Free for academic non-profit institutions. Other users need a Commercial license
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]
AGK (Acylglycerol Kinase) is a Protein Coding gene. Diseases associated with AGK include Sengers Syndrome and Cataract 38. Among its related pathways are Glycerolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include NAD+ kinase activity and lipid kinase activity. An important paralog of this gene is CERK.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0001727 | lipid kinase activity | IEA,IBA | 21873635 |
GO:0001729 | ceramide kinase activity | IEA,IBA | 21873635 |
GO:0003951 | NAD+ kinase activity | IEA | -- |
GO:0004143 | diacylglycerol kinase activity | IEA,IDA | 15939762 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005739 | mitochondrion | IEA,IDA | -- |
GO:0005741 | mitochondrial outer membrane | TAS | -- |
GO:0005743 | mitochondrial inner membrane | IEA,IDA | 28712724 |
GO:0005758 | mitochondrial intermembrane space | IEA,IDA | 28712724 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
|
|
2 | HIV Life Cycle |
.45
|
|
3 | Fatty Acyl-CoA Biosynthesis | ||
4 | Oncogenic MAPK signaling | ||
5 | Glycerolipid metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006665 | sphingolipid metabolic process | IBA | 21873635 |
GO:0016310 | phosphorylation | IEA,IBA | 21873635 |
GO:0045039 | protein import into mitochondrial inner membrane | IDA | 28712724 |
GO:0046474 | glycerophospholipid biosynthetic process | TAS | -- |
GO:0046486 | glycerolipid metabolic process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 | |||
2-Arachidonylglycerol |
|
53847-30-6 |
|
|||
Diglycerides Group A |
|
|
||||
Diglycerides Group B |
|
|
||||
Diglycerides Group C |
|
|
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AGK 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AGK 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AGK 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Agk 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Agk 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | AGK 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AGK 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AGK 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AGK 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | agk 30 |
|
||
Str.15995 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC52920 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | agk 30 31 |
|
OneToOne | |
wufi38e09 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005825 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Mulk 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | F52C9.3 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LCB4 31 |
|
ManyToMany | |
LCB5 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
617460 | Likely Pathogenic: Sengers syndrome | 141,652,869(+) | A/AG | FRAMESHIFT_VARIANT | |
661404 | Uncertain Significance: Sengers syndrome; Cataract, autosomal recessive congenital 5 | 141,649,321(+) | TTATAAC/T | INFRAME_DELETION | |
669460 | Benign: not provided | 141,637,174(+) | G/A | INTRON_VARIANT | |
669749 | Benign: not provided | 141,555,184(+) | A/G | INTRON_VARIANT | |
669756 | Benign: not provided | 141,622,012(+) | A/T | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2666672 | CNV | deletion | 23128226 |
esv3303845 | CNV | mobile element insertion | 20981092 |
esv34135 | CNV | loss | 18971310 |
esv3421680 | CNV | insertion | 20981092 |
esv3542534 | CNV | deletion | 23714750 |
esv3615256 | CNV | loss | 21293372 |
nsv1034207 | CNV | loss | 25217958 |
nsv510118 | OTHER | sequence alteration | 20534489 |
Disorder | Aliases | PubMed IDs |
---|---|---|
sengers syndrome |
|
|
cataract 38 |
|
|
trichohepatoenteric syndrome 1 |
|
|
cataract 44 |
|
|
mitochondrial dna depletion syndrome |
|
|