• Gene id: 8836

Gene Summary

• Gene Symbol: GGH   Gene   UCSC   Ensembl
• Aliases: GH
• Gene name: gamma-glutamyl hydrolase
• Alternate names: gamma-glutamyl hydrolase, gamma-Glu-X carboxypeptidase, gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase),
• Gene location: 8q12.3 (4786363: 4785284)     Exons: 3     NC_000017.11
• Gene summary(Entrez): This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008]
• OMIM: 601509

Protein Summary

• Protein general information: Q92820  
  • Name: Gamma glutamyl hydrolase (EC 3.4.19.9) (Conjugase) (GH) (Gamma Glu X carboxypeptidase)
  • Length: 318  
  • Mass: 35964
• Sequence:

  MASPGCLLCVLGLLLCGAASLELSRPHGDTAKKPIIGILMQKCRNKVMKNYGRYYIAASYVKYLESAGARVVPVR
  LDLTEKDYEILFKSINGILFPGGSVDLRRSDYAKVAKIFYNLSIQSFDDGDYFPVWGTCLGFEELSLLISGECLL
  TATDTVDVAMPLNFTGGQLHSRMFQNFPTELLLSLAVEPLTANFHKWSLSVKNFTMNEKLKKFFNVLTTNTDGKI
  EFISTMEGYKYPVYGVQWHPEKAPYEWKNLDGISHAPNAVKTAFYLAEFFVNEARKNNHHFKSESEEEKALIYQF
  SPIYTGNISSFQQCYIFD

• Structural information:
  • Protein Domains: (25..31-)
    (/note="Gamma-glutamyl-hydrolase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00607"-)
  • Interpro: IPR029062  IPR015527  IPR011697  
  • Prosite: PS51275
  • PDB: 1L9X
  • PDBsum: 1L9X
  • STRING: ENSP00000260118
• Other Databases: GeneCards:  GGH  Malacards:  GGH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046900	tetrahydrofolylpolyglutamate metabolic process	IBA	biological process
GO:0034722	gamma-glutamyl-peptidase activity	IBA	molecular function
GO:0005773	vacuole	IBA	cellular component
GO:0034722	gamma-glutamyl-peptidase activity	IDA	molecular function
GO:0008242	omega peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0008238	exopeptidase activity	TAS	molecular function
GO:0008242	omega peptidase activity	TAS	molecular function
GO:0034722	gamma-glutamyl-peptidase activity	IEA	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904724	tertiary granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0035580	specific granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0010043	response to zinc ion	IEA	biological process
GO:0032868	response to insulin	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00790	Folate biosynthesis
hsa01523	Antifolate resistance

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)