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    ECHS1 enoyl-CoA hydratase, short chain 1 [ Homo sapiens (human) ]

    Gene ID: 1892, updated on 28-Oct-2024

    Summary

    Official Symbol
    ECHS1provided by HGNC
    Official Full Name
    enoyl-CoA hydratase, short chain 1provided by HGNC
    Primary source
    HGNC:HGNC:3151
    See related
    Ensembl:ENSG00000127884 MIM:602292; AllianceGenome:HGNC:3151
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCEH; mECH; mECH1; ECHS1D
    Summary
    The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in liver (RPKM 317.5), kidney (RPKM 253.4) and 23 other tissues See more
    Orthologs
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    Genomic context

    See ECHS1 in Genome Data Viewer
    Location:
    10q26.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (133362485..133373354, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (134317601..134328373, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (135175989..135186858, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ZNF511-PRAP1 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135160243-135160902 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135160903-135161562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:135161563-135162222 Neighboring gene proline rich acidic protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:135169540-135170274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2976 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:135172784-135172946 Neighboring gene fucose mutarotase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4248 Neighboring gene uncharacterized LOC124902563 Neighboring gene microRNA 3944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:135191859-135192358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2979 Neighboring gene polyamine oxidase Neighboring gene ReSE screen-validated silencer GRCh37_chr10:135202015-135202172 Neighboring gene Sharpr-MPRA regulatory region 11835 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2980

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-hydroxypropionyl-CoA dehydratase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 EXP
    Inferred from Experiment
    more info
    PubMed 
    enables enoyl-CoA hydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables enoyl-CoA hydratase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enoyl-CoA hydratase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in branched-chain amino acid catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fatty acid beta-oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fatty acid beta-oxidation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    enoyl-CoA hydratase, mitochondrial
    Names
    enoyl Coenzyme A hydratase, short chain, 1, mitochondrial
    enoyl-CoA hydratase, short chain, 1, mitochondrial
    epididymis secretory sperm binding protein
    short chain enoyl-CoA hydratase
    NP_004083.3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_042077.1 RefSeqGene

      Range
      5051..15920
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004092.4NP_004083.3  enoyl-CoA hydratase, mitochondrial

      See identical proteins and their annotated locations for NP_004083.3

      Status: REVIEWED

      Source sequence(s)
      BC008906, BE906357, BI091611, BQ130816
      Consensus CDS
      CCDS7681.1
      UniProtKB/Swiss-Prot
      O00739, P30084, Q5VWY1, Q96H54
      UniProtKB/TrEMBL
      A0A384MDW7
      Related
      ENSP00000357535.3, ENST00000368547.4
      Conserved Domains (1) summary
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      133362485..133373354 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      134317601..134328373 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)