Entity Details

Primary name PRPS1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP60891
EntryNamePRPS1_HUMAN
FullNameRibose-phosphate pyrophosphokinase 1
TaxID9606
Evidenceevidence at protein level
Length318
SequenceStatuscomplete
DateCreated2004-04-13
DateModified2021-06-02

Ontological Relatives

GenesPRPS1

GO terms

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GOName
GO:0000287 magnesium ion binding
GO:0002189 ribose phosphate diphosphokinase complex
GO:0004749 ribose phosphate diphosphokinase activity
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process
GO:0006144 purine nucleobase metabolic process
GO:0006164 purine nucleotide biosynthetic process
GO:0006221 pyrimidine nucleotide biosynthetic process
GO:0007399 nervous system development
GO:0009116 nucleoside metabolic process
GO:0009156 ribonucleoside monophosphate biosynthetic process
GO:0016301 kinase activity
GO:0034418 urate biosynthetic process
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046101 hypoxanthine biosynthetic process

Subcellular Location

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Domains

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DomainNameCategoryType
IPR000836 Phosphoribosyltransferase domainDomainDomain
IPR000842 Phosphoribosyl pyrophosphate synthetase, conserved siteSiteConserved site
IPR005946 Ribose-phosphate pyrophosphokinaseFamilyFamily
IPR029057 Phosphoribosyltransferase-likeFamilyHomologous superfamily
IPR029099 Ribose-phosphate pyrophosphokinase, N-terminal domainDomainDomain
IPR037515 Ribose-phosphate pyrophosphokinase, bacterial-typeFamilyFamily

Diseases

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Disease IDSourceNameDescription
301835 OMIMARTS syndrome (ARTS)A disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death. The disease is caused by variants affecting the gene represented in this entry.
311070 OMIMCharcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5)A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. The disease is caused by variants affecting the gene represented in this entry.
304500 OMIMDeafness, X-linked, 1 (DFNX1)A form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss. The disease is caused by variants affecting the gene represented in this entry.
300661 OMIMPhosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. The disease is caused by variants affecting the gene represented in this entry.

Interactions

120 interactions

InteractorPartnerSourcesPublicationsLink
PRPS1_HUMANSPG21_HUMANBioGRID, HPRD, IntAct16189514 25416956 31515488 32296183 details
PRPS1_HUMANGORS2_HUMANBioGRID, HPRD, IntAct16189514 29892012 31515488 32296183 details
PRPS1_HUMANPRPS1_HUMANBioGRID, HPRD, IntAct16189514 25416956 25502805 25910212 31515488 32296183 details
PRPS1_HUMANKPRA_HUMANBioGRID, HPRD, IntAct16189514 25416956 25910212 26186194 26344197 26496610 28514442 31515488 32296183 9366267 details
PRPS1_HUMANPRPS2_HUMANBioGRID, IntAct22939629 25416956 25910212 26186194 26496610 28514442 31515488 32814053 details
PRPS1_HUMANKPRB_HUMANBioGRID, IntAct26186194 26344197 26496610 28514442 32296183 details
PRPS1_HUMANCRYAB_HUMANIntAct32814053 details
PRPS1_HUMANVDAC2_HUMANIntAct32814053 details
PRPS1_HUMANPIMT_HUMANIntAct32814053 details
PRPS1_HUMANM3K5_HUMANIntAct32814053 details
PRPS1_HUMANKHK_HUMANDIP27088854 details
PRPS1_HUMANMECP2_HUMANIntAct32814053 details
PRPS1_HUMANTDG_HUMANIntAct32814053 details
PRPS1_HUMANIL16_HUMANIntAct32814053 details
PRPS1_HUMANPER1_HUMANIntAct32814053 details
PRPS1_HUMANDCAF1_HUMANIntAct32814053 details
PRPS1_HUMANGATA1_HUMANIntAct32814053 details
PRPS1_HUMANNVL_HUMANIntAct32814053 details
PRPS1_HUMANK0408_HUMANIntAct32814053 details
PRPS1_HUMANFANCG_HUMANIntAct32814053 details
PRPS1_HUMANKT33B_HUMANIntAct32814053 details
PRPS1_HUMANDDT4L_HUMANIntAct32296183 details
PRPS1_HUMANFL2D_HUMANIntAct32814053 details
PRPS1_HUMANERCC8_HUMANIntAct32814053 details
PRPS1_HUMANFAHD1_HUMANIntAct32814053 details
PRPS1_HUMANBDNF_HUMANIntAct32814053 details
PRPS1_HUMANZSC9_HUMANIntAct32814053 details
PRPS1_HUMANAQP8_HUMANIntAct32814053 details
PRPS1_HUMANSTAM2_HUMANIntAct32814053 details
PRPS1_HUMANTGM2_HUMANIntAct32814053 details
PRPS1_HUMANZN180_HUMANIntAct32814053 details
PRPS1_HUMANANXA8_HUMANIntAct32814053 details
PRPS1_HUMANFEZ2_HUMANIntAct32814053 details
PRPS1_HUMANMED22_HUMANIntAct32814053 details
PRPS1_HUMANPKHG4_HUMANIntAct32814053 details
PRPS1_HUMANBECN1_HUMANIntAct32814053 details
PRPS1_HUMANUBP2_HUMANIntAct32814053 details
PRPS1_HUMANMAX_HUMANIntAct32814053 details
PRPS1_HUMANPATZ1_HUMANIntAct32814053 details
PRPS1_HUMANKCD15_HUMANIntAct32814053 details
PRPS1_HUMANCDC23_HUMANIntAct32814053 details
PRPS1_HUMANHXK3_HUMANIntAct32814053 details
PRPS1_HUMANSPY4_HUMANIntAct32814053 details
PRPS1_HUMANSPP2B_HUMANIntAct32814053 details
PRPS1_HUMANEIF3F_HUMANIntAct32814053 details
PRPS1_HUMANDVL3_HUMANIntAct32814053 details
PRPS1_HUMANTUT7_HUMANIntAct32814053 details
PRPS1_HUMANWWP2_HUMANIntAct32814053 details
PRPS1_HUMANOTUB1_HUMANIntAct32814053 details
PRPS1_HUMANCRYA2_HUMANIntAct32814053 details
PRPS1_HUMANOTU7B_HUMANIntAct32814053 details
PRPS1_HUMANMALT1_HUMANIntAct32814053 details
PRPS1_HUMANASIC4_HUMANIntAct32814053 details
PRPS1_HUMANTEN1L_HUMANIntAct32814053 details
PRPS1_HUMANTASO2_HUMANIntAct32814053 details
PRPS1_HUMANBATF_HUMANIntAct32814053 details
PRPS1_HUMANZN444_HUMANIntAct32814053 details
PRPS1_HUMANCITE2_HUMANIntAct32814053 details
PRPS1_HUMANWWOX_HUMANIntAct32814053 details
PRPS1_HUMANPGRP3_HUMANIntAct32814053 details
PRPS1_HUMANPLPR1_HUMANIntAct32814053 details
PRPS1_HUMANF16P2_HUMANIntAct32814053 details
PRPS1_HUMANCIA2B_HUMANIntAct32814053 details
PRPS1_HUMANMOFA1_HUMANIntAct32814053 details
PRPS1_HUMANMPND_HUMANIntAct32814053 details
PRPS1_HUMANZKSC8_HUMANIntAct32814053 details
PRPS1_HUMANCRLF3_HUMANIntAct32814053 details
PRPS1_HUMANWDR83_HUMANIntAct32814053 details
PRPS1_HUMANTET5B_HUMANIntAct32814053 details
PRPS1_HUMANZXDC_HUMANIntAct32814053 details
PRPS1_HUMANASB3_HUMANIntAct32814053 details
PRPS1_HUMANZN488_HUMANIntAct32814053 details
PRPS1_HUMANMR1L1_HUMANIntAct32814053 details
PRPS1_HUMANTTC23_HUMANIntAct32814053 details
PRPS1_HUMANARFG3_HUMANIntAct32814053 details
PRPS1_HUMANZN829_HUMANIntAct32814053 details
PRPS1_HUMANSYCE3_HUMANIntAct32814053 details
PRPS1_HUMANSEM4G_HUMANIntAct32814053 details
PRPS1_HUMANMLC1_HUMANIntAct32814053 details
PRPS1_HUMANF117B_HUMANIntAct32814053 details
PRPS1_HUMANIQCF2_HUMANIntAct32814053 details
PRPS1_HUMANRCOR3_HUMANIntAct32814053 details
PRPS1_HUMANMS18B_HUMANIntAct32814053 details
PRPS1_HUMANCCD17_HUMANIntAct32814053 details
PRPS1_HUMANCC141_HUMANIntAct32814053 details
PRPS1_HUMANGFOD1_HUMANIntAct32814053 details
PRPS1_HUMANRAI2_HUMANIntAct32814053 details
PRPS1_HUMANZNF57_HUMANIntAct32814053 details
PRPS1_HUMANZN296_HUMANIntAct32814053 details
PRPS1_HUMANMS18A_HUMANIntAct32814053 details
PRPS1_HUMANRPC6_HUMANIntAct32814053 details
PRPS1_HUMANKIF1B_HUMANIntAct32814053 details
PRPS1_HUMANRN183_HUMANIntAct32814053 details
PRPS1_HUMANPELO_HUMANIntAct32814053 details
PRPS1_HUMANUBAC1_HUMANIntAct32814053 details
PRPS1_HUMANTADBP_HUMANIntAct32814053 details
PRPS1_HUMANWFS1_HUMANIntAct32814053 details
PRPS1_HUMANKLF3_HUMANIntAct32814053 details
PRPS1_HUMANLENG8_HUMANIntAct32814053 details
PRPS1_HUMANKLH20_HUMANIntAct32814053 details
PRPS1_HUMANA4_HUMANIntAct32814053 details
PRPS1_HUMANSPAG8_HUMANIntAct32814053 details
PRPS1_HUMANKKCC1_HUMANIntAct32814053 details
PRPS1_HUMANUB2E3_HUMANIntAct32814053 details
PRPS1_HUMANASCL4_HUMANIntAct32814053 details
PRPS1_HUMANPHF5A_HUMANIntAct32814053 details
PRPS1_HUMANBACD1_HUMANIntAct32814053 details
PRPS1_HUMANTMTC1_HUMANIntAct32814053 details
PRPS1_HUMANSPRE2_HUMANIntAct32814053 details
PRPS1_HUMANVSX2_HUMANIntAct32814053 details
PRPS1_HUMANZN366_HUMANIntAct32814053 details
PRPS1_HUMANZN497_HUMANIntAct32814053 details
PRPS1_HUMANCH048_HUMANIntAct32814053 details
PRPS1_HUMANMET27_HUMANIntAct32814053 details
PRPS1_HUMANSAMD3_HUMANIntAct32814053 details
PRPS1_HUMANVP37A_HUMANIntAct32814053 details
PRPS1_HUMANCG031_HUMANIntAct32814053 details
PRPS1_HUMANPRKN_HUMANBioGRID22792159 32929329 details
PRPS1_HUMANATOH1_HUMANBioGRID27542412 details
PRPS1_HUMANSUMO4_HUMANHPRD16236267 details