ECHDC1 - ethylmalonyl-CoA decarboxylase 1 Gene

Also Known as MMCD; HEL-S-76; dJ351K20.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55862

About ECHDC1

Cytogenetic location: 6q22.33 Genomic coordinates (GRCh38): 6:127,288,712-127,343,609 (from NCBI)

This gene has 23 transcripts (splice variants), 211 orthologues and 13 paralogues. Ubiquitous expression in fat (RPKM 43.4), kidney (RPKM 24.8) and 25 other tissues.

Summary

Predicted to enable carboxy-lyase activity and enoyl-CoA hydratase activity. Predicted to be involved in fatty acid beta-oxidation. Predicted to be integral component of membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

ECHDC1 Products (5)

mRNA	Protein	Name
NM_001002030.2	NP_001002030.1	ethylmalonyl-CoA decarboxylase isoform 1
NM_001105544.2	NP_001099014.1	ethylmalonyl-CoA decarboxylase isoform 3
NM_001105545.2	NP_001099015.1	ethylmalonyl-CoA decarboxylase isoform 4
NM_001139510.2	NP_001132982.1	ethylmalonyl-CoA decarboxylase isoform 5
NM_018479.4	NP_060949.2	ethylmalonyl-CoA decarboxylase isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ECHDC1 Protein Structure

ECH_1

0
100
200
307 a.a.

Protein Preferred Names	Protein Names
ethylmalonyl-CoA decarboxylase	enoyl CoA hydratase domain containing 1

ECHDC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ECHDC1	Q9NTX5	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	32296183
Intra	ECHDC1	Q9NTX5	GORASP2	Homo sapiens	Q9H8Y8	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Scad Deficiency Acads Deficiency Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency Scadh Deficiency Short-Chain Acyl-Coa Dehydrogenase Deficiency Deficiency Of Butyryl-Coa Dehydrogenase Short Chain Acyl-Coa Dehydrogenase Deficiency ACADSD Scadd Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of Acyl-Coa Dehydrogenase Short-Chain Deficiency
L-2-Hydroxyglutaric Aciduria	L-2-Hydroxyglutaric Acidemia L2HGA L-2-Hga Aciduria, L-2-Hydroxyglutaric Combined D-2- And L-2-Hydroxyglutaric Aciduria

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04137	ECHDC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ECHDC1	VGNC	VGNC:81063
Canis familiaris	ECHDC1	VGNC	VGNC:40185
Mus musculus	ECHDC1	MGD	MGI:1277169
Bos taurus	ECHDC1	VGNC	VGNC:28306
Rattus norvegicus	ECHDC1	RGD	RGD:1359654
Felis catus	ECHDC1	VGNC	VGNC:97409
Others	ECHDC1	NCBI