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Aliases for OXCT1 Gene

Aliases for OXCT1 Gene

  • 3-Oxoacid CoA-Transferase 1 2 3 4 5
  • Somatic-Type Succinyl-CoA:3-Oxoacid CoA-Transferase 3 4
  • 3-Oxoacid CoA Transferase 1 2 3
  • EC 2.8.3.5 4 63
  • SCOT-S 3 4
  • OXCT 3 4
  • SCOT 3 4
  • 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 and Gastric Antral Vascular Ectasia. Among its related pathways are Butanoate metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include protein homodimerization activity and 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

Enhancers for OXCT1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around OXCT1 on UCSC Golden Path with GeneCards custom track

Promoters for OXCT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around OXCT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for OXCT1 Gene

Chromosome:
5
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

Genes around OXCT1 on UCSC Golden Path with GeneCards custom track

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

Domains & Families for OXCT1 Gene

Graphical View of Domain Structure for InterPro Entry

P55809

UniProtKB/Swiss-Prot:

SCOT1_HUMAN :
  • Belongs to the 3-oxoacid CoA-transferase family.
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

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

Human Phenotype Ontology for OXCT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OXCT1 Gene

MGI Knock Outs for OXCT1:

Animal Model Products

CRISPR Products

miRNA for OXCT1 Gene

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for OXCT1 Gene

Pathways & Interactions 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:0008152 metabolic process IEA --
GO:0014823 response to activity IEA --
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA --
GO:0042182 ketone catabolic process IEA --
genes like me logo Genes that share ontologies with OXCT1: view

No data available for SIGNOR curated interactions for OXCT1 Gene

Drugs & Compounds for OXCT1 Gene

(7) Drugs for OXCT1 Gene - From: DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
thimerosal Experimental Pharma Target 0
Acetoacetic acid Experimental Pharma 0
Acetoacetyl-CoA Experimental Pharma 0
Succinyl-CoA Experimental Pharma 0

(2) Additional Compounds for OXCT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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
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:

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 (x5.4).

Protein differential expression in normal tissues from HIPED for OXCT1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with OXCT1: view

Protein tissue co-expression partners for OXCT1 Gene

- Elite partner

Primer 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

(3) 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
rs75134564 - 41,862,656(+) AAACC(A/G)TGGCA nc-transcript-variant, reference, missense
VAR_000696 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD)
VAR_000697 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD)
VAR_010337 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD)
VAR_010338 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD)

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

Variation tolerance for OXCT1 Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.86; 34.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OXCT1 Gene

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

(5) MalaCards diseases for OXCT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
succinyl coa:3-oxoacid coa transferase deficiency
  • scot deficiency
gastric antral vascular ectasia
  • watermelon stomach
diffuse scleroderma
  • systemic scleroderma
capillary disease
  • disease of capillaries
exudative vitreoretinopathy 1
  • retinopathy of prematurity
- elite association - COSMIC cancer census association via MalaCards
Search OXCT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SCOT1_HUMAN
  • Succinyl-CoA:3-oxoacid 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.

Relevant External Links for OXCT1

Genetic Association Database (GAD)
OXCT1
Human Genome Epidemiology (HuGE) Navigator
OXCT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OXCT1
genes like me logo Genes that share disorders with OXCT1: view

No data available for 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 67
  2. Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes. (PMID: 19296078) MacDonald M.J. … Ostenson C.G. (Diabetologia 2009) 3 23
  3. Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase. (PMID: 18648183) Orii K.E. … Kondo N. (Tohoku J. Exp. Med. 2008) 3 23
  4. Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene. (PMID: 17706444) Fukao T. … Kondo N. (Mol. Genet. Metab. 2007) 3 23
  5. A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency. (PMID: 16765626) Fukao T. … Kondo N. (Mol. Genet. Metab. 2006) 3 23

Products for OXCT1 Gene

Sources for OXCT1 Gene

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