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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 ECHS1.

Additional gene information for ECHDC3 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for ECHDC3 Gene

Promoters and enhancers for ECHDC3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I011741 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 579.1 +0.4 387 2.1 PKNOX1 ATF1 RB1 SIN3A YY1 POLR2B SMAD5 RXRA NCOA1 REST ECHDC3 PIR31451
GH10I011606 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.8 -132.4 -132362 6.4 HDGF PKNOX1 CLOCK ARNT ZFP64 SIN3A FEZF1 YBX1 ZNF2 ZBTB7B USP6NL ENSG00000271360 ECHDC3 CELF2 GC10P011612 PIR55348 GC10P011559
GH10I011531 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 11.9 -209.2 -209214 2.9 SOX13 CTCF FOXA2 ETV1 MAX MZF1 CEBPG RAD21 YY1 TEAD3 USP6NL ECHDC3 GC10P011559 GC10M011466
GH10I011756 Enhancer 1.2 Ensembl ENCODE 16.1 +15.6 15631 2.9 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B FEZF1 DMAP1 ZNF2 ECHDC3 PIR31451
GH10I011681 Enhancer 1.5 Ensembl ENCODE dbSUPER 12.2 -56.4 -56448 9.5 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT NEUROD1 SIN3A FEZF1 ZNF2 ENSG00000228302 ECHDC3 USP6NL ENSG00000271046 LOC105376413
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ECHDC3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ECHDC3 Gene

Genomic Locations for ECHDC3 Gene
chr10:11,742,357-11,764,070
(GRCh38/hg38)
Size:
21,714 bases
Orientation:
Plus strand
chr10:11,784,356-11,806,069
(GRCh37/hg19)

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

Post-translational modifications for ECHDC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ECHDC3 Gene

No data available for DME Specific Peptides for ECHDC3 Gene

Domains & Families for ECHDC3 Gene

Gene Families for ECHDC3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Function for ECHDC3 Gene

Phenotypes From GWAS Catalog for ECHDC3 Gene

Gene Ontology (GO) - Molecular Function for ECHDC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
genes like me logo Genes that share ontologies with ECHDC3: view
genes like me logo Genes that share phenotypes with ECHDC3: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ECHDC3 gene
Compartment Confidence
mitochondrion 5
nucleus 3
extracellular 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ECHDC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with ECHDC3: view

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

Gene Ontology (GO) - Biological Process for ECHDC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ECHDC3: view

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ECHDC3 Gene



Protein tissue co-expression partners for ECHDC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ECHDC3 Gene:

ECHDC3

SOURCE GeneReport for Unigene cluster for ECHDC3 Gene:

Hs.22242

Evidence on tissue expression from TISSUES for ECHDC3 Gene

  • Liver(4.3)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with ECHDC3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ECHDC3 33 34
  • 99.11 (n)
cow
(Bos Taurus)
Mammalia ECHDC3 33 34
  • 83.62 (n)
dog
(Canis familiaris)
Mammalia ECHDC3 33 34
  • 83.28 (n)
rat
(Rattus norvegicus)
Mammalia Echdc3 33
  • 81.33 (n)
mouse
(Mus musculus)
Mammalia Echdc3 33 16 34
  • 80.56 (n)
oppossum
(Monodelphis domestica)
Mammalia ECHDC3 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ECHDC3 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECHDC3 33 34
  • 68.25 (n)
lizard
(Anolis carolinensis)
Reptilia ECHDC3 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia echdc3 33
  • 64.98 (n)
zebrafish
(Danio rerio)
Actinopterygii echdc3 33
  • 65.88 (n)
Dr.16957 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010403 33
  • 56.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6984 33 34
  • 52.88 (n)
worm
(Caenorhabditis elegans)
Secernentea ech-2 33 34
  • 51.26 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECI1 34
  • 21 (a)
ManyToMany
DCI1 34
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToOne
Species where no ortholog for ECHDC3 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000553969 -- 11,759,785(+) G/C intron_variant
rs1000606317 -- 11,759,542(+) G/T intron_variant
rs1000626996 -- 11,755,168(+) AAAAAAAA/AAAAAAA intron_variant
rs1000929243 -- 11,748,667(+) C/G intron_variant
rs1000980113 -- 11,748,841(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ECHDC3 Gene

Variant ID Type Subtype PubMed ID
nsv473571 CNV novel sequence insertion 20440878

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)

Additional Variant Information for ECHDC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ECHDC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECHDC3 Gene

Disorders for ECHDC3 Gene

Additional Disease Information for ECHDC3

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

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 SL … O'Brien SJ (PloS one 2010) 3 44 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. Transethnic genome-wide scan identifies novel Alzheimer's disease loci. (PMID: 28183528) Jun GR … Farrer LA (Alzheimer's & dementia : the journal of the Alzheimer's Association 2017) 3 58
  4. The relationship of the oleic acid level and ECHDC3 mRNA expression with the extent of coronary lesion. (PMID: 27586541) Duarte MK … Silbiger VN (Lipids in health and disease 2016) 3 58
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 58

Products for ECHDC3 Gene

Sources for ECHDC3 Gene

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