Seroatlas · Human Serome Atlas

AGK

Acylglycerol kinase, mitochondrial

Also known as: AGK_HUMAN, FLJ10842, MULK

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q53H12
Gene: AGK
Ensembl: ENSG00000006530
Chromosome: 7
Canonical length: 422 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Vesicles,Mitochondria

OverviewNCBI Gene

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 been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]

Canonical amino-acid sequenceUniProt

422 residues, UniProt reviewed canonical sequence.

>Q53H12|AGK
     1  MTVFFKTLRN HWKKTTAGLC LLTWGGHWLY GKHCDNLLRR AACQEAQVFG NQLIPPNAQV
    61  KKATVFLNPA ACKGKARTLF EKNAAPILHL SGMDVTIVKT DYEGQAKKLL ELMENTDVII
   121  VAGGDGTLQE VVTGVLRRTD EATFSKIPIG FIPLGETSSL SHTLFAESGN KVQHITDATL
   181  AIVKGETVPL DVLQIKGEKE QPVFAMTGLR WGSFRDAGVK VSKYWYLGPL KIKAAHFFST
   241  LKEWPQTHQA SISYTGPTER PPNEPEETPV QRPSLYRRIL RRLASYWAQP QDALSQEVSP
   301  EVWKDVQLST IELSITTRNN QLDPTSKEDF LNICIEPDTI SKGDFITIGS RKVRNPKLHV
   361  EGTECLQASQ CTLLIPEGAG GSFSIDSEEY EAMPVEVKLL PRKLQFFCDP RKREQMLTSP
   421  TQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AGK can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 29 nTPM

Expression across tissuesHPA

Tissue

heart muscle: 29 nTPM
cerebellum: 22 nTPM
cerebral cortex: 21 nTPM
parathyroid gland: 20 nTPM
choroid plexus: 17 nTPM
basal ganglia: 15 nTPM

Single-cell type

choroid plexus epithelial cells: 119 nCPM
pituitary stem cells: 85 nCPM
nk-cells: 62 nCPM
lactotrophs: 60 nCPM
microglia: 59 nCPM
corticotrophs: 59 nCPM

Immune cell

NK-cell: 98 nTPM
memory CD8 T-cell: 26 nTPM
naive CD8 T-cell: 24 nTPM
gdT-cell: 22 nTPM
T-reg: 19 nTPM
memory CD4 T-cell: 17 nTPM

Brain region

cerebral cortex: 15 nTPM
hypothalamus: 14 nTPM
basal ganglia: 14 nTPM
choroid plexus: 13 nTPM
hippocampal formation: 12 nTPM
pons: 10 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AGK.

Disease | AllUniProt

Conditions AGK is implicated in, by any mechanism.

Mitochondrial DNA depletion syndrome 10 (MTDPS10) MIM:212350
Cataract 38 (CTRCT38) MIM:614691

Disease | GeneticClinVar

52 pathogenic / likely-pathogenic of 424 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Sengers syndrome
Cataract 38
Inborn genetic diseases
AGK-related disorder
Trichohepatoenteric syndrome 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.88
gnomAD pLI: 0
gnomAD missense Z: 0.76
DepMap mean gene effect: -0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

ATP binding
ATP-dependent diacylglycerol kinase activity
ceramide kinase activity
acylglycerol kinase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Diacylglycerol kinase, catalytic domain
NAD kinase/diacylglycerol kinase-like domain superfamily
Inorganic polyphosphate/ATP-NAD kinase, N-terminal
Lipid Phosphate Formation and Regulation
Diacylglycerol kinase catalytic domain
Acylglycerol kinase, C-terminal
Acylglycerol kinase C-terminal

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AGK in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AGK as an antibody target. Whether an autoantibody or antibody against AGK could matter depends on whether native AGK is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AGK is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label AGK as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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