Details for: PRPS1

Gene ID: 5631

Symbol: PRPS1

Ensembl ID: ENSG00000147224

Description: phosphoribosyl pyrophosphate synthetase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 66.7330
    Cell Significance Index: -10.3800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 58.9607
    Cell Significance Index: -14.9600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 53.5019
    Cell Significance Index: -22.0400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 44.0608
    Cell Significance Index: -17.9000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 42.6584
    Cell Significance Index: -20.1400
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 29.9394
    Cell Significance Index: -20.0900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 18.9580
    Cell Significance Index: -18.1000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.4345
    Cell Significance Index: -19.0300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.2418
    Cell Significance Index: -16.1000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.2229
    Cell Significance Index: -20.6100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.9741
    Cell Significance Index: -13.3300
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.9198
    Cell Significance Index: 30.8000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.2720
    Cell Significance Index: 27.0900
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.0824
    Cell Significance Index: 11.5000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0627
    Cell Significance Index: 105.1200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0411
    Cell Significance Index: 169.3300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7258
    Cell Significance Index: 655.3600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6313
    Cell Significance Index: 68.6700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6260
    Cell Significance Index: 37.5800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.6135
    Cell Significance Index: 72.3600
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.5656
    Cell Significance Index: 10.0000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.4927
    Cell Significance Index: 14.4700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4450
    Cell Significance Index: 28.7100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.4369
    Cell Significance Index: 22.9400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.4259
    Cell Significance Index: 12.2100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.3724
    Cell Significance Index: 12.9400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.2790
    Cell Significance Index: 5.8400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2769
    Cell Significance Index: 99.3200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2750
    Cell Significance Index: 19.0200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2455
    Cell Significance Index: 33.7100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2138
    Cell Significance Index: 42.8900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2025
    Cell Significance Index: 38.5500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1755
    Cell Significance Index: 11.0600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1665
    Cell Significance Index: 90.9200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1608
    Cell Significance Index: 19.7700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1602
    Cell Significance Index: 7.4700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.1582
    Cell Significance Index: 1.7200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1429
    Cell Significance Index: 25.7600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1405
    Cell Significance Index: 62.1100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1278
    Cell Significance Index: 16.3800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1250
    Cell Significance Index: 24.8200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0981
    Cell Significance Index: 2.5800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0754
    Cell Significance Index: 12.8700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0596
    Cell Significance Index: 7.7000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0370
    Cell Significance Index: 1.7400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0258
    Cell Significance Index: 0.6900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0166
    Cell Significance Index: 0.8600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0136
    Cell Significance Index: 0.3700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0115
    Cell Significance Index: 0.8100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0062
    Cell Significance Index: 11.6700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0003
    Cell Significance Index: -0.2200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0005
    Cell Significance Index: -0.4100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0065
    Cell Significance Index: -11.9300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0091
    Cell Significance Index: -13.9800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0094
    Cell Significance Index: -0.7000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0106
    Cell Significance Index: -6.6300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0127
    Cell Significance Index: -9.3200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0136
    Cell Significance Index: -8.6300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0143
    Cell Significance Index: -8.0700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0160
    Cell Significance Index: -21.7500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0163
    Cell Significance Index: -1.6700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0342
    Cell Significance Index: -1.2000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0361
    Cell Significance Index: -16.3800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0431
    Cell Significance Index: -9.0800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0462
    Cell Significance Index: -13.2900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0568
    Cell Significance Index: -8.2600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0594
    Cell Significance Index: -3.6500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0672
    Cell Significance Index: -1.6800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0740
    Cell Significance Index: -8.6300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0850
    Cell Significance Index: -4.4300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0859
    Cell Significance Index: -2.7500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0923
    Cell Significance Index: -10.5700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1104
    Cell Significance Index: -2.8200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1274
    Cell Significance Index: -3.6700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1289
    Cell Significance Index: -8.6700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1364
    Cell Significance Index: -3.6600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1514
    Cell Significance Index: -17.2800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1579
    Cell Significance Index: -9.6800
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1638
    Cell Significance Index: -1.1100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1678
    Cell Significance Index: -3.4800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1680
    Cell Significance Index: -3.6400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1857
    Cell Significance Index: -2.1100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1903
    Cell Significance Index: -19.8100
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.1944
    Cell Significance Index: -2.4900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1975
    Cell Significance Index: -8.9500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2028
    Cell Significance Index: -16.0600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2118
    Cell Significance Index: -3.6300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2289
    Cell Significance Index: -3.8300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2309
    Cell Significance Index: -6.5900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2365
    Cell Significance Index: -6.6100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2383
    Cell Significance Index: -18.2900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2433
    Cell Significance Index: -2.9000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2500
    Cell Significance Index: -14.0300
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.2706
    Cell Significance Index: -4.1100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3236
    Cell Significance Index: -3.3500
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.3500
    Cell Significance Index: -2.9400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.3507
    Cell Significance Index: -8.4100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.3544
    Cell Significance Index: -2.8300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3762
    Cell Significance Index: -16.6400
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.4262
    Cell Significance Index: -6.1200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** PRPS1 is a cytosolic enzyme that catalyzes the conversion of PRPP to ribose-5-phosphate, a crucial step in the PPP and purine nucleotide biosynthesis. The enzyme exhibits high substrate specificity, with a preference for PRPP over other ribose-5-phosphate analogs. PRPS1 is a homodimer, composed of two identical subunits, which enables it to efficiently catalyze the reaction. The enzyme is also characterized by its ability to bind magnesium ions and ATP, which are essential cofactors for its activity. **Pathways and Functions:** PRPS1 is involved in several key metabolic pathways, including: 1. **Pentose Phosphate Pathway (PPP):** PRPS1 is a crucial enzyme in the PPP, which generates NADPH and pentoses for nucleotide synthesis, glycolysis, and lipid metabolism. 2. **Purine Nucleotide Biosynthesis:** PRPS1 is required for the synthesis of purine nucleotides, which are essential components of DNA and RNA. 3. **Ribose Phosphate Diphosphokinase Activity:** PRPS1 exhibits ribose phosphate diphosphokinase activity, which is involved in the regulation of glycolysis and glycolytic intermediates. PRPS1 also plays a role in regulating cellular energy metabolism, maintaining cellular homeostasis, and modulating immune responses. The enzyme is highly expressed in immune cells, including plasmablasts, large pre-B-II cells, and oogonial cells, suggesting its involvement in immune function and development. **Clinical Significance:** Dysregulation of PRPS1 has been implicated in various diseases, including: 1. **Anemia:** Mutations in PRPS1 have been associated with anemia, a condition characterized by reduced red blood cell production. 2. **Immune Deficiencies:** PRPS1 deficiency has been linked to impaired immune function, including reduced antibody production and defective T-cell development. 3. **Cancer:** PRPS1 has been implicated in cancer development and progression, particularly in hematological malignancies. In conclusion, PRPS1 is a critical enzyme involved in cellular metabolism, immune function, and disease development. Further research is needed to fully elucidate the functions of PRPS1 and its role in various diseases.

Genular Protein ID: 2135148338

Symbol: PRPS1_HUMAN

Name: PPRibP

UniProtKB Accession Codes:

P60891 B1ALA8 B2R6T7 B4DNL6 D3DUX6 P09329

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EC 1 EMBL 10 EMDB 17 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 17 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 25 PDBsum 25 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 2 SABIO-RK 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2155397

Title: Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA.

PubMed ID: 2155397

DOI: 10.1093/nar/18.1.193

PubMed ID: 1650777

Title: Complete nucleotide sequence of human phosphoribosyl pyrophosphate synthetase subunit I (PRS I) cDNA and a comparison with human and rat PRPS gene families.

PubMed ID: 1650777

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1314091

Title: Promoter regions of the human X-linked housekeeping genes PRPS1 and PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and II isoforms.

PubMed ID: 1314091

DOI: 10.1016/0167-4781(92)90521-z

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 16939420

Title: Crystal structure of human phosphoribosylpyrophosphate synthetase 1 reveals a novel allosteric site.

PubMed ID: 16939420

DOI: 10.1042/bj20061066

PubMed ID: 7593598

Title: The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

PubMed ID: 7593598

DOI: 10.1172/jci118267

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17701896

Title: Arts syndrome is caused by loss-of-function mutations in PRPS1.

PubMed ID: 17701896

DOI: 10.1086/520706

PubMed ID: 17701900

Title: Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

PubMed ID: 17701900

DOI: 10.1086/519529

PubMed ID: 20021999

Title: Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

PubMed ID: 20021999

DOI: 10.1016/j.ajhg.2009.11.015

PubMed ID: 22246954

Title: Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.

PubMed ID: 22246954

DOI: 10.1002/ajmg.a.34428

PubMed ID: 25491489

Title: Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

PubMed ID: 25491489

DOI: 10.1186/s13023-014-0190-9

Sequence Information:

  • Length: 318
  • Mass: 34834
  • Checksum: 46D017E969908BA0
  • Sequence:
    • MPNIKIFSGS SHQDLSQKIA DRLGLELGKV VTKKFSNQET CVEIGESVRG EDVYIVQSGC 
GEINDNLMEL LIMINACKIA SASRVTAVIP CFPYARQDKK DKSRAPISAK LVANMLSVAG 
ADHIITMDLH ASQIQGFFDI PVDNLYAEPA VLKWIRENIS EWRNCTIVSP DAGGAKRVTS 
IADRLNVDFA LIHKERKKAN EVDRMVLVGD VKDRVAILVD DMADTCGTIC HAADKLLSAG 
ATRVYAILTH GIFSGPAISR INNACFEAVV VTNTIPQEDK MKHCSKIQVI DISMILAEAI 
RRTHNGESVS YLFSHVPL

Genular Protein ID: 1687109405

Symbol: B7ZB02_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7ZB02

Database IDs:

ARBA 4 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 8 Gene3D 1 HOGENOM 1 InterPro 3 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 RefSeq 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

Sequence Information:

  • Length: 114
  • Mass: 12324
  • Checksum: A2BA69EDAB8EF6B9
  • Sequence:
    • MVLVGDVKDR VAILVDDMAD TCGTICHAAD KLLSAGATRV YAILTHGIFS GPAISRINNA 
CFEAVVVTNT IPQEDKMKHC SKIQVIDISM ILAEAIRRTH NGESVSYLFS HVPL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.