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ECH1 Gene

protein-coding   GIFtS: 65
GCID: GC19M039306

Enoyl CoA Hydratase 1, Peroxisomal

(Previous names: enoyl Coenzyme A hydratase 1, peroxisomal)
  See ECH1-related disease
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
Enoyl CoA Hydratase 1, Peroxisomal1 2     Delta3,5-Delta2,4-Dienoyl-CoA Isomerase2
Enoyl Coenzyme A Hydratase 1, Peroxisomal1 2     Dienoyl-CoA Isomerase2
HPXEL2     Peroxisomal Enoyl-CoA Hydratase 12
Delta(3,5)-Delta(2,4)-Dienoyl-CoA Isomerase, Mitochondrial2     EC 5.3.3.-3

External Ids:    HGNC: 31491   Entrez Gene: 18912   Ensembl: ENSG000001048237   OMIM: 6006965   UniProtKB: Q130113   

Export aliases for ECH1 gene to outside databases

Previous GC identifers: GC19M039918 GC19M039697 GC19M043982 GC19M043997 GC19M035752


(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 ECH1 Gene:
This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity
to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of
these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the
peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can
isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a
delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid
beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. (provided by RefSeq,
Jul 2008)

GeneCards Summary for ECH1 Gene:
ECH1 (enoyl CoA hydratase 1, peroxisomal) is a protein-coding gene. Diseases associated with ECH1 include myotonic dystrophy type 2. GO annotations related to this gene include isomerase activity and receptor binding. An important paralog of this gene is CDY2A.

UniProtKB/Swiss-Prot: ECH1_HUMAN, Q13011
Function: Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA (By similarity)

Gene Wiki entry for ECH1 Gene


(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 at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ECH1 gene promoter:
         TBP   Pax-5   p300   ATF-2   MZF-1   CREB   PPAR-gamma1   deltaCREB   c-Jun   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidECH1 promoter sequence
   Search Chromatin IP Primers for ECH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ECH1


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1

ECH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ECH1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M039306:  view genomic region     (about GC identifiers)

Start:
39,306,062 bp from pter      End:
39,322,645 bp from pter
Size:
16,584 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ECH1_HUMAN, Q13011 (See protein sequence)
Recommended Name: Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial precursor  
Size: 328 amino acids; 35816 Da
Subunit: Homohexamer (By similarity)
1 PDB 3D structure from and Proteopedia for ECH1:
2VRE (3D)    
Secondary accessions: A8K745 Q8WVX0 Q96EZ9

Explore the universe of human proteins at neXtProt for ECH1: NX_Q13011

Explore proteomics data for ECH1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys214, Lys231, Lys276
  • Modification sites at PhosphoSitePlus

  • See ECH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001389.2  
    ENSEMBL proteins: 
     ENSP00000221418   ENSP00000472322   ENSP00000470839   ENSP00000470809   ENSP00000469354  
     ENSP00000471738   ENSP00000472378   ENSP00000470519  

    ECH1 Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for ECH1
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    ProSpec Recombinant Protein for ECH1
    Cloud-Clone Corp. Proteins for ECH1

     
    Search eBioscience for Proteins for ECH1 

     
    antibodies-online proteins for ECH1 (7 products) 

     
    antibodies-online peptides for ECH1

    ECH1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ECH1
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    antibodies-online antibodies for ECH1 (38 products) 

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    antibodies-online kits for ECH1 (3 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR018376 Enoyl-CoA_hyd/isom_CS
     IPR001753 Crotonase_core_superfam
     IPR014748 Crontonase_C

    Graphical View of Domain Structure for InterPro Entry Q13011

    ProtoNet protein and cluster: Q13011

    UniProtKB/Swiss-Prot: ECH1_HUMAN, Q13011
    Similarity: Belongs to the enoyl-CoA hydratase/isomerase family


    Find genes that share domains with ECH1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ECH1_HUMAN, Q13011
    Function: Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA (By similarity)

         Genatlas biochemistry entry for ECH1:
    peroxisomal matrix protein,enoyl-CoA hydratase-like

         Enzyme Number (IUBMB): EC 5.3.3.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005102receptor binding IPI--
    GO:0005515protein binding IPI15383276
    GO:0016853isomerase activity IEA--
         
    Find genes that share ontologies with ECH1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ECH1:
     Increased G1 DNA content  Synthetic lethal with Ras 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ECH1

    miRNA
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    miRTarBase miRNAs that target ECH1:
    hsa-mir-186-5p (MIRT045040), hsa-mir-193b-3p (MIRT016583), hsa-mir-23b-3p (MIRT046350), hsa-mir-320a (MIRT044420), hsa-mir-26b-5p (MIRT029968), hsa-mir-378a-3p (MIRT043922), hsa-mir-340-5p (MIRT019571)

    Block miRNA regulation of human, mouse, rat ECH1 using miScript Target Protectors
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    Addgene plasmids for ECH1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECH1


    (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
    ECH1_HUMAN, Q13011: Mitochondrion (By similarity). Peroxisome (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    peroxisome5
    mitochondrion4
    cytosol1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome NAS7558027
    GO:0070062extracellular vesicular exosome IDA--

    Find genes that share ontologies with ECH1           About GenesLikeMe


    (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 ECH1 About    
    See pathways by source

    SuperPathContained pathways About
    1Valproic Acid Pathway, Pharmacokinetics
    Valproic Acid Pathway, Pharmacokinetics
    2Peroxisome
    Peroxisome
    3Fatty Acid Biosynthesis
    Fatty Acid Biosynthesis


    Find genes that share SuperPaths with ECH1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ECH1
        Fatty Acid Biosynthesis


    1 PharmGKB Pathway for ECH1
        Valproic Acid Pathway, Pharmacokinetics

    1 Kegg Pathway  (Kegg details for ECH1):
        Peroxisome

    UniProtKB/Swiss-Prot: ECH1_HUMAN, Q13011
    Pathway: Lipid metabolism; fatty acid beta-oxidation

        Pathway & Disease-focused RT2 Profiler PCR Array including ECH1: 

              PPAR Targets in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ECH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ECH1 (Q130111, 2, 3 ENSP000002214184) via UniProtKB, MINT, STRING, and/or I2D (see all 280)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EEF1GP266412, 3MINT-3980625 MINT-63613 I2D: score=6 
    CSTF2P332402, 3MINT-63678 I2D: score=5 
    PAFAH1B3Q151022, 3MINT-64215 I2D: score=5 
    SERPINB9P504532, 3MINT-63827 I2D: score=5 
    MRRFQ96E112, 3MINT-8079030 I2D: score=4 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation IEA--
    GO:0008152metabolic process ----

    Find genes that share ontologies with ECH1           About GenesLikeMe



    (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 ECH1

    1 HMDB Compound for ECH1    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-trans,5-cis-Octadienoyl-CoAS-[(3E,5Z)-3,5-octadienoate Coenzyme A (see all 4)214769-63-81495956



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ECH1 gene: 
    NM_001398.2  

    Unigene Cluster for ECH1:

    Enoyl CoA hydratase 1, peroxisomal
    Hs.196176  [show with all ESTs]
    Unigene Representative Sequence: BI765051
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000601333 ENST00000221418(uc002oji.3 uc010xuk.1) ENST00000594391
    ENST00000601778 ENST00000598707 ENST00000594164 ENST00000600178 ENST00000601060
    ENST00000598316 ENST00000595470 ENST00000597089 ENST00000596118 ENST00000601094
    ENST00000597805 ENST00000597205 ENST00000595567 ENST00000602115
    miRNA
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    Addgene plasmids for ECH1 
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      QuantiTect SYBR Green Assays in human, mouse, rat ECH1
      QuantiFast Probe-based Assays in human, mouse, rat ECH1

    Additional mRNA sequence: 

    AK291860.1 AY927476.1 BC011792.2 BC014786.1 BC017408.1 U16660.1 

    Selected DOTS entries (see all 29):

    DT.75174730  DT.95097900  DT.100045126  DT.100873390  DT.100873375  DT.100873391  DT.121453531  DT.91764374 
    DT.100873373  DT.95171557  DT.92055209  DT.121453634  DT.95171554  DT.121453566  DT.95171567  DT.95171569 
    DT.95299255  DT.100873381  DT.92441002  DT.100802315  DT.100835287  DT.100873382  DT.101985500  DT.102833787 

    Selected AceView cDNA sequences (see all 889):

    CB268506 BE613773 BQ225445 BQ690329 AI581809 BU615931 AI174784 BQ437897 
    AW328522 AI701188 BV177689 BX417514 CF127702 BM708532 CB147811 CR603672 
    CB161353 BX395804 BM974528 BQ424824 BM694226 AA313933 CD611419 BX353730 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ECH1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c
    SP1:                                -     -                             -                 -           -                 -                           
    SP2:                                -     -                             -                 -           -                                             
    SP3:                                -     -           -     -     -     -     -           -           -                 -                           
    SP4:                                      -                             -                 -           -                                             
    SP5:                                                                                      -           -                 -                           


    ECgene alternative splicing isoforms for ECH1

    (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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    ECH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCAGACCC
    ECH1 Expression
    About this image


    ECH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    ECH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ECH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.196176
        Pathway & Disease-focused RT2 Profiler PCR Array including ECH1: 
              PPAR Targets in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECH1

    (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 eukaryotes.

    Orthologs for ECH1 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ech11 , 5 enoyl coenzyme A hydratase 1, peroxisomal1, 5 79.92(n)1
    74.31(a)1
      7 (16.94 cM)5
    517981  NM_016772.11  NP_058052.11 
     288252175 
    chicken
    (Gallus gallus)
    Aves ECH11 enoyl CoA hydratase 1, peroxisomal 67.91(n)
    64.18(a)
      100858352  XM_003643838.2  XP_003643886.1 
    lizard
    (Anolis carolinensis)
    Reptilia ECH16
    enoyl CoA hydratase 1, peroxisomal
    62(a)
    1 ↔ 1
    GL343665.1(57203-83710)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.248142 Xenopus laevis transcribed sequence with weak similarity more 73.86(n)    CF521138.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.149982 Transcribed sequence with weak similarity to protein more 71.77(n)    CF266394.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG95771 , 3 delta,5-delta2,4-dienoyl-CoA isomerase3
    CG95771
    49(a)3
    61.15(n)1
    53.6(a)1
      19B33
    330161  NM_134531.41  NP_608375.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F58A6.11 , 3 F58A6.11 43(a)
    (best of 2)3
    51.04(n)1
    45.79(a)1
      II(5142741-5143928)3
    1864861  NM_062553.41  NP_494954.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DCI11 DCI1 47.3(n)
    45.22(a)
      834346  NM_123694.3  NP_199142.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g09252001 Os01g0925200 53.55(n)
    43.75(a)
      4327232  NM_001051789.1  NP_001045254.1 


    ENSEMBL Gene Tree for ECH1 (if available)
    TreeFam Gene Tree for ECH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ECH1 gene
    CDY2A2  ECI22  CDY2B2  CDYL22  AUH2  ECHDC32  ECHS12  CDY1B2  
    ECHDC22  CDYL2  CDY12  
    1 SIMAP similar gene for ECH1 using alignment to 8 protein entries:     ECH1_HUMAN (see all proteins):
    ECHDC2

    Find genes that share paralogs with ECH1           About GenesLikeMe



    (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 ECH1 (see all 481)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1161736001,2
    C,F--39305745(+) GAGACG/ACCAGC 1 -- int11Minor allele frequency- A:0.06WA 118
    rs793096441,2
    C,F--39305883(+) CCCTCC/TGCCCC 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1478309161,2
    C--39306002(+) TCTCT-/GGAGCC 1 -- int10--------
    rs2008752471,2
    C--39306064(+) AGGTT-/CTTTA 
            
    CTTTG
    1 -- ut310--------
    rs2017809041,2
    C--39306068(-) CAAAGC/TAAAGA 1 -- ut310--------
    rs11385261,2
    C--39306086(-) ACCCCA/CCAAAC 1 -- ut311Minor allele frequency- C:0.00NA 2
    rs1868663131,2
    --39306155(+) GGGTCA/GGAAGG 1 -- ut310--------
    rs1445217641,2
    F--39306310(+) TGGACC/TGACTT 2 S syn11Minor allele frequency- T:0.00NA 4550
    rs20755881,2
    C,F,H--39306425(-) TGCTCT/GCATGC 1 -- int129Minor allele frequency- G:0.46EA NS NA WA CSA 3803
    rs1927451081,2
    C--39306475(+) TGTGAT/CTGGTC 1 -- int11Minor allele frequency- C:0.00EU 1305

    HapMap Linkage Disequilibrium report for ECH1 (39306062 - 39322645 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ECH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3859n71CNV Loss21882294
    nsv9722CNV Gain18304495
    nsv911670CNV Gain21882294
    nsv7307OTHER Inversion18451855
    nsv175OTHER Inversion15895083

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ECH1
    DNA2.0 Custom Variant and Variant Library Synthesis for ECH1

    (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: 600696    OMIM disorders: --

    1 disease for ECH1:    
    About MalaCards
    myotonic dystrophy type 2


    Find genes that share disorders with ECH1           About GenesLikeMe

    Genetic Association Database (GAD): ECH1
    Human Genome Epidemiology (HuGE) Navigator: ECH1 (1 document)

    Export disorders for ECH1 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 ECH1 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with ECH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase. (PubMed id 7558027)1, 2, 3, 9 Fitzpatrick D.R.... Valle D. (Genomics 1995)
    2. 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)
    3. 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)
    4. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    9. Nuclear import of histone deacetylase 5 by requisite nuclear localization signal phosphorylation. (PubMed id 21081666)1 Greco T.M....Cristea I.M. (amp 2011)
    10. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)

    (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: 1891 HGNC: 3149 AceView: ECH1 Ensembl:ENSG00000104823 euGenes: HUgn1891
    ECgene: ECH1 Kegg: 1891 H-InvDB: ECH1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for ECH1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ECH1 gene:
    Search GeneIP for patents involving ECH1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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