• Gene id: 64080

Gene Summary

• Gene Symbol: RBKS   Gene   UCSC   Ensembl
• Aliases: RBSK, RK
• Gene name: ribokinase
• Alternate names: ribokinase,
• Gene location: 2p23.2 (27890395: 27781363)     Exons: 9     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple tra
• OMIM: 611132

Protein Summary

• Protein general information: Q9H477  
  • Name: Ribokinase (RK) (EC 2.7.1.15)
  • Length: 322  
  • Mass: 34143
• Sequence:

  MAASGEPQRQWQEEVAAVVVVGSCMTDLVSLTSRLPKTGETIHGHKFFIGFGGKGANQCVQAARLGAMTSMVCKV
  GKDSFGNDYIENLKQNDISTEFTYQTKDAATGTASIIVNNEGQNIIVIVAGANLLLNTEDLRAAANVISRAKVMV
  CQLEITPATSLEALTMARRSGVKTLFNPAPAIADLDPQFYTLSDVFCCNESEAEILTGLTVGSAADAGEAALVLL
  KRGCQVVIITLGAEGCVVLSQTEPEPKHIPTEKVKAVDTTGAGDSFVGALAFYLAYYPNLSLEDMLNRSNFIAAV
  SVQAAGTQSSYPYKKDLPLTLF

• Structural information:
  • Interpro: IPR002173  IPR011877  IPR011611  IPR002139  IPR029056  
  • Prosite: PS00584
  • CDD: cd01174
  • PDB: 2FV7 5BYC 5BYD 5BYE 5BYF 5C3Y 5C3Z 5C40 5C41
  • PDBsum: 2FV7 5BYC 5BYD 5BYE 5BYF 5C3Y 5C3Z 5C40 5C41
  • STRING: ENSP00000306817
• Other Databases: GeneCards:  RBKS  Malacards:  RBKS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004747	ribokinase activity	IEA	molecular function
GO:0004747	ribokinase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006098	pentose-phosphate shunt	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0019303	D-ribose catabolic process	IEA	biological process
GO:0004747	ribokinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0019303	D-ribose catabolic process	IEA	biological process
GO:0006014	D-ribose metabolic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0004747	ribokinase activity	IEA	molecular function
GO:0016773	phosphotransferase activity, alcohol group as acceptor	IEA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00030	Pentose phosphate pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray