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FLASH GENE
Symbol GK contributors: mct - updated : 07-04-2007
HGNC name glycerol kinase
HGNC id 4289
Corresponding disease
GKD glycerol kinase deficiency
Location Xp22.3-p21.3      Physical location : 30.671.475 - 30.748.724
Synonym symbol(s) GKD, GK1
EC.number 2.7.1.30
DNA
TYPE functioning gene
STRUCTURE 77.00 kb     20 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   enhancer
text structure a functional HNF4A consensus binding sites in the 5' upstream region, important for increased levels of GK expression
MAPPING cloned Y linked   status confirmed
Map pter - (RDXP2 ,DXS68 ) - DXS67 - DXS669 - DXS28 - DXS1086 - DXS1101 - DXS1147 - DXS1149 - DXS1088 - DXS727 - DXS1074 - DXS319 - DXS1075 - DXS1076 - DXS1077 - DXS708 - GK 5' - DXS1078 - GK 3' - DXS1079 - DXS1080 - DXS1081 - DXS726 - DMD DMD 3' - cen
Authors Ellison (93)
Physical map
LOC139420 Xp22.11 similar to KIAA1387 protein RDXP2 Xp22.12 radixin pseudogene 2 FLJ32742 Xp22.11 hypothetical protein FLJ32742 LOC347442 Xp22.11 similar to H326 FLJ32965 Xp22.11 hypothetical protein FLJ32965 LOC392434 X similar to melanoma antigen LOC392435 X similar to melanoma antigen LOC392436 X similar to melanoma antigen MAGE LOC340569 Xp22.11 pseudogene of origin recognition complex, subunit 1-like LOC139425 Xp22.11 similar to H326 IL1RAPL1 Xp22.1-p21.3 interleukin 1 receptor accessory protein-like 1 MAGEB2 Xp21.3 melanoma antigen, family B, 2 MAGEB3 Xp21.3 melanoma antigen, family B, 3 MAGEB4 Xp21.3 melanoma antigen, family B, 4 MAGEB1 Xp21.3 melanoma antigen, family B, 1 NR0B1 Xp21.3 nuclear receptor subfamily 0, group B, member 1 FLJ11577 Xp21.3 hypothetical protein FLJ11577 LOC392437 X similar to hypothetical protein GK Xp22.3-p21.3 glycerol kinase TAB3 Xp21.3 TAK1-binding protein 3 FTHL17 Xp21 ferritin, heavy polypeptide-like 17 DMD Xp21.3-p21.2 dystrophin (muscular dystrophy, Duchenne and Becker types) LOC392438 X hypothetical gene supported by NM_004607 LOC158724 Xp21.1 similar to hypothetical protein FLJ35782 LOC389843 X similar to hypothetical protein FLJ35782 LOC139431 Xp21.1 similar to ferritin heavy chain - chicken LOC392439 X similar to PR264/SC35
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 3591 - 530 - Stepanian (03)
19 exons
- - 3573 57 524 - Stepanian (03)
lacks an alternate in frame exon
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
 pharynx   highly
Nervousnervecranial nerve  highly
Reproductivemale systemtestis  highly
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion sperm
at STAGE
physiological period fetal
Text liver
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to murine Gyk
homolog to rattus Gyk
Homologene
FAMILY FGGY kinase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,outer
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,cytosolic
text bound to mitochondria in sperm and fetal tissues, but found in cytoplasm in adult tissues
basic FUNCTION
  • catalyzing the phosphorylation of glycerol to glycerol-3-phosphate
  • key enzyme in the regulation of glycerol uptake and metabolism
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP binding
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GKD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    glycerol kinase-deficient mice, mutant male mice appeared normal at birth, but exhibited postnatal growth retardation, altered fat metabolism with profound hyperglycerolemia and elevated free fatty acids, autonomous glucocorticoid synthesis, and death by 3 to 4 days of age whereas heterozygous females were healthy and biochemically normal