• Gene id: 57494

Gene Summary

• Gene Symbol: RIMKLB   Gene   UCSC   Ensembl
• Aliases: FAM80B, NAAGS, NAAGS-I
• Gene name: ribosomal modification protein rimK like family member B
• Alternate names: beta-citrylglutamate synthase B, N-acetyl-aspartyl-glutamate synthetase B, N-acetyl-aspartylglutamate synthetase B, N-acetylaspartyl-glutamate synthetase B, NAAG synthetase B, beta-citryl-glutamate synthase B, family with sequence similarity 80, member B, riboso,
• Gene location: 12p13.31 (8681599: 8783094)     Exons: 8     NC_000012.12
• OMIM: 614054

Protein Summary

• Protein general information: Q9ULI2  
  • Name: Beta citrylglutamate synthase B (EC 6.3.1.17) (N acetyl aspartylglutamate synthetase B) (NAAG synthetase B) (NAAGS) (EC 6.3.2.41) (Ribosomal protein S6 modification like protein B)
  • Length: 386  
  • Mass: 42464
• Sequence:

  MCSSVAAKLWFLTDRRIREDYPQKEILRALKAKCCEEELDFRAVVMDEVVLTIEQGNLGLRINGELITAYPQVVV
  VRVPTPWVQSDSDITVLRHLEKMGCRLMNRPQAILNCVNKFWTFQELAGHGVPLPDTFSYGGHENFAKMIDEAEV
  LEFPMVVKNTRGHRGKAVFLARDKHHLADLSHLIRHEAPYLFQKYVKESHGRDVRVIVVGGRVVGTMLRCSTDGR
  MQSNCSLGGVGMMCSLSEQGKQLAIQVSNILGMDVCGIDLLMKDDGSFCVCEANANVGFIAFDKACNLDVAGIIA
  DYAASLLPSGRLTRRMSLLSVVSTASETSEPELGPPASTAVDNMSASSSSVDSDPESTERELLTKLPGGLFNMNQ
  LLANEIKLLVD

• Structural information:
  • Protein Domains: (119..30-)
    (/note="ATP-grasp-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00409"-)
  • Interpro: IPR011761  IPR013651  IPR013815  IPR004666  
  • Prosite: PS50975
  • STRING: ENSP00000350136
• Other Databases: GeneCards:  RIMKLB  Malacards:  RIMKLB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072590	N-acetyl-L-aspartate-L-glutamate ligase activity	IBA	molecular function
GO:0016879	ligase activity, forming carbon-nitrogen bonds	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0072590	N-acetyl-L-aspartate-L-glutamate ligase activity	ISS	molecular function
GO:0072591	citrate-L-glutamate ligase activity	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
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:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0072591	citrate-L-glutamate ligase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0072590	N-acetyl-L-aspartate-L-glutamate ligase activity	IEA	molecular function
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
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)