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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22934
Gene name	Ribose 5-phosphate isomerase A
Gene symbol	RPIA
Synonyms (NCBI Gene)	RPIRPIAD
Chromosome	2
Chromosome location	2p11.2
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 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

149

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 (20)

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
GO:0004751	Function	Ribose-5-phosphate isomerase activity	IEA
GO:0004751	Function	Ribose-5-phosphate isomerase activity	NAS	7758956
GO:0004751	Function	Ribose-5-phosphate isomerase activity	TAS
GO:0005515	Function	Protein binding	IPI	16189514, 21516116, 24722188, 25416956, 25910212, 28514442, 29892012, 31515488, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006014	Process	D-ribose metabolic process	IBA
GO:0006098	Process	Pentose-phosphate shunt	IEA
GO:0006098	Process	Pentose-phosphate shunt	TAS
GO:0009052	Process	Pentose-phosphate shunt, non-oxidative branch	IBA
GO:0009052	Process	Pentose-phosphate shunt, non-oxidative branch	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 32296183
GO:0048029	Function	Monosaccharide binding	IEA

MIM	HGNC	e!Ensembl
180430	10297	ENSG00000153574

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Deficiency of ribose-5-phosphate isomerase	Likely pathogenic; Pathogenic	rs2104137690, rs760452079, rs730880316, rs121918591, rs1673318855, rs1558699183, rs1399404493, rs1422698928	RCV001806392 RCV002240128 RCV000013881 RCV000013882 RCV003479695 RCV000785983 RCV001193231 RCV001193230 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
METABOLIC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIBOSE-5-P ISOMERASE DEFICIENCY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RPIA-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (38)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	29337987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35887232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33564363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29337987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26248089, 29337987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35887232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	30177747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Enzymopathy	Enzymopathy	BEFREE	20499043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	14988808, 31247379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25429733, 30418535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	35887232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	30418535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35887232	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25429733, 30418535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29337987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	16756963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	14988808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	19555670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16756963, 25429733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	12943231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	14988808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	14988808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ribose 5-Phosphate Isomerase Deficiency	Ribose 5-Phosphate Isomerase Deficiency	UNIPROT_DG	14988808		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ribose 5-Phosphate Isomerase Deficiency	Ribose 5-Phosphate Isomerase Deficiency	ORPHANET_DG	14988808, 20499043		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ribose 5-Phosphate Isomerase Deficiency	Ribose 5-Phosphate Isomerase Deficiency	GENOMICS_ENGLAND_DG	28801340, 30088433		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ribose 5-Phosphate Isomerase Deficiency	Ribose 5-Phosphate Isomerase Deficiency	BEFREE	30088433		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ribose 5-Phosphate Isomerase Deficiency	Ribose 5-Phosphate Isomerase Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ribose 5-Phosphate Isomerase Deficiency	Ribose 5-Phosphate Isomerase Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ribose-5-P isomerase deficiency	Ribose 5-Phosphate Isomerase Deficiency	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	12943231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	34861826	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RPIA (ribose 5-phosphate isomerase A)