Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	22934
Gene name Gene Name - the full gene name approved by the HGNC.	Ribose 5-phosphate isomerase A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RPIA
Synonyms (NCBI Gene) Gene synonyms aliases	RPI, RPIAD
Disease Acronyms (UniProt) Disease acronyms from UniProt database	RPIAD
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918591	C>T	Pathogenic	Coding sequence variant, missense variant
rs730880316	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1558699183	G>C	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(149)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002559	hsa-miR-373-3p	Microarray	15685193
MIRT001851	hsa-let-7b-5p	Luciferase reporter assay	15131085
MIRT019459	hsa-miR-148b-3p	Microarray	17612493
MIRT002559	hsa-miR-373-3p	Microarray;Other	15685193
MIRT022847	hsa-miR-124-3p	Microarray	18668037
MIRT025226	hsa-miR-34a-5p	Proteomics	21566225
MIRT025226	hsa-miR-34a-5p	Proteomics	21566225
MIRT001851	hsa-let-7b-5p	Reporter assay;Other	15131085
MIRT045816	hsa-miR-191-5p	CLASH	23622248
MIRT044134	hsa-miR-30e-5p	CLASH	23622248
MIRT1315772	hsa-miR-124	CLIP-seq
MIRT1315773	hsa-miR-1271	CLIP-seq
MIRT1315774	hsa-miR-1278	CLIP-seq
MIRT1315775	hsa-miR-182	CLIP-seq
MIRT1315776	hsa-miR-193a-3p	CLIP-seq
MIRT1315777	hsa-miR-193b	CLIP-seq
MIRT1315778	hsa-miR-194	CLIP-seq
MIRT1315779	hsa-miR-198	CLIP-seq
MIRT1315780	hsa-miR-23a	CLIP-seq
MIRT1315781	hsa-miR-23b	CLIP-seq
MIRT1315782	hsa-miR-23c	CLIP-seq
MIRT1315783	hsa-miR-27a	CLIP-seq
MIRT1315784	hsa-miR-27b	CLIP-seq
MIRT1315785	hsa-miR-31	CLIP-seq
MIRT1315786	hsa-miR-3128	CLIP-seq
MIRT1315787	hsa-miR-3185	CLIP-seq
MIRT1315788	hsa-miR-323-3p	CLIP-seq
MIRT1315789	hsa-miR-34a	CLIP-seq
MIRT1315790	hsa-miR-34c-5p	CLIP-seq
MIRT1315791	hsa-miR-361-3p	CLIP-seq
MIRT1315792	hsa-miR-3714	CLIP-seq
MIRT1315793	hsa-miR-382	CLIP-seq
MIRT1315794	hsa-miR-3910	CLIP-seq
MIRT1315795	hsa-miR-3973	CLIP-seq
MIRT1315796	hsa-miR-4256	CLIP-seq
MIRT1315797	hsa-miR-449a	CLIP-seq
MIRT1315798	hsa-miR-449b	CLIP-seq
MIRT1315799	hsa-miR-4514	CLIP-seq
MIRT1315800	hsa-miR-4517	CLIP-seq
MIRT1315801	hsa-miR-4519	CLIP-seq
MIRT1315802	hsa-miR-4530	CLIP-seq
MIRT1315803	hsa-miR-4645-5p	CLIP-seq
MIRT1315804	hsa-miR-4673	CLIP-seq
MIRT1315805	hsa-miR-4692	CLIP-seq
MIRT1315806	hsa-miR-4713-5p	CLIP-seq
MIRT1315807	hsa-miR-4756-3p	CLIP-seq
MIRT1315808	hsa-miR-4766-3p	CLIP-seq
MIRT1315809	hsa-miR-4771	CLIP-seq
MIRT1315810	hsa-miR-4777-3p	CLIP-seq
MIRT1315811	hsa-miR-506	CLIP-seq
MIRT1315812	hsa-miR-513a-5p	CLIP-seq
MIRT1315813	hsa-miR-520f	CLIP-seq
MIRT1315814	hsa-miR-548k	CLIP-seq
MIRT1315815	hsa-miR-548p	CLIP-seq
MIRT1315816	hsa-miR-548t	CLIP-seq
MIRT1315817	hsa-miR-582-5p	CLIP-seq
MIRT1315818	hsa-miR-634	CLIP-seq
MIRT1315819	hsa-miR-892b	CLIP-seq
MIRT1315820	hsa-miR-922	CLIP-seq
MIRT1315821	hsa-miR-96	CLIP-seq
MIRT2093913	hsa-miR-1208	CLIP-seq
MIRT1315772	hsa-miR-124	CLIP-seq
MIRT2093914	hsa-miR-1243	CLIP-seq
MIRT2093915	hsa-miR-1290	CLIP-seq
MIRT2093916	hsa-miR-181a	CLIP-seq
MIRT2093917	hsa-miR-181b	CLIP-seq
MIRT2093918	hsa-miR-181c	CLIP-seq
MIRT2093919	hsa-miR-181d	CLIP-seq
MIRT1315779	hsa-miR-198	CLIP-seq
MIRT2093920	hsa-miR-2115	CLIP-seq
MIRT2093921	hsa-miR-214	CLIP-seq
MIRT2093922	hsa-miR-2277-3p	CLIP-seq
MIRT1315785	hsa-miR-31	CLIP-seq
MIRT2093923	hsa-miR-3167	CLIP-seq
MIRT1315788	hsa-miR-323-3p	CLIP-seq
MIRT2093924	hsa-miR-340	CLIP-seq
MIRT2093925	hsa-miR-3619-5p	CLIP-seq
MIRT2093926	hsa-miR-3660	CLIP-seq
MIRT2093927	hsa-miR-3663-5p	CLIP-seq
MIRT2093928	hsa-miR-3691-3p	CLIP-seq
MIRT1315792	hsa-miR-3714	CLIP-seq
MIRT1315794	hsa-miR-3910	CLIP-seq
MIRT2093929	hsa-miR-4262	CLIP-seq
MIRT2093930	hsa-miR-4328	CLIP-seq
MIRT2093931	hsa-miR-4432	CLIP-seq
MIRT2093932	hsa-miR-4463	CLIP-seq
MIRT1315799	hsa-miR-4514	CLIP-seq
MIRT1315800	hsa-miR-4517	CLIP-seq
MIRT2093933	hsa-miR-452	CLIP-seq
MIRT2093934	hsa-miR-4526	CLIP-seq
MIRT1315802	hsa-miR-4530	CLIP-seq
MIRT1315803	hsa-miR-4645-5p	CLIP-seq
MIRT1315804	hsa-miR-4673	CLIP-seq
MIRT2093935	hsa-miR-4676-3p	CLIP-seq
MIRT1315805	hsa-miR-4692	CLIP-seq
MIRT1315807	hsa-miR-4756-3p	CLIP-seq
MIRT2093936	hsa-miR-4764-3p	CLIP-seq
MIRT1315809	hsa-miR-4771	CLIP-seq
MIRT2093937	hsa-miR-499-5p	CLIP-seq
MIRT1315811	hsa-miR-506	CLIP-seq
MIRT2093938	hsa-miR-516a-3p	CLIP-seq
MIRT2093939	hsa-miR-587	CLIP-seq
MIRT1315818	hsa-miR-634	CLIP-seq
MIRT2093940	hsa-miR-761	CLIP-seq
MIRT2093941	hsa-miR-876-5p	CLIP-seq
MIRT1315820	hsa-miR-922	CLIP-seq
MIRT1315772	hsa-miR-124	CLIP-seq
MIRT1315773	hsa-miR-1271	CLIP-seq
MIRT1315774	hsa-miR-1278	CLIP-seq
MIRT2318415	hsa-miR-145	CLIP-seq
MIRT1315775	hsa-miR-182	CLIP-seq
MIRT1315776	hsa-miR-193a-3p	CLIP-seq
MIRT1315777	hsa-miR-193b	CLIP-seq
MIRT1315780	hsa-miR-23a	CLIP-seq
MIRT1315781	hsa-miR-23b	CLIP-seq
MIRT1315782	hsa-miR-23c	CLIP-seq
MIRT1315783	hsa-miR-27a	CLIP-seq
MIRT1315784	hsa-miR-27b	CLIP-seq
MIRT1315785	hsa-miR-31	CLIP-seq
MIRT1315786	hsa-miR-3128	CLIP-seq
MIRT2318416	hsa-miR-3180-5p	CLIP-seq
MIRT1315789	hsa-miR-34a	CLIP-seq
MIRT1315790	hsa-miR-34c-5p	CLIP-seq
MIRT1315792	hsa-miR-3714	CLIP-seq
MIRT1315794	hsa-miR-3910	CLIP-seq
MIRT1315795	hsa-miR-3973	CLIP-seq
MIRT2318417	hsa-miR-4433	CLIP-seq
MIRT2318418	hsa-miR-4459	CLIP-seq
MIRT1315797	hsa-miR-449a	CLIP-seq
MIRT1315798	hsa-miR-449b	CLIP-seq
MIRT1315801	hsa-miR-4519	CLIP-seq
MIRT1315802	hsa-miR-4530	CLIP-seq
MIRT2318419	hsa-miR-4711-5p	CLIP-seq
MIRT2318420	hsa-miR-4712-5p	CLIP-seq
MIRT2318421	hsa-miR-4768-3p	CLIP-seq
MIRT1315809	hsa-miR-4771	CLIP-seq
MIRT1315810	hsa-miR-4777-3p	CLIP-seq
MIRT1315811	hsa-miR-506	CLIP-seq
MIRT1315812	hsa-miR-513a-5p	CLIP-seq
MIRT1315813	hsa-miR-520f	CLIP-seq
MIRT2318422	hsa-miR-545	CLIP-seq
MIRT1315814	hsa-miR-548k	CLIP-seq
MIRT2318423	hsa-miR-561	CLIP-seq
MIRT1315817	hsa-miR-582-5p	CLIP-seq
MIRT1315818	hsa-miR-634	CLIP-seq
MIRT2318424	hsa-miR-770-5p	CLIP-seq
MIRT1315819	hsa-miR-892b	CLIP-seq
MIRT1315820	hsa-miR-922	CLIP-seq
MIRT1315821	hsa-miR-96	CLIP-seq

Show/Hide all(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004751	Function	Ribose-5-phosphate isomerase activity	EXP	14988808
GO:0004751	Function	Ribose-5-phosphate isomerase activity	IBA	21873635
GO:0004751	Function	Ribose-5-phosphate isomerase activity	NAS	7758956
GO:0005515	Function	Protein binding	IPI	16189514, 21516116, 24722188, 25416956, 25910212, 28514442, 29892012, 31515488, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0006014	Process	D-ribose metabolic process	IBA	21873635
GO:0006098	Process	Pentose-phosphate shunt	TAS
GO:0009052	Process	Pentose-phosphate shunt, non-oxidative branch	IBA	21873635
GO:0019693	Process	Ribose phosphate metabolic process	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 32296183
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0048029	Function	Monosaccharide binding	IEA

MIM	HGNC	e!Ensembl
180430	10297	ENSG00000153574

Protein

UniProt ID

P49247

Protein name

Ribose-5-phosphate isomerase (EC 5.3.1.6) (Phosphoriboisomerase)

Protein function

Catalyzes the reversible conversion of ribose-5-phosphate to ribulose 5-phosphate and participates in the first step of the non-oxidative branch of the pentose phosphate pathway.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06026	Rib_5-P_isom_A	127 → 301	Ribose 5-phosphate isomerase A (phosphoriboisomerase A)	Family

Sequence

MQRPGPFSTLYGRVLAPLPGRAGGAASGGGGNSWDLPGSHVRLPGRAQSGTRGGAGNTST
SCGDSNSICPAPSTMSKAEEAKKLAGRAAVENHVRNNQVLGIGSGSTIVHAVQRIAERVK
QENLNLVCIPTSFQARQLILQYGLTLSDLDRHPEIDLAIDGADEVDADLNLIKGGGGCLT
QEKIVAGYASRFIVIADFRKDSKNLGDQWHKGIPIEVIPMAYVPVSRAVSQKFGGVVELR
MAVNKAGPVVTDNGNFILDWKFDRVHKWSEVNTAIKMIPGVVDTGLFINMAERVYFGMQD
GSVNMREKPFC

Sequence length

311

Interactions

View interactions

	KEGG		Reactome
	Pentose phosphate pathway Metabolic pathways Carbon metabolism Biosynthesis of amino acids		RPIA deficiency: failed conversion of R5P to RU5P RPIA deficiency: failed conversion of RU5P to R5P Pentose phosphate pathway

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Polyneuropathy	Polyneuropathy	rs1597597437

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining
Carcinogenesis	Associate	35887232
Carcinoma Renal Cell	Associate	33564363
Colorectal Neoplasms	Associate	35887232
Endometrial Neoplasms	Associate	30177747
Liver Failure	Associate	35887232
Lung Neoplasms	Stimulate	35887232
Venous Thromboembolism	Stimulate	34861826

RPIA (ribose 5-phosphate isomerase A)