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    OXCT1 3-oxoacid CoA-transferase 1 [ Homo sapiens (human) ]

    Gene ID: 5019, updated on 2-Nov-2024

    Summary

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    Official Symbol
    OXCT1provided by HGNC
    Official Full Name
    3-oxoacid CoA-transferase 1provided by HGNC
    Primary source
    HGNC:HGNC:8527
    See related
    Ensembl:ENSG00000083720 MIM:601424; AllianceGenome:HGNC:8527
    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
    OXCT; SCOT
    Summary
    This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in heart (RPKM 90.1), brain (RPKM 37.8) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OXCT1 in Genome Data Viewer
    Location:
    5p13.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (41730065..41870425, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (41986435..42126806, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (41730167..41870527, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol specific phospholipase C X domain containing 3 Neighboring gene uncharacterized LOC105374740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:41510229-41511057 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:41587798-41587931 Neighboring gene t-complex 1 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:41717601-41717785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22505 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:41775532-41776072 Neighboring gene Sharpr-MPRA regulatory region 14195 Neighboring gene Sharpr-MPRA regulatory region 14906 Neighboring gene NANOG hESC enhancer GRCh37_chr5:41822074-41822575 Neighboring gene uncharacterized LOC102723752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22507 Neighboring gene OXCT1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22508 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:41904130-41904676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22510 Neighboring gene zinc finger protein 626 pseudogene Neighboring gene ribosomal protein S2 pseudogene 22 Neighboring gene RAB7A interacting MON1-CCZ1 complex subunit 1

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. OXCT1 functions as a succinyltransferase, contributing to hepatocellular carcinoma via succinylating LACTB.
      Title: OXCT1 functions as a succinyltransferase, contributing to hepatocellular carcinoma via succinylating LACTB.
    2. Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models.
      Title: Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models.
    3. Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.
      Title: Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.
    4. Crystal structure of human SCOT, providing a molecular understanding of the reported mutations based on their potential structural effects.
      Title: A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
    5. Case Report: Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency causes episodic ketoacidotic crises and no apparent symptoms between them.
      Title: A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.
    6. Data show that the ketone body metabolizing enzymes BDH1, BDH2, OXCT1 and ACAT1 were expressed at the mRNA and protein level in all glioma cell lines.
      Title: Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy.
    7. Missense Mutations in succinyl-CoA:3-ketoacid CoA transferase is associated with Ketoacidosis.
      Title: Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    9. This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia
      Title: Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.
    10. The activities of pyruvate carboxylase (SCOT) were decreased by 65% in pancreatic islets of patients with type 2 diabetes.
      Title: Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Succinyl-CoA acetoacetate transferase deficiency
    MedGen: C0342792 OMIM: 245050 GeneReviews: Not available
    		not available

    Variation

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    See Variation Viewer (GRCh37.p13)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that OXCT1 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with OXCT1 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 succinyl-CoA:3-oxo-acid CoA-transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables succinyl-CoA:3-oxo-acid CoA-transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular ketone body metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular ketone body metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ketone body catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ketone catabolic process IEA
    Inferred from Electronic Annotation
    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
    		 PubMed 
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial
    Names
    3-oxoacid CoA transferase
    SCOT-s
    epididymis secretory sperm binding protein
    somatic-type succinyl-CoA:3-oxoacid CoA-transferase
    succinyl CoA:3-oxoacid CoA transferase
    succinyl-CoA:3-ketoacid-CoA transferase
    NP_000427.1
    NP_001351228.1
    NP_001351229.1
    NP_001351230.1
    NP_001351231.1
    NP_001351232.1

    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.

    Genomic

    1. NG_011823.2 RefSeqGene

      Range
      5000..145360
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000436.4 → NP_000427.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 3 precursor

      See identical proteins and their annotated locations for NP_000427.1

      Status: REVIEWED

      Source sequence(s)
      AC008817, AC034222, AC114946
      Consensus CDS
      CCDS3937.1
      UniProtKB/Swiss-Prot
      B2R5V2, B7Z528, P55809
      UniProtKB/TrEMBL
      A0A024R040, Q6IAV5
      Related
      ENSP00000196371.5, ENST00000196371.10
      Conserved Domains (2) summary
      COG1788
      Location:41 → 274
      AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
      cl00339
      Location:300 → 508
      SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...

    2. NM_001364299.2 → NP_001351228.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008817, AC034222, AC114946
      UniProtKB/TrEMBL
      Q6IAV5
      Conserved Domains (2) summary
      COG1788
      Location:41 → 281
      AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
      cl00339
      Location:307 → 515
      SugarP_isomerase; Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose ...

    3. NM_001364300.2 → NP_001351229.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC008817, AC034222, AC114946
      UniProtKB/TrEMBL
      Q6IAV5
      Conserved Domains (2) summary
      COG1788
      Location:48 → 281
      AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
      cl00339
      Location:307 → 515
      SugarP_isomerase; Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose ...

    4. NM_001364301.2 → NP_001351230.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008817, AC034222, AC114946
      UniProtKB/TrEMBL
      Q6IAV5
      Conserved Domains (2) summary
      COG1788
      Location:41 → 272
      AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
      cl00339
      Location:298 → 506
      SugarP_isomerase; Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose ...

    5. NM_001364302.2 → NP_001351231.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008817, AC034222, AC114946
      UniProtKB/TrEMBL
      Q6IAV5
      Conserved Domains (2) summary
      COG1788
      Location:41 → 274
      AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
      cl00339
      Location:300 → 478
      SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...

    6. NM_001364303.2 → NP_001351232.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC008817, AC034222, AC114946
      Consensus CDS
      CCDS93708.1
      UniProtKB/TrEMBL
      B7Z609, E9PDW2
      Related
      ENSP00000425348.1, ENST00000509987.1
      Conserved Domains (2) summary
      COG1788
      Location:3 → 88
      AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
      cl00339
      Location:114 → 322
      SugarP_isomerase; Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose ...

    RNA

    1. NR_157114.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC008817, AC034222, AC114946

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      41730065..41870425 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      41986435..42126806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55809.1 GenPept UniProtKB/Swiss-Prot:P55809

    Gene LinkOut

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

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