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GK Gene

protein-coding   GIFtS: 60

GC0XP028409
glycerol kinase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
glycerol kinase1 2     glycerokinase2
GK11 2     Glycerokinase3
GKD1 2     EC 2.7.1.303
ATP:glycerol 3-phosphotransferase2 3     

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

Export aliases for GK gene to outside databases

Previous GC identifers: GC0XP029171 GC0XP029355 GC0XP029873 GC0XP030032 GC0XP030431 GC0XP030581 GC0XP030671


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GK:
The product of this gene belongs to the FGGY kinase family of proteins and encodes glycerol kinase. Glycerol kinase 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. Defects in this gene are the cause of glycerol kinase deficiency (GKD).
Alternatively spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq)

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GK gene promoter:
         FOXO1a   PPAR-gamma2   PPAR-gamma1   STAT3   POU2F1   RORalpha1   Pax-2   GCNF-1   GCNF-2   ATF   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for GK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP028409:  view genomic region     (about GC identifiers)

Start:
28,409,908 bp from pter
End:
28,486,948 bp from pter
Size:
77,041 bases
Orientation:
plus strand

1 alternative location:
ChrX+ 30,671,476-30,748,725     
RefSeq DNA sequence:
NC_000023.10  NT_167197.1  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: GLPK_HUMAN, P32189 (See protein sequence)
Recommended Name: Glycerol kinase  
Size: 559 amino acids; 61245 Da
Subcellular location: 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
Sequence caution: Sequence=CAA48346.1; Type=Frameshift; Positions=201, 210, 459;
Secondary accessions: B2R833 Q8IVR5 Q9UMP0 Q9UMP1
Alternative splicing: 3 isoforms:  P32189-3   P32189-1   P32189-2   

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

REFSEQ proteins (3 alternative transcripts): 
NP_000158.1  NP_001121599.1  NP_976325.1  


ENSEMBL proteins: 
ENSP00000417942 ENSP00000368229 ENSP00000401720 ENSP00000418873 ENSP00000419771 ENSP00000368228 
ENSP00000368231 ENSP00000404682 ENSP00000419332 ENSP00000368226 ENSP00000368221 ENSP00000380665 
ENSP00000368224 ENSP00000408599 ENSP00000420676 


Human Recombinant Proteins 
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
OriGene Purified Proteins (see all 2): GK
OriGene Protein Over-expression Lysate (see all 2): GK
GenScript Custom Purified and Recombinant Proteins Services for GK 
Novus Biologicals Proteins for GK
Novus Biologicals Lysates for GK
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins

5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm NAS--
GO:0005739 mitochondrion IEA--
GO:0005741 mitochondrial outer membrane NAS--
GO:0005829 cytosol EXP15845384
GO:0016020 membrane IEA--
About this table

GK for ontologies           About GeneDecksing



Antibodies for GK: 
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for GK
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
GenScript Superior Antibodies for GK 
Novus Biologicals Antibodies for GK
Epitomics antibodies for GK

Assays for GK: 
Browse Kits and Assays available from Millipore
Browse ELISAs at Sigma-Aldrich
OriGene Custom Immunoassay Development 
Browse OriGene Fluorogenic Cell Assay Kits 
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for GK 
Browse Enzo Life Sciences for kits & assays
Uscn ELISAs and CLIAs for GK 


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GK for domains           About GeneDecksing

4 InterPro domains/families:
 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 family: IPB000577 Carbohydrate kinase

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


(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: GLPK_HUMAN, P32189
Function: Key enzyme in the regulation of glycerol uptake and metabolism
Catalytic activity: ATP + glycerol = ADP + sn-glycerol 3-phosphate
Enzyme Number (IUBMB): EC 2.7.1.30 

Inhib.
RNA:
    
Browse for Gene Knock-down Tools from Millipore
Sigma-Aldrich Nano Scale siRNA for GK
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for GK
Sigma-Aldrich shRNA Panels and shRNA for GK
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 5): GK
OriGene shRNA RFP (see all 5): GK
OriGene basic RS shRNA (see all 5): GK
OriGene siRNA (see all 4): GK
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GK 
miRNA:Sigma-Aldrich microRNA Mimics for GK
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GK 
8/10 SABiosciences Assays for microRNAs that regulate GK (see all 10):
hsa-miR-548j hsa-miR-559 hsa-miR-548i hsa-miR-548h hsa-miR-548c-5p hsa-miR-340 hsa-miR-182 hsa-miR-567

Gene
Editing:
Browse CompoZr Knockout ZFN at Sigma-Aldrich 

Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
Browse iPSC Reprogramming Factors at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): GK
OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): GK
OriGene untagged cDNA clones in CMV expression vector (see all 3): GK
OriGene 3'-UTR clone (see all 3): GK 
Browse MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for GK 
Browse Sino Biological Human cDNA Clones

Cell
Lines:
  
GenScript Custom overexpressing Cell Line Services for GK 

Genatlas biochemistry entry for GK:
glycerol kinase,cytosolic

5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0000166 nucleotide binding IEA--
GO:0004370 glycerol kinase activity NAS8401584
GO:0005524 ATP binding IEA--
GO:0016740 transferase activity IEA--
GO:0016773 phosphotransferase activity, alcohol group as acceptor ----
About this table

GK for ontologies           About GeneDecksing

Animal Models: 7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gyk):

behavior/neurologicalendocrine/exocrine glandgrowth/sizehomeostasis/metabolismlethality-postnatal
liver/biliary systemnervous system

GK for phenotypes           About GeneDecksing


(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section


GK for pathways           About GeneDecksing

2 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  GK
    Glycerolipid Metabolism
PPARα/RXRα Activation

3 Kegg Pathways  (Kegg details for GK):
    hsa00561 Glycerolipid metabolism
hsa01100 Metabolic pathways
hsa03320 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

    SABiosciences Pathway-Focused PCR Array including GK: PAHS-007A 

    Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for GK
    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GK

5/12 Interacting proteins for GK (ENSP000003682263) via UniProtKB, MINT, and/or STRING (see all 12)

InteractantInteraction Details
GeneCardExternal ID(s)
ADHFE1ENSP000002765763STRING: ENSP00000276576
AKR1A1ENSP000003126063STRING: ENSP00000312606
AKR1B1ENSP000002859303STRING: ENSP00000285930
GPAMENSP000002652763STRING: ENSP00000265276
GPD2ENSP000003086103STRING: ENSP00000308610
About this table

5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005975 carbohydrate metabolic process IEA--
GO:0006071 glycerol metabolic process NAS--
GO:0006072 glycerol-3-phosphate metabolic process IEA--
GO:0019432 triglyceride biosynthetic process EXP8944226
GO:0044255 cellular lipid metabolic process TAS--
About this table

GK for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

GK for compounds           About GeneDecksing

Browse Small Molecules at Sigma-Aldrich
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GK
10/20 Novoseek chemical compound relationships for GK gene (see all 20)
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)
About this table



(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib.
RNA:
     
Browse for Gene Knock-down Tools from Millipore
Sigma-Aldrich Nano Scale siRNA for GK
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for GK
Sigma-Aldrich shRNA Panels and shRNA for GK
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 5): GK
OriGene shRNA RFP (see all 5): GK
OriGene basic RS shRNA (see all 5): GK
OriGene siRNA (see all 4): GK
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GK 
miRNA: Sigma-Aldrich microRNA Mimics for GK
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GK 
8/10 SABiosciences Assays for microRNAs that regulate GK (see all 10):
hsa-miR-548j hsa-miR-559 hsa-miR-548i hsa-miR-548h hsa-miR-548c-5p hsa-miR-340 hsa-miR-182 hsa-miR-567
Clones: Browse FLAG tag genes at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): GK
OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): GK
OriGene untagged cDNA clones in CMV expression vector (see all 3): GK
OriGene 3'-UTR Clone (see all 3): GK 
Browse OriGene MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for GK 
Primers: OriGene genome-wide validated SYBR primer pairs: GK
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for GK: PPH01092A

REFSEQ mRNAs for GK gene (3 alternative transcripts): 

NM_000167.4  NM_001128127.1  NM_203391.2  

Additional cDNA 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.92064336  DT.100735677  DT.121281357 
DT.75159223  DT.91696449  DT.95270364  DT.97841339  DT.100754326  DT.121299398  DT.95342233 

24/114 AceView cDNA sequences (see all 114):

T28960 BM817736 NM_203391 AA873120 BC018009 BM310564 AA377027 AA689298 
AI001839 BX647604 AI078462 BC037549 CD367213 NM_000167 CD364476 BF970113 
CD674490 BM931627 AA361450 AW515614 BG655516 AL036737 CD370885 BV202427 

highest scoring ESTs for GK:

AI830490 AI741715 AA361450 AA640399 AA689298 AA863006 AA873120 AA995519 AI269325 AI378526 

Unigene Cluster for GK:

Glycerol kinase
Hs.1466  [show with all ESTs]
Unigene Representative Sequence: NM_001128127


GeneLoc Exon Structure

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000471362 ENST00000378946 ENST00000427190 ENST00000481024 ENST00000488296
ENST00000378945 ENST00000378948(uc004dch.3 uc010ngj.2 uc004dci.3 uc011mjz.1 uc011mka.1 uc010ngk.2)
ENST00000425166 ENST00000487652 ENST00000378943 ENST00000378938 ENST00000397531
ENST00000378941 ENST00000451432 ENST00000479048

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

GK expression in normal and diseased human tissues

1  / 2  / 3

17 probe-sets matching GK gene

Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
61873_at2, 3 U95-C 1 1.00 1.00 0.97 0.93 AI741715 1.00 0.90 0.95 1
74732_s_at2, 3 U95-D 3 1.00 0.74 0.96 1.48 AW007714 0.60 0.75 0.68 1
38130_s_at2, 3 U95-A 4 1.00 0.42 0.99 0.52 X78711 0.20 0.07 0.15 3
38129_at2, 3 U95-A 2 0.94 0.93 0.97 0.84 X78713 0.20 1.00 0.72 1
81410_at2, 3 U95-E 1 0.69 1.00 0.96 1.30 AI830490 1.00 1.00 1.00 1
207387_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000167 0.60 1.00 0.82 1
215977_x_at2, 3 U133-A 4 1.00 0.73 -- -- X68285 0.60 1.00 0.82 1
217167_x_at2 U133-A 4 0.91 0.66 -- -- -- -- -- -- --
214681_at2, 3 U133-A 1 0.73 1.00 -- -- AI830490 1.00 1.00 1.00 1
215966_x_at2, 3 U133-A 3 0.64 0.48 -- -- AA292874 0.40 0.33 0.37 1
216316_x_at2, 3 U133-A 4 0.55 0.60 -- -- X78713 0.20 1.00 0.72 1
207387_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
215977_x_at2 U133Plus2 4 1.00 0.73 -- -- -- -- -- -- --
217167_x_at2 U133Plus2 4 0.91 0.66 -- -- -- -- -- -- --
214681_at2 U133Plus2 1 0.73 1.00 -- -- -- -- -- -- --
215966_x_at2 U133Plus2 3 0.64 0.48 -- -- -- -- -- -- --
216316_x_at2 U133Plus2 4 0.55 0.60 -- -- -- -- -- -- --
About this table

GK for expression           About GeneDecksing

Data from Genenote  (Publications) and GNF BioGPS
    About these images
GK gene expression
GK gene electronic northern expression
GK gene sage expression
About these images

CGAP SAGE TAG: ACCCTCCAAG

SOURCE GeneReport for Unigene cluster: Hs.1466

Expression variation in blood from EXPOLDB for GK

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

Primers: OriGene genome-wide validated SYBR primer pairs: GK
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for GK: PPH01092A
    SABiosciences Expression via Pathway-Focused PCR Array including GK: PAHS-007A 


(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for GK gene from 5/17 species (see all 17)
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
GK1   -- glycerol kinase 93.33(n)
96.42(a)
480872  XM_844916.1  XP_850009.1 
chimpanzee
(Pan troglodytes)
GK1   -- glycerol kinase 97.65(n)
98.28(a)
739089  XM_001150384.1  XP_001150384.1 
cow
(Bos taurus)
GK1   -- glycerol kinase 92.58(n)
96.6(a)
505987  NM_001075236.1  NP_001068704.1 
rat
(Rattus norvegicus)
Gk1   -- glycerol kinase 91.67(n)
97.33(a)
79223  NM_024381.1  NP_077357.1 
mouse
(Mus musculus)
Gyk1 , 5 X (39.32 cM)5
glycerol kinase1, 5 91.35(n)1
97.14(a)1
149331  NM_212444.21  NP_997609.11 
 AK0081865  AK0371285  (see all 20)
About this table        Species with no ortholog for GK

ENSEMBL Gene Tree for GK (if available)

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for GK gene
GK22  GK52  

GK for paralogs           About GeneDecksing



(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

10/388 NCBI SNPs in GK are shown (see all 388)
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr X posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
----------
rs6191,2
C,F,O,30713963(+) ttgaaA/Gcatga 3 -- int113Minor allele frequency- G:0.30NA NS EA WA 611
rs6201,2
C,F30714057(+) TGTTCC/TGTTCT 3 -- int14Minor allele frequency- T:0.05NA 91
rs7281491,2
C,F,O,A,30673869(+) TCACTA/GCAGGT 3 -- int123Minor allele frequency- G:0.08NA EA NS WA 1509
rs9312401,2
C,F,O,A,H,30734949(+) TATTTG/CTTGAA 3 -- int117Minor allele frequency- C:0.25MN NS EA NA WA 1089
rs9677851,2
C,F,A,H,30674260(+) GAGAGA/GTTGCT 3 -- int1 trp316Minor allele frequency- G:0.31NA EA MN NS WA 1070
rs14828341,2
C,F,A,30737209(+) ACATTC/TCTGAT 3 -- int116Minor allele frequency- T:0.25EA NA NS WA 844
rs18036591,2
C,A30746870(+) ACCAAA/CTCATG 3 -- ut31 ese30--------
rs18719651,2
C,F30724527(+) ATCTTT/CCAGTT 3 -- int11Minor allele frequency- C:0.08MN 184
rs20354311,2
C,F30736755(+) AAAAGG/TTTAGA 3 -- int12Minor allele frequency- T:0.06MN NA 185
rs20354321,2
C,F,A,30715827(+) CTTCTT/CTCTCC 3 -- int1 trp38Minor allele frequency- C:0.22NS EA NA WA 422
About this table

HapMap Linkage Disequilibrium images for GK (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GK
     1 CNV: 3265

QIAGEN SeqTarget long-range PCR primers for resequencing GK 

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GK for disorders           About GeneDecksing

OMIM: 300474   disorders: 307030  

UniProtKB/Swiss-Prot: GLPK_HUMAN, P32189

  • Defects in GK are the cause of GK deficiency (GKD) [MIM:307030]. This disease can be either symptomatic with
  • episodic metabolic and CNS decompensation or asymptomatic with hyperglycerolemia and hyperglyceroluria only

    10/19 Novoseek disease relationships for GK gene (see all 19)

    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)
    About this table

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

    Locus Specific Mutation Databases (LSDB): GK
    Human Gene Mutation Database (HGMD): GK
    Human Genome Epidemiology (HuGE) Navigator: GK (186 documents)

    Export disorders and mutations for GK gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/147 PubMed articles for GK gene, integrated from 7 sources (see all 147):
    (articles sorted by number of sources associating them with GK)
    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. (1994)
    2. Mutations and phenotype in isolated glycerol kinase deficiency. (PubMed id 8651297)1, 2, 7 Walker A.P.... Monaco A.P. (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, 7 Sjarif D.R.... Poll-The B.T. (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, 7 Gaudet D.... Rioux J.D. (2000)
    5. Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation. (PubMed id 10851254)1, 2, 7 Sargent C.A.... Affara N.A. (2000)
    6. Isolation of the human Xp21 glycerol kinase gene by positional cloning. (PubMed id 8499898)1, 2, 7 Walker A.P.... Monaco A.P. (1993)
    7. Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. (PubMed id 8401584)1, 2, 7 Guo W....McCabe E.R.B. (1993)
    8. 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. (2004)
    9. 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. (1993)
    10. Characterization of the human glycerol kinase promoter: identification of a functional HNF-4alpha binding site and evidence for transcriptional activation. (PubMed id 14654354)1, 7 Stepanian S.V....Dipple K.M. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2710 HGNC: 4289 AceView: GK Ensembl:ENSG00000198814 euGenes: HUgn2710
    ECgene: GK Kegg: 2710 H-InvDB: GK

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GK

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

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