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

Gene ID: 79746, updated on 28-Oct-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. Located in mitochondrion. [provided by Alliance of Genome Resources, Oct 2024]
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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (11742382..11764070)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (11753847..11775531)
RS_2024_09 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 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. ECHDC3 Variant Regulates the Right Hippocampal Microstructural Integrity and Verbal Memory in Type 2 Diabetes Mellitus. Zhao Q, et al. Neuroscience, 2024 Feb 6. PMID 38070593
  2. 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
  3. 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
  4. Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Jun GR, et al. Alzheimers Dement, 2017 Jul. PMID 28183528, Free PMC Article
  5. 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

See all (15) 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
located_in mitochondrion HTP PubMed 
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_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
    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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Chemical Information
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