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GK Gene

protein-coding   GIFtS: 66
GCID: GC0XP030671

Glycerol Kinase

Microbiology & Infectious Diseases Congress
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(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
Glycerol Kinase1 2     GKD2
ATP:Glycerol 3-Phosphotransferase2 3     glycerokinase2
EC 2.7.1.303 8     Glycerokinase3
GK12     

External Ids:    HGNC: 42891   Entrez Gene: 27102   Ensembl: ENSG000001988147   OMIM: 3004745   UniProtKB: P321893   

Export aliases for GK gene to outside databases

Previous GC identifers: GC0XP029171 GC0XP029355 GC0XP029873 GC0XP030032 GC0XP030431 GC0XP030581 GC0XP028409


(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 GK Gene:
The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation
of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and
glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively
spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Mar
2011)

GeneCards Summary for GK Gene:
GK (glycerol kinase) is a protein-coding gene. Diseases associated with GK include glycerol kinase deficiency, infantile form, and glycerol kinase deficiency, juvenile form. GO annotations related to this gene include glycerol kinase activity. An important paralog of this gene is GK2.

UniProtKB/Swiss-Prot: GLPK_HUMAN, P32189
Function: Key enzyme in the regulation of glycerol uptake and metabolism




(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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RefSeq DNA sequence:
NC_000023.11  NT_167197.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GK gene promoter:
         PPAR-gamma1   STAT3   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGK promoter sequence
   Search Chromatin IP Primers for GK

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


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

Entrez Gene cytogenetic band: Xp21.3   Ensembl cytogenetic band:  Xp21.2   HGNC cytogenetic band: Xp21.3

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP030671:  view genomic region     (about GC identifiers)

Start:
30,671,476 bp from pter      End:
30,749,579 bp from pter
Size:
78,104 bases      Orientation:
plus strand

(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GLPK_HUMAN, P32189 (See protein sequence)
Recommended Name: Glycerol kinase  
Size: 559 amino acids; 61245 Da
Sequence caution: Sequence=CAA48346.1; Type=Frameshift; Positions=201, 210, 459;
Secondary accessions: A6NJP5 B2R833 Q6IQ27 Q8IVR5 Q9UMP0 Q9UMP1
Alternative splicing: 4 isoforms:  P32189-3   P32189-1   P32189-2   P32189-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GK: NX_P32189

Explore proteomics data for GK at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys5, Lys6, Lys31, Lys86, Lys340
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GK (P32189) (see all 27)
     TYGTGCF  GTIDSWL  TGGVNGG  NASRTML 


    See GK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000158.1  NP_001121599.1  NP_001191948.1  NP_976325.1  

    ENSEMBL proteins: 
     ENSP00000368229   ENSP00000368226   ENSP00000368228   ENSP00000418873   ENSP00000420676  
     ENSP00000419332   ENSP00000417942   ENSP00000368224   ENSP00000404682   ENSP00000419771  
     ENSP00000368221   ENSP00000401720  
    Reactome Protein details: P32189

    GK Human Recombinant Protein Products:

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    Novus Biologicals GK Proteins
    Novus Biologicals GK Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for GK

    GK Antibody Products:

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    GK Assay Products:

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    Cloud-Clone Corp. ELISAs for GK
    Cloud-Clone Corp. CLIAs for GK


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GK: Glycerol kinases

    4 InterPro protein domains:
     IPR018485 Carb_kinase_FGGY_C
     IPR018483 Carb_kinase_FGGY_CS
     IPR005999 Glycerol_kin
     IPR018484 Carb_kinase_FGGY_N

    Graphical View of Domain Structure for InterPro Entry P32189

    ProtoNet protein and cluster: P32189

    1 Blocks protein domain: IPB000577 Carbohydrate kinase

    UniProtKB/Swiss-Prot: GLPK_HUMAN, P32189
    Similarity: Belongs to the FGGY kinase family


    GK 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: GLPK_HUMAN, P32189
    Function: Key enzyme in the regulation of glycerol uptake and metabolism
    Catalytic activity: ATP + glycerol = ADP + sn-glycerol 3-phosphate

         Genatlas biochemistry entry for GK:
    glycerol kinase,cytosolic

         Enzyme Number (IUBMB): EC 2.7.1.301 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004370glycerol kinase activity NAS8401584
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----
    GO:0016773phosphotransferase activity, alcohol group as acceptor ----
         
    GK for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gyk):
     behavior/neurological  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  liver/biliary system 
     mortality/aging  nervous system 

    GK for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gyktm1Wjc for GK

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GK
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GK

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GK
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GK

    miRNA
    Products:
        
    miRTarBase miRNAs that target GK:
    hsa-mir-10b-5p (MIRT047490), hsa-mir-132-3p (MIRT021809)

    Block miRNA regulation of human, mouse, rat GK using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GK (see all 38):
    hsa-miR-142-5p hsa-miR-548j hsa-miR-3607-3p hsa-miR-607 hsa-miR-4328 hsa-miR-570 hsa-miR-890 hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmidGK 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GK
    Predesigned siRNA for gene silencing in human, mouse, rat GK

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for GK

    Clone
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    OriGene ORF clones in mouse, rat for GK
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): GK (NM_001345)
    Sino Biological Human cDNA Clone for GK
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GK
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GK

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for GK
    Browse ESI BIO Cell Lines and PureStem Progenitors for GK 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GK


    (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
    GLPK_HUMAN, P32189: Mitochondrion outer membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm.
    Note=In sperm and fetal tissues, the majority of the enzyme is bound to mitochondria, but in adult tissues, such
    as liver found in the cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol4
    peroxisome2
    endoplasmic reticulum1
    extracellular1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion ----
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    GK 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 GK About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    3triacylglycerol biosynthesis
    Triacylglyceride Synthesis0.36
    4Type II diabetes mellitus
    Type II diabetes mellitus0.35
    5Mitochondrial LC-Fatty Acid Beta-Oxidation
    Fatty Acid Beta Oxidation0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for GK
        Type II diabetes mellitus
    Fatty Acid Beta Oxidation
    Triacylglyceride Synthesis
    glycerol degradation I


    1 Reactome Pathway for GK
        Triglyceride Biosynthesis


    3 Kegg Pathways  (Kegg details for GK):
        Glycerolipid metabolism
    Metabolic pathways
    PPAR signaling pathway

    UniProtKB/Swiss-Prot: GLPK_HUMAN, P32189
    Pathway: Polyol metabolism; glycerol degradation via glycerol kinase pathway; sn-glycerol 3-phosphate from
    glycerol: step 1/1


    GK for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GK: 

              Fatty Acid Metabolism in human mouse rat
              Fatty Liver in human mouse rat
              PPAR Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for GK (P321891 ENSP000003682264) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NR4A1P227361, ENSP000002430504EBI-3926629,EBI-721550 STRING: ENSP00000243050
    HHATENSP000002614584STRING: ENSP00000261458
    HHATLENSP000003106214STRING: ENSP00000310621
    PI4KAENSP000002558824STRING: ENSP00000255882
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006071glycerol metabolic process IMP8499898
    GO:0006072glycerol-3-phosphate metabolic process ----
    GO:0006641triglyceride metabolic process IMP8651297
    GO:0019432triglyceride biosynthetic process TAS--

    GK 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 GK (GLPK)

    5 HMDB Compounds for GK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Glycerol1,2,3-Trihydroxypropane (see all 22)56-81-5--
    Glycerol 3-phosphate1-(dihydrogen phosphate) Glycerol (see all 37)57-03-4--
    Norepinephrine(-)-(R)-Norepinephrine (see all 32)51-41-2--

    Selected Novoseek inferred chemical compound relationships for GK gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycerol 92.1 306 9302256 (6), 9169099 (4), 10737976 (4), 16025401 (4) (see all 99)
    glycerol 3-phosphate 82.6 21 11112347 (2), 10364471 (2), 7812436 (1), 14641009 (1) (see all 15)
    dihydroxyacetone 57.7 1 11821387 (1)
    phosphoenolpyruvate 45.8 1 16524879 (1)
    rosiglitazone 40.9 2 16524879 (1), 17242918 (1)
    atp 40.8 18 10364471 (4), 8385421 (1), 16545593 (1), 17090661 (1) (see all 9)
    fructose-1,6-bisphosphate 36.4 1 9930671 (1)
    thiazolidinedione 34.2 3 16154425 (2)
    fatty acid 25.4 1 12767049 (1)
    pyruvate 24.9 1 16524879 (1)



    GK 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,
    Conferences by KenesGroup, 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 GK gene (4 alternative transcripts): 
    NM_000167.5  NM_001128127.2  NM_001205019.1  NM_203391.3  

    Unigene Cluster for GK:

    Glycerol kinase
    Hs.1466  [show with all ESTs]
    Unigene Representative Sequence: NM_001205019
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378946(uc004dch.4 uc004dci.4 uc011mka.2) ENST00000378943(uc022buj.1 uc010ngj.3 uc011mjz.2 uc010ngk.3)
    ENST00000378945 ENST00000481024 ENST00000479048 ENST00000487652 ENST00000471362
    ENST00000378941 ENST00000425166 ENST00000488296 ENST00000378938 ENST00000427190

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat GK using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GK (see all 38):
    hsa-miR-142-5p hsa-miR-548j hsa-miR-3607-3p hsa-miR-607 hsa-miR-4328 hsa-miR-570 hsa-miR-890 hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmidGK 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 4): GK (NM_001345)
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GK
      QuantiTect SYBR Green Assays in human, mouse, rat GK
      QuantiFast Probe-based Assays in human, mouse, rat GK

    Additional mRNA sequence: 

    AK294304.1 AK294938.1 AK308238.1 AK313215.1 BC018009.1 BC037549.1 BC042421.1 BC071595.1 
    BX647604.1 L13943.1 X68285.1 X69886.1 

    15 DOTS entries:

    DT.442938  DT.95270365  DT.100693278  DT.100754328  DT.97833548  DT.65286840  DT.100735677  DT.75159223 
    DT.95270364  DT.97841339  DT.100754326  DT.121299398  DT.91696449  DT.92064336  DT.95342233 

    Selected AceView cDNA sequences (see all 114):

    AA689298 AI078462 AI001839 NM_000167 AA361450 CD364476 BF970113 NM_203391 
    BC018009 AA377027 BC037549 BX647604 BM817736 T28960 BM310564 BM931627 
    CD367213 AA873120 BG655516 AW515614 CD674490 BX476576 X69886 BV167295 

    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)
    About This Section

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    GK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCCTCCAAG
    GK Expression
    About this image


    GK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             Loop of Henle Cells Loop of Henle
             Metanephros
     
     Epithelial Cells
             Loop of Henle Cells Loop of Henle
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Skeletal Muscle (Muscoskeletal System)
             Extraocular Muscles
    GK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1466

    UniProtKB/Swiss-Prot: GLPK_HUMAN, P32189
    Tissue specificity: Highly expressed in the liver, kidney and testis. Isoform 2 and isoform 3 are expressed
    specifically in testis and fetal liver, but not in the adult liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GK: 
              Fatty Acid Metabolism in human mouse rat
              Fatty Liver in human mouse rat
              PPAR Targets in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GK
    OriGene qSTAR qPCR primer pairs in human, mouse for GK
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GK
    QuantiTect SYBR Green Assays in human, mouse, rat GK
    QuantiFast Probe-based Assays in human, mouse, rat GK
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GK

    (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 eukaryotes.

    Orthologs for GK gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gyk5
    Gykl11
    glycerol kinase5
    glycerol kinase-like 11
    82.7(n)1
    82.33(a)1
      X (39.32 cM)5
    146251  NM_010293.31  NP_034423.21 
     857019375 
    chicken
    (Gallus gallus)
    Aves GK1 glycerol kinase 79.17(n)
    84.92(a)
      418589  XM_003640511.2  XP_003640559.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    71(a)
    1 → many
    3(129108066-129147074)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gk1 glycerol kinase 76.51(n)
    85.69(a)
      100038285  NM_001097398.1  NP_001090867.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.150062 Transcribed sequence with weak similarity to protein more 78.39(n)    CK238842.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gyk3
    Gk1
    glycerol kinase3
    Gk1
    52(a)
    (best of 4)3
    51.24(n)1
    48.7(a)1
      61B23
    382211  NM_167914.21  NP_728666.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R11F4.11 , 3 Glycerol kinase3
    R11F4.11
    49(a)
    (best of 2)3
    54.14(n)1
    51.11(a)1
      II(4092010-4094080)3
    1737471  NM_062320.41  NP_494721.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GUT1(YHL032C)4
    GUT11
    Glycerol kinase, converts glycerol to glycerol-3-phosphate; more4
    GUT11
    51.43(n)1
    48.72(a)1
      8(38508-36379)4
    8563531, 4  NP_011831.11, 4 
    wheat
    (Triticum aestivum)
    Liliopsida Ta.93842 Triticum aestivum transcribed sequence with moderate more 70.64(n)    CD876394.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GK gene
    GK22  GK52  
    3 SIMAP similar genes for GK using alignment to 10 protein entries:     GLPK_HUMAN (see all proteins):
    GK3P    GK2    GK5

    GK for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for GK
    PGOHUM00000245673 PGOHUM00000241472


    (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 GK (see all 1080)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0154334
    Glycerol kinase deficiency (GKD)4--see VAR_0154332 N D mis40--------
    VAR_0013774
    Glycerol kinase deficiency (GKD)4--see VAR_0013772 D V mis40--------
    VAR_0101384
    Glycerol kinase deficiency (GKD)4--see VAR_0101382 W R mis40--------
    rs1847909421,2
    --30583936(+) TTCACA/GGTAAA 4 -- us2k10--------
    rs1411360551,2
    C--30583959(+) GCTGAA/GCTCAA 4 -- us2k10--------
    rs1879053471,2
    --30583972(+) CTTCCA/GTCTAA 4 -- us2k10--------
    rs1918261371,2
    --30584029(+) GTGACA/GCCTGA 4 -- us2k10--------
    rs1843019811,2
    --30584142(+) CCCATA/GTACAT 4 -- us2k10--------
    rs1891238401,2
    --30584153(+) CTAGCA/CCAACT 4 -- us2k10--------
    rs1507461501,2
    --30584486(+) TTAAAC/GCAAGC 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for GK (30671476 - 30749579 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GK:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740053CNV Deletion23290073

    Human Gene Mutation Database (HGMD): GK
    Locus Specific Mutation Databases (LSDB): GK

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GK
    DNA2.0 Custom Variant and Variant Library Synthesis for GK

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300474   
    OMIM disorders: 307030  
    UniProtKB/Swiss-Prot: GLPK_HUMAN, P32189
  • GK deficiency (GKD) [MIM:307030]: Can be either symptomatic with episodic metabolic and CNS
    decompensation or asymptomatic with hyperglycerolemia and hyperglyceroluria only. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for GK (see all 46):    
    About MalaCards
    glycerol kinase deficiency, infantile form    glycerol kinase deficiency, juvenile form    glycerol kinase deficiency, adult form    hyperglycerolemia
    red-green color blindness    x-linked adrenal hypoplasia congenita    complex glycerol kinase deficiency    aland island eye disease
    dystrophinopathies    acute liver failure    becker muscular dystrophy    color blindness
    metaphyseal dysplasia    eye disease    duchenne muscular dystrophy    central precocious puberty
    addison's disease    hemophagocytic lymphohistiocytosis    ocular albinism    precocious puberty

    3 diseases from the University of Copenhagen DISEASES database for GK:
    Duchenne muscular dystrophy     Aland Island eye disease     Intellectual disability

    GK for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for GK gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycerol kinase deficiency 99.2 115 8651297 (8), 10737976 (4), 12855219 (4), 16025401 (4) (see all 60)
    adrenal hypoplasia, congenital 94.1 15 7955386 (2), 2159212 (2), 2163974 (1), 19859888 (1) (see all 11)
    addisons disease 89.3 23 1601004 (2), 8314578 (2), 1999345 (2), 8033374 (2) (see all 19)
    muscular dystrophy duchenne 83.6 37 19078586 (2), 7955386 (2), 2159212 (2), 8033374 (2) (see all 30)
    albinism ocular 60.3 1 2159212 (1)
    muscular dystrophy becker 60.1 4 1395032 (1), 10757639 (1), 8240114 (1), 9447607 (1)
    enzyme deficiency 45.9 3 12855219 (1), 7512107 (1), 9302256 (1)
    eye diseases 43 4 2163974 (1), 8357005 (1), 2159212 (1)
    muscular dystrophies 41.9 4 8357005 (1), 1999345 (1), 9447607 (1)
    developmental delay 39.9 1 7512107 (1)

    Genatlas disease: GK
    hyperglycerolemia,pseudohypertriglyceridemia,sometimes presenting with hypoglycemia,ketoacidosis and recurrent
    convulsions in infancy

    Genetic Association Database (GAD): GK
    Human Genome Epidemiology (HuGE) Navigator: GK (209 documents)

    Export disorders for GK 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 GK gene, integrated from 10 sources (see all 153):
    (articles sorted by number of sources associating them with GK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons. (PubMed id 7987308)1, 2, 3 Sargent C.A.... Affara N.A. (Hum. Mol. Genet. 1994)
    2. Mutations and phenotype in isolated glycerol kinase deficiency. (PubMed id 8651297)1, 2, 9 Walker A.P.... Monaco A.P. (Am. J. Hum. Genet. 1996)
    3. Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency. (PubMed id 9719371)1, 2, 9 Sjarif D.R.... Poll-The B.T. (J. Med. Genet. 1998)
    4. Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait. (PubMed id 10736265)1, 2, 9 Gaudet D.... Rioux J.D. (Am. J. Hum. Genet. 2000)
    5. Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation. (PubMed id 10851254)1, 2, 9 Sargent C.A.... Affara N.A. (J. Med. Genet. 2000)
    6. Isolation of the human Xp21 glycerol kinase gene by positional cloning. (PubMed id 8499898)1, 2, 9 Walker A.P.... Monaco A.P. (Hum. Mol. Genet. 1993)
    7. Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. (PubMed id 8401584)1, 2, 9 Guo W....McCabe E.R.B. (Nat. Genet. 1993)
    8. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    9. 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)
    10. Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue. (PubMed id 8499912)1, 2 Sargent C.A....Ferguson-Smith M.A. (Hum. Mol. Genet. 1993)

    (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: 2710 HGNC: 4289 AceView: GK Ensembl:ENSG00000198814 euGenes: HUgn2710
    ECgene: GK Kegg: 2710 H-InvDB: GK

    (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 GK Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GK[genesymbol]

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

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



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