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ECHDC1 (ethylmalonyl-CoA decarboxylase 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55862
Gene nameGene Name - the full gene name approved by the HGNC.
Ethylmalonyl-CoA decarboxylase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ECHDC1
SynonymsGene synonyms aliases
HEL-S-76, MMCD, dJ351K20.2
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q22.33
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000835 hsa-miR-15a-5p Microarray 18362358
MIRT000834 hsa-miR-16-5p Microarray 18362358
MIRT048213 hsa-miR-196a-5p CLASH 23622248
MIRT549856 hsa-miR-3646 PAR-CLIP 21572407
MIRT549855 hsa-miR-1252-3p PAR-CLIP 21572407
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004300 Function Enoyl-CoA hydratase activity IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol ISS
GO:0006635 Process Fatty acid beta-oxidation IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9NTX5
Protein name Ethylmalonyl-CoA decarboxylase (EC 4.1.1.94) (Enoyl-CoA hydratase domain-containing protein 1) (Methylmalonyl-CoA decarboxylase) (MMCD)
Protein function Decarboxylates ethylmalonyl-CoA, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading (PubMed:22016388). Acts preferentially on (S)-ethylmalonyl-CoA but also has some activity on the (R)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00378 ECH_1
59 292
Enoyl-CoA hydratase/isomerase
Domain
Sequence
Sequence length 307
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Propanoate metabolism
Metabolic pathways
 
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 22535842

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