• Gene id: 4817

Gene Summary

• Gene Symbol: NIT1   Gene   UCSC   Ensembl
• Gene name: nitrilase 1
• Alternate names: deaminated glutathione amidase, dGSH amidase,
• Gene location: 1q23.3 (161118091: 161125445)     Exons: 8     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the nitrilase protein family with homology to bacterial and plant nitrilases, enzymes that cleave nitriles and organic amides to the corresponding carboxylic acids plus ammonia. Multiple transcript variants encoding different
• OMIM: 604618

Protein Summary

• Protein general information: Q86X76  
  • Name: Deaminated glutathione amidase (dGSH amidase) (EC 3.5.1.128) (Nitrilase homolog 1)
  • Length: 327  
  • Mass: 35896
  • Tissue specificity: Detected in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MLGFITRPPHRFLSLLCPGLRIPQLSVLCAQPRPRAMAISSSSCELPLVAVCQVTSTPDKQQNFKTCAELVREAA
  RLGACLAFLPEAFDFIARDPAETLHLSEPLGGKLLEEYTQLARECGLWLSLGGFHERGQDWEQTQKIYNCHVLLN
  SKGAVVATYRKTHLCDVEIPGQGPMCESNSTMPGPSLESPVSTPAGKIGLAVCYDMRFPELSLALAQAGAEILTY
  PSAFGSITGPAHWEVLLRARAIETQCYVVAAAQCGRHHEKRASYGHSMVVDPWGTVVARCSEGPGLCLARIDLNY
  LRQLRRHLPVFQHRRPDLYGNLGHPLS

• Structural information:
  • Protein Domains: (46..29-)
    (/note="CN-hydrolase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00054"-)
  • Interpro: IPR003010  IPR036526  IPR001110  
  • Prosite: PS50263 PS01227
  • STRING: ENSP00000356988
• Other Databases: GeneCards:  NIT1  Malacards:  NIT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006807	nitrogen compound metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000257	nitrilase activity	TAS	molecular function
GO:0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0008150	biological_process	ND	biological process

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)