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MGP001217

UniProt Annotations

Entry Information
Gene Nameglycerol kinase
Protein EntryGLPK_HUMAN
UniProt IDP32189
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=3; IsoId=P32189-3; Sequence=Displayed; Name=1; IsoId=P32189-1; Sequence=VSP_000770, VSP_000771; Name=2; IsoId=P32189-2; Sequence=VSP_000770; Name=4; IsoId=P32189-4; Sequence=VSP_000771; Note=No experimental confirmation available.;
Catalytic ActivityATP + glycerol = ADP + sn-glycerol 3- phosphate.
DiseaseGlycerol kinase deficiency (GKD) [MIM:307030]: A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine. {ECO:0000269|PubMed:10736265, ECO:0000269|PubMed:8651297, ECO:0000269|PubMed:9719371}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionKey enzyme in the regulation of glycerol uptake and metabolism.
InteractionP22736:NR4A1; NbExp=3; IntAct=EBI-3926629, EBI-721550;
PathwayPolyol metabolism; glycerol degradation via glycerol kinase pathway; sn-glycerol 3-phosphate from glycerol: step 1/1.
Sequence CautionSequence=CAA48346.1; Type=Frameshift; Positions=201, 210, 459; Evidence={ECO:0000305};
SimilarityBelongs to the FGGY kinase family. {ECO:0000305}.
Subcellular LocationMitochondrion 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.
Tissue SpecificityHighly 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.
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