Free for academic non-profit institutions. Other users need a Commercial license

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

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 Monocarboxylate Transporter 1 Deficiency. Among its related pathways are Metabolism and Ketone body metabolism. Gene Ontology (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

Additional gene information for OXCT1 Gene

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

Genomics for OXCT1 Gene

GeneHancer (GH) Regulatory Elements for OXCT1 Gene

Promoters and enhancers for OXCT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J041869 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 656 +0.4 380 2.6 HDGF ARNT SIN3A ZNF2 YY1 POLR2B ZNF213 ZNF207 ZNF143 SP3 OXCT1 LOC102723752 OXCT1-AS1 FBXO4 C5orf51
GH05J041871 Enhancer 0.9 Ensembl ENCODE 650.7 -1.2 -1184 0.4 ZBTB21 INSM2 MZF1 ZNF366 PRDM10 KLF8 ZBTB20 ZNF189 ZEB2 ZNF843 OXCT1-AS1 OXCT1 C5orf51 FBXO4 LOC102723752 RPS2P22
GH05J041924 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.2 -54.6 -54582 2.1 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D FBXO4 OXCT1 RPSAP38
GH05J041921 Enhancer 0.6 ENCODE 18.1 -50.8 -50801 0.9 JUN ZNF664 ATF4 SCRT2 IKZF1 NFE2 EMSY IKZF2 SPI1 GC05P041928 LOC100419715 PIR60775 OXCT1 OXCT1-AS1 FBXO4 C5orf51
GH05J041922 Enhancer 0.5 Ensembl 10.7 -51.4 -51412 0.2 ZNF664 JUN NFE2 EMSY LOC100419715 PIR60775 GC05P041928 OXCT1 OXCT1-AS1 FBXO4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OXCT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OXCT1 gene promoter:
  • Pax-5
  • Pax-2b
  • Pax-2a
  • Pax-2
  • Evi-1
  • POU2F1
  • POU2F1a
  • HNF-4alpha2
  • HNF-4alpha1
  • PPAR-gamma2

Genomic Locations for OXCT1 Gene

Genomic Locations for OXCT1 Gene
chr5:41,730,065-41,870,689
(GRCh38/hg38)
Size:
140,625 bases
Orientation:
Minus strand
chr5:41,730,167-41,870,791
(GRCh37/hg19)
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

Post-translational modifications for OXCT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OXCT1 Gene

No data available for DME Specific Peptides for OXCT1 Gene

Domains & Families for OXCT1 Gene

Gene Families for OXCT1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

Function for OXCT1 Gene

Molecular function for OXCT1 Gene

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

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 IEA --
GO:0016740 transferase activity IEA --
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

Human Phenotype Ontology for OXCT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OXCT1 Gene

MGI Knock Outs for OXCT1:
  • Oxct1 Oxct1<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for OXCT1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OXCT1

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OXCT1 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for OXCT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion NAS 10964512
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with OXCT1: view

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:0007507 heart development IEA --
GO:0007584 response to nutrient IEA --
GO:0008152 metabolic process IEA --
GO:0009725 response to hormone 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 and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Ethylmercurithiosalicylic acid 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
genes like me logo Genes that share compounds with OXCT1: view

Transcripts for OXCT1 Gene

mRNA/cDNA for OXCT1 Gene

Unigene Clusters for OXCT1 Gene

3-oxoacid CoA transferase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OXCT1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for OXCT1 Gene



Protein tissue co-expression partners for OXCT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OXCT1 Gene:

OXCT1

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.

Evidence on tissue expression from TISSUES for OXCT1 Gene

  • Nervous system(5)
  • Heart(4.6)
  • Kidney(4.6)
  • Intestine(4.2)
  • Muscle(2.7)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OXCT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • diaphragm
  • esophagus
  • lung
Abdomen:
  • stomach
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with OXCT1: view

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
chimpanzee
(Pan troglodytes)
Mammalia OXCT1 34 33
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OXCT1 34 33
  • 90.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OXCT1 34 33
  • 89.81 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Oxct1 33
  • 86.58 (n)
mouse
(Mus musculus)
Mammalia Oxct1 16 34 33
  • 86.51 (n)
oppossum
(Monodelphis domestica)
Mammalia OXCT1 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 50 (a)
ManyToMany
chicken
(Gallus gallus)
Aves OXCT1 34 33
  • 77.95 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia oxct1 33
  • 72.48 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69180 33
zebrafish
(Danio rerio)
Actinopterygii oxct1a 34 33
  • 72.01 (n)
ManyToMany
oxct1b 34
  • 72 (a)
ManyToMany
wufj48g08 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12292 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006096 33
  • 61.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1140 34 33
  • 59.21 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C05C10.3 34 33
  • 61.92 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1452 34
  • 67 (a)
OneToMany
Cin.3067 33
bread mold
(Neurospora crassa)
Ascomycetes NCU06881 33
  • 55.16 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3067 33
Species where no ortholog for OXCT1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for OXCT1: view image

Paralogs for OXCT1 Gene

Paralogs for OXCT1 Gene

(3) SIMAP similar genes for OXCT1 Gene using alignment to 4 proteins:

  • SCOT1_HUMAN
  • A1E286_HUMAN
  • B7Z528_HUMAN
  • E9PDW2_HUMAN
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 Variation AA Info Type
rs1005352383 uncertain-significance, Succinyl-CoA acetoacetate transferase deficiency 41,731,162(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs10227 likely-benign, Succinyl-CoA acetoacetate transferase deficiency 41,730,285(-) C/A/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1047505544 uncertain-significance, Succinyl-CoA acetoacetate transferase deficiency 41,803,178(-) T/C intron_variant
rs121909299 pathogenic, Succinyl-CoA acetoacetate transferase deficiency 41,805,674(-) G/C coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs121909300 pathogenic, Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050] 41,749,579(-) C/A coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv1096e214 CNV gain 21293372
esv2674809 CNV deletion 23128226
esv2762518 CNV loss 21179565
esv3570088 CNV loss 25503493
esv3604851 CNV gain 21293372
esv3604852 CNV loss 21293372
esv3604853 CNV loss 21293372
nsv4811 CNV deletion 18451855
nsv830271 CNV loss 17160897
nsv830272 CNV gain 17160897
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)

Additional Variant Information for OXCT1 Gene

Human Gene Mutation Database (HGMD)
OXCT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OXCT1

SNP Genotyping and Copy Number Assay Products

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

Disorders for OXCT1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for OXCT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- 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.

Additional Disease Information for OXCT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 GA (American journal of human genetics 1996) 2 3 4 22 58
  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. (PMID: 10964512) Fukao T … Kondo N (Genomics 2000) 3 4 22 58
  3. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. (PMID: 9671268) Song XQ … Mitchell GA (Human mutation 1998) 3 4 22 58
  4. Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. (PMID: 21296660) Fukao T … Kondo N (Biochimica et biophysica acta 2011) 3 4 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for OXCT1 Gene

Sources for OXCT1 Gene

Content
Loading form....