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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.

    Other Literature Sources
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