Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1666
Gene name Gene Name - the full gene name approved by the HGNC.
2,4-dienoyl-CoA reductase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DECR1
Synonyms (NCBI Gene) Gene synonyms aliases
DECR, NADPH, SDR18C1
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
222745 2753 ENSG00000104325
Protein
UniProt ID 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.
  Reactome
    mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Progressive Encephalopathy With Leukodystrophy progressive encephalopathy with leukodystrophy due to decr deficiency, progressive encephalopathy with leukodystrophy due to DECR deficiency N/A N/A ClinVar, GenCC
Associations from Text Mining Disease 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