RPIA - ribose 5-phosphate isomerase A Gene

Homo sapiens

Also known as RPI; RPIAD

Gene ID: 22934 | Gene type: protein coding

About RPIA

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:88,691,673-88,750,929 (from NCBI)

This gene has 1 transcript (splice variant), 215 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 30.3), placenta (RPKM 17.7) and 25 other tissues.

Summary

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 role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]

RPIA Products(1)

mRNA	Protein	Name
NM_144563.3	NP_653164.2	ribose-5-phosphate isomerase

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables ribose-5-phosphate isomerase activity	EXP EXP: Inferred from Experiment	14988808	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RPIA Protein Structure

Rib_5-P_isom_A

0
100
200
311 a.a.

Protein Preferred Names

Protein Names

ribose-5-phosphate isomerase

phosphoriboisomerase

RPIA Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RPIA	P49247	CENPP	Homo sapiens	Q6IPU0	Validated Y2H	32296183
Intra	RPIA	P49247	CENPP	Homo sapiens	Q6IPU0	Y2H Array	32296183
Intra	RPIA	P49247	CENPP	Homo sapiens	Q6IPU0	Y2H Prey Pooling	25416956
Intra	RPIA	P49247	CENPP	Homo sapiens	Q6IPU0	Y2H Prey Pooling	32296183
Intra	RPIA	P49247	FOXP2	Homo sapiens	Q75MZ5	Y2H Prey Pooling	25416956
Intra	RPIA	P49247	ATPAF2	Homo sapiens	Q8N5M1	Validated Y2H	32296183
Intra	RPIA	P49247	ATPAF2	Homo sapiens	Q8N5M1	Y2H Array	25416956
Intra	RPIA	P49247	ATPAF2	Homo sapiens	Q8N5M1	Y2H Array	32296183
Intra	RPIA	P49247	ATPAF2	Homo sapiens	Q8N5M1	Y2H Prey Pooling	25416956
Intra	RPIA	P49247	ATPAF2	Homo sapiens	Q8N5M1	Y2H Prey Pooling	32296183
Intra	RPIA	P49247	TXN2	Homo sapiens	Q99757	Validated Y2H	25416956
Intra	RPIA	P49247	TXN2	Homo sapiens	Q99757	Validated Y2H	32296183
Intra	RPIA	P49247	PTPN11	Homo sapiens	Q06124	Y2H	21516116
Intra	RPIA	P49247	PTPN11	Homo sapiens	Q06124	Y2H Prey Pooling	25416956
Intra	RPIA	P49247	PTPN11	Homo sapiens	Q06124	Validated Y2H	25416956
Intra	RPIA	P49247	PCMT1	Homo sapiens	P22061	Validated Y2H	25416956
Intra	RPIA	P49247	C14orf119	Homo sapiens	Q9NWQ9	Validated Y2H	32296183
Intra	RPIA	P49247	HSPB8	Homo sapiens	Q9UJY1	Y2H Prey Pooling	32296183
Intra	RPIA	P49247	HSPB8	Homo sapiens	Q9UJY1	Validated Y2H	32296183
Intra	RPIA	P49247	HSPB8	Homo sapiens	Q9UJY1	Y2H Array	32296183
Intra	RPIA	P49247	GORASP2	Homo sapiens	Q9H8Y8	Validated Y2H	32296183
Intra	RPIA	P49247	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	25416956
Intra	RPIA	P49247	GORASP2	Homo sapiens	Q9H8Y8	Y2H	21516116
Intra	RPIA	P49247	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	29892012
Intra	RPIA	P49247	GORASP2	Homo sapiens	Q9H8Y8	Y2H Prey Pooling	25416956
Intra	RPIA	P49247	LNX1	Homo sapiens	Q8TBB1	Y2H Array	29892012
Intra	RPIA	P49247	LNX1	Homo sapiens	Q8TBB1	Y2H Pooling	16189514
Intra	RPIA	P49247	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	RPIA	P49247	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	25416956
Intra	RPIA	P49247	NTAQ1	Homo sapiens	Q96HA8	Y2H Pooling	16189514
Intra	RPIA	P49247	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	31515488
Intra	RPIA	P49247	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
Intra	RPIA	P49247	DDIT4L	Homo sapiens	Q96D03	Validated Y2H	32296183
Intra	RPIA	P49247	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183
Intra	RPIA	P49247	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	RPIA	P49247	STK16	Homo sapiens	O75716	Y2H Prey Pooling	25416956
Intra	RPIA	P49247	STK16	Homo sapiens	O75716	Y2H Array	25416956
Intra	RPIA	P49247	RNF208	Homo sapiens	Q9H0X6	Validated Y2H	25416956
Intra	RPIA	P49247	RNF208	Homo sapiens	Q9H0X6	Y2H Array	25416956
Intra	RPIA	P49247	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Ribose 5-Phosphate Isomerase Deficiency

RPIAD	Deficiency Of Ribose-5-Phosphate Isomerase
Ribose-5-P Isomerase Deficiency	Ribose-5-Phosphate Isomerase Deficiency

Glutathione Synthetase Deficiency

5-Oxoprolinuria	Pyroglutamic Aciduria
Pyroglutamicaciduria	Glutathione Synthetase Deficiency With 5-Oxoprolinuria
GSSD	Oxoprolinase Deficiency
5-Oxoprolinemia	Deficiency Of Glutathione Synthase
Deficiency Of Glutathione Synthetase	Pyroglutamic Acidemia
GSS DEFICIENCY	Gluthathione Synthetase Deficiency
5-Oxoprolinase Deficiency

Fumarase Deficiency

Fumaric Aciduria	FMRD
Fumarate Hydratase Deficiency	Deficiency, Fumarase

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12159	RPIA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RPIA	VGNC	VGNC:34107
Felis catus	RPIA	VGNC	VGNC:64736
Macaca mulatta	RPIA	VGNC	VGNC:76921
Mus musculus	RPIA	MGD	MGI:103254
Rattus norvegicus	RPIA	RGD	RGD:1311377

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