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Aliases for DECR1 Gene

Aliases for DECR1 Gene

  • 2,4-Dienoyl-CoA Reductase 1 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 18C Member 1 3 4
  • 2,4-Dienoyl-CoA Reductase 1, Mitochondrial 2 3
  • SDR18C1 3 4
  • DECR 3 4
  • Short Chain Dehydrogenase/Reductase Family 18C, Member 1 2
  • 2,4-Dienoyl-CoA Reductase, Mitochondrial 3
  • 2,4-Dienoyl-CoA Reductase [NADPH] 4
  • 4-Enoyl-CoA Reductase [NADPH] 4
  • 4-Enoyl-CoA Reductase 3
  • EC 1.3.1.34 4
  • NADPH 3

External Ids for DECR1 Gene

Previous HGNC Symbols for DECR1 Gene

  • DECR

Previous GeneCards Identifiers for DECR1 Gene

  • GC08P089445
  • GC08P090745
  • GC08P090970
  • GC08P091082
  • GC08P086223

Summaries for DECR1 Gene

Entrez Gene Summary for DECR1 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]

GeneCards Summary for DECR1 Gene

DECR1 (2,4-Dienoyl-CoA Reductase 1) is a Protein Coding gene. Diseases associated with DECR1 include 2,4-Dienoyl-Coa Reductase Deficiency and Chronic Granulomatous Disease. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NADPH binding. An important paralog of this gene is DECR2.

UniProtKB/Swiss-Prot for DECR1 Gene

  • 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. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA.

Additional gene information for DECR1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DECR1 Gene

Genomics for DECR1 Gene

GeneHancer (GH) Regulatory Elements for DECR1 Gene

Promoters and enhancers for DECR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I089999 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.2 168 3.8 HDGF FOXA2 SMAD1 ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 YY1 NBN DECR1 LOC101929709
GH08I090004 Enhancer 1.1 Ensembl ENCODE dbSUPER 18.7 +4.6 4593 2.3 HDGF CTCF BCOR EBF1 IRF4 GATA2 EGR1 POLR2A ATF7 ETV6 DECR1 NBN PIR41949
GH08I090082 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 10.6 +81.5 81492 0.7 HDAC1 RB1 ZNF76 SIN3A ZBTB7B ZNF48 ZBTB40 CHAMP1 ZNF766 ARID2 CALB1 NBN DECR1 PIR41949
GH08I089725 Enhancer 1.5 FANTOM5 Ensembl ENCODE 10.9 -273.1 -273148 5.7 HDGF PKNOX1 ATF1 SIN3A IRF4 YY1 POLR2B ZNF766 ZNF143 ATF7 LOC101929709 RIPK2 NBN DECR1 OSGIN2 PIR62642
GH08I089841 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -159.9 -159851 1 ATF4 CEBPB CEBPG RIPK2 DECR1 NBN LOC101929709 OSGIN2 ENSG00000275103 GC08M089901 RNU6-925P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DECR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DECR1 gene promoter:

Genomic Locations for DECR1 Gene

Genomic Locations for DECR1 Gene
chr8:90,001,352-90,052,092
(GRCh38/hg38)
Size:
50,741 bases
Orientation:
Plus strand
chr8:91,013,580-91,064,320
(GRCh37/hg19)

Genomic View for DECR1 Gene

Genes around DECR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DECR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DECR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DECR1 Gene

Proteins for DECR1 Gene

  • Protein details for DECR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16698-DECR_HUMAN
    Recommended name:
    2,4-dienoyl-CoA reductase, mitochondrial
    Protein Accession:
    Q16698
    Secondary Accessions:
    • B7Z6B8
    • Q2M304
    • Q93085

    Protein attributes for DECR1 Gene

    Size:
    335 amino acids
    Molecular mass:
    36068 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for DECR1 Gene

    Alternative splice isoforms for DECR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DECR1 Gene

Post-translational modifications for DECR1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for DECR1 Gene

Domains & Families for DECR1 Gene

Gene Families for DECR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q16698

UniProtKB/Swiss-Prot:

DECR_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2,4-dienoyl-CoA reductase subfamily.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2,4-dienoyl-CoA reductase subfamily.
genes like me logo Genes that share domains with DECR1: view

Function for DECR1 Gene

Molecular function for DECR1 Gene

GENATLAS Biochemistry:
2-4-dienoyl-CoA reductase,mitochondrial,auxiliary enzyme of beta oxidation participating in the metabolism of (poly) unsaturated fatty enoyl-CoA esters
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=7.7 uM for NADPH {ECO:0000269 PubMed:15531764}; KM=14.3 uM for trans-2,trans-4-hexadienoyl-CoA {ECO:0000269 PubMed:15531764}; Vmax=30.3 umol/min/mg enzyme {ECO:0000269 PubMed:15531764};
UniProtKB/Swiss-Prot CatalyticActivity:
Trans-2,3-didehydroacyl-CoA + NADP(+) = trans,trans-2,3,4,5-tetradehydroacyl-CoA + NADPH.
UniProtKB/Swiss-Prot 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. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA.

Enzyme Numbers (IUBMB) for DECR1 Gene

Phenotypes From GWAS Catalog for DECR1 Gene

Gene Ontology (GO) - Molecular Function for DECR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008670 2,4-dienoyl-CoA reductase (NADPH) activity IDA,IEA 15531764
GO:0016491 oxidoreductase activity IEA --
GO:0016651 oxidoreductase activity, acting on NAD(P)H TAS --
GO:0070402 NADPH binding IDA 15531764
genes like me logo Genes that share ontologies with DECR1: view
genes like me logo Genes that share phenotypes with DECR1: view

Animal Models for DECR1 Gene

MGI Knock Outs for DECR1:

Clone Products

  • Addgene plasmids for DECR1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DECR1 Gene

Localization for DECR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DECR1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DECR1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 3
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DECR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion NAS 7818482
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with DECR1: view

Pathways & Interactions for DECR1 Gene

genes like me logo Genes that share pathways with DECR1: view

Gene Ontology (GO) - Biological Process for DECR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation TAS,IDA --
GO:0051289 protein homotetramerization IDA 15531764
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with DECR1: view

No data available for SIGNOR curated interactions for DECR1 Gene

Drugs & Compounds for DECR1 Gene

(2) Drugs for DECR1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2'-Monophosphoadenosine 5'-Diphosphoribose Experimental Pharma Target 0
6-METHYL-2(PROPANE-1-SULFONYL)-2H-THIENO[3,2-D][1,2,3]DIAZABORININ-1-OL Experimental Pharma Target 0

(3) Additional Compounds for DECR1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
trans-3-Hexenoyl-CoA
  • (E)-S-3-hexenoate
  • (E)-S-3-hexenoate CoA
  • (E)-S-3-hexenoate Coenzyme A
  • (E)-S-3-hexenoic acid
  • 3-trans-Hexenoylcoenzyme A
6599-65-1
genes like me logo Genes that share compounds with DECR1: view

Transcripts for DECR1 Gene

Unigene Clusters for DECR1 Gene

2,4-dienoyl CoA reductase 1, mitochondrial:
Representative Sequences:

Clone Products

  • Addgene plasmids for DECR1

Alternative Splicing Database (ASD) splice patterns (SP) for DECR1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7
SP1: - - - - -
SP2:
SP3: -
SP4:
SP5: -

Relevant External Links for DECR1 Gene

GeneLoc Exon Structure for
DECR1
ECgene alternative splicing isoforms for
DECR1

Expression for DECR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DECR1 Gene

mRNA differential expression in normal tissues according to GTEx for DECR1 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.8) and Liver (x4.5).

Protein differential expression in normal tissues from HIPED for DECR1 Gene

This gene is overexpressed in Heart (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DECR1 Gene



Protein tissue co-expression partners for DECR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DECR1 Gene:

DECR1

SOURCE GeneReport for Unigene cluster for DECR1 Gene:

Hs.492212

mRNA Expression by UniProt/SwissProt for DECR1 Gene:

Q16698-DECR_HUMAN
Tissue specificity: Heart = liver = pancreas > kidney >> skeletal muscle = lung.

Evidence on tissue expression from TISSUES for DECR1 Gene

  • Liver(4.9)
  • Nervous system(4.7)
  • Heart(3.6)
  • Kidney(3.6)
  • Muscle(3.5)
  • Blood(3.3)
  • Lung(3.3)
  • Adrenal gland(3.2)
  • Intestine(3.1)
  • Skin(2.9)
  • Stomach(2.8)
  • Eye(2.6)
  • Pancreas(2.6)
  • Thyroid gland(2.6)
  • Spleen(2.5)
  • Bone marrow(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DECR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
Thorax:
  • lung
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with DECR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for DECR1 Gene

Orthologs for DECR1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DECR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DECR1 33 34
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia DECR1 33 34
  • 90.15 (n)
dog
(Canis familiaris)
Mammalia DECR1 33 34
  • 88.75 (n)
mouse
(Mus musculus)
Mammalia Decr1 33 16 34
  • 82.69 (n)
rat
(Rattus norvegicus)
Mammalia Decr1 33
  • 82.29 (n)
oppossum
(Monodelphis domestica)
Mammalia DECR1 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DECR1 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves DECR1 33 34
  • 78.98 (n)
lizard
(Anolis carolinensis)
Reptilia DECR1 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia decr1 33
  • 71.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22226 33
zebrafish
(Danio rerio)
Actinopterygii decr1 33 34
  • 67.95 (n)
wufe38b07 33
worm
(Caenorhabditis elegans)
Secernentea F53C11.3 35 34
  • 52 (a)
T05C12.3 35
  • 47 (a)
decr-1.3 34
  • 47 (a)
OneToMany
W01C9.4 35
  • 46 (a)
decr-1.2 34
  • 45 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPS19 34
  • 33 (a)
OneToMany
Species where no ortholog for DECR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DECR1 Gene

ENSEMBL:
Gene Tree for DECR1 (if available)
TreeFam:
Gene Tree for DECR1 (if available)

Paralogs for DECR1 Gene

Paralogs for DECR1 Gene

genes like me logo Genes that share paralogs with DECR1: view

Variants for DECR1 Gene

Sequence variations from dbSNP and Humsavar for DECR1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000075698 -- 90,037,904(+) A/G intron_variant
rs1000170335 -- 90,028,774(+) C/G/T intron_variant
rs1000203172 -- 90,028,533(+) T/A intron_variant
rs1000350821 -- 90,025,846(+) T/C intron_variant
rs1000418327 -- 90,018,470(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DECR1 Gene

Variant ID Type Subtype PubMed ID
nsv8365 CNV gain 18304495
esv2759628 CNV gain+loss 17122850

Variation tolerance for DECR1 Gene

Residual Variation Intolerance Score: 44.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DECR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DECR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DECR1 Gene

Disorders for DECR1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for DECR1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
2,4-dienoyl-coa reductase deficiency
  • decrd
chronic granulomatous disease
  • bridges-good syndrome
hyperlysinemia, type i
  • lysine:alpha-ketoglutarate reductase deficiency
retinitis pigmentosa 47
  • rp47
suppurative lymphadenitis
  • suppurative lymphadenopathy
- elite association - COSMIC cancer census association via MalaCards
Search DECR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DECR_HUMAN
  • 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}.

Additional Disease Information for DECR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DECR1: view

No data available for Genatlas for DECR1 Gene

Publications for DECR1 Gene

  1. Molecular cloning and characterization of the human mitochondrial 2,4-dienoyl-CoA reductase gene (DECR). (PMID: 9403065) Helander HM … Hiltunen JK (Genomics 1997) 3 4 22 58
  2. Isolation and characterization of cDNA for human 120 kDa mitochondrial 2,4-dienoyl-coenzyme A reductase. (PMID: 7818482) Koivuranta KT … Hiltunen JK (The Biochemical journal 1994) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 44 58

Products for DECR1 Gene

  • Addgene plasmids for DECR1

Sources for DECR1 Gene

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