• Gene id: 23464

Gene Summary

• Gene Symbol: GCAT   Gene   UCSC   Ensembl
• Aliases: KBL
• Gene name: glycine C-acetyltransferase
• Alternate names: 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial, 2-amino-3-ketobutyrate-CoA ligase, AKB ligase, aminoacetone synthase, glycine acetyltransferase,
• Gene location: 22q13.1 (37807893: 37817176)     Exons: 10     NC_000022.11
• Gene summary(Entrez): The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine de
• OMIM: 614461

Protein Summary

• Protein general information: O75600  
  • Name: 2 amino 3 ketobutyrate coenzyme A ligase, mitochondrial (AKB ligase) (EC 2.3.1.29) (Aminoacetone synthase) (Glycine acetyltransferase)
  • Length: 419  
  • Mass: 45285
  • Tissue specificity: Strongly expressed in heart, brain, liver and pancreas. Also found in lung. {ECO
• Sequence:

  MWPGNAWRAALFWVPRGRRAQSALAQLRGILEGELEGIRGAGTWKSERVITSRQGPHIRVDGVSGGILNFCANNY
  LGLSSHPEVIQAGLQALEEFGAGLSSVRFICGTQSIHKNLEAKIARFHQREDAILYPSCYDANAGLFEALLTPED
  AVLSDELNHASIIDGIRLCKAHKYRYRHLDMADLEAKLQEAQKHRLRLVATDGAFSMDGDIAPLQEICCLASRYG
  ALVFMDECHATGFLGPTGRGTDELLGVMDQVTIINSTLGKALGGASGGYTTGPGPLVSLLRQRARPYLFSNSLPP
  AVVGCASKALDLLMGSNTIVQSMAAKTQRFRSKMEAAGFTISGASHPICPVMLGDARLASRMADDMLKRGIFVIG
  FSYPVVPKGKARIRVQISAVHSEEDIDRCVEAFVEVGRLHGALP

• Structural information:
  • Interpro: IPR011282  IPR001917  IPR004839  IPR015424  IPR015422   IPR015421  
  • Prosite: PS00599
  • STRING: ENSP00000371110
• Other Databases: GeneCards:  GCAT  Malacards:  GCAT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0008890	glycine C-acetyltransferase activity	IEA	molecular function
GO:0009058	biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006567	threonine catabolic process	IEA	biological process
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008890	glycine C-acetyltransferase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0019518	L-threonine catabolic process to glycine	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0019518	L-threonine catabolic process to glycine	IEA	biological process
GO:0008890	glycine C-acetyltransferase activity	NAS	molecular function
GO:0006520	cellular amino acid metabolic process	NAS	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0008890	glycine C-acetyltransferase activity	IEA	molecular function
GO:0009058	biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006567	threonine catabolic process	IEA	biological process
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008890	glycine C-acetyltransferase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0019518	L-threonine catabolic process to glycine	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0019518	L-threonine catabolic process to glycine	IEA	biological process
GO:0008890	glycine C-acetyltransferase activity	NAS	molecular function
GO:0006520	cellular amino acid metabolic process	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00260	Glycine, serine and threonine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881