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AGK Gene

protein-coding   GIFtS: 54
GCID: GC07P141250

Acylglycerol Kinase

(Previous name: multiple substrate lipid kinase)
(Previous symbol: MULK)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Acylglycerol Kinase1 2     MTDPS102 5
MULK1 2 3 5     Acylglycerol Kinase, Mitochondrial2
Multiple Substrate Lipid Kinase1 2 3     hsMuLK2
Multi-Substrate Lipid Kinase2 3     EC 2.7.1.1073
hAGK2 3     EC 2.7.1.943
CATC52 5     HsMuLK3
CTRCT382 5     MuLK3

External Ids:    HGNC: 218691   Entrez Gene: 557502   Ensembl: ENSG000000065307   OMIM: 6103455   UniProtKB: Q53H123   

Export aliases for AGK gene to outside databases

Previous GC identifers: GC07P140899 GC07P135547


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AGK 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)

GeneCards Summary for AGK Gene:
AGK (acylglycerol kinase) is a protein-coding gene. Diseases associated with AGK include cataract, autosomal recessive congenital 5, and cataract and cardiomyopathy. GO annotations related to this gene include NAD+ kinase activity and ceramide kinase activity. An important paralog of this gene is CERKL.

UniProtKB/Swiss-Prot: AGK_HUMAN, Q53H12
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

Gene Wiki entry for AGK Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the AGK gene promoter:
         oct-B3   GATA-3   Pbx1a   AML1a   Lmo2   HNF-3beta   GATA-2   GATA-1   Evi-1   AREB6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): AGK promoter sequence
   Search Chromatin IP Primers for AGK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AGK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q34   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q34

AGK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGK gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P141250:  view genomic region     (about GC identifiers)

Start:
141,250,989 bp from pter      End:
141,355,044 bp from pter
Size:
104,056 bases      Orientation:
plus strand

2 alternative locations:
Chr7+,NW_003315922 476-21,001      Chr7+,CRA_TCAG 140,588,796-140,691,918     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AGK_HUMAN, Q53H12 (See protein sequence)
Recommended Name: Acylglycerol kinase, mitochondrial precursor  
Size: 422 amino acids; 47137 Da
Cofactor: Magnesium
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
Secondary accessions: Q75KN1 Q96GC3 Q9NP48
Alternative splicing: 2 isoforms:  Q53H12-1   Q53H12-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AGK: NX_Q53H12

Explore proteomics data for AGK at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys223
  • Modification sites at PhosphoSitePlus

  • See AGK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060708.1  
    ENSEMBL proteins: 
     ENSP00000347581   ENSP00000420776   ENSP00000420540   ENSP00000418789   ENSP00000418101  
     ENSP00000444349  

    AGK Human Recombinant Protein Products:

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    Novus Biologicals AGK Proteins
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    Cloud-Clone Corp. CLIAs for AGK


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001206 Diacylglycerol_kinase_cat_dom
     IPR016064 ATP-NAD_kinase_PpnK-typ

    Graphical View of Domain Structure for InterPro Entry Q53H12

    ProtoNet protein and cluster: Q53H12

    UniProtKB/Swiss-Prot: AGK_HUMAN, Q53H12
    Similarity: Contains 1 DAGKc domain


    AGK for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AGK_HUMAN, Q53H12
    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-diacyl-sn-glycerol = ADP + 1,2-diacyl-sn-glycerol 3-phosphate

         Enzyme Numbers (IUBMB): EC 2.7.1.1071 EC 2.7.1.941

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001727lipid kinase activity ----
    GO:0001729ceramide kinase activity IEA--
    GO:0003951NAD+ kinase activity IEA--
    GO:0004143diacylglycerol kinase activity IEA--
    GO:0005524ATP binding IEA--
         
    AGK for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AGK
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AGK
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    miRNA
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    miRTarBase miRNAs that target AGK:
    hsa-mir-484 (MIRT042001), hsa-mir-7-5p (MIRT025890), hsa-mir-378a-3p (MIRT043923), hsa-mir-16-5p (MIRT031554)

    Block miRNA regulation of human, mouse, rat AGK using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AGK (see all 19):
    hsa-miR-411* hsa-miR-16-2* hsa-miR-379* hsa-miR-4328 hsa-miR-15a hsa-miR-424 hsa-miR-133a hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidAGK 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AGK

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGK


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AGK_HUMAN, Q53H12: Mitochondrion membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0016020membrane ----
    GO:0031966mitochondrial membrane IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    AGK for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AGK About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.38
    2Glycerolipid metabolism
    Glycerolipid metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    2 Kegg Pathways  (Kegg details for AGK):
        Glycerolipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: AGK_HUMAN, Q53H12
    Pathway: Lipid metabolism; glycerolipid metabolism


    AGK for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AGK
    Interactions:

        Search GeneGlobe Interaction Network for AGK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AGK (Q53H122, 3 ENSP000003475814) via UniProtKB, MINT, STRING, and/or I2D (see all 279)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HCKP086312, 3, ENSP000003650124MINT-65152 I2D: score=3 STRING: ENSP00000365012
    PDLIM1O001512, 3, ENSP000003603054MINT-65150 I2D: score=3 STRING: ENSP00000360305
    SNX4O952192, 3, ENSP000002517754MINT-65151 I2D: score=3 STRING: ENSP00000251775
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007205protein kinase C-activating G-protein coupled receptor signaling pathway IEA--
    GO:0046486glycerolipid metabolic process IEA--
    GO:0046513ceramide biosynthetic process IEA--
    GO:0046834lipid phosphorylation ----

    AGK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AGK

    Selected HMDB Compounds for AGK (see all 928)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Arachidonylglycerol2-Arachidonyl glycerol;(all-Z)-2-hydroxy-1-(hydroxymethyl)ethyl ester 5,8,11,14-Eicosatetraenoic acid (see all 21)53847-30-6--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----

    Selected Novoseek inferred chemical compound relationships for AGK gene (see all 38)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoinositide 86.2 47 9854311 (1), 11092809 (1), 15044087 (1), 18043260 (1) (see all 44)
    phosphatidylinositol 85.1 70 7612667 (5), 8999962 (2), 8987988 (2), 9748276 (2) (see all 47)
    lipid 84.1 468 7612667 (5), 20035616 (5), 11736661 (4), 8380145 (3) (see all 99)
    wortmannin 76.7 15 9182708 (3), 9139718 (1), 8943387 (1), 9334339 (1) (see all 12)
    ptdins(3)p 75.9 1 18537792 (1)
    phosphatidylinositol-3,4,5-trisphosphate 75.8 6 15242973 (1), 15505410 (1), 19689267 (1), 12734372 (1) (see all 6)
    ly294002 70.1 10 9139718 (1), 17302559 (1), 8943387 (1), 15155829 (1) (see all 8)
    phosphatidylinositol 3-phosphate 68.9 3 2168961 (1), 19841139 (1)
    pip2 62.8 5 15888659 (1), 19689267 (1), 9074761 (1), 11706993 (1)
    sphingosine 62.5 13 15252046 (2), 18638570 (1), 9726979 (1), 17482291 (1) (see all 9)



    AGK for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AGK gene: 
    NM_018238.3  

    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355413(uc011krg.1 uc003vwi.2) ENST00000473247 ENST00000495028
    ENST00000473884 ENST00000492693(uc003vwh.2) ENST00000494688 ENST00000465241
    ENST00000496784 ENST00000496273 ENST00000494053 ENST00000535825
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate AGK (see all 19):
    hsa-miR-411* hsa-miR-16-2* hsa-miR-379* hsa-miR-4328 hsa-miR-15a hsa-miR-424 hsa-miR-133a hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidAGK 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat AGK
      QuantiFast Probe-based Assays in human, mouse, rat AGK

    Selected AceView cDNA sequences (see all 155):

    AU133125 AL563534 NM_018238 AA446901 BU182711 AJ278150 BC022777 AW300022 
    BQ440189 AA595754 BM697149 AI686706 AA564851 AA426332 BM509576 BX440819 
    BI824671 BM091405 BG778116 CB158736 BP365260 BM505176 CR603206 BM461550 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AGK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AGK Expression
    About this image


    AGK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    AGK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AGK Protein Expression

    UniProtKB/Swiss-Prot: AGK_HUMAN, Q53H12
    Tissue specificity: Highly expressed in muscle, heart, kidney and brain

        Custom PCR Arrays for AGK
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGK

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for AGK gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Agk1 , 5 acylglycerol kinase1, 5 87.73(n)1
    91.92(a)1
      6 (18.82 cM)5
    699231  NM_023538.21  NP_076027.11 
     403254785 
    chicken
    (Gallus gallus)
    Aves AGK1 acylglycerol kinase 75(n)
    75.48(a)
      418121  XM_416354.4  XP_416354.2 
    lizard
    (Anolis carolinensis)
    Reptilia AGK6
    acylglycerol kinase
    72(a)
    1 ↔ 1
    5(16085385-16126489)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC529202 hypothetical protein MGC52920 73.81(n)    BC043761.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi38e092 wufi38e09 75.43(n)   334270  BC045347.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mulk1 Multi-substrate lipid kinase 43.95(n)
    30.55(a)
      326168  NM_164906.3  NP_723549.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F52C9.36
    Protein F52C9.3 (F52C9.3) mRNA, complete cds
    21(a)
    1 ↔ 1
    III(5321782-5326346) WBGene00018674
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LCB46
    LCB56
    Sphingoid long-chain base kinase, responsible for ...
    Minor sphingoid long-chain base kinase, paralog of...
    11(a)
    10(a)
    many ↔ many
    many ↔ many
    XV(652010-653884) YOR171C
    XII(665844-667907) YLR260W


    ENSEMBL Gene Tree for AGK (if available)
    TreeFam Gene Tree for AGK (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AGK gene
    CERKL2  SPHK12  CERK2  SPHK22  
    1 SIMAP similar gene for AGK using alignment to 4 protein entries:     AGK_HUMAN (see all proteins):
    FLJ10842

    AGK for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for AGK
    PGOHUM00000241549 PGOHUM00000233964


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AGK (see all 1808)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs715295281,2
    C--140598313(+) CTTTC-/T/TT  
            
    TTTTT
    1 -- int11NA 2
    rs1126318761,2
    C,F--140619582(+) GGCAAC/TTGGAC 1 -- int13Minor allele frequency- T:0.13CSA WA EA 239
    rs611438111,2
    --140619808(+) GCTGCA/GGTTTA 1 -- int10--------
    rs357929121,2
    C--140620411(+) GGAGAG/AGTCAG 1 -- int11Minor allele frequency- A:0.00NA 2
    rs735236281,2
    C,F--140621224(+) CCTGCG/ATCCGT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs132444411,2
    C,F--140639683(+) TTTTCT/GTGTGT 1 -- int11Minor allele frequency- G:0.06EA 120
    rs360886581,2
    C--140652302(+) GAAACAT/-ATGAA 1 -- int11Minor allele frequency- -:0.50NA 2
    rs711726091,2
    C--140658037(+) GAGAC-/AGGGGAA 1 -- int11Minor allele frequency- AG:0.00NA 2
    rs792463081,2
    --140658037(+) GAGACA/GGGGGA 1 -- int10--------
    rs117642101,2
    C,H--140658038(+) agacaG/Cgggaa 1 -- int11Minor allele frequency- C:0.00NS 118

    HapMap Linkage Disequilibrium report for AGK (141250989 - 141355044 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for AGK:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666672CNV Deletion23128226
    esv268124CNV Insertion20981092
    nsv510118CNV Loss20534489
    esv34135CNV Loss18971310

    Human Gene Mutation Database (HGMD): AGK
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AGK
    DNA2.0 Custom Variant and Variant Library Synthesis for AGK

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610345   
    OMIM disorders: 212350  614691  
    UniProtKB/Swiss-Prot: AGK_HUMAN, Q53H12
  • Mitochondrial DNA depletion syndrome 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Cataract 38 (CTRCT38) [MIM:614691]: 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. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for AGK (see all 38):    
    About MalaCards
    cataract, autosomal recessive congenital 5    cataract and cardiomyopathy    cataract 38, autosomal recessive    cataracts, autosomal recessive
    mitochondrial dna depletion syndrome    cataract    mitochondrial disorders    lactic acidosis
    pheochromocytoma    gout    burkitt's lymphoma    hypertrophic cardiomyopathy
    fibrosarcoma    insulin resistance    osteosarcoma    lateral sclerosis
    acute myocardial infarction    amyotrophic lateral sclerosis    labyrinthitis    nasopharyngitis


    AGK for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for AGK gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 32.2 16 19549252 (2), 19025891 (1), 19368348 (1), 11574762 (1) (see all 10)
    erythroleukemia 21.8 1 7606713 (1)
    tumors 6.37 10 19025891 (1), 19395305 (1), 14729945 (1), 16556064 (1) (see all 7)
    inflammation 1.99 4 19112101 (1), 19641220 (1), 17355200 (1)
    pheochromocytoma 0.784 2 8168074 (1), 7572346 (1)
    insulin resistance 0 1 10768093 (1)
    autoimmune diseases 0 1 17614878 (1)
    osteosarcoma 0 2 8168074 (1), 7572346 (1)
    prostate cancer 0 16 19549252 (4), 16246119 (3), 15939762 (3)

    Genetic Association Database (GAD): AGK
    Human Genome Epidemiology (HuGE) Navigator: AGK (1 document)

    Export disorders for AGK gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AGK gene, integrated from 10 sources (see all 309):
    (articles sorted by number of sources associating them with AGK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel acylglycerol kinase that produces lysophosphatidic acid modulates cross talk with EGFR in prostate cancer cells. (PubMed id 15939762)1, 2, 3, 9 Bektas M.... Spiegel S. (J. Cell Biol. 2005)
    2. MuLK, a eukaryotic multi-substrate lipid kinase. (PubMed id 15252046)1, 3, 9 Waggoner D.W....Bajjalieh S.M. (J. Biol. Chem. 2004)
    3. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. (PubMed id 22415731)1, 2 Aldahmesh M.A.... Alkuraya F.S. (Hum. Mutat. 2012)
    4. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (PubMed id 22277967)1, 2 Calvo S.E.... Mootha V.K. (Sci. Transl. Med. 2012)
    5. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. (PubMed id 22284826)1, 2 Mayr J.A.... Prokisch H. (Am. J. Hum. Genet. 2012)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. Functions of the multifaceted family of sphingosine kinases and some close relatives. (PubMed id 17135245)1, 3 Spiegel S. and Milstien S. (J. Biol. Chem. 2007)
    8. Further characterization of mammalian ceramide kinase: substrate delivery and (stereo)specificity, tissue distribution, and subcellular localization studies. (PubMed id 16269826)1, 2 Van Overloop H.... Van Veldhoven P.P. (J. Lipid Res. 2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55750 HGNC: 21869 AceView: FLJ10842 Ensembl:ENSG00000006530 euGenes: HUgn55750
    ECgene: AGK Kegg: 55750 H-InvDB: AGK

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AGK Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AGK gene:
    Search GeneIP for patents involving AGK

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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