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Aliases for OXCT1 Gene

Aliases for OXCT1 Gene

  • 3-Oxoacid CoA Transferase 1 2 3
  • OXCT 3 4 6
  • SCOT 3 4 6
  • Somatic-Type Succinyl-CoA:3-Oxoacid CoA-Transferase 3 4
  • 3-Oxoacid CoA-Transferase 1 3 4
  • EC 2.8.3.5 4 63
  • SCOT-S 3 4
  • Succinyl-CoA:3-Ketoacid Coenzyme A Transferase 1, Mitochondrial 3
  • Succinyl-CoA:3-Ketoacid-Coenzyme A Transferase 1, Mitochondrial 3
  • Somatic-Type Succinyl CoA:3-Oxoacid CoA-Transferase 3
  • Somatic-Type Succinyl-CoA:3-Oxoacid-CoA-Transferase 3
  • Succinyl-CoA:3-Ketoacid-CoA Transferase 3
  • Succinyl CoA:3-Oxoacid CoA Transferase 3
  • 3-Oxoacid-CoA Transferase 1 3
  • 3-Oxoacid CoA Transferase 2
  • EC 2.8.3 63

External Ids for OXCT1 Gene

Previous HGNC Symbols for OXCT1 Gene

  • OXCT

Previous GeneCards Identifiers for OXCT1 Gene

  • GC05M041776
  • GC05M041765

Summaries for OXCT1 Gene

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 succinyl coa:3-oxoacid coa transferase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and 3-oxoacid CoA-transferase activity. An important paralog of this gene is OXCT2.

UniProtKB/Swiss-Prot for OXCT1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OXCT1 Gene

Genomics for OXCT1 Gene

Regulatory Elements for OXCT1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for OXCT1 Gene

Start:
41,730,065 bp from pter
End:
41,870,689 bp from pter
Size:
140,625 bases
Orientation:
Minus strand

Genomic View for OXCT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OXCT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OXCT1 Gene

Proteins for OXCT1 Gene

  • Protein details for OXCT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55809-SCOT1_HUMAN
    Recommended name:
    Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial
    Protein Accession:
    P55809
    Secondary Accessions:
    • B2R5V2
    • B7Z528

    Protein attributes for OXCT1 Gene

    Size:
    520 amino acids
    Molecular mass:
    56158 Da
    Quaternary structure:
    • Homodimer

    Three dimensional structures from OCA and Proteopedia for OXCT1 Gene

    Alternative splice isoforms for OXCT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OXCT1 Gene

Proteomics data for OXCT1 Gene at MOPED

Post-translational modifications for OXCT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OXCT1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for OXCT1 Gene

Graphical View of Domain Structure for InterPro Entry

P55809

UniProtKB/Swiss-Prot:

SCOT1_HUMAN :
  • P55809
Family:
  • Belongs to the 3-oxoacid CoA-transferase family.
genes like me logo Genes that share domains with OXCT1: view

No data available for Gene Families for OXCT1 Gene

Function for OXCT1 Gene

Molecular function for OXCT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Succinyl-CoA + a 3-oxo acid = succinate + a 3-oxoacyl-CoA.
UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for OXCT1 Gene

Gene Ontology (GO) - Molecular Function for OXCT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008260 3-oxoacid CoA-transferase activity TAS --
GO:0008410 CoA-transferase activity --
GO:0042803 protein homodimerization activity NAS 10964512
genes like me logo Genes that share ontologies with OXCT1: view
genes like me logo Genes that share phenotypes with OXCT1: view

Animal Model Products

CRISPR Products

miRNA for OXCT1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OXCT1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for OXCT1 Gene

Localization for OXCT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OXCT1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OXCT1 Gene COMPARTMENTS Subcellular localization image for OXCT1 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for OXCT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS 10964512
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with OXCT1: view

Pathways for OXCT1 Gene

genes like me logo Genes that share pathways with OXCT1: view

UniProtKB/Swiss-Prot P55809-SCOT1_HUMAN

  • Pathway: Ketone metabolism; succinyl-CoA degradation; acetoacetyl-CoA from succinyl-CoA: step 1/1

Gene Ontology (GO) - Biological Process for OXCT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007420 brain development IEA --
GO:0007507 heart development IEA --
GO:0007584 response to nutrient IEA --
GO:0008152 metabolic process --
GO:0009725 response to hormone IEA --
genes like me logo Genes that share ontologies with OXCT1: view

Compounds for OXCT1 Gene

(2) ApexBio Compounds for OXCT1 Gene

Compound Action Cas Number
LB42708 Selective FTase inhibitor [226929-39-1]
Lonafarnib "Ftase inhibitor,potent and selective" [193275-84-2]

(4) HMDB Compounds for OXCT1 Gene

Compound Synonyms Cas Number PubMed IDs
Acetoacetic acid
  • 3-Ketobutyrate
541-50-4
Acetoacetyl-CoA
  • 3-acetoacetyl-CoA
1420-36-6
Succinic acid
  • 1,2-Ethanedicarboxylate
110-15-6
Succinyl-CoA
  • Coenzyme A S-(hydrogen succinate)
604-98-8

(2) Drugbank Compounds for OXCT1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Succinic acid
  • 1,2-Ethanedicarboxylic acid
110-15-6 target
Thimerosal
  • [(o-carboxyphenyl)thio]ethylmercury
148-61-8 target

(2) Novoseek inferred chemical compound relationships for OXCT1 Gene

Compound -log(P) Hits PubMed IDs
acetoacetyl coa 83.5 3
acetoacetate 78.1 3
genes like me logo Genes that share compounds with OXCT1: view

Transcripts for OXCT1 Gene

Unigene Clusters for OXCT1 Gene

3-oxoacid CoA transferase 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OXCT1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for OXCT1 Gene

No ASD Table

Relevant External Links for OXCT1 Gene

GeneLoc Exon Structure for
OXCT1
ECgene alternative splicing isoforms for
OXCT1

Expression for OXCT1 Gene

mRNA expression in normal human tissues for OXCT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OXCT1 Gene

This gene is overexpressed in Heart - Left Ventricle (5.4).

Protein differential expression in normal tissues for OXCT1 Gene

This gene is overexpressed in Brain (12.0), Heart (8.7), and Nasal epithelium (6.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for OXCT1 Gene

SOURCE GeneReport for Unigene cluster for OXCT1 Gene Hs.278277

mRNA Expression by UniProt/SwissProt for OXCT1 Gene

P55809-SCOT1_HUMAN
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
genes like me logo Genes that share expressions with OXCT1: view

Expression partners for OXCT1 Gene

In Situ Assay Products

Orthologs for OXCT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for OXCT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia OXCT1 35
  • 89.81 (n)
  • 90.77 (a)
OXCT1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OXCT1 35
  • 90.44 (n)
  • 92.93 (a)
OXCT1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Oxct1 35
  • 86.51 (n)
  • 92.29 (a)
Oxct1 16
Oxct1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OXCT1 35
  • 99.55 (n)
  • 99.23 (a)
OXCT1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Oxct1 35
  • 86.58 (n)
  • 92.1 (a)
oppossum
(Monodelphis domestica)
Mammalia OXCT1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 50 (a)
ManyToMany
chicken
(Gallus gallus)
Aves OXCT1 35
  • 77.95 (n)
  • 85.99 (a)
OXCT1 36
  • 85 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia oxct1 35
  • 72.48 (n)
  • 79.76 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC69180 35
zebrafish
(Danio rerio)
Actinopterygii oxct1a 35
  • 72.01 (n)
  • 81.34 (a)
wufj48g08 35
oxct1a 36
  • 78 (a)
ManyToMany
oxct1b 36
  • 72 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12292 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006096 35
  • 61.48 (n)
  • 68.03 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1140 35
  • 59.21 (n)
  • 61.48 (a)
CG1140 36
  • 60 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C05C10.3 35
  • 61.92 (n)
  • 65.15 (a)
C05C10.3 36
  • 61 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3067 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06881 35
  • 55.16 (n)
  • 56.02 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1452 36
  • 67 (a)
OneToMany
Species with no ortholog for OXCT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OXCT1 Gene

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

Paralogs for OXCT1 Gene

Paralogs for OXCT1 Gene

Selected SIMAP similar genes for OXCT1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with OXCT1: view

Variants for OXCT1 Gene

Sequence variations from dbSNP and Humsavar for OXCT1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs10227 -- 41,730,285(+) TTTTT(A/C)CCCCC utr-variant-3-prime
rs316760 -- 41,739,892(+) ggaaa(C/G)ACAAG intron-variant
rs951883 -- 41,750,992(+) CCTTT(G/T)AAAAC intron-variant
rs964267 -- 41,810,185(+) AAGGA(A/G)CAATG intron-variant
rs966000 -- 41,766,732(+) TTGCC(A/G)TTACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OXCT1 Gene

Variant ID Type Subtype PubMed ID
nsv830271 CNV Loss 17160897
esv2674809 CNV Deletion 23128226
nsv830272 CNV Gain 17160897
nsv4811 CNV Loss 18451855
nsv830273 CNV Gain 17160897

Relevant External Links for OXCT1 Gene

HapMap Linkage Disequilibrium report
OXCT1
Human Gene Mutation Database (HGMD)
OXCT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OXCT1 Gene

Disorders for OXCT1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for OXCT1 Gene in MalaCards »

(1) Diseases for OXCT1 Gene including...

(1) OMIM Diseases for OXCT1 Gene (601424)

UniProtKB/Swiss-Prot

SCOT1_HUMAN
  • 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. {ECO:0000269 PubMed:10964512, ECO:0000269 PubMed:21296660, ECO:0000269 PubMed:9671268}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for OXCT1 Gene

Disease -log(P) Hits PubMed IDs
ketoacidosis 88 9
ketosis 62.2 4

Relevant External Links for OXCT1

Genetic Association Database (GAD)
OXCT1
Human Genome Epidemiology (HuGE) Navigator
OXCT1
genes like me logo Genes that share disorders with OXCT1: view

No data available for University of Copenhagen DISEASES and Genatlas for OXCT1 Gene

Publications for OXCT1 Gene

  1. Succinyl CoA:3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT- deficient patient. (PMID: 8751852) Kassovska-Bratinova S. … Mitchell G.A. (Am. J. Hum. Genet. 1996) 2 3 4 23
  2. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. (PMID: 9671268) Song X.-Q. … Mitchell G.A. (Hum. Mutat. 1998) 3 4 23
  3. 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. (PMID: 10964512) Fukao T. … Kondo N. (Genomics 2000) 3 4 23
  4. Cloning and characterization of a human orthologue of testis-specific succinyl CoA:3-oxo acid CoA transferase (Scot-t) cDNA. (PMID: 11756565) Tanaka H. … Nishimune Y. (Mol. Hum. Reprod. 2002) 3 23
  5. Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases. (PMID: 9380443) Fukao T. … Kondo N. (Pediatr. Res. 1997) 3 23

Products for OXCT1 Gene

  • Addgene plasmids for OXCT1

Sources for OXCT1 Gene

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