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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64080
Gene name	Ribokinase
Gene symbol	RBKS
Synonyms (NCBI Gene)	RBSKRK
Chromosome	2
Chromosome location	2p23.2
Summary	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

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miRTarBase ID	miRNA	Experiments
MIRT1294326	hsa-miR-105	CLIP-seq
MIRT1294327	hsa-miR-1302	CLIP-seq
MIRT1294328	hsa-miR-19a	CLIP-seq
MIRT1294329	hsa-miR-19b	CLIP-seq
MIRT1294330	hsa-miR-2052	CLIP-seq
MIRT1294331	hsa-miR-2113	CLIP-seq
MIRT1294332	hsa-miR-3122	CLIP-seq
MIRT1294333	hsa-miR-3199	CLIP-seq
MIRT1294334	hsa-miR-323b-5p	CLIP-seq
MIRT1294335	hsa-miR-3913-5p	CLIP-seq
MIRT1294336	hsa-miR-4298	CLIP-seq
MIRT1294337	hsa-miR-4662a-5p	CLIP-seq
MIRT1294338	hsa-miR-4676-5p	CLIP-seq
MIRT1294339	hsa-miR-4691-3p	CLIP-seq
MIRT1294340	hsa-miR-575	CLIP-seq
MIRT1294341	hsa-miR-665	CLIP-seq
MIRT1294326	hsa-miR-105	CLIP-seq
MIRT1294328	hsa-miR-19a	CLIP-seq
MIRT1294329	hsa-miR-19b	CLIP-seq
MIRT1294330	hsa-miR-2052	CLIP-seq
MIRT1294331	hsa-miR-2113	CLIP-seq
MIRT1294334	hsa-miR-323b-5p	CLIP-seq
MIRT1294326	hsa-miR-105	CLIP-seq
MIRT1294328	hsa-miR-19a	CLIP-seq
MIRT1294329	hsa-miR-19b	CLIP-seq
MIRT1294330	hsa-miR-2052	CLIP-seq
MIRT1294331	hsa-miR-2113	CLIP-seq
MIRT1294334	hsa-miR-323b-5p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004747	Function	Ribokinase activity	IBA
GO:0004747	Function	Ribokinase activity	IEA
GO:0004747	Function	Ribokinase activity	TAS
GO:0005515	Function	Protein binding	IPI	21044950, 28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006014	Process	D-ribose metabolic process	IEA
GO:0006098	Process	Pentose-phosphate shunt	IEA
GO:0006098	Process	Pentose-phosphate shunt	TAS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019303	Process	D-ribose catabolic process	IEA
GO:0042802	Function	Identical protein binding	IPI	31515488, 32296183
GO:0046835	Process	Carbohydrate phosphorylation	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
611132	30325	ENSG00000171174

Q9H477

Protein name

Ribokinase (RK) (EC 2.7.1.15)

Protein function

Catalyzes the phosphorylation of ribose at O-5 in a reaction requiring ATP and magnesium. The resulting D-ribose-5-phosphate can then be used either for sythesis of nucleotides, histidine, and tryptophan, or as a component of the pentose phospha

PDB

2FV7 , 5BYC , 5BYD , 5BYE , 5BYF , 5C3Y , 5C3Z , 5C40 , 5C41 , 6WJZ , 6WK0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00294	PfkB	15 → 314	pfkB family carbohydrate kinase	Family

Sequence

MAASGEPQRQWQEEVAAVVVVGSCMTDLVSLTSRLPKTGETIHGHKFFIGFGGKGANQCV
QAARLGAMTSMVCKVGKDSFGNDYIENLKQNDISTEFTYQTKDAATGTASIIVNNEGQNI
IVIVAGANLLLNTEDLRAAANVISRAKVMVCQLEITPATSLEALTMARRSGVKTLFNPAP
AIADLDPQFYTLSDVFCCNESEAEILTGLTVGSAADAGEAALVLLKRGCQVVIITLGAEG
CVVLSQTEPEPKHIPTEKVKAVDTTGAGDSFVGALAFYLAYYPNLSLEDMLNRSNFIAAV
SVQAAGTQSSYPYKKDLPLTLF

Sequence length

322

Interactions

View interactions

	KEGG		Reactome
	Pentose phosphate pathway Metabolic pathways		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 Unknown Diseases (10)

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.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	36464806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	36464806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28991256, 30285260		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	38158702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RBKS (ribokinase)