Human Gene AGK (uc003vwi.2)
  Description: Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_018238): 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].
Transcript (Including UTRs)
   Position: hg19 chr7:141,251,078-141,354,209 Size: 103,132 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr7:141,255,267-141,352,724 Size: 97,458 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:141,251,078-141,354,209)mRNA (may differ from genome)Protein (422 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSCGAPEnsemblEntrez GeneExonPrimer
GeneCardsGeneNetworkH-INVHGNCHPRDLynx
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: AGK_HUMAN
DESCRIPTION: RecName: Full=Acylglycerol kinase, mitochondrial; Short=hAGK; EC=2.7.1.107; EC=2.7.1.94; AltName: Full=Multiple substrate lipid kinase; Short=HsMuLK; Short=MuLK; Short=Multi-substrate lipid kinase; Flags: Precursor;
FUNCTION: Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. Overexpression increases the formation and secretion of LPA, resulting in transactivation of EGFR and activation of the downstream MAPK signaling pathway, leading to increased cell growth.
CATALYTIC ACTIVITY: ATP + acylglycerol = ADP + acyl-sn-glycerol 3- phosphate.
CATALYTIC ACTIVITY: ATP + 1,2-diacylglycerol = ADP + 1,2-diacyl- sn-glycerol 3-phosphate.
COFACTOR: Magnesium.
PATHWAY: Lipid metabolism; glycerolipid metabolism.
SUBCELLULAR LOCATION: Mitochondrion membrane.
TISSUE SPECIFICITY: Highly expressed in muscle, heart, kidney and brain.
DISEASE: Defects in AGK are the cause of mitochondrial DNA depletion syndrome type 10 (MTDPS10) [MIM:212350]. 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.
DISEASE: Defects in AGK are the cause of cataract, congenital, autosomal recessive type 5 (CATC5) [MIM:614691]. CATC5 consists of 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.
MISCELLANEOUS: Overexpressed in prostate cancer, suggesting that it may play a role in initiation and progression of prostate cancer, processes in which LPA plays key roles.
SIMILARITY: Contains 1 DAGKc domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): AGK
CDC HuGE Published Literature: AGK
Positive Disease Associations: Dehydroepiandrosterone Sulfate
Related Studies:
  1. Dehydroepiandrosterone Sulfate
    Guangju Zhai et al. PLoS genetics 2011, Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms., PLoS genetics. [PubMed 21533175]

-  MalaCards Disease Associations
  MalaCards Gene Search: AGK
Diseases sorted by gene-association score: sengers syndrome* (1027), cataract 38, autosomal recessive* (1000), congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome* (750), cataract 44* (111), prostate cancer (1), mitochondrial metabolism disease (1), cardiomyopathy, familial hypertrophic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.79 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 351.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -71.50171-0.418 Picture PostScript Text
3' UTR -384.441485-0.259 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017438 - ATP-NAD_kinase_PpnK-typ_a/b
IPR001206 - Diacylglycerol_kinase_cat_dom

Pfam Domains:
PF00781 - Diacylglycerol kinase catalytic domain

ModBase Predicted Comparative 3D Structure on Q53H12
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
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:0016301 kinase activity
GO:0016740 transferase activity
GO:0047620 acylglycerol kinase activity

Biological Process:
GO:0008152 metabolic process
GO:0016310 phosphorylation
GO:0045039 protein import into mitochondrial inner membrane
GO:0046474 glycerophospholipid biosynthetic process
GO:0046486 glycerolipid metabolic process
GO:0046513 ceramide biosynthetic process
GO:0046834 lipid phosphorylation

Cellular Component:
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005743 mitochondrial inner membrane
GO:0005758 mitochondrial intermembrane space
GO:0005829 cytosol
GO:0016020 membrane
GO:0031305 integral component of mitochondrial inner membrane
GO:0042721 mitochondrial inner membrane protein insertion complex
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  LF207097 - JP 2014500723-A/14600: Polycomb-Associated Non-Coding RNAs.
AK304502 - Homo sapiens cDNA FLJ61206 complete cds, highly similar to Homo sapiens multiple substrate lipid kinase (MULK), mRNA.
AK299131 - Homo sapiens cDNA FLJ59963 complete cds, highly similar to Homo sapiens multiple substrate lipid kinase (MULK), mRNA.
AK001704 - Homo sapiens cDNA FLJ10842 fis, clone NT2RP4001343.
AK222769 - Homo sapiens mRNA for multi-substrate lipid kinase variant, clone: HEP00214.
AJ278150 - Homo sapiens mRNA for putative lipid kinase.
BC022777 - Homo sapiens acylglycerol kinase, mRNA (cDNA clone MGC:8807 IMAGE:3913448), complete cds.
CU692704 - Synthetic construct Homo sapiens gateway clone IMAGE:100018247 5' read AGK mRNA.
KJ899183 - Synthetic construct Homo sapiens clone ccsbBroadEn_08577 AGK gene, encodes complete protein.
KJ905501 - Synthetic construct Homo sapiens clone ccsbBroadEn_15107 AGK gene, encodes complete protein.
MA442674 - JP 2018138019-A/14600: Polycomb-Associated Non-Coding RNAs.
LF361907 - JP 2014500723-A/169410: Polycomb-Associated Non-Coding RNAs.
BC009775 - Homo sapiens acylglycerol kinase, mRNA (cDNA clone IMAGE:4092662), complete cds.
KJ906243 - Synthetic construct Homo sapiens clone ccsbBroadEn_15913 AGK gene, encodes complete protein.
LF361911 - JP 2014500723-A/169414: Polycomb-Associated Non-Coding RNAs.
MA597484 - JP 2018138019-A/169410: Polycomb-Associated Non-Coding RNAs.
MA597488 - JP 2018138019-A/169414: Polycomb-Associated Non-Coding RNAs.
BC040877 - Homo sapiens cDNA clone IMAGE:5724291, **** WARNING: chimeric clone ****.
LF361931 - JP 2014500723-A/169434: Polycomb-Associated Non-Coding RNAs.
JD120694 - Sequence 101718 from Patent EP1572962.
JD188461 - Sequence 169485 from Patent EP1572962.
JD038876 - Sequence 19900 from Patent EP1572962.
JD386530 - Sequence 367554 from Patent EP1572962.
JD475933 - Sequence 456957 from Patent EP1572962.
JD079340 - Sequence 60364 from Patent EP1572962.
JD047359 - Sequence 28383 from Patent EP1572962.
JD432016 - Sequence 413040 from Patent EP1572962.
JD317726 - Sequence 298750 from Patent EP1572962.
JD286499 - Sequence 267523 from Patent EP1572962.
MA597508 - JP 2018138019-A/169434: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00561 - Glycerolipid metabolism
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein Q53H12 (Reactome details) participates in the following event(s):

R-HSA-5696074 AGK:Mg2+ phosphorylates MAG, DAG
R-HSA-6802927 BRAF and RAF fusion mutant dimers are phosphorylated
R-HSA-6802934 p-BRAF and RAF fusion dimers bind MAP2Ks and MAPKs
R-HSA-6802932 Dissociation of BRAF/RAF fusion complex
R-HSA-6802933 p-BRAF and RAF fusion dimers phosphorylate MAP2Ks
R-HSA-6802935 MAPKs are phosphorylated downstream of BRAF and RAF fusion dimers
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-6802952 Signaling by BRAF and RAF fusions
R-HSA-1483257 Phospholipid metabolism
R-HSA-6802957 Oncogenic MAPK signaling
R-HSA-556833 Metabolism of lipids
R-HSA-5663202 Diseases of signal transduction
R-HSA-1430728 Metabolism
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: AGK_HUMAN, MULK, NM_018238, NP_060708, Q53H12, Q75KN1, Q96GC3, Q9NP48
UCSC ID: uc003vwi.2
RefSeq Accession: NM_018238
Protein: Q53H12 (aka AGK_HUMAN)
CCDS: CCDS5865.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_018238.3
exon count: 16CDS single in 3' UTR: no RNA size: 2925
ORF size: 1269CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2738.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.