GlyCosmos Portal

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
kinase activity	IEA
magnesium ion binding	IEA
protein homodimerization activity	IPI	16939420
ATP binding	IBA IDA	16939420
protein binding	IPI	16189514 25416956 25910212 26496610 28514442 29892012 31515488 32296183 32814053

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

kinase activity

diphosphotransferase activity [inference]

ribose phosphate diphosphokinase activity

binding [inference]

protein binding

identical protein binding

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

cation binding [inference]

metal ion binding [inference]

magnesium ion binding

organic cyclic compound binding [inference]

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000147224

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00948

Name

ribose-phosphate pyrophosphokinase [EC:2.7.6.1]

References

Rhea

RHEA:15609

ATP + D-ribose 5-phosphate

H⁺ + AMP + 5-phospho-α-D-ribose 1-diphosphate

Enzyme

2.7.6.1

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of **150** in total

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DO ID	Disease Name	Source
DOID:0014667	disease of metabolism	DisGeNET
DOID:0050539	Charcot-Marie-Tooth disease type 2	DisGeNET DisGeNET
DOID:0050542	Charcot-Marie-Tooth disease type X	DisGeNET
DOID:0050566	X-linked nonsyndromic deafness	DisGeNET DisGeNET
DOID:0050647	Arts syndrome	DisGeNET Alliance of Genome Resources
DOID:0060249	scoliosis	DisGeNET
DOID:0060600	obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum	DisGeNET
DOID:0060843	hereditary neuropathy with liability to pressure palsies	DisGeNET
DOID:0070161	hereditary sensory and autonomic neuropathy type 2	DisGeNET
DOID:0080144	childhood acute lymphocytic leukemia	DisGeNET

The Human Phenotype Ontology

Displaying entries **11 - 20** of **135** in total

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HPO ID	HPO Term
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000430	Underdeveloped nasal alae
HP:0000444	Convex nasal ridge
HP:0000467	Neck muscle weakness
HP:0000478	Abnormality of the eye
HP:0000486	Strabismus
HP:0000490	Deeply set eye
HP:0000494	Downslanted palpebral fissures
HP:0000501	Glaucoma

Displaying **all 9** entries
Disease ID	Disease Name
ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
OMIM:311070	Charcot-Marie-Tooth disease X-linked recessive 5
ORPHA:411543	severe phosphoribosylpyrophosphate synthetase superactivity
OMIM:301835	Arts syndrome
OMIM:304500	hearing loss, X-linked 1
ORPHA:1187	Arts syndrome
ORPHA:411536	mild phosphoribosylpyrophosphate synthetase superactivity
OMIM:300661	phosphoribosylpyrophosphate synthetase superactivity
ORPHA:99014	Charcot-Marie-Tooth disease X-linked recessive 5

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **11 - 20** of **101** in total

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Species	Gene ID	Orthologous MAtrix
Electrophorus electricus	113568088	ELEEL15560
Electrophorus electricus	113574179	ELEEL15560
Salmo salar	100195336	SALSA31811
Salmo salar	106567858	SALSA31811
Salmo salar	106604323	SALSA124598
Salmo salar	106612209	SALSA124598
Salmo trutta	115148987	SALTR104494
Salmo trutta	115154449	SALTR104494
Salmo trutta	115167895	SALTR44102
Salmo trutta	115205660	SALTR110383

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements