PRPS1L1 (phosphoribosyl pyrophosphate synthetase 1 like 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 221823
Gene name Phosphoribosyl pyrophosphate synthetase 1 like 1
Gene symbol PRPS1L1
Synonyms (NCBI Gene)
PRPS1PRPS3PRPSLPRS-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 miRNA information provided by mirtarbase database.
84
Gene SNPs Other IDs Associated diseases
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene SNPs Other IDs Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
611566 9463 ENSG00000229937
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 318
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene SNPs Other IDs 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)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GASTRIC CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (126)
Associations from Text Mining Disease associations identified through text mining
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