• Gene id: 284716

Gene Summary

• Gene Symbol: RIMKLA   Gene   UCSC   Ensembl
• Aliases: FAM80A, NAAGS, NAAGS-II
• Gene name: ribosomal modification protein rimK like family member A
• Alternate names: N-acetylaspartylglutamate synthase A, N-acetylaspartyl-glutamate synthetase A, N-acetylaspartylglutamate synthetase II, N-acetylaspartylglutamylglutamate synthase A, NAAG synthetase A, RP11-157D18.1, family with sequence similarity 80, member A, ribosomal protei,
• Gene location: 1p34.2 (42380791: 42425812)     Exons: 5     NC_000001.11
• OMIM: 615051

Protein Summary

• Protein general information: Q8IXN7  
  • Name: N acetylaspartylglutamate synthase A (NAAG synthetase A) (NAAGS) (EC 6.3.2.41) (N acetylaspartylglutamylglutamate synthase A) (EC 6.3.2.42) (Ribosomal protein S6 modification like protein A)
  • Length: 391  
  • Mass: 42864
• Sequence:

  MCSQLWFLTDRRIREDYPQVQILRALRQRCSEQDVRFRAVLMDQIAVTIVGGHLGLQLNQKALTTFPDVVLVRVP
  TPSVQSDSDITVLRHLEKLGCRLVNRPQSILNCINKFWTFQELAGHGVPMPDTFSYGGHEDFSKMIDEAEPLGYP
  VVVKSTRGHRGKAVFLARDKHHLSDICHLIRHDVPYLFQKYVKESHGKDIRVVVVGGQVIGSMLRCSTDGRMQSN
  CSLGGVGVKCPLTEQGKQLAIQVSNILGMDFCGIDLLIMDDGSFVVCEANANVGFLAFDQACNLDVGGIIADYTM
  SLLPNRQTGKMAVLPGLSSPREKNEPDGCASAQGVAESVYTINSGSTSSESEPELGEIRDSSASTMGAPPSMLPE
  PGYNINNRIASELKLK

• Structural information:
  • Protein Domains: (115..30-)
    (/note="ATP-grasp-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00409"-)
  • Interpro: IPR011761  IPR013651  IPR013815  IPR004666  
  • Prosite: PS50975
  • STRING: ENSP00000414330
• Other Databases: GeneCards:  RIMKLA  Malacards:  RIMKLA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0016879	ligase activity, forming carbon-nitrogen bonds	IBA	molecular function
GO:0072590	N-acetyl-L-aspartate-L-glutamate ligase activity	IBA	molecular function
GO:0072590	N-acetyl-L-aspartate-L-glutamate ligase activity	ISS	molecular function
GO:0006464	cellular protein modification process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0072590	N-acetyl-L-aspartate-L-glutamate ligase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0016879	ligase activity, forming carbon-nitrogen bonds	IBA	molecular function
GO:0072590	N-acetyl-L-aspartate-L-glutamate ligase activity	IBA	molecular function
GO:0072590	N-acetyl-L-aspartate-L-glutamate ligase activity	ISS	molecular function
GO:0006464	cellular protein modification process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0072590	N-acetyl-L-aspartate-L-glutamate ligase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00250	Alanine, aspartate and glutamate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq