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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

Regulatory Elements for ECHDC3 Gene

Enhancers for ECHDC3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H011741 0.9 ENCODE 29.1 +0.4 388 2 PKNOX1 ATF1 RB1 SIN3A YY1 SMAD5 REST HDAC8 ZNF592 TFDP1 ECHDC3 PIR31451
GH10H011756 1.3 Ensembl ENCODE 16.1 +15.6 15632 2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 DMAP1 ZNF2 YY1 ECHDC3 PIR31451
GH10H011606 1.7 FANTOM5 ENCODE dbSUPER 11.8 -132.4 -132362 6 HDGF PKNOX1 ARNT ZFP64 SIN3A FEZF1 YBX1 ZNF2 ZBTB7B YY1 ECHDC3 USP6NL CELF2 ENSG00000271360 GC10P011559
GH10H011681 1.6 Ensembl ENCODE dbSUPER 12.2 -56.4 -56448 9 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZNF766 FOS JUNB ZNF592 ENSG00000228302 ECHDC3 USP6NL UPF2 ENSG00000271046 LOC105376413
GH10H011624 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -117.2 -117244 1 EBF1 DPF2 BATF RELA ZNF217 BCL11A IKZF1 EED RUNX3 IKZF2 ECHDC3 USP6NL CELF2 PIR55348 GC10P011612 LOC105376412
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ECHDC3 on UCSC Golden Path with GeneCards custom track

Promoters for ECHDC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000024468 343 1401 PKNOX1 RB1 YY1 SMAD5 REST HDAC8 ZNF592 TFDP1 SP1 NFIC

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ECHDC3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ECHDC3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Primer Products

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 34 33
  • 99.11 (n)
OneToOne
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 Sequence Context AA Info Type
rs1000553969 -- 11,759,785(+) CTGCA(C/G)TTGGC intron-variant
rs1000606317 -- 11,759,542(+) TAAAT(G/T)TCTGT intron-variant
rs1000626996 -- 11,755,168(+) ATACC(-/A)AAAAA intron-variant
rs1000929243 -- 11,748,667(+) GATCA(C/G)TTGAG intron-variant
rs1000980113 -- 11,748,841(+) AGATC(A/G)TGCCA 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)

Relevant External Links 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

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 SL … O'Brien SJ (PloS one 2010) 3 45 60
  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 60
  3. 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 60
  4. 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 60
  5. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. (PMID: 24162737) Lambert JC … Amouyel P (Nature genetics 2013) 3 60

Products for ECHDC3 Gene

Sources for ECHDC3 Gene

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