QuickView for PRPS1;jsessionid=40F8AF1766DC5EB78A41DCA4FBD1EACC (gene)
- Gene Symbol:
- PRPS1
Homo sapiens - Full name:
- phosphoribosyl pyrophosphate synthetase 1
- Synonyms:
- ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI, ribose-phosphate pyrophosphokinase 1, dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1), deafness 2, perceptive, congenital, deafness, X-linked 2, perceptive, congenital, phosphoribosyl pyrophosphate synthase I, ribose-phosphate diphosphokinase 1
- Genomic Location:
- Chr X: 106758415-106780912
- Description:
-
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 S...
- Orthologs:
- Mus musculus , Rattus norvegicus , C. elegans , Saccharomyces cerevisiae , Gallus gallus , Pan troglodytes , Canis lupus familiaris , Bos taurus , Danio rerio
- External Links:
- Entrez Gene
- Transcription Factor
Binding Sites: -
NFMUE1_Q6 , TFIIA_Q6 , USF_Q6 , ARNT_01 , E2F1_Q4_01 , MYCMAX_03 , CACGTG_MYC_Q2 , E2F4DP1_01 , MAX_01 , E2F_01
- miRNA binding sites
(Source: TargetScan):
- Cytogenetic Map:
-
Xq22.3
GO Molecular Function
ribose phosphate diphosphokinase activity | cation binding | magnesium ion binding | ribonucleotide binding | nucleotide binding | carbohydrate derivative binding | catalytic activity | ATP binding | anion binding | adenyl nucleotide binding | purine nucleotide binding | identical protein binding | ion binding | organic cyclic compound binding | purine ribonucleoside triphosphate binding | protein binding | protein homodimerization activity | protein dimerization activity | transferase activity, transferring phosphorus-containing groups | transferase activity | purine ribonucleotide binding | adenyl ribonucleotide binding | drug binding | kinase activity | metal ion binding | heterocyclic compound binding | small molecule binding
GO Biological Process
hypoxanthine biosynthetic process | urate biosynthetic process | nervous system development | cellular process | nucleotide metabolic process | ribose phosphate metabolic process | purine nucleotide biosynthetic process | organic cyclic compound metabolic process | cellular aromatic compound metabolic process | purine nucleotide metabolic process | 5-phosphoribose 1-diphosphate biosynthetic process | pyrimidine nucleotide metabolic process | cellular nitrogen compound biosynthetic process | purine nucleobase biosynthetic process | cellular nitrogen compound metabolic process | carbohydrate derivative biosynthetic process | cellular biosynthetic process | urate metabolic process | nucleotide biosynthetic process | system development | nitrogen compound metabolic process | multicellular organism development | phosphorus metabolic process | ribonucleoside monophosphate biosynthetic process | organophosphate metabolic process | nucleoside metabolic process | pigment biosynthetic process | small molecule metabolic process | pyrimidine nucleotide biosynthetic process | nucleobase-containing small molecule metabolic process | biosynthetic process | aromatic compound biosynthetic process | phosphorylation | phosphate-containing compound metabolic process | anatomical structure development | metabolic process | nucleobase-containing compound metabolic process | organic substance metabolic process | pigment metabolic process | hypoxanthine metabolic process | ribose phosphate biosynthetic process | organic acid metabolic process | kinase activity | developmental process | purine nucleobase metabolic process | carbohydrate derivative metabolic process | heterocycle metabolic process | cellular metabolic process | nucleoside monophosphate biosynthetic process | multicellular organismal process
GO Cellular Component
catalytic complex | cell | ribose phosphate diphosphokinase complex | cytoplasm | protein-containing complex | transferase complex | cytosol | intracellular
