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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). 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 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

Regulatory Elements for ECHDC1 Gene

Enhancers for ECHDC1 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
GH06F127419 1 FANTOM5 Ensembl ENCODE 24.6 -76.7 -76663 1.5 ELF3 CBX3 TBL1XR1 WRNIP1 RAD21 ZBTB40 ZNF143 FOS CREM MIXL1 ECHDC1 KIAA0408 RNF146 LOC100287856 RPL17P23
GH06F127340 1.1 ENCODE 17.4 +1.3 1316 4.6 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ECHDC1 KIAA0408 C6orf58 GC06P127344 RNA5SP217
GH06F127390 0.6 ENCODE 16.6 -47.3 -47307 2.7 ECHDC1 KIAA0408 GC06P127375 LOC100287856
GH06F127331 1.1 Ensembl ENCODE 15.9 +10.9 10911 2.9 ZNF316 IKZF1 MAFG NFE2 MNT EMSY SPI1 ECHDC1 KIAA0408 GC06P127344 RNA5SP217
GH06F127383 0.8 ENCODE 15.8 -41.2 -41180 3.6 ECHDC1 C6orf58 GC06P127375 LOC100287856
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ECHDC1 on UCSC Golden Path with GeneCards custom track

Promoters for ECHDC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001226506 869 3201 HDGF ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for ECHDC1 Gene

Chromosome:
6
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

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 Lys 210
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ECHDC1 Gene

Domains & Families for ECHDC1 Gene

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

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: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

Phenotypes for ECHDC1 Gene

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

Animal Model Products

Flow Cytometry 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
Jensen Localization Image for ECHDC1 Gene COMPARTMENTS Subcellular localization image for ECHDC1 gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 2
endoplasmic reticulum 1
peroxisome 1
plasma membrane 1

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 --
GO:0070062 extracellular exosome IDA 23376485
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: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
Propionyl-CoA Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-ethylmalonyl-CoA
Butyryl-CoA
  • Butanoyl-CoA
  • Butanoyl-Coenzyme A
  • Butyryl-CoA
  • 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:

Flow Cytometry 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 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, PaxDb, 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
genes like me logo Genes that share expression patterns with ECHDC1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 99.67 (n)
cow
(Bos Taurus)
Mammalia ECHDC1 34 35
  • 89 (n)
rat
(Rattus norvegicus)
Mammalia Echdc1 34
  • 82.72 (n)
mouse
(Mus musculus)
Mammalia Echdc1 34 16 35
  • 82.5 (n)
dog
(Canis familiaris)
Mammalia ECHDC1 34 35
  • 80.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ECHDC1 35
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ECHDC1 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECHDC1 34 35
  • 67.34 (n)
lizard
(Anolis carolinensis)
Reptilia ECHDC1 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia echdc1 34
  • 64.31 (n)
Str.17367 34
zebrafish
(Danio rerio)
Actinopterygii echdc1 34 35
  • 59.66 (n)
worm
(Caenorhabditis elegans)
Secernentea C32E8.9 34 35
  • 43.77 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToMany
-- 35
  • 48 (a)
OneToMany
-- 35
  • 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)

Paralogs for ECHDC1 Gene

Paralogs for ECHDC1 Gene

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

Variants for ECHDC1 Gene

Sequence variations from dbSNP and Humsavar for ECHDC1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs10223649 -- 127,309,966(+) cagac(A/C)cttcc intron-variant
rs10457490 -- 127,308,901(+) caagg(A/C)agtga intron-variant
rs10457491 -- 127,334,103(+) GAATC(A/T)CACAT intron-variant
rs10457492 -- 127,335,895(+) ACATC(A/C)TTCCA intron-variant
rs10485028 -- 127,334,299(+) TGTAA(C/T)CTATG intron-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)

Relevant External Links 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

Relevant External Links for ECHDC1

Genetic Association Database (GAD)
ECHDC1
Human Genome Epidemiology (HuGE) Navigator
ECHDC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ECHDC1

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 C.L. … Van Schaftingen E. (J. Biol. Chem. 2011) 2 3 4 64
  2. 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 46 64
  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 46 64
  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 46 64
  5. 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 46 64

Products for ECHDC1 Gene

Sources for ECHDC1 Gene

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