Human Gene OXCT1 (ENST00000196371.10_7) from GENCODE V47lift37
  Description: 3-oxoacid CoA-transferase 1, transcript variant 7 (from RefSeq NR_157114.2)
Gencode Transcript: ENST00000196371.10_7
Gencode Gene: ENSG00000083720.13_10
Transcript (Including UTRs)
   Position: hg19 chr5:41,730,167-41,870,527 Size: 140,361 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr5:41,731,831-41,870,460 Size: 138,630 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:41,730,167-41,870,527)mRNA (may differ from genome)Protein (520 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SCOT1_HUMAN
DESCRIPTION: RecName: Full=Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial; EC=2.8.3.5; AltName: Full=3-oxoacid CoA-transferase 1; AltName: Full=Somatic-type succinyl-CoA:3-oxoacid CoA-transferase; Short=SCOT-s; Flags: Precursor;
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.
PATHWAY: Ketone metabolism; succinyl-CoA degradation; acetoacetyl- CoA from succinyl-CoA: step 1/1.
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Mitochondrion matrix.
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.
DISEASE: Defects in OXCT1 are a cause of 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.
SIMILARITY: Belongs to the 3-oxoacid CoA-transferase family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OXCT1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: OXCT1
Diseases sorted by gene-association score: succinyl coa:3-oxoacid coa transferase deficiency* (1705), monocarboxylate transporter 1 deficiency (11), gastric antral vascular ectasia (8), exudative vitreoretinopathy 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 47.83 RPKM in Heart - Left Ventricle
Total median expression: 717.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.8067-0.176 Picture PostScript Text
3' UTR -427.101664-0.257 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012792 - 3-oxoacid_CoA-transf_A
IPR012791 - 3-oxoacid_CoA-transf_B
IPR014388 - 3-oxoacid_CoA-transferase
IPR004165 - CoA_trans_fam_I
IPR004164 - CoA_transf_AS
IPR004163 - CoA_transf_BS

Pfam Domains:
PF01144 - Coenzyme A transferase

SCOP Domains:
100950 - NagB/RpiA/CoA transferase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3DLX - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P55809
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008260 3-oxoacid CoA-transferase activity
GO:0008410 CoA-transferase activity
GO:0016740 transferase activity
GO:0042803 protein homodimerization activity

Biological Process:
GO:0007420 brain development
GO:0007507 heart development
GO:0007584 response to nutrient
GO:0008152 metabolic process
GO:0009725 response to hormone
GO:0014823 response to activity
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus
GO:0042182 ketone catabolic process
GO:0042493 response to drug
GO:0042594 response to starvation
GO:0045471 response to ethanol
GO:0046950 cellular ketone body metabolic process
GO:0046952 ketone body catabolic process
GO:0060612 adipose tissue development

Cellular Component:
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  BC009001 - Homo sapiens 3-oxoacid CoA transferase 1, mRNA (cDNA clone MGC:17088 IMAGE:4148643), complete cds.
GQ900952 - Homo sapiens clone HEL-T-64 epididymis secretory sperm binding protein mRNA, complete cds.
LP895526 - Sequence 390 from Patent EP3253886.
U62961 - Human succinyl CoA:3-oxoacid CoA transferase precursor (OXCT) mRNA, complete cds.
AK299668 - Homo sapiens cDNA FLJ51747 complete cds, highly similar to Succinyl-CoA:3-ketoacid-coenzyme A transferase1, mitochondrial precursor (EC 2.8.3.5).
AK312327 - Homo sapiens cDNA, FLJ92639, highly similar to Homo sapiens 3-oxoacid CoA transferase (OXCT), nuclear geneencoding mitochondrial protein, mRNA.
KJ891737 - Synthetic construct Homo sapiens clone ccsbBroadEn_01131 OXCT1 gene, encodes complete protein.
KR709358 - Synthetic construct Homo sapiens clone CCSBHm_00000982 OXCT1 (OXCT1) mRNA, encodes complete protein.
KR709359 - Synthetic construct Homo sapiens clone CCSBHm_00000984 OXCT1 (OXCT1) mRNA, encodes complete protein.
KR709360 - Synthetic construct Homo sapiens clone CCSBHm_00000989 OXCT1 (OXCT1) mRNA, encodes complete protein.
CR457049 - Homo sapiens full open reading frame cDNA clone RZPDo834A0221D for gene OXCT, 3-oxoacid CoA transferase; complete cds, incl. stopcodon.
DQ891805 - Synthetic construct clone IMAGE:100004435; FLH180114.01X; RZPDo839G01132D 3-oxoacid CoA transferase 1 (OXCT1) gene, encodes complete protein.
DQ894989 - Synthetic construct Homo sapiens clone IMAGE:100009449; FLH180110.01L; RZPDo839G01131D 3-oxoacid CoA transferase 1 (OXCT1) gene, encodes complete protein.
AB528366 - Synthetic construct DNA, clone: pF1KB4623, Homo sapiens OXCT1 gene for 3-oxoacid CoA transferase 1, without stop codon, in Flexi system.
AK125115 - Homo sapiens cDNA FLJ43125 fis, clone CTONG3004397.
JD328508 - Sequence 309532 from Patent EP1572962.
JD224131 - Sequence 205155 from Patent EP1572962.
JD450060 - Sequence 431084 from Patent EP1572962.
JD287608 - Sequence 268632 from Patent EP1572962.
JD208037 - Sequence 189061 from Patent EP1572962.
JD242026 - Sequence 223050 from Patent EP1572962.
AK298352 - Homo sapiens cDNA FLJ51924 complete cds, highly similar to Succinyl-CoA:3-ketoacid-coenzyme A transferase1, mitochondrial precursor (EC 2.8.3.5).
JD058081 - Sequence 39105 from Patent EP1572962.
AK315902 - Homo sapiens cDNA, FLJ78801 complete cds, highly similar to Succinyl-CoA:3-ketoacid-coenzyme A transferase1, mitochondrial precursor (EC 2.8.3.5).
JD150559 - Sequence 131583 from Patent EP1572962.
JD280485 - Sequence 261509 from Patent EP1572962.
JD244714 - Sequence 225738 from Patent EP1572962.
JD562522 - Sequence 543546 from Patent EP1572962.
JD299125 - Sequence 280149 from Patent EP1572962.
JD349222 - Sequence 330246 from Patent EP1572962.
JD510499 - Sequence 491523 from Patent EP1572962.
JD323964 - Sequence 304988 from Patent EP1572962.
JD556546 - Sequence 537570 from Patent EP1572962.
JD353944 - Sequence 334968 from Patent EP1572962.
JD200595 - Sequence 181619 from Patent EP1572962.
EF095213 - Homo sapiens succinyl-CoA:3-ketoacid CoA transferase (OXCT1) mRNA, partial cds.
CU679223 - Synthetic construct Homo sapiens gateway clone IMAGE:100020331 5' read OXCT1 mRNA.
JD019357 - Sequence 381 from Patent EP1572962.
JD031831 - Sequence 12855 from Patent EP1572962.
JD402583 - Sequence 383607 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY66-368 - ketolysis

Reactome (by CSHL, EBI, and GO)

Protein P55809 (Reactome details) participates in the following event(s):

R-HSA-74177 OXCT dimers transfer CoA from SUCC-CoA to ACA, forming ACA-CoA
R-HSA-77108 Utilization of Ketone Bodies
R-HSA-74182 Ketone body metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2R5V2, B7Z528, ENST00000196371.1, ENST00000196371.2, ENST00000196371.3, ENST00000196371.4, ENST00000196371.5, ENST00000196371.6, ENST00000196371.7, ENST00000196371.8, ENST00000196371.9, NR_157114, OXCT, P55809, SCOT, SCOT1_HUMAN, uc317cgy.1, uc317cgy.2
UCSC ID: ENST00000196371.10_7
RefSeq Accession: NM_000436.4
Protein: P55809 (aka SCOT1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.