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    ECHDC3 enoyl-CoA hydratase domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 79746, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ECHDC3provided by HGNC
    Official Full Name
    enoyl-CoA hydratase domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:23489
    See related
    Ensembl:ENSG00000134463 MIM:620756; AllianceGenome:HGNC:23489
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable enoyl-CoA hydratase activity. Involved in positive regulation of cellular response to insulin stimulus. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in fat (RPKM 46.4), kidney (RPKM 40.8) and 17 other tissues See more
    Orthologs
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    Genomic context

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    See ECHDC3 in Genome Data Viewer
    Location:
    10p14
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (11742382..11764070)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (11753847..11775531)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (11784381..11806069)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene USP6 N-terminal like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3018 Neighboring gene USP6NL antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3019 Neighboring gene uncharacterized LOC105376413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3020 Neighboring gene uncharacterized LOC105376412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3022 Neighboring gene VISTA enhancer hs1382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3023 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:11726365-11727564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:11733173-11733674 Neighboring gene CRISPRi-validated cis-regulatory element chr10.454 Neighboring gene Sharpr-MPRA regulatory region 10517 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:11764830-11764971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2132 Neighboring gene uncharacterized LOC105379850 Neighboring gene uncharacterized LOC105376415

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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

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    Related articles in PubMed

    1. Genetic Regulation of Enoyl-CoA Hydratase Domain-Containing 3 in Adipose Tissue Determines Insulin Sensitivity in African Americans and Europeans. Sharma NK, et al. Diabetes, 2019 Jul. PMID 31010960, Free PMC Article
    2. The relationship of the oleic acid level and ECHDC3 mRNA expression with the extent of coronary lesion. Duarte MK, et al. Lipids Health Dis, 2016 Sep 1. PMID 27586541, Free PMC Article
    3. Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Jun GR, et al. Alzheimers Dement, 2017 Jul. PMID 28183528, Free PMC Article
    4. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Lambert JC, et al. Nat Genet, 2013 Dec. PMID 24162737, Free PMC Article
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ECHDC3 Variant Regulates the Right Hippocampal Microstructural Integrity and Verbal Memory in Type 2 Diabetes Mellitus.
      Title: ECHDC3 Variant Regulates the Right Hippocampal Microstructural Integrity and Verbal Memory in Type 2 Diabetes Mellitus.
    2. Genetically (cis-) regulated expression of adipose tissue enoyl-CoA hydratase domain-containing 3 (ECHDC3) and genetic silencing studies in a human adipocyte model suggest that ECHDC3 may play an important role in determining insulin sensitivity.
      Title: Genetic Regulation of Enoyl-CoA Hydratase Domain-Containing 3 in Adipose Tissue Determines Insulin Sensitivity in African Americans and Europeans.
    3. Genome-wide significant (GWS) associations in single-nucleotide polymorphism (SNP)-based tests (P < 5 x 10(-8)) were identified for SNPs in PFDN1/HBEGF, USP6NL/ECHDC3, and BZRAP1-AS1.
      Title: Transethnic genome-wide scan identifies novel Alzheimer's disease loci.
    4. Increased levels of monounsaturated fatty acids, especially oleic acid, and ECHDC3 upregulation in patients with coronary artery lesion suggests that these are independent factors associated with the initial progression of cardiovascular disease.
      Title: The relationship of the oleic acid level and ECHDC3 mRNA expression with the extent of coronary lesion.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Clone Names

    • FLJ20909

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enoyl-CoA hydratase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables hydro-lyase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in fatty acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cellular response to insulin stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    enoyl-CoA hydratase domain-containing protein 3, mitochondrial
    Names
    enoyl Coenzyme A hydratase domain containing 3
    testis tissue sperm-binding protein Li 76m

    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_024693.5 → NP_078969.3  enoyl-CoA hydratase domain-containing protein 3, mitochondrial precursor

      Status: VALIDATED

      Source sequence(s)
      AL138898
      Consensus CDS
      CCDS7084.1
      UniProtKB/Swiss-Prot
      Q53HR9, Q5W0J7, Q8WYY8, Q96DC8, Q9BVL8, Q9H7G4
      UniProtKB/TrEMBL
      A0A140VKF9
      Related
      ENSP00000368517.4, ENST00000379215.9
      Conserved Domains (1) summary
      cl23717
      Location:54 → 301
      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_2023_10

    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
      11742382..11764070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425750.1 → XP_047281706.1  enoyl-CoA hydratase domain-containing protein 3, mitochondrial isoform X1

    2. XM_011519689.1 → XP_011517991.1  enoyl-CoA hydratase domain-containing protein 3, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl23717
      Location:54 → 234
      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. ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      11753847..11775531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366734.1 → XP_054222709.1  enoyl-CoA hydratase domain-containing protein 3, mitochondrial isoform X1

    2. XM_054366735.1 → XP_054222710.1  enoyl-CoA hydratase domain-containing protein 3, mitochondrial isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DC8.2 GenPept UniProtKB/Swiss-Prot:Q96DC8

    Gene LinkOut

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

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