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 71 - 80 of 150 in total
DO ID Disease Name Source
DOID:26 pancreas disease
DOID:10003 sensorineural hearing loss
DOID:10554 meningoencephalitis
DOID:10584 retinitis pigmentosa
DOID:1059 intellectual disability
DOID:10595 Charcot-Marie-Tooth disease
DOID:1074 kidney failure
DOID:1142 alternating exotropia
DOID:1143 exotropia
DOID:11771 spontaneous ocular nystagmus
The Human Phenotype Ontology
Displaying entries 81 - 90 of 135 in total
HPO ID HPO Term
HP:0002460 Distal muscle weakness
HP:0002463 Language impairment
HP:0002509 Limb hypertonia
HP:0002522 Areflexia of lower limbs
HP:0002650 Scoliosis
HP:0002719 Recurrent infections
HP:0002721 Immunodeficiency
HP:0002788 Recurrent upper respiratory tract infections
HP:0002808 Kyphosis
HP:0002936 Distal sensory 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

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Acknowledgements

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Last updated: August 19, 2024