DECR1 (2,4-dienoyl-CoA reductase 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1666
Gene name 2,4-dienoyl-CoA reductase 1
Gene symbol DECR1
Synonyms (NCBI Gene)
DECRNADPHSDR18C1
Chromosome 8
Chromosome location 8q21.3
Summary This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
44
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (44)
miRTarBase ID miRNA Experiments Reference
MIRT545687 hsa-miR-4773 PAR-CLIP 21572407
MIRT545686 hsa-miR-15a-5p PAR-CLIP 21572407
MIRT545685 hsa-miR-15b-5p PAR-CLIP 21572407
MIRT545684 hsa-miR-16-5p PAR-CLIP 21572407
MIRT545683 hsa-miR-195-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus HDA 21630459
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
222745 2753 ENSG00000104325
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16698
Protein name 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial (EC 1.3.1.124) (2,4-dienoyl-CoA reductase [NADPH]) (4-enoyl-CoA reductase [NADPH]) (Short chain dehydrogenase/reductase family 18C member 1)
Protein function Auxiliary enzyme of beta-oxidation. It participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in mitochondria. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA t
PDB 1W6U , 1W73 , 1W8D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13561 adh_short_C2 65 → 304 Domain
Tissue specificity TISSUE SPECIFICITY: Heart = liver = pancreas > kidney >> skeletal muscle = lung. {ECO:0000269|PubMed:7818482}.
Sequence
Sequence length 335
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DECR1-related disorder Likely benign rs148549954, rs149901486, rs145323335 RCV003973839
RCV003927123
RCV003937941
Progressive encephalopathy with leukodystrophy due to DECR deficiency Uncertain significance; Likely benign; Benign rs1020272663, rs774551643, rs145323335, rs1451324144, rs138725804, rs137904244, rs147668665, rs533450458 RCV002019601
RCV001909663
RCV000642296
RCV000791138
RCV001512804
RCV001514219
RCV002539107
RCV001400652
Show/Hide Text Mining Associations (17)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 7669561
Anemia Sickle Cell Associate 21114906
Aortic Aneurysm Abdominal Associate 28735510
Cardiomyopathies Associate 35971449
Diabetes Mellitus Type 2 Associate 32802835, 32991460
Down Syndrome Associate 19026285, 22377700
Fetal Growth Retardation Associate 27330572
Folate Malabsorption Hereditary Associate 19026285
Granulomatous Disease Chronic Associate 10498624, 20724480, 30924925, 31681257
Heart Failure Associate 32802835