GLS
entrez
2744
canonical
uniprot
O94925
canonical
ensembl
ENSG00000115419
resolver
ensp
ENSP00000317379
resolver
ensp
ENSP00000340689
resolver
ensp
ENSP00000403329
resolver
enst
ENST00000412247
resolver
genesymbol
GLS
resolver
genesymbol_syn
GLS1
resolver
genesymbol_syn
KIAA0838
resolver
hgnc
HGNC:4331
resolver
uniprot
H7C201
resolver
uniprot
Q9UL05
resolver
uniprot
Q9UL06
resolver
uniprot
Q9UL07
resolver
uniprot
Q9UN40
resolver
uniprot_entry
GLSK_HUMAN
resolver
uniprot_entry
H7C201_HUMAN
resolver
uniprot_sec
Q9UL05
resolver
uniprot_sec
Q9UL06
resolver
uniprot_sec
Q9UL07
resolver
uniprot_sec
Q9UN40
resolver
activity_regulation
ACTIVITY REGULATION: Isoform 1 and isoform 3 are activated by phosphate. Inhibited by BPTES. BPTES binds between subunits and favors dissociation of the tetramer into dimers (PubMed:22049910). Inhibited by 6-diazo-5-oxo-L-norleucine (DON) (PubMed:24451979). Enzyme activity is stimulated by phosphorylation (PubMed:22538822). {ECO:0000269|PubMed:22049910, ECO:0000269|PubMed:22538822, ECO:0000269|PubMed:24451979}.
uniprot
proteins
amino_acid_sequence
MMRLRGSGMLRDLLLRSPAGVSATLRRAQPLVTLCRRPRGGGRPAAGPAAAARLHPWWGGGGWPAEPLARGLSSSPSEILQELGKGSTHPQPGVSPPAAPAAPGPKDGPGETDAFGNSEGKELVASGENKIKQGLLPSLEDLLFYTIAEGQEKIPVHKFITALKSTGLRTSDPRLKECMDMLRLTLQTTSDGVMLDKDLFKKCVQSNIVLLTQAFRRKFVIPDFMSFTSHIDELYESAKKQSGGKVADYIPQLAKFSPDLWGVSVCTVDGQRHSTGDTKVPFCLQSCVKPLKYAIAVNDLGTEYVHRYVGKEPSGLRFNKLFLNEDDKPHNPMVNAGAIVVTSLIKQGVNNAEKFDYVMQFLNKMAGNEYVGFSNATFQSERESGDRNFAIGYYLKEKKCFPEGTDMVGILDFYFQLCSIEVTCESASVMAATLANGGFCPITGERVLSPEAVRNTLSLMHSCGMYDFSGQFAFHVGLPAKSGVAGGILLVVPNVMGMMCWSPPLDKMGNSVKGIHFCHDLVSLCNFHNYDNLRHFAKKLDPRREGGDQRVKSVINLLFAAYTGDVSALRRFALSAMDMEQRDYDSRTALHVAAAEGHVEVVKFLLEACKVNPFPKDRWNNTPMDEALHFGHHDVFKILQEYQVQYTPQGDSDNGKENQTVHKNLDGLL
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 71 (DEE71) [MIM:618328]: 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. {ECO:0000269|PubMed:30575854}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: CASGID syndrome (CASGID) [MIM:618339]: 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. {ECO:0000269|PubMed:30239721}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) [MIM:618412]: 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. {ECO:0000269|PubMed:30970188}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.1.2
uniprot
proteins
function
FUNCTION: Catalyzes 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, the main excitatory neurotransmitter in the brain (PubMed:30239721, PubMed:30575854, PubMed:30970188). {ECO:0000269|PubMed:30239721, ECO:0000269|PubMed:30575854, ECO:0000269|PubMed:30970188}.; FUNCTION: [Isoform 2]: Lacks catalytic activity. {ECO:0000269|PubMed:11015561}.
uniprot
proteins
mass_dalton
73461
uniprot
proteins
mutagenesis
MUTAGEN 249; /note="Y->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:24451979"; MUTAGEN 286; /note="S->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:24451979"; MUTAGEN 289; /note="K->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:24451979"; MUTAGEN 318; /note="F->Y: No effect on catalytic activity. Loss of inhibition by BPTES; when associated with S-322."; /evidence="ECO:0000269|PubMed:22049910"; MUTAGEN 321; /note="L->A: Decreased enzyme activity."; /evidence="ECO:0000269|PubMed:22538822"; MUTAGEN 322; /note="F->S: No effect on catalytic activity. Loss of inhibition by BPTES; when associated with Y-318."; /evidence="ECO:0000269|PubMed:22049910"; MUTAGEN 323; /note="L->A: Decreased enzyme activity."; /evidence="ECO:0000269|PubMed:22538822"; MUTAGEN 394; /note="Y->A: Decreased enzyme activity."; /evidence="ECO:0000269|PubMed:22538822"; MUTAGEN 394; /note="Y->L: No effect on catalytic activity. Loss of inhibition by BPTES."; /evidence="ECO:0000269|PubMed:22049910"; MUTAGEN 466; /note="Y->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:24451979
uniprot
proteins
post_translational_modification
PTM: Synthesized as a 74-kDa cytosolic precursor which is proteolytically processed by the mitochondrial-processing peptidase (MPP) via a 72-kDa intermediate to yield the mature mitochondrial 68- and 65-kDa subunits. {ECO:0000250|UniProtKB:P13264}.
uniprot
proteins
protein_family
Glutaminase family
uniprot
proteins
pubmed
10048485
uniprot
proteins
pubmed
10719215
uniprot
proteins
pubmed
11015561
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16899818
uniprot
proteins
pubmed
17940881
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22049910
uniprot
proteins
pubmed
22228304
uniprot
proteins
pubmed
22538822
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24451979
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26988803
uniprot
proteins
pubmed
28526749
uniprot
proteins
pubmed
29317493
uniprot
proteins
pubmed
30239721
uniprot
proteins
pubmed
30575854
uniprot
proteins
pubmed
30970188
uniprot
proteins
sequence_length
669
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion {ECO:0000250|UniProtKB:P13264}. Cytoplasm, cytosol {ECO:0000269|PubMed:22228304}. Note=The 74-kDa cytosolic precursor is translocated into the mitochondria and processed via a 72-kDa intermediate to yield the mature 68- and 65-kDa subunits. {ECO:0000250|UniProtKB:P13264}.; SUBCELLULAR LOCATION: [Isoform 3]: Mitochondrion {ECO:0000269|PubMed:22228304}.; SUBCELLULAR LOCATION: [Glutaminase kidney isoform, mitochondrial 68 kDa chain]: Mitochondrion matrix {ECO:0000250|UniProtKB:P13264}. Note=Produced by the proteolytic processing of the 74-kDa cytosolic precursor. {ECO:0000250|UniProtKB:P13264}.; SUBCELLULAR LOCATION: [Glutaminase kidney isoform, mitochondrial 65 kDa chain]: Mitochondrion matrix {ECO:0000250|UniProtKB:P13264}. Note=Produced by the proteolytic processing of the 74-kDa cytosolic precursor. {ECO:0000250|UniProtKB:P13264}.
uniprot
proteins