• Gene id: 2746

Gene Summary

• Gene Symbol: GLUD1   Gene   UCSC   Ensembl
• Aliases: GDH, GDH1, GLUD
• Gene name: glutamate dehydrogenase 1
• Alternate names: glutamate dehydrogenase 1, mitochondrial, epididymis secretory sperm binding protein, epididymis tissue sperm binding protein Li 18mP, glutamate dehydrogenase (NAD(P)+),
• Gene location: 10q23.2 (87094842: 87050201)     Exons: 18     NC_000010.11
• Gene summary(Entrez): This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretio
• OMIM: 138130

Protein Summary

• Protein general information: P00367  
  • Name: Glutamate dehydrogenase 1, mitochondrial (GDH 1) (EC 1.4.1.3)
  • Length: 558  
  • Mass: 61398
• Sequence:

  MYRYLGEALLLSRAGPAALGSASADSAALLGWARGQPAAAPQPGLALAARRHYSEAVADREDDPNFFKMVEGFFD
  RGASIVEDKLVEDLRTRESEEQKRNRVRGILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGGI
  RYSTDVSVDEVKALASLMTYKCAVVDVPFGGAKAGVKINPKNYTDNELEKITRRFTMELAKKGFIGPGIDVPAPD
  MSTGEREMSWIADTYASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFG
  DKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESDGSIWNPDGIDPKELEDFKLQHGSILGFPKAKPYEGSILEAD
  CDILIPAASEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLERNIMVIPDLYLNAGGVTVSYFEWLKNLNHVS
  YGRLTFKYERDSNYHLLMSVQESLERKFGKHGGTIPIVPTAEFQDRISGASEKDIVHSGLAYTMERSARQIMRTA
  MKYNLGLDLRTAAYVNAIEKVFKVYNEAGVTFT

• Structural information:
  • Interpro: IPR006095  IPR033524  IPR006096  IPR006097  IPR036291   IPR033922  
  • Prosite: PS00074
  • CDD: cd01076
  • PDB: 1L1F 1NR1 6DQG
  • PDBsum: 1L1F 1NR1 6DQG
  • STRING: ENSP00000277865
• Other Databases: GeneCards:  GLUD1  Malacards:  GLUD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004352	glutamate dehydrogenase (NAD+) activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0006538	glutamate catabolic process	IBA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0072350	tricarboxylic acid metabolic process	ISS	biological process
GO:0006541	glutamine metabolic process	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006520	cellular amino acid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016639	oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004353	glutamate dehydrogenase [NAD(P)+] activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0004352	glutamate dehydrogenase (NAD+) activity	IDA	molecular function
GO:0004353	glutamate dehydrogenase [NAD(P)+] activity	IDA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0043531	ADP binding	IDA	molecular function
GO:0070403	NAD+ binding	IDA	molecular function
GO:0070728	leucine binding	IDA	molecular function
GO:0042802	identical protein binding	TAS	molecular function
GO:0006537	glutamate biosynthetic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0006538	glutamate catabolic process	IDA	biological process
GO:0032024	positive regulation of insulin secretion	IMP	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0004352	glutamate dehydrogenase (NAD+) activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0021762	substantia nigra development	HEP	biological process
GO:0006538	glutamate catabolic process	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04217	Necroptosis
hsa01200	Carbon metabolism
hsa00250	Alanine, aspartate and glutamate metabolism
hsa04964	Proximal tubule bicarbonate reclamation
hsa00910	Nitrogen metabolism
hsa00220	Arginine biosynthesis
hsa00471	D-Glutamine and D-glutamate metabolism

Diseases

Associated diseases	References
Secondary hyperammonemia	KEGG:H01400
Secondary hyperammonemia	KEGG:H01400
Familial hyperinsulinemic hypoglycemia	KEGG:H01267
Alzheimer's disease	PMID:16298240
Alzheimer's disease	PMID:16341942
Hyperinsulinism	PMID:10636977
hypoglycemia	PMID:10636977
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)