Entity Details

Primary name AGK_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ53H12
EntryNameAGK_HUMAN
FullNameAcylglycerol kinase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length422
SequenceStatuscomplete
DateCreated2006-10-17
DateModified2021-06-02

Ontological Relatives

GenesAGK

GO terms

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GOName
GO:0001727 lipid kinase activity
GO:0001729 ceramide kinase activity
GO:0003951 NAD+ kinase activity
GO:0004143 diacylglycerol kinase activity
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005743 mitochondrial inner membrane
GO:0005758 mitochondrial intermembrane space
GO:0005829 cytosol
GO:0006665 sphingolipid metabolic process
GO:0016020 membrane
GO:0016310 phosphorylation
GO:0017050 D-erythro-sphingosine kinase activity
GO:0031305 integral component of mitochondrial inner membrane
GO:0031966 mitochondrial membrane
GO:0042721 TIM22 mitochondrial import inner membrane insertion complex
GO:0043231 intracellular membrane-bounded organelle
GO:0045039 protein insertion into mitochondrial inner membrane
GO:0046474 glycerophospholipid biosynthetic process
GO:0046512 sphingosine biosynthetic process
GO:0046513 ceramide biosynthetic process
GO:0047620 acylglycerol kinase activity
GO:0102773 dihydroceramide kinase activity

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane
Mitochondrion intermembrane space

Domains

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DomainNameCategoryType
IPR001206 Diacylglycerol kinase, catalytic domainDomainDomain
IPR016064 NAD kinase/diacylglycerol kinase-like domain superfamilyFamilyHomologous superfamily
IPR017438 Inorganic polyphosphate/ATP-NAD kinase, N-terminalFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614691 OMIMCataract 38 (CTRCT38)An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The disease is caused by variants affecting the gene represented in this entry.
212350 OMIMMitochondrial DNA depletion syndrome 10 (MTDPS10)An autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy. The disease is caused by variants affecting the gene represented in this entry. The TIM22 complex and import of proteins into mitochondrion are affected in patients suffering of MTDPS10 (PubMed:28712726).