• Gene id: 2752

Gene Summary

• Gene Symbol: GLUL   Gene   UCSC   Ensembl
• Aliases: GLNS, GS, PIG43, PIG59
• Gene name: glutamate-ammonia ligase
• Alternate names: glutamine synthetase, cell proliferation-inducing protein 59, glutamate decarboxylase, glutamine synthase, palmitoyltransferase GLUL, proliferation-inducing protein 43,
• Gene location: 1q25.3 (182392205: 182378092)     Exons: 9     NC_000001.11
• Gene summary(Entrez): 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 home
• OMIM: 138290

Protein Summary

• Protein general information: P15104  
  • Name: Glutamine synthetase (GS) (EC 6.3.1.2) (Glutamate ammonia ligase) (Palmitoyltransferase GLUL) (EC 2.3.1.225)
  • Length: 373  
  • Mass: 42064
  • Tissue specificity: Expressed in endothelial cells. {ECO
• Sequence:

  MTTSASSHLNKGIKQVYMSLPQGEKVQAMYIWIDGTGEGLRCKTRTLDSEPKCVEELPEWNFDGSSTLQSEGSNS
  DMYLVPAAMFRDPFRKDPNKLVLCEVFKYNRRPAETNLRHTCKRIMDMVSNQHPWFGMEQEYTLMGTDGHPFGWP
  SNGFPGPQGPYYCGVGADRAYGRDIVEAHYRACLYAGVKIAGTNAEVMPAQWEFQIGPCEGISMGDHLWVARFIL
  HRVCEDFGVIATFDPKPIPGNWNGAGCHTNFSTKAMREENGLKYIEEAIEKLSKRHQYHIRAYDPKGGLDNARRL
  TGFHETSNINDFSAGVANRSASIRIPRTVGQEKKGYFEDRRPSANCDPFSVTEALIRTCLLNETGDEPFQYKN

• Structural information:
  • Interpro: IPR008147  IPR036651  IPR014746  IPR008146  IPR027303   IPR027302  
  • Prosite: PS00180 PS00181
  • PDB: 2OJW 2QC8
  • PDBsum: 2OJW 2QC8
  • DIP: 308
  • STRING: ENSP00000307900
• Other Databases: GeneCards:  GLUL  Malacards:  GLUL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006542	glutamine biosynthetic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004356	glutamate-ammonia ligase activity	IBA	molecular function
GO:0008283	cell population proliferation	IDA	biological process
GO:0019706	protein-cysteine S-palmitoyltransferase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0018345	protein palmitoylation	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0010594	regulation of endothelial cell migration	IDA	biological process
GO:1903670	regulation of sprouting angiogenesis	IDA	biological process
GO:0004356	glutamate-ammonia ligase activity	IDA	molecular function
GO:1904749	regulation of protein localization to nucleolus	IMP	biological process
GO:0042254	ribosome biogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006542	glutamine biosynthetic process	IEA	biological process
GO:0006807	nitrogen compound metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004356	glutamate-ammonia ligase activity	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0019706	protein-cysteine S-palmitoyltransferase activity	IEA	molecular function
GO:0004356	glutamate-ammonia ligase activity	IEA	molecular function
GO:0001504	neurotransmitter uptake	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1903670	regulation of sprouting angiogenesis	IEA	biological process
GO:0010594	regulation of endothelial cell migration	IEA	biological process
GO:0009267	cellular response to starvation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0043679	axon terminus	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0032024	positive regulation of insulin secretion	IEA	biological process
GO:0019676	ammonia assimilation cycle	IEA	biological process
GO:0006536	glutamate metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004356	glutamate-ammonia ligase activity	IEA	molecular function
GO:0097386	glial cell projection	IEA	cellular component
GO:0044297	cell body	IEA	cellular component
GO:0009749	response to glucose	IEA	biological process
GO:0051968	positive regulation of synaptic transmission, glutamatergic	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0045503	dynein light chain binding	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043209	myelin sheath	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0030145	manganese ion binding	IEA	molecular function
GO:0016595	glutamate binding	IEA	molecular function
GO:0006542	glutamine biosynthetic process	IEA	biological process
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0006542	glutamine biosynthetic process	TAS	biological process
GO:0006538	glutamate catabolic process	TAS	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04217	Necroptosis
hsa04724	Glutamatergic synapse
hsa04727	GABAergic synapse
hsa01230	Biosynthesis of amino acids
hsa00250	Alanine, aspartate and glutamate metabolism
hsa00630	Glyoxylate and dicarboxylate metabolism
hsa00910	Nitrogen metabolism
hsa00220	Arginine biosynthesis

Diseases

Associated diseases	References
Secondary hyperammonemia	KEGG:H01400
Congenital systemic glutamine deficiency	KEGG:H00923
Secondary hyperammonemia	KEGG:H01400
Congenital systemic glutamine deficiency	KEGG:H00923
Alzheimer's disease	PMID:1361232
Alzheimer's disease	PMID:12160938
Huntington's disease	PMID:3159462
Huntington's disease	PMID:6237280
Temporal lobe epilepsy	PMID:14723991
Schizophrenia	PMID:18562176
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq