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 91 - 100 of 150 in total
DO ID Disease Name Source
DOID:13189 gout
DOID:13579 kwashiorkor
DOID:1389 polyneuropathy
DOID:1393 visual pathway disease
DOID:1432 blindness
DOID:14402 critical illness polyneuropathy
DOID:14555 Foster-Kennedy syndrome
DOID:1612 breast cancer
DOID:162 cancer
DOID:1826 epilepsy
The Human Phenotype Ontology
Displaying entries 101 - 110 of 135 in total
HPO ID HPO Term
HP:0003537 Hypouricemia
HP:0003577 Congenital onset
HP:0003693 Distal amyotrophy
HP:0003712 Skeletal muscle hypertrophy
HP:0003819 Death in childhood
HP:0003828 Variable expressivity
HP:0004322 Short stature
HP:0004639 Elevated amniotic fluid alpha-fetoprotein
HP:0004887 Respiratory failure requiring assisted ventilation
HP:0005280 Depressed nasal bridge
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

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024