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 141 - 150 of 150 in total
DO ID Disease Name Source
DOID:8927 learning disability
DOID:9220 central sleep apnea
DOID:9256 colorectal cancer
DOID:93 language disorder
DOID:9409 diabetes insipidus
DOID:9521 Laron syndrome
DOID:9649 congenital nystagmus
DOID:9650 pathologic nystagmus
DOID:9923 developmental coordination disorder
DOID:9952 acute lymphoblastic leukemia
The Human Phenotype Ontology
Displaying entries 41 - 50 of 135 in total
HPO ID HPO Term
HP:0001250 Seizure
HP:0001251 Ataxia
HP:0001252 Hypotonia
HP:0001256 Intellectual disability, mild
HP:0001260 Dysarthria
HP:0001262 Excessive daytime somnolence
HP:0001263 Global developmental delay
HP:0001270 Motor delay
HP:0001271 Polyneuropathy
HP:0001284 Areflexia
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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Last updated: August 19, 2024