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 **41 - 50** of **150** in total

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DO ID	Disease Name	Source
DOID:0110183	Charcot-Marie-Tooth disease type 4C	DisGeNET
DOID:0110184	Charcot-Marie-Tooth disease type 4J	DisGeNET
DOID:0110185	Charcot-Marie-Tooth disease type 4A	DisGeNET
DOID:0110186	Charcot-Marie-Tooth disease type 4D	DisGeNET
DOID:0110187	Charcot-Marie-Tooth disease type 4K	DisGeNET
DOID:0110190	Charcot-Marie-Tooth disease type 4B2	DisGeNET
DOID:0110191	Charcot-Marie-Tooth disease type 4B1	DisGeNET
DOID:0110192	Charcot-Marie-Tooth disease type 4H	DisGeNET
DOID:0110193	Charcot-Marie-Tooth disease type 4F	DisGeNET
DOID:0110194	Charcot-Marie-Tooth disease type 4B3	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of **135** in total

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HPO ID	HPO Term
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000083	Renal insufficiency
HP:0000154	Wide mouth
HP:0000218	High palate
HP:0000268	Dolichocephaly
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000325	Triangular face
HP:0000365	Hearing impairment

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 **1 - 10** of **101** in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	176016	WB:WBGene00020107
Drosophila melanogaster	39132	FB:FBgn0036030
Callorhinchus milii	103177083		CALMI01322
Latimeria chalumnae	102365931		LATCH09778
Danio rerio	140620	ZFIN:ZDB-GENE-011212-5	DANRE35525
Danio rerio	560827	ZFIN:ZDB-GENE-030131-4011	DANRE06575
Astyanax mexicanus	103031347		ASTMX10717
Astyanax mexicanus	103045742		ASTMX01151
Ictalurus punctatus	108269253		ICTPU33645
Ictalurus punctatus	128629352		ICTPU33645

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements