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Aliases for ECHDC3 Gene

Aliases for ECHDC3 Gene

  • Enoyl-CoA Hydratase Domain Containing 3 2 3 5
  • Enoyl Coenzyme A Hydratase Domain Containing 3 2

External Ids for ECHDC3 Gene

Previous GeneCards Identifiers for ECHDC3 Gene

  • GC10P011788
  • GC10P011824
  • GC10P011702
  • GC10P011784

Summaries for ECHDC3 Gene

GeneCards Summary for ECHDC3 Gene

ECHDC3 (Enoyl-CoA Hydratase Domain Containing 3) is a Protein Coding gene. Among its related pathways are Fatty Acid Biosynthesis (WikiPathways). An important paralog of this gene is CDY1B.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ECHDC3 Gene

Genomics for ECHDC3 Gene

Regulatory Elements for ECHDC3 Gene

Promoters for ECHDC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ECHDC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ECHDC3 Gene

Chromosome:
10
Start:
11,742,357 bp from pter
End:
11,764,070 bp from pter
Size:
21,714 bases
Orientation:
Plus strand

Genomic View for ECHDC3 Gene

Genes around ECHDC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECHDC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECHDC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECHDC3 Gene

Proteins for ECHDC3 Gene

  • Protein details for ECHDC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DC8-ECHD3_HUMAN
    Recommended name:
    Enoyl-CoA hydratase domain-containing protein 3, mitochondrial
    Protein Accession:
    Q96DC8
    Secondary Accessions:
    • Q53HR9
    • Q5W0J7
    • Q8WYY8
    • Q9BVL8
    • Q9H7G4

    Protein attributes for ECHDC3 Gene

    Size:
    303 amino acids
    Molecular mass:
    32634 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14928.1; Type=Erroneous termination; Positions=230; Note=Translated as Gln.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ECHDC3 Gene

    Alternative splice isoforms for ECHDC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ECHDC3 Gene

Proteomics data for ECHDC3 Gene at MOPED

Post-translational modifications for ECHDC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ECHDC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ECHDC3 Gene

Domains & Families for ECHDC3 Gene

Protein Domains for ECHDC3 Gene

Suggested Antigen Peptide Sequences for ECHDC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q96DC8

UniProtKB/Swiss-Prot:

ECHD3_HUMAN :
  • Belongs to the enoyl-CoA hydratase/isomerase family.
Family:
  • Belongs to the enoyl-CoA hydratase/isomerase family.
genes like me logo Genes that share domains with ECHDC3: view

No data available for Gene Families for ECHDC3 Gene

Function for ECHDC3 Gene

genes like me logo Genes that share phenotypes with ECHDC3: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ECHDC3 Gene

Localization for ECHDC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECHDC3 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ECHDC3 Gene COMPARTMENTS Subcellular localization image for ECHDC3 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 1
extracellular 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for ECHDC3 Gene

Pathways & Interactions for ECHDC3 Gene

genes like me logo Genes that share pathways with ECHDC3: view

Pathways by source for ECHDC3 Gene

1 BioSystems pathway for ECHDC3 Gene

Interacting Proteins for ECHDC3 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000368517%0d%0a9606.ENSP00000370083%0d%0a9606.ENSP00000370119%0d%0a9606.ENSP00000262030%0d%0a
Selected Interacting proteins: ENSP00000368517 for ECHDC3 Gene via STRING

Gene Ontology (GO) - Biological Process for ECHDC3 Gene

None

No data available for SIGNOR curated interactions for ECHDC3 Gene

Drugs & Compounds for ECHDC3 Gene

No Compound Related Data Available

Transcripts for ECHDC3 Gene

Unigene Clusters for ECHDC3 Gene

Enoyl CoA hydratase domain containing 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ECHDC3 Gene

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

Relevant External Links for ECHDC3 Gene

GeneLoc Exon Structure for
ECHDC3
ECgene alternative splicing isoforms for
ECHDC3

Expression for ECHDC3 Gene

mRNA expression in normal human tissues for ECHDC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ECHDC3 Gene

This gene is overexpressed in Liver (x6.8) and Muscle - Skeletal (x5.4).

Protein differential expression in normal tissues from HIPED for ECHDC3 Gene

This gene is overexpressed in Salivary gland (22.8), Liver (13.5), and Kidney (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ECHDC3 Gene



SOURCE GeneReport for Unigene cluster for ECHDC3 Gene Hs.22242

genes like me logo Genes that share expression patterns with ECHDC3: view

Protein tissue co-expression partners for ECHDC3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ECHDC3 Gene

Orthologs for ECHDC3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ECHDC3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ECHDC3 35
  • 83.62 (n)
  • 82.58 (a)
ECHDC3 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ECHDC3 35
  • 83.28 (n)
  • 81.1 (a)
ECHDC3 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Echdc3 35
  • 80.56 (n)
  • 82.33 (a)
Echdc3 16
Echdc3 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ECHDC3 35
  • 99.11 (n)
  • 99.34 (a)
ECHDC3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Echdc3 35
  • 81.33 (n)
  • 81.67 (a)
oppossum
(Monodelphis domestica)
Mammalia ECHDC3 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ECHDC3 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECHDC3 35
  • 68.25 (n)
  • 67.77 (a)
ECHDC3 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ECHDC3 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia echdc3 35
  • 64.98 (n)
  • 71.21 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.16957 35
echdc3 35
  • 65.88 (n)
  • 64.82 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010403 35
  • 56.95 (n)
  • 56.28 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6984 35
  • 52.88 (n)
  • 44.58 (a)
CG6984 36
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ech-2 35
  • 51.26 (n)
  • 51.26 (a)
ech-2 36
  • 44 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DCI1 36
  • 18 (a)
ManyToMany
ECI1 36
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToOne
Species with no ortholog for ECHDC3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ECHDC3 Gene

ENSEMBL:
Gene Tree for ECHDC3 (if available)
TreeFam:
Gene Tree for ECHDC3 (if available)

Paralogs for ECHDC3 Gene

Paralogs for ECHDC3 Gene

(4) SIMAP similar genes for ECHDC3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ECHDC3: view

Variants for ECHDC3 Gene

Sequence variations from dbSNP and Humsavar for ECHDC3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs4750090 - 11,747,383(+) GGAAC(A/G)CGTTG reference, missense
rs7910140 - 11,755,468(+) TGGCC(A/G)CGGCT intron-variant, reference, missense
rs35986488 - 11,755,501(-) AATGT(C/T)GCAGC intron-variant, reference, missense
rs902892 -- 11,755,620(+) TAACT(A/C/G/T)CCCCC intron-variant
rs902895 -- 11,744,872(-) TTCAT(C/G)CCGAT intron-variant

Variation tolerance for ECHDC3 Gene

Residual Variation Intolerance Score: 81.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.00; 74.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ECHDC3 Gene

HapMap Linkage Disequilibrium report
ECHDC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ECHDC3 Gene

Disorders for ECHDC3 Gene

Relevant External Links for ECHDC3

Genetic Association Database (GAD)
ECHDC3
Human Genome Epidemiology (HuGE) Navigator
ECHDC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ECHDC3

No disorders were found for ECHDC3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ECHDC3 Gene

Publications for ECHDC3 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. (PMID: 24162737) Lambert J.C. … Amouyel P. (Nat. Genet. 2013) 3
  4. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PMID: 15342556) Suzuki Y. … Sugano S. (Genome Res. 2004) 3
  5. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PMID: 8125298) Maruyama K. … Sugano S. (Gene 1994) 3

Products for ECHDC3 Gene

Sources for ECHDC3 Gene

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