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DECR1 Gene

protein-coding   GIFtS: 64
GCID: GC08P091082

2,4-Dienoyl CoA Reductase 1, Mitochondrial


(Previous symbol: DECR)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
2,4-Dienoyl CoA Reductase 1, Mitochondrial1 2     NADPH2
DECR1 2 3     SDR18C12
Member 11     Short Chain Dehydrogenase/Reductase Family 18C, Member 12
Short Chain Dehydrogenase/Reductase Family 18C1     2,4-Dienoyl-CoA Reductase [NADPH]3
2,4-Dienoyl-CoA Reductase, Mitochondrial2     4-Enoyl-CoA Reductase [NADPH]3
4-Enoyl-CoA Reductase2     EC 1.3.1.343

External Ids:    HGNC: 27531   Entrez Gene: 16662   Ensembl: ENSG000001043257   OMIM: 2227455   UniProtKB: Q166983   

Export aliases for DECR1 gene to outside databases

Previous GC identifers: GC08P089445 GC08P090745 GC08P090970 GC08P086223


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, mitochondrial) is a protein-coding gene. Diseases associated with DECR1 include decr deficiency, and 2,4-dienoyl-coa reductase deficiency. GO annotations related to this gene include 2,4-dienoyl-CoA reductase (NADPH) activity and NADPH binding. An important paralog of this gene is HPGD.

UniProtKB/Swiss-Prot: DECR_HUMAN, Q16698
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_008046.17  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DECR1 gene promoter:
         TBP   p53   AP-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DECR1 promoter sequence
   Search Chromatin IP Primers for DECR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DECR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q21.3   Ensembl cytogenetic band:  8q21.3   HGNC cytogenetic band: 8q21.3

DECR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DECR1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P091082:  view genomic region     (about GC identifiers)

Start:
91,013,580 bp from pter      End:
91,064,320 bp from pter
Size:
50,741 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DECR_HUMAN, Q16698 (See protein sequence)
Recommended Name: 2,4-dienoyl-CoA reductase, mitochondrial precursor  
Size: 335 amino acids; 36068 Da
Subunit: Homotetramer
3 PDB 3D structures from and Proteopedia for DECR1:
1W6U (3D)        1W73 (3D)        1W8D (3D)    
Secondary accessions: Q2M304 Q93085

Explore the universe of human proteins at neXtProt for DECR1: NX_Q16698

Explore proteomics data for DECR1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DECR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001350.1  
    ENSEMBL proteins: 
     ENSP00000431045   ENSP00000220764   ENSP00000428533   ENSP00000428701   ENSP00000430561  
     ENSP00000429551   ENSP00000429779   ENSP00000430759   ENSP00000427936   ENSP00000429096  
     ENSP00000428162  
    Reactome Protein details: Q16698

    DECR1 Human Recombinant Protein Products:

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    Novus Biologicals DECR1 Proteins
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    Cloud-Clone Corp. CLIAs for DECR1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SDRC1: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1

    2 InterPro protein domains:
     IPR002347 Glc/ribitol_DH
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q16698

    ProtoNet protein and cluster: Q16698

    2 Blocks protein domains:
    IPB002198 Short-chain dehydrogenase/reductase SDR
    IPB002347 Glucose/ribitol dehydrogenase family signature


    UniProtKB/Swiss-Prot: DECR_HUMAN, Q16698
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2,4-dienoyl-CoA reductase subfamily


    DECR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DECR_HUMAN, Q16698
    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
    Catalytic activity: Trans-2,3-didehydroacyl-CoA + NADP(+) = trans,trans-2,3,4,5-tetradehydroacyl-CoA + NADPH
    Biophysicochemical properties: Kinetic parameters: KM=7.7 uM for NADPH; KM=14.3 uM for
    trans-2,trans-4-hexadienoyl-CoA; Vmax=30.3 umol/min/mg enzyme;

         Genatlas biochemistry entry for DECR1:
    2-4-dienoyl-CoA reductase,mitochondrial,auxiliary enzyme of beta oxidation participating in the metabolism of
    (poly) unsaturated fatty enoyl-CoA esters

         Enzyme Number (IUBMB): EC 1.3.1.341

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00086702,4-dienoyl-CoA reductase (NADPH) activity IDA15531764
    GO:0016491oxidoreductase activity ----
    GO:0016651oxidoreductase activity, acting on NAD(P)H TAS--
    GO:0070402NADPH binding IDA15531764
         
    DECR1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Decr1):
     behavior/neurological  homeostasis/metabolism  liver/biliary system 

    DECR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Decr1tm1Jkh for DECR1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DECR1
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    Gene Editing
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    Sino Biological Human cDNA Clone for DECR1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DECR_HUMAN, Q16698: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus4
    chloroplast3
    cytosol3
    endoplasmic reticulum3
    extracellular3
    plasma membrane3
    cytoskeleton2
    golgi apparatus2
    lysosome2
    peroxisome2
    vacuole2
    endosome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion NAS7818482
    GO:0005759mitochondrial matrix TAS--

    DECR1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DECR1 About    
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    Mitochondrial Fatty Acid Beta-Oxidation0.00
    mitochondrial fatty acid beta-oxidation of unsaturated fatty acids0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Mitochondrial LC-Fatty Acid Beta-Oxidation
    Fatty Acid Beta Oxidation0.35
    4Fatty Acid Biosynthesis
    Fatty Acid Biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for DECR1
        Fatty Acid Beta Oxidation
    Fatty Acid Biosynthesis


    1 Reactome Pathway for DECR1
        mitochondrial fatty acid beta-oxidation of unsaturated fatty acids



    DECR1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DECR1: 
              Fatty Acid Metabolism in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DECR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for DECR1 (Q166983 ENSP000002207644) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTTG1O959973, ENSP000003449364I2D: score=2 STRING: ENSP00000344936
    HGSO149643, ENSP000003312014I2D: score=1 STRING: ENSP00000331201
    ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
    PRKCEQ021563I2D: score=1 
    SLC2A4P146723I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0008152metabolic process ----
    GO:0044255cellular lipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0051289protein homotetramerization IDA15531764

    DECR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DECR1 (DECR)

    3 HMDB Compounds for DECR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    trans-3-Hexenoyl-CoAS-(3E)-3-hexenoate Coenzyme A (see all 9)6599-65-1--

    4 DrugBank Compounds for DECR1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    6-METHYL-2(PROPANE-1-SULFONYL)-2H-THIENO[3,2-D][1,2,3]DIAZABORININ-1-OL-- --target--10592235
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--10592235
    TRICLOSAN-- --target--10592235
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target----



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DECR1 gene: 
    NM_001359.1  

    Unigene Cluster for DECR1:

    2,4-dienoyl CoA reductase 1, mitochondrial
    Hs.492212  [show with all ESTs]
    Unigene Representative Sequence: AK300069
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000519328 ENST00000220764(uc003yek.1 uc011lgd.1) ENST00000517314
    ENST00000521603 ENST00000523447 ENST00000519410 ENST00000517597 ENST00000520859
    ENST00000519007 ENST00000522161(uc011lgc.1) ENST00000521668 ENST00000518725
    ENST00000517761 ENST00000520227 ENST00000522583 ENST00000524326 ENST00000517301
    ENST00000524332
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    Additional mRNA sequence: 

    AK300069.1 BC105080.1 BC105082.1 BC143669.1 L26050.1 U49352.1 

    21 DOTS entries:

    DT.445730  DT.91763290  DT.101988009  DT.100667084  DT.97860593  DT.100667088  DT.101988007  DT.75116801 
    DT.91763289  DT.101988008  DT.121491701  DT.121491703  DT.121491715  DT.121491741  DT.40212783  DT.91763296 
    DT.91763300  DT.95088605  DT.97860596  DT.95351719  DT.99989901 

    Selected AceView cDNA sequences (see all 277):

    W95455 AL524492 BM704268 BU074650 BQ649358 AL691591 BG117078 AA745941 
    CB178663 BU736588 AW303962 BG388603 L26050 AA923602 NM_001359 AA897379 
    BQ575637 BM704355 BE748437 CA488888 H72538 N86006 CB178422 CB161458 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for DECR1    About this scheme

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


    ECgene alternative splicing isoforms for DECR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DECR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCAAGTCTC
    DECR1 Expression
    About this image


    DECR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Ovary (Reproductive System)
             Oviduct
     
     Brain (Nervous System)
             Lateral Ventricle
    DECR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DECR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.492212

    UniProtKB/Swiss-Prot: DECR_HUMAN, Q16698
    Tissue specificity: Heart = liver = pancreas > kidney >> skeletal muscle = lung

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DECR1: 
              Fatty Acid Metabolism in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DECR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DECR1
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    QuantiFast Probe-based Assays in human, mouse, rat DECR1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DECR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for DECR1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Decr11 , 5 2,4-dienoyl CoA reductase 1, mitochondrial1, 5 82.69(n)1
    82.39(a)1
      4 (6.66 cM)5
    674601  NM_026172.31  NP_080448.11 
     159172405 
    chicken
    (Gallus gallus)
    Aves DECR11 2,4-dienoyl CoA reductase 1, mitochondrial 78.98(n)
    82.17(a)
      420218  XM_418328.4  XP_418328.1 
    lizard
    (Anolis carolinensis)
    Reptilia DECR16
    2,4-dienoyl CoA reductase 1, mitochondrial
    75(a)
    1 ↔ 1
    4(21450950-21462995)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.222262 Xenopus laevis transcribed sequence with moderate similarity more 76.7(n)    BU908850.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufe38b072 Transcribed sequence with weak similarity to protein more 74.34(n)    CK028771.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F53C11.33 2,4-dienoyl-CoA reductase 52(a)
    (best of 3)
      V(13785003-13786145)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SPS196
    Peroxisomal 2,4-dienoyl-CoA reductase, auxiliary e...
    33(a)
    1 → many
    XIV(259578-260456) YNL202W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DECR1 gene
    HPGD2  DCXR2  DECR22  CBR42  PECR2  HSD17B142  DHRS22  HSD17B102  
    DHRS42  BDH22  DHRS4L22  HSD17B82  
    4 SIMAP similar genes for DECR1 using alignment to 9 protein entries:     DECR_HUMAN (see all proteins):
    DECR    PECR    DECR2    HSD17B14

    DECR1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DECR1 (see all 1120)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2016641831,2
    C--91021730(+) TTTTT-/TACTGC 1 -- int10--------
    rs113293861,2
    C--91030762(+) CATAG-/TTTTTT 1 -- int10--------
    rs721741221,2
    C--91035615(+) ACAGT-/T/TT  
            
    TTTTT
    1 -- int10--------
    rs78404311,2
    C,F,A,H--91038178(+) ttgtcG/Aaaggc 1 -- int12Minor allele frequency- A:0.00NA 4
    rs1117978961,2
    C,F--91052832(+) TTTTTC/TCTAAT 1 -- int12Minor allele frequency- T:0.10WA 120
    rs1130264671,2
    C,F--91057613(+) TATCCC/TGCGCA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs117825161,2
    H--91058332(+) gctgaA/Gaattc 1 -- int10--------
    rs69874761,2
    C,F,H--91058350(+) cagagC/Agcctc 1 -- int16Minor allele frequency- A:0.06NS EA WA 538
    rs557248621,2
    C,F--91058507(+) AGAAAG/ACTAAA 1 -- int12Minor allele frequency- A:0.06WA 120
    rs726718651,2
    C,F--91058526(+) TAAAAG/AATTAG 1 -- int11Minor allele frequency- A:0.04NA 120

    HapMap Linkage Disequilibrium report for DECR1 (91013580 - 91064320 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DECR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv891183CNV Gain21882294
    nsv8365CNV Gain18304495
    essv345CNV CNV17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DECR1
    DNA2.0 Custom Variant and Variant Library Synthesis for DECR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 222745    OMIM disorders: --

    Selected diseases for DECR1 (see all 26):    
    About MalaCards
    decr deficiency    2,4-dienoyl-coa reductase deficiency    glucosephosphate dehydrogenase deficiency    chronic granulomatous disease
    toxic encephalopathy    hirschsprung's disease    chagas disease    brain disease
    hypercholesterolemia    pertussis    hyperglycemia    malaria
    dementia    tonsillitis    pneumonia    kidney disease
    parkinson's disease    atherosclerosis    diabetes mellitus    hypertension

    15 diseases from the University of Copenhagen DISEASES database for DECR1:
    Chronic granulomatous disease     Hypertension     Atherosclerosis     Diabetes mellitus
    Hyperglycemia     Toxic encephalopathy     Kidney disease     Cancer
    Glucosephosphate dehydrogenase deficiency     Cerebrovascular accident     Lung disease     Malaria
    Parkinson's disease     Heart disease     Alzheimer's disease

    DECR1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DECR1
    Human Genome Epidemiology (HuGE) Navigator: DECR1 (4 documents)

    Export disorders for DECR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DECR1 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with DECR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of cDNA for human 120 kDa mitochondrial 2,4-dienoyl-coenzyme A reductase. (PubMed id 7818482)1, 2, 3 Koivuranta K.T.... Hiltunen J.K. (Biochem. J. 1994)
    2. Molecular cloning and characterization of the human mitochondrial 2,4-dienoyl-CoA reductase gene (DECR). (PubMed id 9403065)1, 2, 9 Helander H.M.... Hiltunen J.K. (Genomics 1997)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
    6. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (Chem. Biol. Interact. 2009)
    7. Calbindin 1, fibroblast growth factor 20, and alpha-synuclein in sporadic Parkinson's disease. (PubMed id 18568448)1, 4 Mizuta I....Toda T. (Hum. Genet. 2008)
    8. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)1, 2 Nusbaum C....Lander E.S. (Nature 2006)
    9. Structure and reactivity of human mitochondrial 2,4-dienoyl-CoA reductase: enzyme-ligand interactions in a distinctive short-chain reductase active site. (PubMed id 15531764)1, 2 Alphey M.S.... Hunter W.N. (J. Biol. Chem. 2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1666 HGNC: 2753 AceView: DECR1 Ensembl:ENSG00000104325 euGenes: HUgn1666
    ECgene: DECR1 H-InvDB: DECR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DECR1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DECR1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DECR1 gene:
    Search GeneIP for patents involving DECR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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