• Gene id: 5019

Gene Summary

• Gene Symbol: OXCT1   Gene   UCSC   Ensembl
• Aliases: OXCT, SCOT
• Gene name: 3-oxoacid CoA-transferase 1
• Alternate names: succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial, 3-oxoacid CoA transferase, SCOT-s, epididymis secretory sperm binding protein, somatic-type succinyl-CoA:3-oxoacid CoA-transferase, succinyl CoA:3-oxoacid CoA transferase, succinyl-CoA:3-ketoacid-,
• Gene location: 5p13.1 (41870534: 41730064)     Exons: 19     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 601424

Protein Summary

• Protein general information: P55809  
  • Name: Succinyl CoA:3 ketoacid coenzyme A transferase 1, mitochondrial (EC 2.8.3.5) (3 oxoacid CoA transferase 1) (Somatic type succinyl CoA:3 oxoacid CoA transferase) (SCOT s)
  • Length: 520  
  • Mass: 56158
  • 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.
• Sequence:

  MAALKLLSSGLRLCASARGSGATWYKGCVCSFSTSAHRHTKFYTDPVEAVKDIPDGATVLVGGFGLCGIPENLID
  ALLKTGVKGLTAVSNNAGVDNFGLGLLLRSKQIKRMVSSYVGENAEFERQYLSGELEVELTPQGTLAERIRAGGA
  GVPAFYTPTGYGTLVQEGGSPIKYNKDGSVAIASKPREVREFNGQHFILEEAITGDFALVKAWKADRAGNVIFRK
  SARNFNLPMCKAAETTVVEVEEIVDIGAFAPEDIHIPQIYVHRLIKGEKYEKRIERLSIRKEGDGEAKSAKPGDD
  VRERIIKRAALEFEDGMYANLGIGIPLLASNFISPNITVHLQSENGVLGLGPYPRQHEADADLINAGKETVTILP
  GASFFSSDESFAMIRGGHVDLTMLGAMQVSKYGDLANWMIPGKMVKGMGGAMDLVSSAKTKVVVTMEHSAKGNAH
  KIMEKCTLPLTGKQCVNRIITEKAVFDVDKKKGLTLIELWEGLTVDDVQKSTGCDFAVSPKLMPMQQIAN

• Structural information:
  • Interpro: IPR012792  IPR012791  IPR014388  IPR004165  IPR004164   IPR004163  IPR037171  
  • Prosite: PS01273 PS01274
  • PDB: 3DLX
  • PDBsum: 3DLX
  • STRING: ENSP00000196371
• Other Databases: GeneCards:  OXCT1  Malacards:  OXCT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008410	CoA-transferase activity	IEA	molecular function
GO:0046952	ketone body catabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0008260	3-oxoacid CoA-transferase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0046952	ketone body catabolic process	TAS	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:0042594	response to starvation	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0060612	adipose tissue development	IEA	biological process
GO:0042182	ketone catabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0008260	3-oxoacid CoA-transferase activity	IEA	molecular function
GO:0009725	response to hormone	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0046950	cellular ketone body metabolic process	IEA	biological process
GO:0008260	3-oxoacid CoA-transferase activity	IEA	molecular function
GO:0046950	cellular ketone body metabolic process	IEA	biological process
GO:0046952	ketone body catabolic process	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0046950	cellular ketone body metabolic process	IMP	biological process
GO:0008260	3-oxoacid CoA-transferase activity	IMP	molecular function
GO:0008260	3-oxoacid CoA-transferase activity	IMP	molecular function
GO:0005739	mitochondrion	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00280	Valine, leucine and isoleucine degradation
hsa00650	Butanoate metabolism
hsa00072	Synthesis and degradation of ketone bodies

Diseases

Associated diseases	References
Succinyl CoA:3-oxoacid CoA transferase	KEGG:H01121
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray