Free for academic non-profit institutions. Other users need a Commercial license
The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
GLUL (Glutamate-Ammonia Ligase) is a Protein Coding gene. Diseases associated with GLUL include Glutamine Deficiency, Congenital and Hepatocellular Carcinoma. Among its related pathways are Transmission across Chemical Synapses and Glyoxylate and dicarboxylate metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and manganese ion binding. An important paralog of this gene is LGSN.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000287 | magnesium ion binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004356 | glutamate-ammonia ligase activity | IDA | 30158707 |
GO:0005515 | protein binding | IPI | 21994455 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
GO:0005739 | mitochondrion | IEA,IDA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005791 | rough endoplasmic reticulum | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
|
|
2 | Astrocytic Glutamate-Glutamine Uptake And Metabolism | ||
3 | Transmission across Chemical Synapses |
.62
|
|
4 | glutamine biosynthesis | ||
5 | Glucose / Energy Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001504 | neurotransmitter uptake | TAS | -- |
GO:0001525 | angiogenesis | IEA | -- |
GO:0006536 | glutamate metabolic process | IEA | -- |
GO:0006538 | glutamate catabolic process | TAS | 21757002 |
GO:0006542 | glutamine biosynthetic process | TAS | 21757002 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Methionine | Approved | Nutra | Enzyme, inhibitor | 118 | ||
Ammonia | Approved | Pharma | Enzyme, substrate | 0 | ||
Ceftriaxone | Approved | Pharma | Enzyme, inducer | 166 | ||
Diazoxide | Approved | Pharma | Activator, Enzyme, inhibitor | 29 | ||
Glutamic acid | Approved | Nutra | Agonist, Full agonist, Target | 304 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 | |||
Phosphate |
|
14066-19-4, 14265-44-2 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP16: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP18: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP19: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP20: | - | - |
ExUns: | 13c | · | 13d | · | 13e | · | 13f | ^ | 14a | · | 14b | · | 14c | ^ | 15a | · | 15b | · | 15c | · | 15d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||
SP2: | - | - | |||||||||||||||||||
SP3: | - | - | |||||||||||||||||||
SP4: | - | - | |||||||||||||||||||
SP5: | - | - | |||||||||||||||||||
SP6: | |||||||||||||||||||||
SP7: | |||||||||||||||||||||
SP8: | - | - | |||||||||||||||||||
SP9: | - | - | - | ||||||||||||||||||
SP10: | - | - | |||||||||||||||||||
SP11: | |||||||||||||||||||||
SP12: | |||||||||||||||||||||
SP13: | |||||||||||||||||||||
SP14: | |||||||||||||||||||||
SP15: | - | - | |||||||||||||||||||
SP16: | |||||||||||||||||||||
SP17: | - | - | |||||||||||||||||||
SP18: | |||||||||||||||||||||
SP19: | |||||||||||||||||||||
SP20: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GLUL 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GLUL 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GLUL 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | GLUL 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GLUL 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Glul 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Glul 30 |
|
||
Chicken (Gallus gallus) |
Aves | GLUL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GLUL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | glul 30 |
|
||
LOC394904 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | glul-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | glula 31 |
|
OneToMany | |
glulb 30 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11265 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Gs2 31 32 |
|
OneToMany | |
Gs1 30 31 32 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008988 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | Y105C5B.28 32 |
|
|
|
F26D10.10 32 |
|
|
|||
gln-1 30 31 |
|
OneToMany | |||
gln-3 31 |
|
OneToMany | |||
qrs-1 32 |
|
|
|||
qrs-2 32 |
|
|
|||
gln-5 31 |
|
OneToMany | |||
C28D4.3 32 |
|
|
|||
gln-6 31 |
|
OneToMany | |||
gln-2 31 |
|
OneToMany | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACR182C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GLN1 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E06293g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | GSR2 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.1208 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.3518 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0223400 30 |
|
||
Os.7879 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.331 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.24508 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.45 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.392 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU06724 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | gln1 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
724171 | Likely Benign: Congenital brain dysgenesis due to glutamine synthetase deficiency | 182,386,365(-) | G/A | SYNONYMOUS_VARIANT | |
725537 | Likely Benign: not provided | 182,384,646(-) | A/C | MISSENSE_VARIANT | |
746488 | Likely Benign: not provided | 182,385,485(-) | C/T | SYNONYMOUS_VARIANT | |
764870 | Likely Benign: not provided | 182,385,376(-) | G/T | SYNONYMOUS_VARIANT | |
789699 | Benign: Congenital brain dysgenesis due to glutamine synthetase deficiency | 182,385,392(-) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
glutamine deficiency, congenital |
|
|
hepatocellular carcinoma |
|
|
hepatic encephalopathy |
|
|
hepatocellular adenoma |
|
|
liver benign neoplasm |
|
|