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Aliases for ECHDC1 Gene

Aliases for ECHDC1 Gene

  • Ethylmalonyl-CoA Decarboxylase 1 2 3 5
  • Enoyl-CoA Hydratase Domain-Containing Protein 1 3 4
  • Enoyl Coenzyme A Hydratase Domain Containing 1 2 3
  • Enoyl CoA Hydratase Domain Containing 1 2 3
  • Methylmalonyl-CoA Decarboxylase 3 4
  • MMCD 3 4
  • Epididymis Secretory Protein Li 76 3
  • Ethylmalonyl-CoA Decarboxylase 3
  • EC 4.1.1.94 4
  • EC 4.1.1.41 4
  • DJ351K20.2 3
  • HEL-S-76 3

External Ids for ECHDC1 Gene

Previous GeneCards Identifiers for ECHDC1 Gene

  • GC06M127590
  • GC06M127591
  • GC06M127651
  • GC06M127609
  • GC06M125186

Summaries for ECHDC1 Gene

GeneCards Summary for ECHDC1 Gene

ECHDC1 (Ethylmalonyl-CoA Decarboxylase 1) is a Protein Coding gene. Among its related pathways are Propanoate metabolism and Fatty Acid Biosynthesis (WikiPathways). Gene Ontology (GO) annotations related to this gene include carboxy-lyase activity and methylmalonyl-CoA decarboxylase activity.

UniProtKB/Swiss-Prot for ECHDC1 Gene

  • 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.

Additional gene information for ECHDC1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ECHDC1 Gene

Genomics for ECHDC1 Gene

GeneHancer (GH) Regulatory Elements for ECHDC1 Gene

Promoters and enhancers for ECHDC1 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
GH06J127340 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 667.3 +1.3 1341 4.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 ZNF548 SP3 ECHDC1 C6orf58 GC06P127344 KIAA0408 RNA5SP217 LOC105377994
GH06J127345 Enhancer 0.7 Ensembl dbSUPER 664.9 -1.8 -1832 0.2 JUND NR2C1 FOS CHAMP1 ECHDC1 KIAA0408 YWHAZP4
GH06J127419 Enhancer 1.3 FANTOM5 Ensembl ENCODE 24.6 -76.7 -76662 1.5 FOXA2 ZNF143 ATF7 FOS RUNX3 JUNB REST NFIL3 MAFF NBN ECHDC1 KIAA0408 RNF146 LOC100287856 RPL17P23
GH06J127265 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 14.9 +76.3 76303 3.6 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 RNF146 ECHDC1 CENPW LOC105377994
GH06J127456 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 13 -114.1 -114061 4.1 ATF1 FOXA2 MAX MZF1 SIN3A CEBPG YY1 ZNF316 EGR1 PRDM10 KIAA0408 ECHDC1 GC06P127437 ENSG00000255330 SOGA3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ECHDC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ECHDC1 gene promoter:

Genomic Locations for ECHDC1 Gene

Genomic Locations for ECHDC1 Gene
chr6:127,288,710-127,344,069
(GRCh38/hg38)
Size:
55,360 bases
Orientation:
Minus strand
chr6:127,609,855-127,664,754
(GRCh37/hg19)

Genomic View for ECHDC1 Gene

Genes around ECHDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECHDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECHDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECHDC1 Gene

Proteins for ECHDC1 Gene

  • Protein details for ECHDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NTX5-ECHD1_HUMAN
    Recommended name:
    Ethylmalonyl-CoA decarboxylase
    Protein Accession:
    Q9NTX5
    Secondary Accessions:
    • A6NFJ5
    • B7Z8S0
    • E9PEN7
    • E9PR31
    • F8W851
    • Q5TEF6
    • Q5TEF7
    • Q5TEG0
    • Q5TEG4
    • Q9NZ30
    • V9HW18

    Protein attributes for ECHDC1 Gene

    Size:
    307 amino acids
    Molecular mass:
    33698 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF67657.1; Type=Frameshift; Positions=121, 123, 125; Evidence={ECO:0000305}; Sequence=CAI20295.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20297.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ECHDC1 Gene

neXtProt entry for ECHDC1 Gene

Post-translational modifications for ECHDC1 Gene

  • Ubiquitination at Lys210
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ECHDC1 Gene

Domains & Families for ECHDC1 Gene

Gene Families for ECHDC1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ECHDC1 Gene

Suggested Antigen Peptide Sequences for ECHDC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NTX5

UniProtKB/Swiss-Prot:

ECHD1_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 ECHDC1: view

Function for ECHDC1 Gene

Molecular function for ECHDC1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-ethylmalonyl-CoA = butanoyl-CoA + CO(2).
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-methylmalonyl-CoA = propanoyl-CoA + CO(2).

Enzyme Numbers (IUBMB) for ECHDC1 Gene

Gene Ontology (GO) - Molecular Function for ECHDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004300 enoyl-CoA hydratase activity IBA --
GO:0004492 methylmalonyl-CoA decarboxylase activity IEA --
GO:0016829 lyase activity IEA --
GO:0016831 carboxy-lyase activity ISS --
genes like me logo Genes that share ontologies with ECHDC1: view
genes like me logo Genes that share phenotypes with ECHDC1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ECHDC1 Gene

Localization for ECHDC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECHDC1 Gene

Cytoplasm, cytosol.

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 ECHDC1 gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 4
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ECHDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA --
GO:0005829 cytosol IBA,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ECHDC1: view

Pathways & Interactions for ECHDC1 Gene

genes like me logo Genes that share pathways with ECHDC1: view

Pathways by source for ECHDC1 Gene

1 BioSystems pathway for ECHDC1 Gene
1 KEGG pathway for ECHDC1 Gene

Gene Ontology (GO) - Biological Process for ECHDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation IBA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ECHDC1: view

No data available for SIGNOR curated interactions for ECHDC1 Gene

Drugs & Compounds for ECHDC1 Gene

(1) Drugs for ECHDC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Propanoyl-CoA Experimental Pharma 0

(3) Additional Compounds for ECHDC1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-ethylmalonyl-CoA
  • (2S)-2-Ethylmalonyl-CoA
  • (2S)-Ethylmalonyl coenzyme A
  • (S)-2-Ethylmalonyl-CoA
  • (S)-Ethylmalonyl coenzyme A
  • EtMal-CoA
Butyryl-CoA
  • Butanoyl-CoA
  • Butanoyl-coenzyme A
  • Butyryl-coenzyme A
2140-48-9
S-Methylmalonyl-CoA
  • (S)-Methylmalonyl-CoA
  • (S)-Methylmalonyl-coenzyme A
73173-91-8
genes like me logo Genes that share compounds with ECHDC1: view

Transcripts for ECHDC1 Gene

Unigene Clusters for ECHDC1 Gene

Enoyl CoA hydratase domain containing 1:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ECHDC1 Gene

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: - - - - - - -
SP6: - - - - -
SP7: - - - - - - - -
SP8: -
SP9:
SP10:

Relevant External Links for ECHDC1 Gene

GeneLoc Exon Structure for
ECHDC1
ECgene alternative splicing isoforms for
ECHDC1

Expression for ECHDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ECHDC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ECHDC1 Gene

This gene is overexpressed in Nasopharynx (10.8), Salivary gland (6.6), and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ECHDC1 Gene



Protein tissue co-expression partners for ECHDC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ECHDC1 Gene:

ECHDC1

SOURCE GeneReport for Unigene cluster for ECHDC1 Gene:

Hs.486410

Evidence on tissue expression from TISSUES for ECHDC1 Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Skin(4.3)
  • Kidney(2.6)
  • Heart(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with ECHDC1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ECHDC1 Gene

Orthologs for ECHDC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ECHDC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ECHDC1 34 33
  • 99.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ECHDC1 34 33
  • 89 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Echdc1 33
  • 82.72 (n)
mouse
(Mus musculus)
Mammalia Echdc1 16 34 33
  • 82.5 (n)
dog
(Canis familiaris)
Mammalia ECHDC1 34 33
  • 80.67 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ECHDC1 34
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ECHDC1 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECHDC1 34 33
  • 67.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ECHDC1 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia echdc1 33
  • 64.31 (n)
Str.17367 33
zebrafish
(Danio rerio)
Actinopterygii echdc1 34 33
  • 59.66 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C32E8.9 34 33
  • 43.77 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToMany
-- 34
  • 48 (a)
OneToMany
-- 34
  • 42 (a)
OneToMany
Species where no ortholog for ECHDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 ECHDC1 Gene

ENSEMBL:
Gene Tree for ECHDC1 (if available)
TreeFam:
Gene Tree for ECHDC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ECHDC1: view image

Paralogs for ECHDC1 Gene

No data available for Paralogs for ECHDC1 Gene

Variants for ECHDC1 Gene

Sequence variations from dbSNP and Humsavar for ECHDC1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000010930 -- 127,292,570(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000040646 -- 127,303,412(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000055963 -- 127,330,024(-) C/A intron_variant
rs1000119399 -- 127,337,392(-) C/A intron_variant
rs1000152666 -- 127,345,146(-) CCCC/CCC upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ECHDC1 Gene

Variant ID Type Subtype PubMed ID
esv3571388 CNV loss 25503493
nsv1117664 CNV deletion 24896259
nsv1128274 CNV deletion 24896259
nsv604641 CNV loss 21841781

Variation tolerance for ECHDC1 Gene

Residual Variation Intolerance Score: 54.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ECHDC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ECHDC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECHDC1 Gene

Disorders for ECHDC1 Gene

Additional Disease Information for ECHDC1

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

No disorders were found for ECHDC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ECHDC1 Gene

Publications for ECHDC1 Gene

  1. Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading. (PMID: 22016388) Linster CL … Van Schaftingen E (The Journal of biological chemistry 2011) 2 3 4 58
  2. Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations. (PMID: 20407466) Enciso-Mora V … Houlston RS (European journal of human genetics : EJHG 2010) 3 44 58
  3. The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women. (PMID: 19517271) Menachem TD … Friedman E (Familial cancer 2009) 3 44 58
  4. Evaluation of 11 breast cancer susceptibility loci in African-American women. (PMID: 19789366) Zheng W … Blot WJ (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 44 58
  5. Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. (PMID: 18326623) Gold B … Offit K (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 44 58

Products for ECHDC1 Gene

Sources for ECHDC1 Gene

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