Entity Details

Primary name GLSK_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO94925
EntryNameGLSK_HUMAN
FullNameGlutaminase kidney isoform, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length669
SequenceStatuscomplete
DateCreated2001-01-24
DateModified2021-06-02

Ontological Relatives

GenesGLS

GO terms

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GOName
GO:0001967 suckling behavior
GO:0002087 regulation of respiratory gaseous exchange by nervous system process
GO:0004359 glutaminase activity
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0006537 glutamate biosynthetic process
GO:0006543 glutamine catabolic process
GO:0006836 neurotransmitter transport
GO:0007268 chemical synaptic transmission
GO:0009064 glutamine family amino acid metabolic process
GO:0045202 synapse
GO:0051289 protein homotetramerization
GO:0090461 glutamate homeostasis

Subcellular Location

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Subcellular Location
Cytoplasm
Mitochondrion
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR002110 Ankyrin repeatRepeatRepeat
IPR012338 Beta-lactamase/transpeptidase-likeFamilyHomologous superfamily
IPR015868 GlutaminaseFamilyFamily
IPR020683 Ankyrin repeat-containing domainDomainDomain
IPR036770 Ankyrin repeat-containing domain superfamilyFamilyHomologous superfamily
IPR041541 Glutaminase, EF-hand domainDomainDomain

Diseases

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Disease IDSourceNameDescription
618328 OMIMDevelopmental and epileptic encephalopathy 71 (DEE71)A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE71 is an autosomal recessive form with onset at birth. Death occurs in first weeks of life. The disease is caused by variants affecting the gene represented in this entry.
618339 OMIMInfantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development (CASGID)An autosomal dominant disease characterized by infantile-onset cataract, erythematic subcutaneous nodules, profound developmental delay, self-injurious behavior, and intracerebral glutamate excess. Histopathologic analysis of skin lesions show deep perivascular and periglandular lymphohistiocytic infiltrates and pronounced leukocytoclasia at the surface of the dermis, focal vacuolar alterations, hyperkeratosis, and parakeratosis of the epidermis. The disease is caused by variants affecting the gene represented in this entry.
618412 OMIMGlobal developmental delay, progressive ataxia, and elevated glutamine (GDPAG)An autosomal recessive disease characterized by early-onset delay in motor skills, delayed speech, progressive ataxia, and neurologic deterioration. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00130 L-GlutamineDrugbanksmall molecule
DB00142 Glutamic acidDrugbanksmall molecule
DB09374 Indocyanine green acid formSwissprotsmall molecule
DB13155 EsculinDrugbanksmall molecule