 2,4-dienoyl-CoA reductase deficiency (DECRD) [MIM:616034]: A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia. {ECO:0000269|PubMed:24847004}. Note=The protein represented in this entry is involved in disease pathogenesis. A selective decrease in mitochondrial NADP(H) levels due to NADK2 mutations causes a deficiency of NADPH-dependent mitochondrial enzymes, such as DECR1 and AASS. {ECO:0000269|PubMed:24847004}.
uniprot
proteins
ec_number
1.3.1.124
uniprot
proteins
function
FUNCTION: Auxiliary enzyme in the beta-oxidation of mono- and polyunsaturated fatty acids (Probable) (PubMed:15531764, PubMed:26474213). Together with the Enoyl-CoA delta isomerase 1 (ECI1) and the Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase (ECH1) they allow reentrance of the enoyl-CoA into the beta-oxidation cycle (PubMed:26474213). It participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in mitochondria (PubMed:15531764). Acts primarily on polyunsaturated fatty acids (Probable). Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA (PubMed:15531764). Based on its established catalytic mechanism, it is predicted to act also on other fatty acids besides those tested experimentally (Probable). {ECO:0000269|PubMed:15531764, ECO:0000303|PubMed:26474213, ECO:0000305|PubMed:26474213, ECO:0000305|PubMed:32427840}.
uniprot
proteins
mass_dalton
36068
uniprot
proteins
mutagenesis
MUTAGEN 148; /note="N->A: Reduces enzyme activity by 97%."; /evidence="ECO:0000269|PubMed:15531764"; MUTAGEN 199; /note="Y->A: Reduces enzyme activity by 99%. Strongly reduced affinity for substrate and for NADP."; /evidence="ECO:0000269|PubMed:15531764"; MUTAGEN 210; /note="S->A: Reduces enzyme activity by over 99%."; /evidence="ECO:0000269|PubMed:15531764"; MUTAGEN 214; /note="K->A: Reduces enzyme activity by over 99%."; /evidence="ECO:0000269|PubMed:15531764
uniprot
proteins
protein_family
2
uniprot
proteins
protein_family
4-dienoyl-CoA reductase subfamily
uniprot
proteins
protein_family
Short-chain dehydrogenases/reductases (SDR) family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15531764
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24847004
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26474213
uniprot
proteins
pubmed
32427840
uniprot
proteins
pubmed
7818482
uniprot
proteins
pubmed
9403065
uniprot
proteins
sequence_length
335
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:7818482}.
uniprot
proteins