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
  • Ethylmalonyl-CoA Decarboxylase 3 4
  • MMCD 3 4
  • Epididymis Secretory Protein Li 76 3
  • EC 4.1.1.94 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. Diseases associated with ECHDC1 include Schizophrenia 13 and Extratemporal Epilepsy. Among its related pathways are Metabolism and Fatty Acid Biosynthesis (WikiPathways). Gene Ontology (GO) annotations related to this gene include carboxy-lyase activity and methylmalonyl-CoA decarboxylase activity. An important paralog of this gene is AUH.

UniProtKB/Swiss-Prot Summary for ECHDC1 Gene

  • Decarboxylates ethylmalonyl-CoA, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading (PubMed:22016388). Also has methylmalonyl-CoA decarboxylase activity at lower level (By similarity).

Additional gene information for ECHDC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 517.3 +0.9 942 5.3 FOXK2 ZBTB40 ZNF217 SIN3A POLR2G USF1 NCOR1 GTF2E2 PHF8 TEAD4 ECHDC1 C6orf58 lnc-RNF146-3 KIAA0408 piR-48348-066 LOC105377994
GH06J127265 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.4 +76.2 76168 4.6 ZNF217 EP300 CTCF ZSCAN5C SIN3A NRF1 USF1 POLR2G NCOR1 GTF2E2 RNF146 lnc-ECHDC1-5 ECHDC1 lnc-RNF146-1
GH06J127419 Enhancer 1.2 FANTOM5 Ensembl ENCODE 24.6 -76.5 -76532 2 ZBTB40 CTCF USF1 JUND FOS TRIM28 REST RAD21 SKI TRIM22 ECHDC1 KIAA0408 RNF146 ENSG00000220522 lnc-KIAA0408-3 piR-42613-083
GH06J127456 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13 -114.1 -114061 4.1 FOXA1 ATF2 OSR2 CREB1 FOXA2 ZNF316 MAFF CEBPG FOS MAFK KIAA0408 ECHDC1 lnc-KIAA0408-1 ENSG00000220694 lnc-C6orf58-4 ENSG00000255330 SOGA3
GH06J127365 Enhancer 1.1 Ensembl ENCODE dbSUPER 14.8 -22.6 -22645 2.5 JUND FOS POLR2A REST RFX1 EP300 ZNF316 MAFF ZNF184 TRIM24 ECHDC1 KIAA0408 RPL5P18 lnc-RNF146-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ECHDC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ECHDC1

Top Transcription factor binding sites by QIAGEN in the ECHDC1 gene promoter:
  • AREB6
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-1
  • GATA-2
  • GATA-3

Genomic Locations for ECHDC1 Gene

Genomic Locations for ECHDC1 Gene
chr6:127,288,712-127,344,069
(GRCh38/hg38)
Size:
55,358 bases
Orientation:
Minus strand
chr6:127,609,855-127,664,754
(GRCh37/hg19)
Size:
54,900 bases
Orientation:
Minus strand

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; 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

Protein Domains for ECHDC1 Gene

Suggested Antigen Peptide Sequences for ECHDC1 Gene

GenScript: Design optimal peptide antigens:
  • Enoyl-CoA hydratase domain-containing protein 1 (ECHD1_HUMAN)

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:
Decarboxylates ethylmalonyl-CoA, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading (PubMed:22016388). Also has methylmalonyl-CoA decarboxylase activity at lower level (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2S)-ethylmalonyl-CoA + H(+) = butanoyl-CoA + CO2; Xref=Rhea:RHEA:32131, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57371, ChEBI:CHEBI:60909; EC=4.1.1.94; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:32132; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(S)-methylmalonyl-CoA + H(+) = CO2 + propanoyl-CoA; Xref=Rhea:RHEA:61340, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57327, ChEBI:CHEBI:57392; EC=4.1.1.94; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61341; Evidence=. ;.

Enzyme Numbers (IUBMB) for ECHDC1 Gene

Phenotypes From GWAS Catalog 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 21873635
GO:0015451 decarboxylation-driven active transmembrane transporter 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

Clone Products

No data available for 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
cytosol 4
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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:0005829 cytosol ISS,IBA --
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
2 KEGG pathways 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 21873635
GO:0055085 transmembrane transport 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

mRNA/cDNA for ECHDC1 Gene

5 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for ECHDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ECHDC1 31 30
  • 89 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Echdc1 30
  • 82.72 (n)
mouse
(Mus musculus)
Mammalia Echdc1 17 31 30
  • 82.5 (n)
dog
(Canis familiaris)
Mammalia ECHDC1 31 30
  • 80.67 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ECHDC1 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ECHDC1 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECHDC1 31 30
  • 67.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ECHDC1 31
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia echdc1 30
  • 64.31 (n)
Str.17367 30
zebrafish
(Danio rerio)
Actinopterygii echdc1 31 30
  • 59.66 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C32E8.9 31 30
  • 43.77 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToMany
-- 31
  • 48 (a)
OneToMany
-- 31
  • 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

Paralogs for ECHDC1 Gene

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

Variants for ECHDC1 Gene

Additional dbSNP identifiers (rs#s) for ECHDC1 Gene

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 and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ECHDC1 Gene

Disorders for ECHDC1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ECHDC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
schizophrenia 13
  • sczd13
extratemporal epilepsy
corneal dystrophy, fleck
  • cfd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ECHDC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ECHDC1: view

No data available for 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 54
  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 41 54
  3. 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 41 54
  4. 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 41 54
  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 41 54

Products for ECHDC1 Gene

Sources for ECHDC1 Gene