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    ECI1 enoyl-CoA delta isomerase 1 [ Homo sapiens (human) ]

    Gene ID: 1632, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ECI1provided by HGNC
    Official Full Name
    enoyl-CoA delta isomerase 1provided by HGNC
    Primary source
    HGNC:HGNC:2703
    See related
    Ensembl:ENSG00000167969 MIM:600305; AllianceGenome:HGNC:2703
    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
    DCI
    Summary
    This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in kidney (RPKM 39.8), colon (RPKM 22.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ECI1 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2239402..2251587, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2261850..2274034, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2289403..2301588, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2275282-2275782 Neighboring gene E4F transcription factor 1 Neighboring gene deoxyribonuclease 1 like 2 Neighboring gene ECI1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7039 Neighboring gene uncharacterized LOC107984839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2303743-2304516 Neighboring gene RNA binding protein with serine rich domain 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7040 Neighboring gene MIR3677 and MIR940 host gene Neighboring gene microRNA 3677

    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. Delta 3, delta 2-enoyl-CoA isomerase is the protein that copurifies with human glutathione S-transferases from S-hexylglutathione affinity matrices. Takahashi Y, et al. Biochem J, 1994 Dec 15. PMID 7818490, Free PMC Article
    2. Human mitochondrial 3,2-trans-enoyl-CoA isomerase (DCI): gene structure and localization to chromosome 16p13.3. Janssen U, et al. Genomics, 1994 Sep 1. PMID 7829074
    3. Systems virology identifies a mitochondrial fatty acid oxidation enzyme, dodecenoyl coenzyme A delta isomerase, required for hepatitis C virus replication and likely pathogenesis. Rasmussen AL, et al. J Virol, 2011 Nov. PMID 21917952, Free PMC Article
    4. The 1.3 A crystal structure of human mitochondrial Delta3-Delta2-enoyl-CoA isomerase shows a novel mode of binding for the fatty acyl group. Partanen ST, et al. J Mol Biol, 2004 Sep 24. PMID 15351645
    5. cDNA cloning and amino acid sequence of human mitochondrial delta 3 delta 2-enoyl-CoA isomerase: comparison of the human enzyme with its rat counterpart, mitochondrial short-chain isomerase. Kilponen JM, et al. Biochem J, 1994 May 15. PMID 8198519, Free PMC Article

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Fatty acid oxidation enzyme Delta3, Delta2-enoyl-CoA isomerase 1 (ECI1) drives aggressive tumor phenotype and predicts poor clinical outcome in prostate cancer patients.
      Title: Fatty acid oxidation enzyme Δ3, Δ2-enoyl-CoA isomerase 1 (ECI1) drives aggressive tumor phenotype and predicts poor clinical outcome in prostate cancer patients.
    2. Hepatitis C virus growth and RNA replication in hepatoma cell lines stably expressing coenzyme A delta isomerase (DCI)-targeting short hairpin RNA (shRNA) were abrogated, indicating that DCI is required for productive infection.
      Title: Systems virology identifies a mitochondrial fatty acid oxidation enzyme, dodecenoyl coenzyme A delta isomerase, required for hepatitis C virus replication and likely pathogenesis.
    3. determination of structure and mode of binding for fatty acyl group
      Title: The 1.3 A crystal structure of human mitochondrial Delta3-Delta2-enoyl-CoA isomerase shows a novel mode of binding for the fatty acyl group.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of enoyl-CoA delta isomerase 1 (ECI1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    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 GOA

    Function Evidence Code Pubs
    enables delta(3)-delta(2)-enoyl-CoA isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables delta(3)-delta(2)-enoyl-CoA isomerase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables delta(3)-delta(2)-enoyl-CoA isomerase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables intramolecular oxidoreductase activity, transposing C=C bonds 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in fatty acid beta-oxidation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HDA PubMed 
    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
    		  

    General protein information

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    Preferred Names
    enoyl-CoA delta isomerase 1, mitochondrial
    Names
    3,2 trans-enoyl-Coenzyme A isomerase
    3,2-trans-enoyl-CoA isomerase, mitochondrial
    D3,D2-enoyl-CoA isomerase
    acetylene-allene isomerase
    delta(3),Delta(2)-enoyl-CoA isomerase
    dodecenoyl-CoA delta isomerase (3,2 trans-enoyl-CoA isomerase)
    dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)
    epididymis secretory sperm binding protein
    NP_001171500.1
    NP_001910.2

    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.

    Genomic

    1. NG_047046.1 RefSeqGene

      Range
      5015..17200
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178029.2 → NP_001171500.1  enoyl-CoA delta isomerase 1, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001171500.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment in the CDS, as compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC009065, AK291127, BC002746, BQ773923
      Consensus CDS
      CCDS58410.1
      UniProtKB/Swiss-Prot
      P42126
      Related
      ENSP00000456319.1, ENST00000562238.5
      Conserved Domains (1) summary
      pfam00378
      Location:52 → 283
      ECH_1; Enoyl-CoA hydratase/isomerase

    2. NM_001919.4 → NP_001910.2  enoyl-CoA delta isomerase 1, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_001910.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC009065, AK291127, BQ773923
      Consensus CDS
      CCDS10464.1
      UniProtKB/Swiss-Prot
      A8K512, P42126, Q13290, Q7Z2L6, Q7Z2L7, Q9BUB8, Q9BW05, Q9UDG6
      UniProtKB/TrEMBL
      A0A384NKJ3, Q96DC0
      Related
      ENSP00000301729.4, ENST00000301729.9
      Conserved Domains (1) summary
      pfam00378
      Location:52 → 298
      ECH_1; Enoyl-CoA hydratase/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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      2239402..2251587 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      2261850..2274034 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P42126.1 GenPept UniProtKB/Swiss-Prot:P42126

    Gene LinkOut

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