Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ECHDC1 Gene

Aliases for ECHDC1 Gene

  • Ethylmalonyl-CoA Decarboxylase 1 2 3
  • 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

Summaries for ECHDC1 Gene

GeneCards Summary for ECHDC1 Gene

ECHDC1 (Ethylmalonyl-CoA Decarboxylase 1) is a Protein Coding gene. Among its related pathways are Fatty Acid Biosynthesis. 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.

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

Genomics for ECHDC1 Gene

Genomic Location for ECHDC1 Gene

Start:
127,288,710 bp from pter
End:
127,344,069 bp from pter
Size:
55,360 bases
Orientation:
Minus strand

Genomic View for ECHDC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ECHDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECHDC1 Gene

Regulatory Elements 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

Proteomics data for ECHDC1 Gene at MOPED

Post-translational modifications for ECHDC1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys210

No data available for DME Specific Peptides for ECHDC1 Gene

Domains for ECHDC1 Gene

Protein Domains for ECHDC1 Gene

UniProtKB/Swiss-Prot:

ECHD1_HUMAN
Family:
  • Belongs to the enoyl-CoA hydratase/isomerase family.:
    • Q9NTX5
genes like me logo Genes that share domains with ECHDC1: view

No data available for Gene Families for ECHDC1 Gene

Function for ECHDC1 Gene

Molecular function for ECHDC1 Gene

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

Enzyme Numbers (IUBMB) for ECHDC1 Gene

Gene Ontology (GO) - Molecular Function for ECHDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004492 methylmalonyl-CoA decarboxylase activity IEA --
GO:0016831 carboxy-lyase activity ISS --
genes like me logo Genes that share ontologies with ECHDC1: view

Phenotypes for ECHDC1 Gene

GenomeRNAi human phenotypes for ECHDC1:
genes like me logo Genes that share phenotypes with ECHDC1: view

miRNA for ECHDC1 Gene

miRTarBase miRNAs that target ECHDC1

No data available for Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for ECHDC1 Gene COMPARTMENTS Subcellular localization image for ECHDC1 gene
Compartment Confidence
cytosol 4
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ECHDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol ISS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ECHDC1: view

Pathways for ECHDC1 Gene

SuperPathways for ECHDC1 Gene

Superpath Contained pathways
1 Fatty Acid Biosynthesis
genes like me logo Genes that share pathways with ECHDC1: view

Pathways by source for ECHDC1 Gene

1 BioSystems pathway for ECHDC1 Gene

Gene Ontology (GO) - Biological Process for ECHDC1 Gene

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

Transcripts for ECHDC1 Gene

Unigene Clusters for ECHDC1 Gene

Enoyl CoA hydratase domain containing 1:
Representative Sequences:

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 for ECHDC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ECHDC1 Gene

SOURCE GeneReport for Unigene cluster for ECHDC1 Gene Hs.486410

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

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 36
  • 99.67 (n)
  • 99.35 (a)
ECHDC1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ECHDC1 36
  • 89 (n)
  • 85.29 (a)
ECHDC1 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ECHDC1 36
  • 80.67 (n)
  • 80.78 (a)
ECHDC1 37
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Echdc1 36
  • 82.5 (n)
  • 82.72 (a)
Echdc1 16
Echdc1 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ECHDC1 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ECHDC1 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Echdc1 36
  • 82.72 (n)
  • 81.61 (a)
chicken
(Gallus gallus)
Aves ECHDC1 36
  • 67.34 (n)
  • 62.08 (a)
ECHDC1 37
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ECHDC1 37
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia echdc1 36
  • 64.31 (n)
  • 59.01 (a)
Str.17367 36
zebrafish
(Danio rerio)
Actinopterygii echdc1 36
  • 59.66 (n)
  • 57.14 (a)
echdc1 37
  • 61 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C32E8.9 36
  • 43.77 (n)
  • 30.89 (a)
C32E8.9 37
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 48 (a)
OneToMany
-- 37
  • 42 (a)
OneToMany
-- 37
  • 48 (a)
OneToMany
Species with no ortholog for ECHDC1:
  • 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)

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 Sequence Context AA Info Type MAF
rs761842 -- 127,299,725(+) agtac(A/T)ttcta intron-variant
rs910720 -- 127,297,925(+) GTCCA(C/T)GCTCC intron-variant
rs998312 -- 127,342,259(+) TTGCA(A/G)TGCCT intron-variant
rs1055924 -- 127,290,359(-) ATTCA(C/T)ATCAG intron-variant
rs2057223 -- 127,316,229(+) AAATT(C/T)TTCTT intron-variant

Relevant External Links for ECHDC1 Gene

HapMap Linkage Disequilibrium report
ECHDC1

No data available for Structural Variations from Database of Genomic Variants (DGV) for ECHDC1 Gene

Disorders for ECHDC1 Gene

Relevant External Links for ECHDC1

Genetic Association Database (GAD)
ECHDC1
Human Genome Epidemiology (HuGE) Navigator
ECHDC1
genes like me logo Genes that share disorders with ECHDC1: view

No data available for UniProtKB/Swiss-Prot for ECHDC1 Gene

Publications for ECHDC1 Gene

  1. Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading. (PMID: 22016388) Linster C.L. … Van Schaftingen E. (J. Biol. Chem. 2011) 2 3 4
  2. Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. (PMID: 18326623) Gold B. … Offit K. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 49
  3. The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women. (PMID: 19517271) Menachem T.D. … Friedman E. (Fam. Cancer 2009) 3 49
  4. Evaluation of 11 breast cancer susceptibility loci in African-American women. (PMID: 19789366) Zheng W. … Blot W.J. (Cancer Epidemiol. Biomarkers Prev. 2009) 3 49
  5. Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations. (PMID: 20407466) Enciso-Mora V. … Houlston R.S. (Eur. J. Hum. Genet. 2010) 3 49

Products for ECHDC1 Gene

Sources for ECHDC1 Gene

Back to Top

Content