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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ECHDC1 Gene

protein-coding   GIFtS: 50
GCID: GC06M127609

enoyl CoA hydratase domain containing 1

(Previous name: enoyl Coenzyme A hydratase domain containing 1 )
 Explore 6 diseases affiliated with
ECHDC1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ECHDC1    

Aliases
for ECHDC1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Enoyl CoA Hydratase Domain Containing 11 2     MMCD2 3
DJ351K20.21     Ethylmalonyl-CoA Decarboxylase2
Enoyl Coenzyme A Hydratase Domain Containing 11 2     EC 4.1.1.413
Enoyl-CoA Hydratase Domain-Containing Protein 12 3     EC 4.1.1.943
Methylmalonyl-CoA Decarboxylase2 3     

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


Summaries
for ECHDC1 gene

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




Genomic Views
for ECHDC1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences 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 plasmid: ECHDC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ECHDC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ECHDC1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ECHD1_HUMAN, Q9NTX5 (See protein sequence)
Recommended Name: Ethylmalonyl-CoA decarboxylase  
Size: 307 amino acids; 33698 Da
Subcellular location: Cytoplasm, cytosol (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NTX5

    • ECHDC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

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    Novus Biologicals ECHDC1 Lysates
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    ProSpec Recombinant Protein for ECHDC1
    Uscn Proteins for ECHDC1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    ECHDC1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ECHDC1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ECHDC1 for domains           About GeneDecksing

    2 InterPro domains/families:
     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


    Function
    for ECHDC1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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 activityx 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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: ECHDC1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ECHDC1 (see all 8)
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    Cell Line
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    Search LifeMap BioReagents cell lines for ECHDC1

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECHDC1

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004492methylmalonyl-CoA decarboxylase activity IEA--
    GO:0016831carboxy-lyase activity ISS--
    GO:0016853isomerase activity ----


    ECHDC1 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for ECHDC1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Fatty Acid Biosynthesis
    		Fatty Acid Biosynthesis1.00


    1 BioSystems Pathway for ECHDC1 
        Fatty Acid Biosynthesis


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ECHDC1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5 Interacting proteins for ECHDC1 (Q9NTX53 ENSP000003572784) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WIPI2Q9Y4P83, ENSP000002888284I2D: score=2 STRING: ENSP00000288828
    C12orf44Q9BSB43I2D: score=1 
    CLN3Q132863I2D: score=1 
    DDA1Q9BW613I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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


    ECHDC1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ECHDC1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ECHDC1
    Search CenterWatch for drugs/clinical trials and news about ECHDC1 / ECHD1 

    Transcripts
    for ECHDC1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    18/24 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
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ECHDC1:
    hsa-miR-9 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmid: ECHDC1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/290 AceView cDNA sequences (see all 290):

    BE889195 AA749197 BE896631 AW274249 AI436317 BF055373 BM713351 AA828459 
    AA173464 CR626117 AI263409 BC003549 BU783974 BM923831 BM751383 AL599043 
    BX498153 AA811657 AA228110 AI935034 AA252369 BM543331 NM_018479 AW963648 

    GeneLoc Exon Structure

    5/10 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

    Expression
    for ECHDC1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ECHDC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATCCTACTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ECHDC1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    TestisSeminiferous TubulesSecondary SpermatocyteGerm Cells, Male Gametocytes
    LimbLimb BudLimb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ECHDC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ECHDC1

    SOURCE GeneReport for Unigene cluster: Hs.486410
        SABiosciences Custom PCR Arrays for ECHDC1
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    In Situ
    Assay Products:     
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    Orthologs
    for ECHDC1 gene

    (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
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ECHDC1 gene from 9/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ECHDC11 enoyl CoA hydratase domain containing 1 68.44(n)
    64.54(a)    		   769021  XM_001231582.2  XP_001231583.2 
    lizard
    (Anolis carolinensis)    		 Reptilia CDYL26
    --
    (see all 6)    		 --
    		 8(a)
    8(a)
    (see all 6)    		 possible ortholog
    possible ortholog
    (see all 6)    		 LGc(5620828-5645096)
    GL343209.1(14253-102966)
    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 59.94(n)
    56.3(a)    		   553585  NM_001020563.1  NP_001018399.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG95776
    CG138906
    (see all 3)    		 --
    		 17(a)
    17(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 X(20060706-20062113)
    3L(851346-852673)
    worm
    (Caenorhabditis elegans)    		 Secernentea C32E8.91 Protein C32E8.9 43.63(n)
    30.49(a)    		   171951  NM_058821.4  NP_491222.2 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ECHIA6
    DCI16
    		 delta(3,5),delta(2,4)-dienoyl-CoA isomerase 1
    		 22(a)
    18(a)
    		 possible ortholog
    possible ortholog
    		 4(9176673-9178048)
    5(17367888-17369399)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 enoyl-CoA hydratase/isomerase family protein, puta...
    enoyl-CoA hydratase/isomerase family protein, puta...
    		 19(a)
    17(a)
    		 possible ortholog
    possible ortholog
    		 3(11067660-11070152)
    1(40562487-40565397)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria paaG6
    		 1,2-epoxyphenylacetyl-CoA isomerase, oxepin-CoA-fo...
    		 23(a)
    		 possible ortholog
    		 Chromosome(1456288-1457076)


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

    Paralogs
    for ECHDC1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ECHDC1 gene
    ECHDC22  EHHADH2  AUH2  ECH12  ECHDC32  HADHA2  HADH2  ECHS12  

    ECHDC1 for paralogs           About GeneDecksing



    Genomic Variants
    for ECHDC1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/833 NCBI SNPs in ECHDC1 are shown (see all 833)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs151311,2
    		C--127609414(-) AGACAG/TCAAAG 15 -- ut31 nc-transcript-variantint11Minor allele frequency- T:0.00NA 2
    rs412852641,2
    		C,--127609558(+) GACATT/GTGTGA 15 -- nc-transcript-variantut31 int15Minor allele frequency- G:0.06NA CSA WA EA 361
    rs93210731,2
    		C,H,--127609691(+) ATAAAT/CATGTA 15 -- nc-transcript-variantut31 int110Minor allele frequency- C:0.29NA WA CSA EA 370
    rs1885979551,2
    		--127609708(+) TAAAAC/TTAAAG 15 -- spd1 int10--------
    rs756736291,2
    		F,--127609901(+) CATCTA/GTGGCC 15 -- int1 ut311Minor allele frequency- G:0.03EA 120
    rs66831,2
    		C,F,O,A,H,--127610021(-) ACTTGC/TATTTG 15 -- ut31 int1 ese319Minor allele frequency- T:0.41MN NA NS EA WA CSA 1302
    rs139811,2
    		C,H--127610095(+) GTGATG/AAGTCA 15 -- int1 ut313Minor allele frequency- A:0.00MN NS NA 364
    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--------

    HapMap Linkage Disequilibrium report for ECHDC1 (127609855 - 127664754 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ECHDC1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ECHDC1
    DNA2.0 Custom Variant and Variant Library Synthesis for ECHDC1

    Disorders / Diseases
    for ECHDC1 gene

    (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
    ECHDC1 for disorders           About GeneDecksing

    OMIM gene information: 612136    OMIM disorders: --

    6 diseases for ECHDC1:    About MalaCards
    breast cancer susceptibility    breast-ovarian cancer    breast cancer    ovarian cancer
    prostate cancer    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: ECHDC1 (4 documents)

    Export disorders for ECHDC1 gene to outside databases

    Publications
    for ECHDC1 gene

    (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

    PubMed articles for ECHDC1 gene, integrated from 9 sources (see all 17):
    (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. (2011)
    2. 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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations. (PubMed id 20407466)1 Enciso-Mora V....Houlston R.S. (2010)
    10. Evaluation of 11 breast cancer susceptibility loci in African-American women. (PubMed id 19789366)1 Zheng W....Blot W.J. (2009)

    External Searches for ECHDC1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    Genome Databases showing ECHDC1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55862 HGNC: 21489 AceView: ECHDC1 Ensembl:ENSG00000093144 euGenes: HUgn55862
    ECgene: ECHDC1 H-InvDB: ECHDC1

    Other Databases showing ECHDC1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ECHDC1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ECHDC1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ECHDC1 gene

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



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