PRPS1L1 (phosphoribosyl pyrophosphate synthetase 1 like 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 221823
• Gene name: Phosphoribosyl pyrophosphate synthetase 1 like 1
• Gene symbol: PRPS1L1
• Synonyms (NCBI Gene): PRPS1, PRPS3, PRPSL, PRS-III
• Chromosome: 7
• Chromosome location: 7p21.1
• Summary: This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine,

miRNA Show/Hide all (84)

miRTarBase ID	miRNA	Experiments	Reference
MIRT573879	hsa-miR-376c-3p	PAR-CLIP	20371350
MIRT573878	hsa-miR-3155a	PAR-CLIP	20371350
MIRT573877	hsa-miR-3155b	PAR-CLIP	20371350
MIRT573876	hsa-miR-484	PAR-CLIP	20371350
MIRT573875	hsa-miR-4772-5p	PAR-CLIP	20371350
MIRT573874	hsa-miR-4534	PAR-CLIP	20371350
MIRT573872	hsa-miR-8082	PAR-CLIP	20371350
MIRT573873	hsa-miR-3134	PAR-CLIP	20371350
MIRT573871	hsa-miR-221-3p	PAR-CLIP	20371350
MIRT573870	hsa-miR-222-3p	PAR-CLIP	20371350
MIRT521631	hsa-miR-4459	PAR-CLIP	23446348
MIRT521632	hsa-miR-6087	PAR-CLIP	23446348
MIRT521630	hsa-miR-377-5p	PAR-CLIP	23446348
MIRT521628	hsa-miR-6086	PAR-CLIP	23446348
MIRT521629	hsa-miR-658	PAR-CLIP	23446348
MIRT521627	hsa-miR-25-5p	PAR-CLIP	23446348
MIRT521626	hsa-miR-4497	PAR-CLIP	23446348
MIRT521625	hsa-miR-455-3p	PAR-CLIP	23446348
MIRT521623	hsa-miR-6516-5p	PAR-CLIP	23446348
MIRT443318	hsa-miR-548a-5p	PAR-CLIP	22100165
MIRT443317	hsa-miR-548ab	PAR-CLIP	22100165
MIRT443316	hsa-miR-548ad-5p	PAR-CLIP	22100165
MIRT443315	hsa-miR-548ae-5p	PAR-CLIP	22100165
MIRT443314	hsa-miR-548ak	PAR-CLIP	22100165
MIRT443313	hsa-miR-548am-5p	PAR-CLIP	22100165
MIRT443312	hsa-miR-548ap-5p	PAR-CLIP	22100165
MIRT443311	hsa-miR-548aq-5p	PAR-CLIP	22100165
MIRT443310	hsa-miR-548ar-5p	PAR-CLIP	22100165
MIRT443309	hsa-miR-548as-5p	PAR-CLIP	22100165
MIRT443308	hsa-miR-548au-5p	PAR-CLIP	22100165
MIRT443307	hsa-miR-548ay-5p	PAR-CLIP	22100165
MIRT443306	hsa-miR-548b-5p	PAR-CLIP	22100165
MIRT443305	hsa-miR-548bb-5p	PAR-CLIP	22100165
MIRT443304	hsa-miR-548c-5p	PAR-CLIP	22100165
MIRT443303	hsa-miR-548d-5p	PAR-CLIP	22100165
MIRT443302	hsa-miR-548h-5p	PAR-CLIP	22100165
MIRT443301	hsa-miR-548i	PAR-CLIP	22100165
MIRT443300	hsa-miR-548j-5p	PAR-CLIP	22100165
MIRT443299	hsa-miR-548o-5p	PAR-CLIP	22100165
MIRT443298	hsa-miR-548w	PAR-CLIP	22100165
MIRT443297	hsa-miR-548y	PAR-CLIP	22100165
MIRT443296	hsa-miR-559	PAR-CLIP	22100165
MIRT573879	hsa-miR-376c-3p	PAR-CLIP	20371350
MIRT573878	hsa-miR-3155a	PAR-CLIP	20371350
MIRT573877	hsa-miR-3155b	PAR-CLIP	20371350
MIRT573876	hsa-miR-484	PAR-CLIP	20371350
MIRT573875	hsa-miR-4772-5p	PAR-CLIP	20371350
MIRT573874	hsa-miR-4534	PAR-CLIP	20371350
MIRT573872	hsa-miR-8082	PAR-CLIP	20371350
MIRT573873	hsa-miR-3134	PAR-CLIP	20371350
MIRT573871	hsa-miR-221-3p	PAR-CLIP	20371350
MIRT573870	hsa-miR-222-3p	PAR-CLIP	20371350
MIRT521631	hsa-miR-4459	PAR-CLIP	23446348
MIRT521632	hsa-miR-6087	PAR-CLIP	23446348
MIRT521630	hsa-miR-377-5p	PAR-CLIP	23446348
MIRT521628	hsa-miR-6086	PAR-CLIP	23446348
MIRT521629	hsa-miR-658	PAR-CLIP	23446348
MIRT521627	hsa-miR-25-5p	PAR-CLIP	23446348
MIRT521626	hsa-miR-4497	PAR-CLIP	23446348
MIRT521625	hsa-miR-455-3p	PAR-CLIP	23446348
MIRT521623	hsa-miR-6516-5p	PAR-CLIP	23446348
MIRT443318	hsa-miR-548a-5p	PAR-CLIP	22100165
MIRT443317	hsa-miR-548ab	PAR-CLIP	22100165
MIRT443316	hsa-miR-548ad-5p	PAR-CLIP	22100165
MIRT443315	hsa-miR-548ae-5p	PAR-CLIP	22100165
MIRT443314	hsa-miR-548ak	PAR-CLIP	22100165
MIRT443313	hsa-miR-548am-5p	PAR-CLIP	22100165
MIRT443312	hsa-miR-548ap-5p	PAR-CLIP	22100165
MIRT443311	hsa-miR-548aq-5p	PAR-CLIP	22100165
MIRT443310	hsa-miR-548ar-5p	PAR-CLIP	22100165
MIRT443309	hsa-miR-548as-5p	PAR-CLIP	22100165
MIRT443308	hsa-miR-548au-5p	PAR-CLIP	22100165
MIRT443307	hsa-miR-548ay-5p	PAR-CLIP	22100165
MIRT443306	hsa-miR-548b-5p	PAR-CLIP	22100165
MIRT443305	hsa-miR-548bb-5p	PAR-CLIP	22100165
MIRT443304	hsa-miR-548c-5p	PAR-CLIP	22100165
MIRT443303	hsa-miR-548d-5p	PAR-CLIP	22100165
MIRT443302	hsa-miR-548h-5p	PAR-CLIP	22100165
MIRT443301	hsa-miR-548i	PAR-CLIP	22100165
MIRT443300	hsa-miR-548j-5p	PAR-CLIP	22100165
MIRT443299	hsa-miR-548o-5p	PAR-CLIP	22100165
MIRT443298	hsa-miR-548w	PAR-CLIP	22100165
MIRT443297	hsa-miR-548y	PAR-CLIP	22100165
MIRT443296	hsa-miR-559	PAR-CLIP	22100165

Gene ontology (GO) Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0002189	Component	Ribose phosphate diphosphokinase complex	IBA
GO:0004749	Function	Ribose phosphate diphosphokinase activity	IBA
GO:0004749	Function	Ribose phosphate diphosphokinase activity	IEA
GO:0004749	Function	Ribose phosphate diphosphokinase activity	ISS
GO:0004749	Function	Ribose phosphate diphosphokinase activity	NAS	2168892
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0006015	Process	5-phosphoribose 1-diphosphate biosynthetic process	IBA
GO:0006015	Process	5-phosphoribose 1-diphosphate biosynthetic process	IEA
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0006164	Process	Purine nucleotide biosynthetic process	IBA
GO:0008584	Process	Male gonad development	IEA
GO:0009156	Process	Ribonucleoside monophosphate biosynthetic process	IEA
GO:0009165	Process	Nucleotide biosynthetic process	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 611566
• HGNC: 9463
• e!Ensembl: ENSG00000229937

Protein

• UniProt ID: P21108
• Protein name: Ribose-phosphate pyrophosphokinase 3 (EC 2.7.6.1) (Phosphoribosyl pyrophosphate synthase 1-like 1) (PRPS1-like 1) (Phosphoribosyl pyrophosphate synthase III) (PRS-III)
• Protein function: Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13793	Pribosyltran_N	4 → 120	N-terminal domain of ribose phosphate pyrophosphokinase	Domain
  PF14572	Pribosyl_synth	199 → 314	Phosphoribosyl synthetase-associated domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Testis.
• Sequence:

  MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIDESVRGEDVYIVQSGC
  GEINDSLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRSPISAKLVANMLSIAG
  ADHIITMDLHASQIQGFFDIPVDNLYAEPTVLKWIRENIPEWKNCIIVSPDAGGAKRVTS
  IADQLNVDFALIHKERKKANEVDCIVLVGDVNDRVAILVDDMADTCVTICLAADKLLSAG
  ATRVYAILTHGIFSGPAISRINTACFEAVVVTNTIPQDEKMKHCSKIRVIDISMILAEAI
  RRTHNGESVSYLFSHVPL

• Sequence length: 318

Pathways

KEGG Pathway	Reactome Pathway
Pentose phosphate pathway	5-Phosphoribose 1-diphosphate biosynthesis
Purine metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
GASTRIC CANCER	—	GWAS catalog	33002439	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	33002439	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (126)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15254396		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15254396		★☆☆☆☆ Found in Text Mining only
Arts syndrome	Arts syndrome	Pubtator	17701896, 24961627, 25182139, 25491489, 34803094, 37308732	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15517578		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	31443513	Associate	★☆☆☆☆ Found in Text Mining only
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION	Arts syndrome	UNIPROT_DG	17701896		★☆☆☆☆ Found in Text Mining only
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION	Arts syndrome	BEFREE	23190330, 24961627, 25182139, 25491489, 26089585, 27256512, 31487280		★☆☆☆☆ Found in Text Mining only
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION	Arts syndrome	GENOMICS_ENGLAND_DG	24896178, 27604308, 8498830, 8968763		★☆☆☆☆ Found in Text Mining only
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION	Arts syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION	Arts syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PRPS1 5 shared pathwaysPentose phosphate pathway, Purine metabolism, Carbon metabolism, Biosynthesis of amino acids, 5-Phosphoribose 1-diphosphate biosynthesis Related via 5 shared pathways including Pentose phosphate pathway, Purine metabolism. PRPS2 5 shared pathwaysPentose phosphate pathway, Purine metabolism, Carbon metabolism, Biosynthesis of amino acids, 5-Phosphoribose 1-diphosphate biosynthesis Related via 5 shared pathways including Pentose phosphate pathway, Purine metabolism. TKTL1 3 shared pathwaysPentose phosphate pathway, Carbon metabolism, Biosynthesis of amino acids Related via 3 shared pathways including Pentose phosphate pathway, Carbon metabolism. TKTL2 3 shared pathwaysPentose phosphate pathway, Carbon metabolism, Biosynthesis of amino acids Related via 3 shared pathways including Pentose phosphate pathway, Carbon metabolism. RPE 3 shared pathwaysPentose phosphate pathway, Carbon metabolism, Biosynthesis of amino acids Related via 3 shared pathways including Pentose phosphate pathway, Carbon metabolism.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PRPS1	0	[]	5	["Pentose phosphate pathway","Purine metabolism","Carbon metabolism","Biosynthesis of amino acids","5-Phosphoribose 1-diphosphate biosynthesis"]	0	[]
PRPS2	0	[]	5	["Pentose phosphate pathway","Purine metabolism","Carbon metabolism","Biosynthesis of amino acids","5-Phosphoribose 1-diphosphate biosynthesis"]	0	[]
TKTL1	0	[]	3	["Pentose phosphate pathway","Carbon metabolism","Biosynthesis of amino acids"]	0	[]
TKTL2	0	[]	3	["Pentose phosphate pathway","Carbon metabolism","Biosynthesis of amino acids"]	0	[]
RPE	0	[]	3	["Pentose phosphate pathway","Carbon metabolism","Biosynthesis of amino acids"]	0	[]

Diseases Linked via Similar Genes

Gouty arthritis Linked via 1 of 5 related genesPRPS1 Arts syndrome Linked via 1 of 5 related genesPRPS1 Ataxia with deafness and vision loss Linked via 1 of 5 related genesPRPS1 Charcot-marie-tooth disease Linked via 1 of 5 related genesPRPS1 Charcot-marie-tooth disease, x-linked Linked via 1 of 5 related genesPRPS1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Gouty arthritis	1	["PRPS1"]
Arts syndrome	1	["PRPS1"]
Ataxia with deafness and vision loss	1	["PRPS1"]
Charcot-marie-tooth disease	1	["PRPS1"]
Charcot-marie-tooth disease, x-linked	1	["PRPS1"]