• Gene id: 22934

Gene Summary

• Gene Symbol: RPIA   Gene   UCSC   Ensembl
• Aliases: RPI, RPIAD
• Gene name: ribose 5-phosphate isomerase A
• Alternate names: ribose-5-phosphate isomerase, phosphoriboisomerase, ribose 5-phosphate epimerase,
• Gene location: 2p11.2 (88691672: 88750928)     Exons: 9     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential r
• OMIM: 180430

Protein Summary

• Protein general information: P49247  
  • Name: Ribose 5 phosphate isomerase (EC 5.3.1.6) (Phosphoriboisomerase)
  • Length: 311  
  • Mass: 33269
• Sequence:

  MQRPGPFSTLYGRVLAPLPGRAGGAASGGGGNSWDLPGSHVRLPGRAQSGTRGGAGNTSTSCGDSNSICPAPSTM
  SKAEEAKKLAGRAAVENHVRNNQVLGIGSGSTIVHAVQRIAERVKQENLNLVCIPTSFQARQLILQYGLTLSDLD
  RHPEIDLAIDGADEVDADLNLIKGGGGCLTQEKIVAGYASRFIVIADFRKDSKNLGDQWHKGIPIEVIPMAYVPV
  SRAVSQKFGGVVELRMAVNKAGPVVTDNGNFILDWKFDRVHKWSEVNTAIKMIPGVVDTGLFINMAERVYFGMQD
  GSVNMREKPFC

• Structural information:
  • Interpro: IPR037171  IPR020672  IPR004788  
  • CDD: cd01398
  • STRING: ENSP00000283646
• Other Databases: GeneCards:  RPIA  Malacards:  RPIA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0009052	pentose-phosphate shunt, non-oxidative branch	IBA	biological process
GO:0006014	D-ribose metabolic process	IBA	biological process
GO:0004751	ribose-5-phosphate isomerase activity	IBA	molecular function
GO:0009052	pentose-phosphate shunt, non-oxidative branch	IEA	biological process
GO:0004751	ribose-5-phosphate isomerase activity	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0004751	ribose-5-phosphate isomerase activity	IEA	molecular function
GO:0004751	ribose-5-phosphate isomerase activity	EXP	molecular function
GO:0005829	cytosol	TAS	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006098	pentose-phosphate shunt	IEA	biological process
GO:0009052	pentose-phosphate shunt, non-oxidative branch	IEA	biological process
GO:0019693	ribose phosphate metabolic process	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0004751	ribose-5-phosphate isomerase activity	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0048029	monosaccharide binding	IEA	molecular function
GO:0004751	ribose-5-phosphate isomerase activity	IEA	molecular function
GO:0006098	pentose-phosphate shunt	IEA	biological process
GO:0004751	ribose-5-phosphate isomerase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa00030	Pentose phosphate pathway

Diseases

Associated diseases	References
Ribose 5-phosphate isomerase deficiency	KEGG:H01135
Ribose 5-phosphate isomerase deficiency	KEGG:H01135
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)