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ECHS1 Gene

protein-coding   GIFtS: 60

GC10M135025
enoyl Coenzyme A hydratase, short chain, 1, mitochondrial
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
EC 4.2.1.17 3
OTTHUMP00000020811 2
SCEH 1, 2, 3, 5
Descriptions
Enoyl-CoA hydratase 1 3
Short chain enoyl-CoA hydratase 3
enoyl Coenzyme A hydratase, short chain, 1, mitochondrial 2
mitochondrial short-chain enoyl-coenzyme A hydratase 1 2
External Ids
HGNC: 31511
Entrez Gene: 18922
UniProtKB: P300843
Ensembl: ENSG000001278847
Search outside databases for aliases for ECHS1 gene

Previous GC identifers: GC10M134090 GC10M134305 GC10M135092 GC10M134649 GC10M135064

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ECHS1:
The protein encoded by this gene functions in the second step of the mitochondrial fatty acid
beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates
to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It
localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription
initiation sites have been described in the literature. [provided by RefSeq]

UniProtKB/Swiss-Prot: ECHM_HUMAN, P30084
Function: Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although
with decreasing catalytic rate

Gene Wiki entry for ECHS1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ECHS1 gene  

Entrez Gene cytogenetic band: 10q26.2-q26.3   Ensembl cytogenetic band:  10q26.3   HGNC cytogenetic band: 10q26.2-q26.3

ECHS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M135025:     (about GC identifiers)

Start:
135,025,980 bp from pter
End:
135,036,898 bp from pter
Size:
10,919 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000010.9  NT_017795.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ECHM_HUMAN, P30084 (See protein sequence)
Recommended Name: Enoyl-CoA hydratase, mitochondrial precursor  
Size: 290 amino acids; 31387 Da
Subunit: Homohexamer; dimer of trimers
Subcellular location: Mitochondrion matrix
PDB structures from and Proteopedia :
2HW5 (3D)    
Secondary accessions: O00739 Q5VWY1 Q96H54

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_004083.3  

    ENSEMBL proteins: 
    ENSP00000357535 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
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    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (ECHS1)
    Human Recombinant Proteins from Abnova (ECHS1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739 mitochondrion TAS16130169
    GO:0005759 mitochondrial matrix IEA--
    About this table

    Antibodies for ECHS1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for ECHS1
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    Antibodies from Abcam (ECHS1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (ECHS1)
    Novus Biologicals Antibodies for ECHS1

    Assays for ECHS1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    2 InterPro domains/families:
     IPR018376 Enoyl-CoA_hyd/isom_CS
     IPR001753 Crotonase_core


       GeneDecks  ECHS1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P30084

    ProtoNet protein and cluster: P30084

    1 Blocks protein family: IPB001753 Enoyl-CoA hydratase/isomerase

    UniProtKB/Swiss-Prot: ECHM_HUMAN, P30084
    Similarity: Belongs to the enoyl-CoA hydratase/isomerase family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ECHS1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ECHS1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004092

                  Applied Biosystems Silencer® siRNAs for ECHS1

                  Sigma-Aldrich siRNA for ECHS1  
                         Sigma-Aldrich shRNA for ECHS1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for ECHS1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_004092
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_004092
                                     untagged cDNA clone in CMV expression vector: NM_004092 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_004092

    UniProtKB/Swiss-Prot: ECHM_HUMAN, P30084
    Function: Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although
    with decreasing catalytic rate
    Catalytic activity: (3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H(2)O
    Enzyme Number (IUBMB): EC 4.2.1.17 

    Genatlas biochemistry entry for ECHS1:
    mitochondrial short chain enoyl-CoA hydratase,fatty acid beta-oxidation
    1 MGI phenotypic allele for Echs1 (no phenotypes)

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004300 enoyl-CoA hydratase activity TAS9073515
    GO:0005515 protein binding IPI17353931
    GO:0016829 lyase activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    5/10 Invitrogen iPath™ Online BioAtlas - Pathways for ECHS1 (see all 10 ) (Maps provided by GeneGo):
     Tryptophan metabolism
     Propionate metabolism. Part II
     Fatty acid oxidation I
     Fatty acid oxidation II
     Fatty acid synthesis I

       GeneDecks  ECHS1 for the pathways selected above  
    About GeneDecksing

    5/9 Sigma-Aldrich "Your Favorite Gene" Pathways for  ECHS1  (Your Favorite Gene powered by Ingenuity) (see all 9
     Fatty Acid Metabolism
     Propanoate Metabolism
     Fatty Acid Elongation in Mitochondria
     Butanoate Metabolism
     &beta

       GeneDecks  ECHS1 for the pathways selected above  
    About GeneDecksing

    5/11 Kegg Pathways  (Kegg details for ECHS1) (see all 11 ):
     hsa00062 Fatty acid elongation in mitochondria
     hsa00071 Fatty acid metabolism
     hsa00280 Valine, leucine and isoleucine degradation
     hsa00310 Lysine degradation
     hsa00380 Tryptophan metabolism

       GeneDecks  ECHS1 for the pathways selected above  
    About GeneDecksing
    UniProtKB/Swiss-Prot: ECHM_HUMAN, P30084
    Pathway: Lipid metabolism; fatty acid beta-oxidation


    5/40 Interacting proteins for ECHS1 (ENSP000003575353 P300841, 2) via UniProtKB, MINT, and/or STRING (see all 40 )

    InteractantInteraction Details
    GeneCardExternal ID(s)
    EPB41P111711EBI-719602, EBI-1050906
    SMURF2Q9HAU42MINT-6503820 MINT-6503970
    CBWD2Q8IUF12MINT-63640
    TRIM63Q969Q12MINT-6503510
    YWHAZP631042MINT-3304365
    About this table

    4 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629 lipid metabolic process IEA--
    GO:0006631 fatty acid metabolic process IEA--
    GO:0006635 fatty acid beta-oxidation TAS9073515
    GO:0008152 metabolic process IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for ECHS1
    2 Novoseek chemical compound relationships for ECHS1 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    fatty acid 49.13 6 18611036 (2), 9073515 (1), 17395278 (1), 8012501 (1)
    superoxide 28.19 2 18647502 (1), 16009011 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ECHS1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ECHS1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004092

                  Sigma-Aldrich siRNA for ECHS1  
                         Sigma-Aldrich shRNA for ECHS1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_004092  

    REFSEQ mRNAs for ECHS1 gene: 

    NM_004092.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_004092  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_004092
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_004092
                                     untagged cDNA clone in CMV expression vector: NM_004092 

    Additional cDNA sequence: 

    BC008906.2 BC013264.1 BT007123.1 CR591080.1 CR591488.1 CR594615.1 CR596739.1 CR597975.1 
    CR605028.1 CR607561.1 CR616268.1 CR626651.1 D13900.1 

    14 DOTS entries:

    DT.452833  DT.97854678  DT.100793942  DT.100793937  DT.100793940  DT.121302314  DT.86855122  DT.95184044 
    DT.95184049  DT.100793939  DT.40133205  DT.91770381  DT.91836671  DT.92326964 

    24/648 AceView cDNA sequences (see all 648 ):

    BI711176 BQ267435 H61138 BQ130562 AA451650 CR596739 CR594615 CR591488 
    CR626651 CR607561 BG475456 BE389121 BQ613910 BF445725 BM508168 BQ214440 
    AI682747 CR605028 CR597975 H42686 F31969 BF568527 AW572477 H44550 

    highest scoring ESTs for ECHS1:

    D13900 AA071211 AA410906 AI815639 AW161032 AW327501 AW408237 BC008906 BC013264 BE019587 

    Unigene Cluster for ECHS1:

    Enoyl Coenzyme A hydratase, short chain, 1, mitochondrial
    Hs.76394  [show with all ESTs]
    Unigene Representative Sequence: NM_004092


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000368547  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    ECHS1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ECHS1

    1 / 2 / 3

    3 probe-sets matching ECHS1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    37016_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 D13900 1.00 1.00 1.00 1

    201135_at2, 3 U133-A 1 1.00 1.00 -- -- NM_004092 0.60 1.00 0.82 1

    201135_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CTGTGCTCGG

    SOURCE GeneReport for Unigene cluster: Hs.76394

    Expression variation in blood from EXPOLDB for ECHS1

    UniProtKB/Swiss-Prot: ECHM_HUMAN, P30084
    Tissue specificity: Liver, fibroblast, muscle. Barely detectable in spleen and kidney

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for ECHS1 gene from 5/14 species (see all 14 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ECHS11   -- enoyl Coenzyme A hydratase, short chain, 1, mitochondrial 85.37(n)
    88.93(a)
    480828  XM_537945.2  XP_537945.2 
    cow
    (Bos taurus)
    ECHS11   -- enoyl Coenzyme A hydratase, short chain, 1, mitochondrial 85.4(n)
    85.52(a)
    281748  NM_001025206.2  NP_001020377.2 
    rat
    (Rattus norvegicus)
    Echs11   -- enoyl Coenzyme A hydratase, short chain, 1, mitochondrial 84.66(n)
    87.2(a)
    140547  NM_078623.2  NP_511178.1 
    mouse
    (Mus musculus)
    Echs11, 5 75
    enoyl Coenzyme A hydratase, short chain, 1, mitochondrial1, 5 85.01(n)1
    87.89(a)1
    937471  NM_053119.21  NP_444349.11 
     AK0403915  AK0449545  (see all 20)
    zebrafish
    (Danio rerio)
    wufj55e052   -- Danio rerio cDNA clone IMAGE6795596, partial cds 73.84(n)  BC055383.1 
    About this table        Species with no ortholog for ECHS1

    ENSEMBL Gene Tree for ECHS1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ECHS1 gene
    ECHDC22  AUH2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/116 NCBI SNPs in ECHS1 are shown (see all 116 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 55)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 10 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    --
    rs111017071,2
    A,C,F,H135025834(+) GTGGCC/TACCCT 1 -- ng514Minor allele frequency- T:0.12EU EA WA 412
    rs46041,2
    A,C,F,H135026081(-) GCCTGT/CGGGTC 1 -- ut31 ese38Minor allele frequency- C:0.09EA MN NA WA 2066
    --
    rs10500401,2
    A,C,F,H135026248(-) CAGTTC/TCTCTC 1 -- ut31 ese38Minor allele frequency- T:0.04EA EU WA NA 2044
    rs10499511,2
    C,F,H135034116(-) GAAGAT/CCTTCG 1 I/T mis16Minor allele frequency- C:0.07MN EU EA WA 640
    --
    rs43003241,2
    A,C135038003(+) tgagcA/Ctagcg 1 -- ng310--------
    --
    rs104661271,2
    C135038509(+) tcatcA/Gtagct 1 -- ng310--------
    --
    rs107326331,2
    C135038328(+) CTTTAC/GTAAAC 1 -- ng310--------
    rs22302611,2
    C,F135030420(-) CTCACC/TGGTGA 1 T/T syn12Minor allele frequency- T:0.12MN NA 112
    --
    rs22302601,2
    F135034112(-) ACCTTC/TGAGGA 1 F/F syn1 ese31Minor allele frequency- T:0.10MN 60
    rs357754731,2
    F135034100(+) ACGGCC/TGGGTC 1 P/P syn11Minor allele frequency- T:0.03NA 76
    About this table

    HapMap Linkage Disequilibrium images for ECHS1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 602292

    2 Novoseek disease relationships for ECHS1 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    sudden infant death syndrome 51.73 1 8012501 (1)
    tumors 0.00 1 8586070 (1)
    About this table

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/27 PubMed articles for ECHS1 gene (see all 27 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 1892 HGNC: 3151 AceView: ECHS1 Ensembl:ENSG00000127884 euGenes: HUgn1892
    ECgene: ECHS1 H-InvDB: ECHS1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for ECHS1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for ECHS1 Antibodies for ECHS1
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
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     Antibodies for ECHS1

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