• Gene id: 55750

Gene Summary

• Gene Symbol: AGK   Gene   UCSC   Ensembl
• Aliases: CATC5, CTRCT38, MTDPS10, MULK
• Gene name: acylglycerol kinase
• Alternate names: acylglycerol kinase, mitochondrial, hAGK, hsMuLK, multi-substrate lipid kinase, multiple substrate lipid kinase,
• Gene location: 7q34 (141551409: 141662152)     Exons: 19     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have be
• OMIM: 605898

Protein Summary

• Protein general information: Q53H12  
  • Name: Acylglycerol kinase, mitochondrial (hAGK) (EC 2.7.1.107) (EC 2.7.1.138) (EC 2.7.1.94) (Multiple substrate lipid kinase) (HsMuLK) (MuLK) (Multi substrate lipid kinase)
  • Length: 422  
  • Mass: 47137
  • Tissue specificity: Highly expressed in muscle, heart, kidney and brain. {ECO
• Sequence:

  MTVFFKTLRNHWKKTTAGLCLLTWGGHWLYGKHCDNLLRRAACQEAQVFGNQLIPPNAQVKKATVFLNPAACKGK
  ARTLFEKNAAPILHLSGMDVTIVKTDYEGQAKKLLELMENTDVIIVAGGDGTLQEVVTGVLRRTDEATFSKIPIG
  FIPLGETSSLSHTLFAESGNKVQHITDATLAIVKGETVPLDVLQIKGEKEQPVFAMTGLRWGSFRDAGVKVSKYW
  YLGPLKIKAAHFFSTLKEWPQTHQASISYTGPTERPPNEPEETPVQRPSLYRRILRRLASYWAQPQDALSQEVSP
  EVWKDVQLSTIELSITTRNNQLDPTSKEDFLNICIEPDTISKGDFITIGSRKVRNPKLHVEGTECLQASQCTLLI
  PEGAGGSFSIDSEEYEAMPVEVKLLPRKLQFFCDPRKREQMLTSPTQ

• Structural information:
  • Protein Domains: (58..19-)
    (/note="DAGKc-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00783"-)
  • Interpro: IPR017438  IPR001206  IPR016064  
  • Prosite: PS50146
  • STRING: ENSP00000347581
• Other Databases: GeneCards:  AGK  Malacards:  AGK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001729	ceramide kinase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0016310	phosphorylation	IBA	biological process
GO:0001727	lipid kinase activity	IBA	molecular function
GO:0006665	sphingolipid metabolic process	IBA	biological process
GO:0046513	ceramide biosynthetic process	IBA	biological process
GO:0042721	TIM22 mitochondrial import inner membrane insertion complex	IDA	cellular component
GO:0042721	TIM22 mitochondrial import inner membrane insertion complex	IDA	cellular component
GO:0004143	diacylglycerol kinase activity	IDA	molecular function
GO:0045039	protein insertion into mitochondrial inner membrane	IDA	biological process
GO:0031305	integral component of mitochondrial inner membrane	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0045039	protein insertion into mitochondrial inner membrane	IDA	biological process
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0047620	acylglycerol kinase activity	IDA	molecular function
GO:0003951	NAD+ kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004143	diacylglycerol kinase activity	IEA	molecular function
GO:0001729	ceramide kinase activity	IEA	molecular function
GO:0047620	acylglycerol kinase activity	IEA	molecular function
GO:0102773	dihydroceramide kinase activity	IEA	molecular function
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0046474	glycerophospholipid biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0047620	acylglycerol kinase activity	IEA	molecular function
GO:0046834	lipid phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0001729	ceramide kinase activity	IEA	molecular function
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0004143	diacylglycerol kinase activity	IEA	molecular function
GO:0001727	lipid kinase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0046486	glycerolipid metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00561	Glycerolipid metabolism

Diseases

Associated diseases	References
Cataract	KEGG:H01202
Mitochondrial DNA depletion syndrome	KEGG:H00469
Cataract	KEGG:H01202
Mitochondrial DNA depletion syndrome	KEGG:H00469
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq