PRPS1

Protein identityUniProt · HPA

UniProt accession

P60891

Gene

PRPS1

Ensembl

ENSG00000147224

Chromosome

X

Canonical length

318 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Vesicles

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

Canonical amino-acid sequenceUniProt

318 residues, UniProt reviewed canonical sequence.

>P60891|PRPS1
     1  MPNIKIFSGS SHQDLSQKIA DRLGLELGKV VTKKFSNQET CVEIGESVRG EDVYIVQSGC
    61  GEINDNLMEL LIMINACKIA SASRVTAVIP CFPYARQDKK DKSRAPISAK LVANMLSVAG
   121  ADHIITMDLH ASQIQGFFDI PVDNLYAEPA VLKWIRENIS EWRNCTIVSP DAGGAKRVTS
   181  IADRLNVDFA LIHKERKKAN EVDRMVLVGD VKDRVAILVD DMADTCGTIC HAADKLLSAG
   241  ATRVYAILTH GIFSGPAISR INNACFEAVV VTNTIPQEDK MKHCSKIQVI DISMILAEAI
   301  RRTHNGESVS YLFSHVPL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRPS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

94 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRPS1.

Disease | AllUniProt

Conditions PRPS1 is implicated in, by any mechanism.

• Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) MIM:300661
• Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) MIM:311070
• ARTS syndrome (ARTS) MIM:301835
• Deafness, X-linked, 1 (DFNX1) MIM:304500

Disease | GeneticClinVar

44 pathogenic / likely-pathogenic of 429 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Phosphoribosylpyrophosphate synthetase superactivity
• Charcot-Marie-Tooth Neuropathy X
• Hearing loss, X-linked 1
• Arts syndrome
• Charcot-Marie-Tooth disease X-linked recessive 5

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.38

gnomAD pLI

0.92

gnomAD missense Z

3.73

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• 5-phosphoribose 1-diphosphate biosynthetic process
• nervous system development
• purine nucleobase metabolic process
• purine nucleotide biosynthetic process
• pyrimidine nucleotide biosynthetic process
• ribonucleoside monophosphate biosynthetic process
• urate biosynthetic process
• hypoxanthine biosynthetic process

Molecular functions

• ATP binding
• identical protein binding
• kinase activity
• magnesium ion binding
• protein homodimerization activity
• ribose phosphate diphosphokinase activity

Cellular components

• cytoplasm
• cytosol
• ribose phosphate diphosphokinase complex

Protein domainsUniProt · Pfam · InterPro

• Phosphoribosyltransferase domain
• Phosphoribosyl pyrophosphate synthetase, conserved site
• Ribose-phosphate pyrophosphokinase
• Phosphoribosyltransferase-like
• Ribose-phosphate pyrophosphokinase, N-terminal domain
• Ribose-phosphate pyrophosphokinase, bacterial-type
• N-terminal domain of ribose phosphate pyrophosphokinase
• Phosphoribosyl synthetase-associated domain

KeywordsUniProt

• ATP-binding
• Charcot-Marie-Tooth disease
• Deafness
• Gout
• Intellectual disability
• Kinase
• Magnesium
• Metal-binding
• Neurodegeneration
• Neuropathy
• Non-syndromic deafness
• Nucleotide biosynthesis
• Nucleotide-binding
• Retinitis pigmentosa
• Transferase

InteractionsUniProt · HPA

Protein binding partners of PRPS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GORASP2
• PRPS1L1
• PRPS2
• PRPSAP1
• PRPSAP2