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OXCT1 Gene

protein-coding   GIFtS: 64
GCID: GC05M041732

3-Oxoacid CoA Transferase 1

(Previous name: 3-oxoacid CoA transferase)
(Previous symbol: OXCT)
  See OXCT1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
3-Oxoacid CoA Transferase 11 2     3-Oxoacid-CoA Transferase 12
OXCT1 2 3 5     Somatic-Type Succinyl CoA:3-Oxoacid CoA-Transferase2
SCOT2 3 5     Somatic-Type Succinyl-CoA:3-Oxoacid-CoA-Transferase2
Somatic-Type Succinyl-CoA:3-Oxoacid CoA-Transferase2 3     Succinyl CoA:3-Oxoacid CoA Transferase2
3-Oxoacid CoA-Transferase 12 3     Succinyl-CoA:3-Ketoacid Coenzyme A Transferase 1, Mitochondrial2
SCOT-s2 3     Succinyl-CoA:3-Ketoacid-CoA Transferase2
EC 2.8.3.53 8     Succinyl-CoA:3-Ketoacid-Coenzyme A Transferase 1, Mitochondrial2
3-Oxoacid CoA Transferase1     EC 2.8.38

External Ids:    HGNC: 85271   Entrez Gene: 50192   Ensembl: ENSG000000837207   OMIM: 6014245   UniProtKB: P558093   

Export aliases for OXCT1 gene to outside databases

Previous GC identifers: GC05M041776 GC05M041765


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for OXCT1 Gene:
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)

GeneCards Summary for OXCT1 Gene:
OXCT1 (3-oxoacid CoA transferase 1) is a protein-coding gene. Diseases associated with OXCT1 include scot deficiency. GO annotations related to this gene include 3-oxoacid CoA-transferase activity and protein homodimerization activity. An important paralog of this gene is OXCT2.

UniProtKB/Swiss-Prot: SCOT1_HUMAN, P55809
Function: Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate.
Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the
carboxylate groups of the enzyme and substrate

Gene Wiki entry for OXCT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OXCT1 gene promoter:
         Pax-5   Pax-2   HNF-4alpha2   Pax-2a   HNF-4alpha1   Evi-1   Pax-2b   POU2F1   POU2F1a   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOXCT1 promoter sequence
   Search Chromatin IP Primers for OXCT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OXCT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p13.1   Ensembl cytogenetic band:  5p13.1   HGNC cytogenetic band: 5p13

OXCT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OXCT1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M041732:  view genomic region     (about GC identifiers)

Start:
41,730,167 bp from pter      End:
41,870,791 bp from pter
Size:
140,625 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SCOT1_HUMAN, P55809 (See protein sequence)
Recommended Name: Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial precursor  
Size: 520 amino acids; 56158 Da
Subunit: Homodimer
1 PDB 3D structure from and Proteopedia for OXCT1:
3DLX (3D)    
Secondary accessions: B2R5V2

Explore the universe of human proteins at neXtProt for OXCT1: NX_P55809

Explore proteomics data for OXCT1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for OXCT1 (P55809) (see all 19)
     GDLANWM  ERIRAGG  KIMEKCT  RKSARNF 


    See OXCT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000427.1  
    ENSEMBL proteins: 
     ENSP00000196371   ENSP00000421143   ENSP00000423144   ENSP00000425348  
    Reactome Protein details: P55809

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    antibodies-online kits for OXCT1 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR012791 3-oxoacid_CoA-transf_B
     IPR004163 CoA_transf_BS
     IPR014388 3-oxoacid_CoA-transferase
     IPR012792 3-oxoacid_CoA-transf_A
     IPR004164 CoA_transf_AS

    Graphical View of Domain Structure for InterPro Entry P55809

    ProtoNet protein and cluster: P55809

    2 Blocks protein domains:
    IPB004164 Coenzyme A transferase 2
    IPB004165 Coenzyme A transferase


    UniProtKB/Swiss-Prot: SCOT1_HUMAN, P55809
    Similarity: Belongs to the 3-oxoacid CoA-transferase family


    Find genes that share domains with OXCT1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SCOT1_HUMAN, P55809
    Function: Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate.
    Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the
    carboxylate groups of the enzyme and substrate
    Catalytic activity: Succinyl-CoA + a 3-oxo acid = succinate + a 3-oxoacyl-CoA

         Enzyme Numbers (IUBMB): EC 2.8.3.51 2 EC 2.8.32

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00082603-oxoacid CoA-transferase activity TAS--
    GO:0008410CoA-transferase activity ----
    GO:0042803protein homodimerization activity NAS10964512
         
    Find genes that share ontologies with OXCT1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for OXCT1:
     Increased cell death HMECs cel  Upregulation of Wnt/beta-caten 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Oxct1):
     cellular  homeostasis/metabolism  mortality/aging  muscle  nervous system 

    Find genes that share phenotypes with OXCT1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for OXCT1

    miRNA
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    miRTarBase miRNAs that target OXCT1:
    hsa-mir-26b-5p (MIRT029445), hsa-mir-100-5p (MIRT048474), hsa-mir-1 (MIRT023755), hsa-mir-155-5p (MIRT020769)

    Block miRNA regulation of human, mouse, rat OXCT1 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate OXCT1:
    hsa-miR-877* hsa-miR-3161 hsa-miR-3673 hsa-miR-562 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidOXCT1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SCOT1_HUMAN, P55809: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion NAS10964512
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with OXCT1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for OXCT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Synthesis and Degradation of Ketone Bodies
    Synthesis and Degradation of Ketone Bodies0.43
    Utilization of Ketone Bodies0.00
    ketolysis0.43
    Ketone body metabolism0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Butanoate metabolism
    Butanoate metabolism
    Synthesis and degradation of ketone bodies0.00
    4Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    5Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31


    Find genes that share SuperPaths with OXCT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for OXCT1
        Synthesis and Degradation of Ketone Bodies
    ketolysis


    1 Reactome Pathway for OXCT1
        Utilization of Ketone Bodies


    3 Kegg Pathways  (Kegg details for OXCT1):
        Synthesis and degradation of ketone bodies
    Valine, leucine and isoleucine degradation
    Butanoate metabolism

    UniProtKB/Swiss-Prot: SCOT1_HUMAN, P55809
    Pathway: Ketone metabolism; succinyl-CoA degradation; acetoacetyl-CoA from succinyl-CoA: step 1/1

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OXCT1
    Interactions:

        Search GeneGlobe Interaction Network for OXCT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for OXCT1 (P558093 ENSP000001963714) via UniProtKB, MINT, STRING, and/or I2D (see all 20)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDA1Q9BW613I2D: score=1 
    DLG4P783523I2D: score=1 
    PRKAG2Q9UGJ03I2D: score=1 
    PRKAR1BP313213I2D: score=1 
    PSEN1P497683I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007420brain development IEA--
    GO:0007507heart development IEA--
    GO:0007584response to nutrient IEA--
    GO:0008152metabolic process ----
    GO:0009725response to hormone IEA--

    Find genes that share ontologies with OXCT1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for OXCT1 (SCOT1)

    4 HMDB Compounds for OXCT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetoacetic acid3-Ketobutyrate (see all 9)541-50-4--
    Acetoacetyl-CoA3-acetoacetyl-CoA (see all 9)1420-36-6--
    Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--
    Succinyl-CoACoenzyme A S-(hydrogen succinate) (see all 24)604-98-8--

    2 DrugBank Compounds for OXCT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--15388917
    Thimerosal[(o-carboxyphenyl)thio]ethylmercury (see all 4)148-61-8target--10592235

    2 Novoseek inferred chemical compound relationships for OXCT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetoacetyl coa 83.5 4 18648183 (1), 9671268 (1), 9380443 (1)
    acetoacetate 78.1 4 18648183 (1), 12463743 (1), 8751852 (1)



    Find genes that share compounds with OXCT1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for OXCT1 gene: 
    NM_000436.3  

    Unigene Cluster for OXCT1:

    3-oxoacid CoA transferase 1
    Hs.278277  [show with all ESTs]
    Unigene Representative Sequence: NM_000436
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000196371(uc011cpo.2 uc011cpp.2 uc003jmn.3) ENST00000512084
    ENST00000510634 ENST00000509987 ENST00000508557 ENST00000503374 ENST00000513081
    ENST00000514723
    miRNA
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    hsa-miR-877* hsa-miR-3161 hsa-miR-3673 hsa-miR-562 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidOXCT1 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat OXCT1

    Additional mRNA sequence: 

    AK298352.1 AK299668.1 AK312327.1 AK315902.1 BC009001.1 CR457049.1 EF095213.1 U62961.1 

    7 DOTS entries:

    DT.75183881  DT.91685477  DT.40190163  DT.100663934  DT.120862674  DT.120862770  DT.91883178 

    Selected AceView cDNA sequences (see all 210):

    BM794241 AI521832 BM796624 AL557497 BG188490 BX501779 CB117262 BM793340 
    CD676833 AL119667 BU186449 CA407159 AK125115 AL701208 AI688636 NM_000436 
    CR611841 BP376198 CR590281 BX475206 BC009001 R19496 BM754318 AA169877 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    OXCT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAAGAAATG
    OXCT1 Expression
    About this image


    OXCT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             Dental pulp stem cells
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Bone (Muscoskeletal System)
             TGFbeta3+BMP7-induced chondrocytes
     
     Cartilage (Muscoskeletal System)
             TGFbeta3+BMP7-induced chondrocytes
    OXCT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OXCT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.278277

    UniProtKB/Swiss-Prot: SCOT1_HUMAN, P55809
    Tissue specificity: Abundant in heart, followed in order by kidney, brain, and muscle, whereas in liver it is
    undetectable; also detectable in leukocytes and fibroblasts

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OXCT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for OXCT1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Oxct11 , 5 3-oxoacid CoA transferase 11, 5 86.51(n)1
    92.29(a)1
      15 (1.86 cM)5
    670411  NM_024188.61  NP_077150.11 
     40263835 
    chicken
    (Gallus gallus)
    Aves OXCT11 3-oxoacid CoA transferase 1 77.95(n)
    85.99(a)
      427190  NM_001006578.2  NP_001006578.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Succinyl-CoA:3-ketoacid-coenzyme A transferase
    82(a)
    1 → many
    2(6594740-6669297)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC691802 hypothetical protein MGC69180 76.29(n)    BC059355.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj48g082 Transcribed sequence with moderate similarity to protein more 76.46(n)    CK361904.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG11401 CG1140 59.21(n)
    61.48(a)
      38261  NM_139426.3  NP_647683.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C05C10.31 C05C10.3 61.92(n)
    65.15(a)
      174548  NM_063743.5  NP_496144.1 


    ENSEMBL Gene Tree for OXCT1 (if available)
    TreeFam Gene Tree for OXCT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OXCT1 gene
    OXCT22  
    3 SIMAP similar genes for OXCT1 using alignment to 4 protein entries:     SCOT1_HUMAN (see all proteins):
    OXCT    FLJ00030    OXCT2

    Find genes that share paralogs with OXCT1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for OXCT1 (see all 2299)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2017525481,2,,4
    Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)4 --41787376(+) GGTCCA/GCCTTC 2 A V mis10--------
    VAR_0006964
    Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)4--see VAR_0006962 V E mis40--------
    VAR_0655664
    Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)4--see VAR_0655662 L P mis40--------
    VAR_0103394
    Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)4--see VAR_0103392 G E mis40--------
    VAR_0006974
    Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)4--see VAR_0006972 C F mis40--------
    VAR_0655684
    Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)4--see VAR_0655682 S P mis40--------
    VAR_0655694
    Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)4--see VAR_0655692 R C mis40--------
    VAR_0103374
    Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)4--see VAR_0103372 G E mis40--------
    VAR_0655654
    Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)4--see VAR_0655652 S N mis40--------
    VAR_0655674
    Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD)4--see VAR_0655672 V F mis40--------

    HapMap Linkage Disequilibrium report for OXCT1 (41730167 - 41870791 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for OXCT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674809CNV Deletion23128226
    nsv830271CNV Loss17160897
    nsv4811CNV Loss18451855
    nsv830272CNV Gain17160897
    nsv830273CNV Gain17160897

    Human Gene Mutation Database (HGMD): OXCT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OXCT1
    DNA2.0 Custom Variant and Variant Library Synthesis for OXCT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601424   
    OMIM disorders: 245050  
    UniProtKB/Swiss-Prot: SCOT1_HUMAN, P55809
  • Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]: A disorder of ketone body
    metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 1 disease for OXCT1:    
    About MalaCards
    scot deficiency


    Find genes that share disorders with OXCT1           About GenesLikeMe

    2 Novoseek inferred disease relationships for OXCT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ketoacidosis 88 10 12463743 (2), 17706444 (1), 9671268 (1), 10964512 (1) (see all 8)
    ketosis 62.2 4 11757586 (2), 15496607 (2)

    Genetic Association Database (GAD): OXCT1
    Human Genome Epidemiology (HuGE) Navigator: OXCT1 (1 document)

    Export disorders for OXCT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for OXCT1 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with OXCT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Succinyl CoA:3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT- deficient patient. (PubMed id 8751852)1, 2, 3, 9 Kassovska-Bratinova S.... Mitchell G.A. (Am. J. Hum. Genet. 1996)
    2. Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. (PubMed id 10964512)1, 2, 9 Fukao T.... Kondo N. (Genomics 2000)
    3. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. (PubMed id 9671268)1, 2, 9 Song X.-Q.... Mitchell G.A. (Hum. Mutat. 1998)
    4. Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. (PubMed id 21296660)1, 2 Fukao T.... Kondo N. (Biochim. Biophys. Acta 2011)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase. (PubMed id 18648183)1, 9 Orii K.E....Kondo N. (Tohoku J. Exp. Med. 2008)
    9. Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis. (PubMed id 15496607)1, 9 Fukao T....Kondo N. (Pediatr. Res. 2004)
    10. Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene. (PubMed id 17706444)1, 9 Fukao T....Kondo N. (Mol. Genet. Metab. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5019 HGNC: 8527 AceView: OXCT1 Ensembl:ENSG00000083720 euGenes: HUgn5019
    ECgene: OXCT1 Kegg: 5019 H-InvDB: OXCT1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for OXCT1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=OXCT1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OXCT1 gene:
    Search GeneIP for patents involving OXCT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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