Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ECHDC1 Gene

protein-coding   GIFtS: 52
GCID: GC06M127609

Enoyl CoA Hydratase Domain Containing 1

(Previous name: enoyl Coenzyme A hydratase domain containing 1)
  Search for ECHDC1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Enoyl CoA Hydratase Domain Containing 11 2     dJ351K20.22
Enoyl Coenzyme A Hydratase Domain Containing 11 2     Epididymis Secretory Protein Li 762
Enoyl-CoA Hydratase Domain-Containing Protein 12 3     Ethylmalonyl-CoA Decarboxylase2
Methylmalonyl-CoA Decarboxylase2 3     EC 4.1.1.413
MMCD2 3     EC 4.1.1.943
HEL-S-762     

External Ids:    HGNC: 214891   Entrez Gene: 558622   Ensembl: ENSG000000931447   OMIM: 6121365   UniProtKB: Q9NTX53   

Export aliases for ECHDC1 gene to outside databases

Previous GC identifers: GC06M127590 GC06M127591 GC06M127651 GC06M125186


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

TryGeneCards Plus

GeneCards Summary for ECHDC1 Gene:
ECHDC1 (enoyl CoA hydratase domain containing 1) is a protein-coding gene. GO annotations related to this gene include carboxy-lyase activity and methylmalonyl-CoA decarboxylase activity.

UniProtKB/Swiss-Prot: ECHD1_HUMAN, Q9NTX5
Function: Decarboxylases ethylmalonyl-CoA decarboxylase, a potentially toxic metabolite, to form butyryl-CoA,
suggesting it might be involved in metabolite proofreading. Also has methylmalonyl-CoA decarboxylase activity at
lower level




(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ECHDC1 gene promoter:
         AREB6   GATA-3   FOXJ2 (long isoform)   FOXJ2   GATA-1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidECHDC1 promoter sequence
   Search Chromatin IP Primers for ECHDC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ECHDC1


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

Entrez Gene cytogenetic band: 6q22.33   Ensembl cytogenetic band:  6q22.33   HGNC cytogenetic band: 6q22.33

ECHDC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ECHDC1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M127609:  view genomic region     (about GC identifiers)

Start:
127,609,855 bp from pter      End:
127,664,754 bp from pter
Size:
54,900 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ECHD1_HUMAN, Q9NTX5 (See protein sequence)
Recommended Name: Ethylmalonyl-CoA decarboxylase  
Size: 307 amino acids; 33698 Da
Sequence caution: Sequence=AAF67657.1; Type=Frameshift; Positions=121, 123, 125; Sequence=CAI20295.1;
Type=Erroneous gene model prediction; Sequence=CAI20297.1; Type=Erroneous gene model prediction;
Secondary accessions: A6NFJ5 B7Z8S0 E9PEN7 E9PR31 F8W851 Q5TEF6 Q5TEF7 Q5TEG0 Q5TEG4 Q9NZ30
Alternative splicing: 6 isoforms:  Q9NTX5-1   Q9NTX5-2   Q9NTX5-3   Q9NTX5-4   Q9NTX5-5   Q9NTX5-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ECHDC1: NX_Q9NTX5

Explore proteomics data for ECHDC1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys210
  • Modification sites at PhosphoSitePlus

  • See ECHDC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001002030.1  NP_001099014.1  NP_001099015.1  NP_001132982.1  NP_060949.2  

    ENSEMBL proteins: 
     ENSP00000401751   ENSP00000436585   ENSP00000434908   ENSP00000357278   ENSP00000436109  
     ENSP00000404866   ENSP00000420711   ENSP00000357274   ENSP00000402492   ENSP00000357272  
     ENSP00000396096   ENSP00000436703   ENSP00000399233   ENSP00000432265   ENSP00000433015  
     ENSP00000435068   ENSP00000435502   ENSP00000433874   ENSP00000434143   ENSP00000311115  

    ECHDC1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ECHDC1
    OriGene Protein Over-expression Lysate for ECHDC1
    OriGene MassSpec for ECHDC1
    OriGene Custom Protein Services for ECHDC1
    GenScript Custom Purified and Recombinant Proteins Services for ECHDC1
    Novus Biologicals ECHDC1 Proteins
    Novus Biologicals ECHDC1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ECHDC1
    Cloud-Clone Corp. Proteins for ECHDC1

     
    Search eBioscience for Proteins for ECHDC1 

    ECHDC1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ECHDC1
    Novus Biologicals ECHDC1 Antibodies
    Abcam antibodies for ECHDC1
    Cloud-Clone Corp. Antibodies for ECHDC1
    ThermoFisher Antibodies for ECHDC1
    LSBio Antibodies in human, mouse, rat for ECHDC1

    ECHDC1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ECHDC1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ECHDC1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ECHDC1
    Cloud-Clone Corp. CLIAs for ECHDC1
    Search eBioscience for ELISAs for ECHDC1 


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

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR018376 Enoyl-CoA_hyd/isom_CS
     IPR001753 Crotonase_core_superfam

    Graphical View of Domain Structure for InterPro Entry Q9NTX5

    ProtoNet protein and cluster: Q9NTX5

    UniProtKB/Swiss-Prot: ECHD1_HUMAN, Q9NTX5
    Similarity: Belongs to the enoyl-CoA hydratase/isomerase family


    Find genes that share domains with ECHDC1           About GenesLikeMe


    (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, 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ECHD1_HUMAN, Q9NTX5
    Function: Decarboxylases ethylmalonyl-CoA decarboxylase, a potentially toxic metabolite, to form butyryl-CoA,
    suggesting it might be involved in metabolite proofreading. Also has methylmalonyl-CoA decarboxylase activity at
    lower level
    Catalytic activity: (S)-ethylmalonyl-CoA = butanoyl-CoA + CO(2)
    Catalytic activity: (S)-methylmalonyl-CoA = propanoyl-CoA + CO(2)

         Enzyme Numbers (IUBMB): EC 4.1.1.411 EC 4.1.1.941

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004492methylmalonyl-CoA decarboxylase activity IEA--
    GO:0016831carboxy-lyase activity ISS--
         
    Find genes that share ontologies with ECHDC1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ECHDC1:
     Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ECHDC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ECHDC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ECHDC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ECHDC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ECHDC1:
    hsa-mir-15a-5p (MIRT000835), hsa-mir-196a-5p (MIRT048213), hsa-mir-16-5p (MIRT000834)

    Block miRNA regulation of human, mouse, rat ECHDC1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ECHDC1:
    hsa-miR-9 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidECHDC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ECHDC1
    Predesigned siRNA for gene silencing in human, mouse, rat ECHDC1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ECHDC1

    Clone
    Products:
         
    OriGene clones in human, mouse for ECHDC1 (see all 28)
    OriGene ORF clones in mouse, rat for ECHDC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): ECHDC1 (NM_001002030)
    Sino Biological Human cDNA Clone for ECHDC1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ECHDC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ECHDC1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ECHDC1
    Browse ESI BIO Cell Lines and PureStem Progenitors for ECHDC1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECHDC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ECHD1_HUMAN, Q9NTX5: Cytoplasm, cytosol (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol ISS--

    Find genes that share ontologies with ECHDC1           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).
    About This Section

    TryGeneCards Plus

    SuperPaths for ECHDC1 About    
    See pathways by source

    SuperPathContained pathways About
    1Fatty Acid Biosynthesis
    Fatty Acid Biosynthesis


    1 BioSystems Pathway for ECHDC1
        Fatty Acid Biosynthesis



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ECHDC1
    Interactions:

        Search GeneGlobe Interaction Network for ECHDC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for ECHDC1 (Q9NTX53 ENSP000003572784) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WIPI2Q9Y4P83, ENSP000002888284I2D: score=2 STRING: ENSP00000288828
    ATG101Q9BSB43I2D: score=1 
    CLN3Q132863I2D: score=1 
    DDA1Q9BW613I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process ----

    Find genes that share ontologies with ECHDC1           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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ECHDC1 (ECHD1)



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ECHDC1 gene (5 alternative transcripts): 
    NM_001002030.1  NM_001105544.1  NM_001105545.1  NM_001139510.1  NM_018479.3  

    Unigene Cluster for ECHDC1:

    Enoyl CoA hydratase domain containing 1
    Hs.486410  [show with all ESTs]
    Unigene Representative Sequence: NM_001002030
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000454859(uc003qaz.4 uc010key.3 uc003qay.4 uc010kez.3)
    ENST00000531967(uc003qax.3) ENST00000474289 ENST00000368295 ENST00000528402
    ENST00000454591 ENST00000479525 ENST00000368291 ENST00000475319 ENST00000430841
    ENST00000368289 ENST00000417628 ENST00000368292 ENST00000488087 ENST00000436638
    ENST00000460558 ENST00000461239 ENST00000525745
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ECHDC1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ECHDC1:
    hsa-miR-9 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidECHDC1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ECHDC1
    Predesigned siRNA for gene silencing in human, mouse, rat ECHDC1
    Clone
    Products:
         
    OriGene clones in human, mouse for ECHDC1 (see all 28)
    OriGene ORF clones in mouse, rat for ECHDC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): ECHDC1 (NM_001002030)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ECHDC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ECHDC1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ECHDC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ECHDC1
      QuantiTect SYBR Green Assays in human, mouse, rat ECHDC1
      QuantiFast Probe-based Assays in human, mouse, rat ECHDC1

    Additional mRNA sequence: 

    AF220192.1 AK025760.1 AK025796.1 AK055024.1 AK303812.1 AL834469.1 BC003549.1 

    18 DOTS entries:

    DT.95124236  DT.217930  DT.95124237  DT.100824550  DT.100771406  DT.80100288  DT.100824542  DT.121323233 
    DT.91729282  DT.40131872  DT.95124239  DT.100824541  DT.100824548  DT.121323279  DT.100683477  DT.121323254 
    DT.439327  DT.91890733 

    Selected AceView cDNA sequences (see all 290):

    BU783974 CB127090 BC003549 AU280340 BM923831 BM836458 BU617039 AI264027 
    AA488083 CA952518 W20156 AA278205 AW963648 BE896631 NM_018479 AA828459 
    BM800549 AA252369 AW966173 AW614429 AL599043 BM543331 BX099655 BQ773738 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ECHDC1 (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c · 11d · 11e · 11f
    SP1:                                      -                 -                 -                                       
    SP2:                                                  -     -                                                         
    SP3:                                      -           -     -                 -                                       
    SP4:                                                                                                                  
    SP5:              -     -     -           -           -     -                 -                                       


    ECgene alternative splicing isoforms for ECHDC1

    (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)
    About This Section

    TryGeneCards Plus

    ECHDC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCCTACTGT
    ECHDC1 Expression
    About this image


    ECHDC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Adipose (Muscoskeletal System)
             White adipocyte-like cells
     
     Gonad
             Secondary Spermatocyte Seminiferous Tubules
     
     Mesoderm (Gastrulation Derivatives)
             Limb Bud Mesenchyme Cells Limb Bud
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Testis (Reproductive System)
             Secondary Spermatocyte Seminiferous Tubules
    ECHDC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ECHDC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.486410
        Custom PCR Arrays for ECHDC1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ECHDC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ECHDC1
    QuantiTect SYBR Green Assays in human, mouse, rat ECHDC1
    QuantiFast Probe-based Assays in human, mouse, rat ECHDC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECHDC1

    (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)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for ECHDC1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Echdc11 , 5 enoyl Coenzyme A hydratase domain containing 11, 5 82.5(n)1
    82.72(a)1
      10 (16.59 cM)5
    526651  NM_025855.41  NP_080131.41 
     293131665 
    chicken
    (Gallus gallus)
    Aves ECHDC11 enoyl CoA hydratase domain containing 1 67.34(n)
    62.08(a)
      769021  XM_001231582.3  XP_001231583.3 
    lizard
    (Anolis carolinensis)
    Reptilia ECHDC16
    enoyl CoA hydratase domain containing 1
    60(a)
    1 ↔ 1
    GL343681.1(204801-230877)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.173672 Transcribed sequence with weak similarity to protein more 78.46(n)    142007689 
    zebrafish
    (Danio rerio)
    Actinopterygii echdc11 enoyl Coenzyme A hydratase domain containing 1 59.66(n)
    57.14(a)
      553585  NM_001020563.2  NP_001018399.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C32E8.91 C32E8.9 43.77(n)
    30.89(a)
      171951  NM_058821.5  NP_491222.2 


    ENSEMBL Gene Tree for ECHDC1 (if available)
    TreeFam Gene Tree for ECHDC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
      --

    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ECHDC1 (see all 972)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1932781671,2
    --127610230(+) GTTTTG/TCAGGA 5 -- ut310--------
    rs784425221,2
    C,F--127610820(+) AGATTA/GCGCAG 5 -- ut311Minor allele frequency- G:0.02NA 120
    rs1841744621,2
    --127610821(+) GATTAC/TGCAGT 5 -- ut310--------
    rs1881911651,2
    --127610825(+) ACGCAA/GTAAAT 5 -- ut310--------
    rs1915974831,2
    --127610834(+) ATACCC/GAAGTG 5 -- ut310--------
    rs1500462331,2
    --127610871(+) GAGTTA/CAGATA 5 -- ut310--------
    rs1841344421,2
    C--127610896(+) AGTAAA/GTCTGC 5 -- ut310--------
    rs2000010101,2
    --127610985(+) GCTTTA/GCTTGG 5 -- ut310--------
    rs1887066601,2
    C--127611010(+) AAAAAC/TCAATT 5 -- ut310--------
    rs2016322381,2
    C--127611098(+) TCGTTA/CTGTAA 8 Q H mis1 ut310--------

    HapMap Linkage Disequilibrium report for ECHDC1 (127609855 - 127664754 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ECHDC1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ECHDC1
    DNA2.0 Custom Variant and Variant Library Synthesis for ECHDC1

    (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.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 612136    OMIM disorders: --


    Find genes that share disorders with ECHDC1           About GenesLikeMe

    Genetic Association Database (GAD): ECHDC1
    Human Genome Epidemiology (HuGE) Navigator: ECHDC1 (4 documents)

    Export disorders for ECHDC1 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)
    About This Section

    TryGeneCards Plus

    PubMed articles for ECHDC1 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with ECHDC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading. (PubMed id 22016388)1, 2, 3 Linster C.L.... Van Schaftingen E. (J. Biol. Chem. 2011)
    2. Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations. (PubMed id 20407466)1, 4 Enciso-Mora V....Houlston R.S. (Eur. J. Hum. Genet. 2010)
    3. The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women. (PubMed id 19517271)1, 4 Menachem T.D.... Friedman E. (Fam. Cancer 2009)
    4. Evaluation of 11 breast cancer susceptibility loci in African-American women. (PubMed id 19789366)1, 4 Zheng W....Blot W.J. (amp 2009)
    5. Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. (PubMed id 18326623)1, 4 Gold B.... Offit K. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 55862 HGNC: 21489 AceView: ECHDC1 Ensembl:ENSG00000093144 euGenes: HUgn55862
    ECgene: ECHDC1 H-InvDB: ECHDC1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ECHDC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ECHDC1 gene:
    Search GeneIP for patents involving ECHDC1

    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, LSBio, eBioscience, 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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for ECHDC1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for ECHDC1  
     OriGene MassSpec something-or-other for ECHDC1   OriGene clones in human, mouse for ECHDC1  
     OriGene qSTAR qPCR primer pairs in human, mouse for ECHDC1   OriGene Purified Protein for ECHDC1  
     OriGene ORF clones in mouse, rat for ECHDC1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ECHDC1   OriGene Custom Protein Services for ECHDC1  

     
     
     Block miRNA regulation of human, mouse, rat ECHDC1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ECHDC1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ECHDC1 Predesigned siRNA for gene silencing in human, mouse, rat ECHDC1
     QuantiFast Probe-based Assays in human, mouse, rat ECHDC1 QuantiTect SYBR Green Assays in human, mouse, rat ECHDC1
     Custom PCR Arrays for ECHDC1 Search Chromatin IP Primers for ECHDC1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ECHDC1  Search GeneGlobe Interaction Network for ECHDC1
     Regulatory tfbs in ECHDC1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for ECHDC1 GenScript cDNA clones with any tag delivered in your preferred vector for ECHDC1
     GenScript Custom Assay Services for ECHDC1 GenScript Custom overexpressing Cell Line Services for ECHDC1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for ECHDC1 (ECHD1)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for ECHDC1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ECHDC1 antibodies
     ECHDC1 proteins
     ECHDC1 lysates
     Antibodies for ECHDC1
     See all of Abcam's Antibodies, Kits and Proteins for ECHDC1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for ECHDC1
     Proteins for ECHDC1
     Antibodies for ECHDC1
     ELISAs for ECHDC1
     CLIAs for ECHDC1



     Browse ESI BIO Cell Lines and PureStem Progenitors for ECHDC1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECHDC1
     SwitchGear 3'UTR luciferase reporter plasmids for ECHDC1
     SwitchGear Promoter luciferase reporter plasmids for ECHDC1
     ThermoFisher Antibodies for ECHDC1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ECHDC1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ECHDC1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ECHDC1
     LSBio Antibodies in human, mouse, rat for ECHDC1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for ECHDC1
      Search eBioscience for proteins for ECHDC1
      Search eBioscience for elisas for ECHDC1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ECHDC1 gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4