Gene Gene information from NCBI Gene database.
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
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
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.
MIM HGNC e!Ensembl
222745 2753 ENSG00000104325
Protein Protein information from UniProt database.
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.
  Reactome
    mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
2,4-DIENOYL-COA REDUCTASE DEFICIENCY CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DECR1-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
17-Hydroxysteroid Dehydrogenase Deficiency 17-hydroxysteroid dehydrogenase deficiency BEFREE 21214500
★☆☆☆☆
Found in Text Mining only
2,4-Dienoyl-CoA Reductase Deficiency 2,4-dienoyl-CoA reductase deficiency GENOMICS_ENGLAND_DG 24847004
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
2,4-Dienoyl-CoA Reductase Deficiency 2,4-dienoyl-CoA reductase deficiency CTD_human_DG 25526675
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aarskog syndrome Aarskog Syndrome BEFREE 28450305
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 30018168
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 26634271
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 21509626, 30584237, 30984340
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 31197039, 7531687
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 17403674, 17947454, 20086178, 20576920, 21525435
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 20347035, 21138653
★☆☆☆☆
Found in Text Mining only