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    Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial [ Mus musculus (house mouse) ]

    Gene ID: 93747, updated on 9-Dec-2024

    Summary

    Official Symbol
    Echs1provided by MGI
    Official Full Name
    enoyl Coenzyme A hydratase, short chain, 1, mitochondrialprovided by MGI
    Primary source
    MGI:MGI:2136460
    See related
    Ensembl:ENSMUSG00000025465 AllianceGenome:MGI:2136460
    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
    SCEH; mECH; mECH1
    Summary
    Predicted to enable 3-hydroxypropionyl-CoA dehydratase activity. Predicted to be involved in fatty acid beta-oxidation. Located in mitochondrion. Is expressed in several structures, including alimentary system; integumental system; nervous system; sensory organ; and ventricle cardiac muscle. Human ortholog(s) of this gene implicated in mitochondrial short-chain enoyl-CoA hydratase 1 deficiency. Orthologous to human ECHS1 (enoyl-CoA hydratase, short chain 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 119.4), kidney adult (RPKM 88.5) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Echs1 in Genome Data Viewer
    Location:
    7 F4; 7 85.12 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (139685623..139696334, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (140105710..140116421, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene proline-rich acidic protein 1 Neighboring gene fucose mutarotase Neighboring gene polyamine oxidase (exo-N4-amino) Neighboring gene STARR-positive B cell enhancer ABC_E1747 Neighboring gene mitochondrial ribosome-associated GTPase 1 Neighboring gene shadow of prion protein Neighboring gene olfactory receptor family 6 subfamily AE member 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2)  1 citation
    • Gene trapped (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3-hydroxypropionyl-CoA dehydratase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables 3-hydroxypropionyl-CoA dehydratase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables crotonyl-CoA hydratase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables delta(3)-delta(2)-enoyl-CoA isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables enoyl-CoA hydratase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables enoyl-CoA hydratase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fatty acid beta-oxidation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in fatty acid beta-oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    enoyl-CoA hydratase, mitochondrial
    Names
    enoyl-CoA hydratase 1
    short-chain enoyl-CoA hydratase
    NP_444349.1

    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_053119.3NP_444349.1  enoyl-CoA hydratase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_444349.1

      Status: VALIDATED

      Source sequence(s)
      AK040391, BC072658
      Consensus CDS
      CCDS21964.1
      UniProtKB/Swiss-Prot
      Q3TJK2, Q6GQS2, Q6PEN1, Q8BH95, Q99LX7
      Related
      ENSMUSP00000026538.7, ENSMUST00000026538.13
      Conserved Domains (2) summary
      PRK05617
      Location:36288
      PRK05617; 3-hydroxyisobutyryl-CoA hydrolase; Provisional
      cl23717
      Location:32288
      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_000073.7 Reference GRCm39 C57BL/6J

      Range
      139685623..139696334 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)