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MGP001234

UniProt Annotations

Entry Information
Gene Nameglutaminase
Protein EntryGLSK_HUMAN
UniProt IDO94925
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=KGA; IsoId=O94925-1; Sequence=Displayed; Name=2; Synonyms=GAM; IsoId=O94925-2; Sequence=VSP_001765, VSP_001766; Name=3; Synonyms=Glutaminase C, GAC; IsoId=O94925-3; Sequence=VSP_001767;
Biophysicochemical PropertiesKinetic parameters: KM=1.9 mM for glutamine (isoform 1) {ECO:0000269|PubMed:22049910}; KM=1.4 mM for glutamine (isoform 3) {ECO:0000269|PubMed:22049910};
Catalytic ActivityL-glutamine + H(2)O = L-glutamate + NH(3). {ECO:0000269|PubMed:22049910}.
CautionA report observed N-glycosylation at Asn-620 (PubMed:19139490). However, as the protein is mitochondrial, additional evidences are required to confirm this result. {ECO:0000305|PubMed:19139490}.
CautionIsoform 3 is predicted to be expressed at very low levels due to a premature stop codon in the mRNA, leading to nonsense- mediated mRNA decay (PubMed:14759258), but has been shown to be well expressed (PubMed:17940881 and PubMed:11015561) and the encoded protein is detected in mitochondria (PubMed:22228304). {ECO:0000305|PubMed:14759258, ECO:0000305|PubMed:22228304}.
Enzyme RegulationIsoform 1 and isoform 3 are activated by phosphate. Inhibited by BPTES. BPTES binds between subunits and favors dissociation of the tetramer into dimers. {ECO:0000269|PubMed:22049910}.
FunctionCatalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate in the brain. Isoform 2 lacks catalytic activity.
Sequence CautionSequence=BAA74861.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the glutaminase family. {ECO:0000305}.
SimilarityContains 2 ANK repeats. {ECO:0000305}.
Subcellular LocationIsoform 1: Cytoplasm, cytosol.
Subcellular LocationIsoform 3: Mitochondrion.
SubunitHeterotetramer. Interacts with ATCAY; the interaction is direct and may control GLS localization, negatively regulating its activity. {ECO:0000269|PubMed:16899818, ECO:0000269|PubMed:22049910, ECO:0000269|Ref.15}.
Tissue SpecificityIsoform 1 and isoform 3 are detected in brain cortex. Isoform 3 is highly expressed in astrocytoma, ganglioglioma and ependymoma. Isoform 1 is highly expressed in brain and kidney, but not detected in liver. Isoform 3 is highly expressed in heart and pancreas, detected at lower levels in placenta, lung, pancreas and kidney, but is not detected in liver. Isoform 2 is expressed in cardiac and skeletal muscle. {ECO:0000269|PubMed:11015561}.
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