phosphoribosyl pyrophosphate synthetase 1

Summary
Gene Symbol
  • PRPS1
Aliases
  • CMTX5
  • DFNX1
  • PPRibP
  • PRS I
  • PRS-I
  • ribose-phosphate diphosphokinase 1
Organism
Homo sapiens (human)
External Links
NCBI Gene
5631
HGNC
9462
KEGG Gene ID
hsa:5631
PubChem
5631
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Alternative splicing
  • Charcot-Marie-Tooth disease
  • Direct protein sequencing
  • Disease variant
  • Gout
  • Intellectual disability
  • Kinase
  • Magnesium
  • Metal-binding
  • Neurodegeneration
  • Non-syndromic deafness
  • Nucleotide biosynthesis
  • Reference proteome
  • Retinitis pigmentosa
Proteins
Displaying all 2 entries
UniProt Protein Name
P60891
  • PPRibP
  • Phosphoribosyl pyrophosphate synthase I
B7ZB02
  • Phosphoribosyl pyrophosphate synthase I
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000147224

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

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

KEGG BRITE Database
Orthology
K00948
Name
ribose-phosphate pyrophosphokinase [EC:2.7.6.1]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 150 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0050539 Charcot-Marie-Tooth disease type 2
DOID:0050542 Charcot-Marie-Tooth disease type X
DOID:0050566 X-linked nonsyndromic deafness
DOID:0050647 Arts syndrome
DOID:0060249 scoliosis
DOID:0060600 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
DOID:0060843 hereditary neuropathy with liability to pressure palsies
DOID:0070161 hereditary sensory and autonomic neuropathy type 2
DOID:0080144 childhood acute lymphocytic leukemia
The Human Phenotype Ontology
Displaying entries 121 - 130 of 135 in total
HPO ID HPO Term
HP:0008527 Congenital sensorineural hearing impairment
HP:0008936 Axial hypotonia
HP:0009830 Peripheral neuropathy
HP:0010536 Central sleep apnea
HP:0011185 EEG with focal epileptiform discharges
HP:0011220 Prominent forehead
HP:0011463 Childhood onset
HP:0011471 Gastrostomy tube feeding in infancy
HP:0011476 Profound sensorineural hearing impairment
HP:0011903 HbH hemoglobin
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
Ortholog
Displaying entry 101 - 101 of 101 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
108317908 CEBIM22164

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024