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Echdc1 enoyl Coenzyme A hydratase domain containing 1 [ Mus musculus (house mouse) ]

Gene ID: 52665, updated on 27-Nov-2024

Summary

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Official Symbol
Echdc1provided by MGI
Official Full Name
enoyl Coenzyme A hydratase domain containing 1provided by MGI
Primary source
MGI:MGI:1277169
See related
Ensembl:ENSMUSG00000019883 AllianceGenome:MGI:1277169
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
MMCD; D10Ertd667e; 1700028A24Rik
Summary
Enables carboxy-lyase activity. Predicted to be involved in fatty acid beta-oxidation. Located in cytosol. Is expressed in ganglia; thymus primordium; and vibrissa. Orthologous to human ECHDC1 (ethylmalonyl-CoA decarboxylase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in bladder adult (RPKM 7.1), subcutaneous fat pad adult (RPKM 6.3) and 25 other tissues See more
Orthologs
human all
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Genomic context

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See Echdc1 in Genome Data Viewer
Location:
10 A4; 10 16.59 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (29174140..29222657)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (29298144..29346661)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene UPF0762 protein C6orf58 homolog Neighboring gene STARR-seq mESC enhancer starr_26173 Neighboring gene STARR-seq mESC enhancer starr_26174 Neighboring gene MTCL family member 3 Neighboring gene RIKEN cDNA 9330159F19 gene Neighboring gene STARR-seq mESC enhancer starr_26176 Neighboring gene predicted gene, 46218 Neighboring gene STARR-seq mESC enhancer starr_26177 Neighboring gene STARR-positive B cell enhancer ABC_E6827 Neighboring gene ring finger protein 146 Neighboring gene predicted gene, 25596 Neighboring gene predicted gene, 30698

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism. Dewulf JP, et al. J Biol Chem, 2021 Oct. PMID 34419447, Free PMC Article
  2. Mining cholesterol genes from thousands of mouse livers identifies aldolase C as a regulator of cholesterol biosynthesis. Votava JA, et al. J Lipid Res, 2024 Mar. PMID 38417553, Free PMC Article
  3. Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading. Linster CL, et al. J Biol Chem, 2011 Dec 16. PMID 22016388, Free PMC Article
  4. Global gene expression analysis of murine limb development. Taher L, et al. PLoS One, 2011. PMID 22174793, Free PMC Article
  5. Telencephalic embryonic subtractive sequences: a unique collection of neurodevelopmental genes. Bulfone A, et al. J Neurosci, 2005 Aug 17. PMID 16107646, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism.
    Title: ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables carboxy-lyase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables methyl/ethyl malonyl-CoA decarboxylase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ethylmalonyl-CoA decarboxylase
Names
enoyl-CoA hydratase domain-containing protein 1
methylmalonyl-CoA decarboxylase
NP_001103665.1
NP_080131.4
XP_006512860.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001110195.1 → NP_001103665.1  ethylmalonyl-CoA decarboxylase isoform b

    See identical proteins and their annotated locations for NP_001103665.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 5' terminal exon and initiates translation at a downstream AUG start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK028775, AK150932, BY325699
    Consensus CDS
    CCDS48528.1
    UniProtKB/Swiss-Prot
    Q9D9V3
    Related
    ENSMUSP00000125553.2, ENSMUST00000160399.8
    Conserved Domains (1) summary
    cd06558
    Location:49 → 243
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

  2. NM_025855.4 → NP_080131.4  ethylmalonyl-CoA decarboxylase isoform a

    See identical proteins and their annotated locations for NP_080131.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AK006444, AK028775, CJ051963
    Consensus CDS
    CCDS23760.1
    UniProtKB/Swiss-Prot
    Q3U8C0, Q3UM30, Q8C185, Q9CTC5, Q9D9V3
    Related
    ENSMUSP00000020034.5, ENSMUST00000020034.6
    Conserved Domains (1) summary
    cd06558
    Location:72 → 266
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    29174140..29222657
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006512797.4 → XP_006512860.1  ethylmalonyl-CoA decarboxylase isoform X1

    Conserved Domains (1) summary
    cd06558
    Location:124 → 318
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9D9V3.2 GenPept UniProtKB/Swiss-Prot:Q9D9V3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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