PPAT
gene geneOn this page
Also known as GPATPRAT
Summary
PPAT (phosphoribosyl pyrophosphate amidotransferase, HGNC:9238) is a protein-coding gene on chromosome 4q12, encoding Amidophosphoribosyltransferase (Q06203). Catalyzes the formation of phosphoribosylamine from phosphoribosylpyrophosphate (PRPP) and glutamine. It is a selective cancer dependency (DepMap: 52.1% of cell lines).
The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region.
Source: NCBI Gene 5471 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 39 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 52.1% of screened cell lines
- MANE Select transcript:
NM_002703
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9238 |
| Approved symbol | PPAT |
| Name | phosphoribosyl pyrophosphate amidotransferase |
| Location | 4q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GPAT, PRAT |
| Ensembl gene | ENSG00000128059 |
| Ensembl biotype | protein_coding |
| OMIM | 172450 |
| Entrez | 5471 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 3 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000264220, ENST00000425339, ENST00000507648, ENST00000507724, ENST00000510643, ENST00000913491, ENST00000965522
RefSeq mRNA: 1 — MANE Select: NM_002703
NM_002703
CCDS: CCDS3505
Canonical transcript exons
ENST00000264220 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001032561 | 56400784 | 56400911 |
| ENSE00001032575 | 56401330 | 56401481 |
| ENSE00001074648 | 56435350 | 56435615 |
| ENSE00001074653 | 56399179 | 56399400 |
| ENSE00001895738 | 56393362 | 56395548 |
| ENSE00003466503 | 56407650 | 56407716 |
| ENSE00003481598 | 56396619 | 56396739 |
| ENSE00003487288 | 56403040 | 56403185 |
| ENSE00003593732 | 56406495 | 56406701 |
| ENSE00003634206 | 56402109 | 56402181 |
| ENSE00003654105 | 56403289 | 56403401 |
Expression profiles
Bgee: expression breadth ubiquitous, 228 present calls, max score 87.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.7476 / max 156.1556, expressed in 1699 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 52193 | 6.3447 | 1569 |
| 52191 | 3.5446 | 1109 |
| 52192 | 0.8584 | 512 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 87.96 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.95 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.70 | gold quality |
| cortical plate | UBERON:0005343 | 85.61 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.52 | gold quality |
| adrenal tissue | UBERON:0018303 | 84.15 | gold quality |
| embryo | UBERON:0000922 | 82.00 | gold quality |
| islet of Langerhans | UBERON:0000006 | 79.79 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.36 | gold quality |
| body of pancreas | UBERON:0001150 | 78.22 | gold quality |
| calcaneal tendon | UBERON:0003701 | 77.75 | gold quality |
| pancreas | UBERON:0001264 | 77.59 | gold quality |
| rectum | UBERON:0001052 | 77.16 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 76.83 | gold quality |
| left adrenal gland | UBERON:0001234 | 76.75 | gold quality |
| ovary | UBERON:0000992 | 76.43 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 76.42 | gold quality |
| left ovary | UBERON:0002119 | 76.37 | gold quality |
| right adrenal gland | UBERON:0001233 | 75.98 | gold quality |
| adrenal gland | UBERON:0002369 | 75.97 | gold quality |
| right ovary | UBERON:0002118 | 75.70 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 75.54 | silver quality |
| prefrontal cortex | UBERON:0000451 | 75.10 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 74.61 | gold quality |
| cingulate cortex | UBERON:0003027 | 74.60 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 74.57 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 74.50 | gold quality |
| cerebellar cortex | UBERON:0002129 | 74.48 | gold quality |
| lymph node | UBERON:0000029 | 74.23 | gold quality |
| secondary oocyte | CL:0000655 | 74.18 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.36 |
| E-GEOD-99795 | no | 148.59 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
124 targeting PPAT, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 52.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- purine biosynthetic pathway enzymes PPAT and PAICS, as well as pyruvate kinase activity are increased in lung cancer (PMID:26140362)
- The data indicate that amino acid/nucleotide metabolism-related genes OGDH, PPAT and PCCA acquire somatic mutations in microsatellite instability-high gastric cancers and colorectal cancers and that mutational intratumoral heterogeneity may occur in at least some of these tumors. (PMID:27468871)
- Phosphopantetheine Adenylyltransferase: A promising drug target to combat antibiotic resistance. (PMID:33271445)
- Species-Specific Deamidation of RIG-I Reveals Collaborative Action between Viral and Cellular Deamidases in HSV-1 Lytic Replication. (PMID:33785613)
- SHMT2 promotes the tumorigenesis of renal cell carcinoma by regulating the m6A modification of PPAT. (PMID:35798250)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppat | ENSDARG00000004517 |
| mus_musculus | Ppat | ENSMUSG00000029246 |
| rattus_norvegicus | Ppat | ENSRNOG00000002128 |
| drosophila_melanogaster | Prat | FBGN0004901 |
| drosophila_melanogaster | Prat2 | FBGN0041194 |
Protein
Protein identifiers
Amidophosphoribosyltransferase — Q06203 (reviewed: Q06203)
Alternative names: Glutamine phosphoribosylpyrophosphate amidotransferase
All UniProt accessions (4): Q06203, A8K4H7, D6RCC8, D6RE15
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the formation of phosphoribosylamine from phosphoribosylpyrophosphate (PRPP) and glutamine.
Subunit / interactions. Homotetramer.
Tissue specificity. Ubiquitously expressed.
Cofactor. Binds 1 Mg(2+) ion per subunit. Binds 1 [4Fe-4S] cluster per subunit.
Pathway. Purine metabolism; IMP biosynthesis via de novo pathway; N(1)-(5-phospho-D-ribosyl)glycinamide from 5-phospho-alpha-D-ribose 1-diphosphate: step 1/2.
Similarity. In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.
RefSeq proteins (1): NP_002694* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000836 | PRTase_dom | Domain |
| IPR005854 | PurF | Family |
| IPR017932 | GATase_2_dom | Domain |
| IPR029055 | Ntn_hydrolases_N | Homologous_superfamily |
| IPR029057 | PRTase-like | Homologous_superfamily |
| IPR035584 | PurF_N | Domain |
Pfam: PF00156, PF13522
Enzyme classification (BRENDA):
- EC 2.4.2.14 — amidophosphoribosyltransferase (BRENDA: 22 organisms, 39 substrates, 103 inhibitors, 55 Km, 3 kcat entries)
- EC 2.7.7.3 — pantetheine-phosphate adenylyltransferase (BRENDA: 25 organisms, 18 substrates, 81 inhibitors, 22 Km, 4 kcat entries)
Substrate kinetics (BRENDA)
13 substrates with measured Km, best-characterized 13. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| L-GLUTAMINE | 0.1–236 | 26 |
| 5-PHOSPHO-ALPHA-D-RIBOSE 1-DIPHOSPHATE | 0.031–0.87 | 15 |
| ATP | 0.1157–1 | 6 |
| 3’-DEPHOSPHO-COA | 0.0067–0.0147 | 4 |
| DIPHOSPHATE | 0.022–0.272 | 4 |
| PANTETHEINE 4’-PHOSPHATE | 0.015–0.19 | 4 |
| NH3 | 7.34–16 | 3 |
| GLUTAMINE | 193 | 1 |
| MG2+ | 0.65 | 1 |
| NH4+ | 16 | 1 |
| DEPHOSPHO-COA | 0.017 | 1 |
| MG-ATP | 0.22 | 1 |
| PHOSPHOPANTETHEINE | 0.0047 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- 5-phospho-beta-D-ribosylamine + L-glutamate + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + L-glutamine + H2O (RHEA:14905)
UniProt features (13 total): binding site 7, propeptide 1, chain 1, modified residue 1, sequence conflict 1, domain 1, active site 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9Q0N | ELECTRON MICROSCOPY | 2.8 |
| 9Q0O | ELECTRON MICROSCOPY | 2.9 |
| 9Q0M | ELECTRON MICROSCOPY | 3.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q06203-F1 | 86.66 | 0.69 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 12 (nucleophile)
Ligand- & substrate-binding residues (7): 506; 280; 327; 389; 390; 426; 503
Post-translational modifications (1): 1
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-73817 | Purine ribonucleoside monophosphate biosynthesis |
MSigDB gene sets: 236 (showing top):
RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MITSIADES_RESPONSE_TO_APLIDIN_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, KANNAN_TP53_TARGETS_DN, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, BROWNE_HCMV_INFECTION_12HR_UP, USF_C, CAGCTG_AP4_Q5, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX
GO Biological Process (6): purine nucleotide biosynthetic process (GO:0006164), GMP biosynthetic process (GO:0006177), ‘de novo’ IMP biosynthetic process (GO:0006189), purine nucleobase biosynthetic process (GO:0009113), ‘de novo’ AMP biosynthetic process (GO:0044208), ‘de novo’ XMP biosynthetic process (GO:0097294)
GO Molecular Function (8): amidophosphoribosyltransferase activity (GO:0004044), metal ion binding (GO:0046872), 4 iron, 4 sulfur cluster binding (GO:0051539), catalytic activity (GO:0003824), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), iron-sulfur cluster binding (GO:0051536)
GO Cellular Component (1): cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Nucleotide biosynthesis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| purine-containing compound biosynthetic process | 2 |
| purine nucleotide metabolic process | 1 |
| nucleotide biosynthetic process | 1 |
| purine ribonucleotide biosynthetic process | 1 |
| purine ribonucleoside monophosphate biosynthetic process | 1 |
| GMP metabolic process | 1 |
| IMP biosynthetic process | 1 |
| purine nucleobase metabolic process | 1 |
| nucleobase biosynthetic process | 1 |
| AMP biosynthetic process | 1 |
| XMP biosynthetic process | 1 |
| pentosyltransferase activity | 1 |
| cation binding | 1 |
| iron-sulfur cluster binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| metal cluster binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2548 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPAT | PAICS | P22234 | 986 |
| PPAT | PFAS | O15067 | 983 |
| PPAT | GART | P22102 | 978 |
| PPAT | ADSL | P30566 | 910 |
| PPAT | CAD | P27708 | 805 |
| PPAT | ATIC | P31939 | 762 |
| PPAT | GMPS | P49915 | 759 |
| PPAT | PGM2 | Q96G03 | 729 |
| PPAT | APRT | P07741 | 717 |
| PPAT | ADSS2 | P30520 | 688 |
| PPAT | IMPDH1 | P20839 | 667 |
| PPAT | IMPDH2 | P12268 | 665 |
| PPAT | ADSS1 | Q8N142 | 665 |
| PPAT | MTHFD1 | P11586 | 664 |
| PPAT | PRPS1 | P09329 | 649 |
| PPAT | PRPS2 | P11908 | 649 |
IntAct
35 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MMS19 | ERCC2 | psi-mi:“MI:0914”(association) | 0.690 |
| PPAT | NUDT5 | psi-mi:“MI:0915”(physical association) | 0.640 |
| B2M | NEMP1 | psi-mi:“MI:0914”(association) | 0.640 |
| B2M | KPNA3 | psi-mi:“MI:0914”(association) | 0.530 |
| MAD2L1 | PPIP5K2 | psi-mi:“MI:0914”(association) | 0.530 |
| PPAT | SELENOI | psi-mi:“MI:0915”(physical association) | 0.370 |
| ATXN1 | PPAT | psi-mi:“MI:0915”(physical association) | 0.370 |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
| CIAO2B | ELP1 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| incF | PMPCB | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC5 | IGKV2D-24 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-A | AIP | psi-mi:“MI:0914”(association) | 0.350 |
| NUDT5 | FLNB | psi-mi:“MI:0914”(association) | 0.350 |
| CA10 | ENTPD5 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJA2 | ENC1 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJC30 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM167A | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| GAB2 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| ITM2C | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL49 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHGA9 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| PEX7 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| VENTX | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| CFTR | UBA6 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (92): PPAT (Affinity Capture-MS), G6PD (Affinity Capture-MS), CCZ1 (Affinity Capture-MS), HDAC3 (Affinity Capture-MS), PPAT (Affinity Capture-MS), ARHGAP1 (Co-fractionation), GART (Co-fractionation), IMPDH2 (Co-fractionation), NPEPL1 (Co-fractionation), PAK1 (Co-fractionation), PPAT (Co-fractionation), PPAT (Co-fractionation), PPAT (Co-fractionation), PPAT (Co-fractionation), PRPS1 (Co-fractionation)
ESM2 similar proteins: A0A3L7I2I8, A0FKG7, A1Z6E0, A6QLT2, A8QGZ7, B0X9V1, B3MDR0, B3NRP1, B4F739, B4GBN7, B4HQ29, B4J6Q0, B4KNC5, B4LMQ3, B4MR59, B4P4K8, B4QE02, O60733, P0C2W1, P0CH38, P23727, P27986, P28173, P33121, P35433, P37287, P41216, P53041, P53042, P97570, P97819, Q06203, Q13614, Q16XV7, Q27601, Q290L5, Q5R685, Q5REB9, Q60676, Q6NZ03
Diamond homologs: A0A7T8J1U7, O26273, O26742, O29388, O57979, P00497, P04046, P0AG16, P0AG17, P28173, P35433, P35853, P41390, P43854, P52418, P52419, P65830, P65831, P77935, P99164, P9WHQ6, P9WHQ7, Q06203, Q12698, Q27601, Q50028, Q51342, Q55038, Q55621, Q57657, Q577Y1, Q5FUY5, Q5HH14, Q5HQA0, Q6GAE3, Q6GI14, Q86A85, Q8CIH9, Q8CT30, Q8CY30
SIGNOR signaling
8 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PPAT | “down-regulates quantity” | “L-glutamine zwitterion” | “chemical modification” |
| PPAT | “up-regulates activity” | Purine_biosynthesis | |
| PPAT | “up-regulates quantity” | 5-phospho-beta-D-ribosylaminium(1-) | “chemical modification” |
| PPAT | “down-regulates quantity” | “5-phospho-α-D-ribose 1-diphosphate” | “chemical modification” |
| PPAT | “up-regulates quantity” | L-glutamate(1-) | “chemical modification” |
| NFE2L2 | “up-regulates quantity by expression” | PPAT | “transcriptional regulation” |
| MYC | “up-regulates quantity by expression” | PPAT | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
3358 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:56399246:T:A | D390V | 1.000 |
| 4:56399344:G:C | F357L | 1.000 |
| 4:56399344:G:T | F357L | 1.000 |
| 4:56399346:A:G | F357L | 1.000 |
| 4:56435431:C:T | G16E | 1.000 |
| 4:56396663:A:G | L438P | 0.999 |
| 4:56396691:C:G | G429R | 0.999 |
| 4:56396691:C:T | G429R | 0.999 |
| 4:56396698:G:C | C426W | 0.999 |
| 4:56396700:A:G | C426R | 0.999 |
| 4:56399244:A:G | S391P | 0.999 |
| 4:56399245:A:C | D390E | 0.999 |
| 4:56399245:A:T | D390E | 0.999 |
| 4:56399246:T:C | D390G | 0.999 |
| 4:56399246:T:G | D390A | 0.999 |
| 4:56399247:C:G | D390H | 0.999 |
| 4:56399345:A:C | F357C | 0.999 |
| 4:56399345:A:G | F357S | 0.999 |
| 4:56399350:T:A | R355S | 0.999 |
| 4:56399350:T:G | R355S | 0.999 |
| 4:56399351:C:A | R355I | 0.999 |
| 4:56399351:C:G | R355T | 0.999 |
| 4:56400832:G:C | S322R | 0.999 |
| 4:56400832:G:T | S322R | 0.999 |
| 4:56400834:T:G | S322R | 0.999 |
| 4:56403108:C:G | R198P | 0.999 |
| 4:56403360:A:C | S148R | 0.999 |
| 4:56403360:A:T | S148R | 0.999 |
| 4:56403362:T:G | S148R | 0.999 |
| 4:56406529:C:A | G123V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS10000147 (4:56394795 A>G), RS1000028114 (4:56434461 C>T), RS1000127698 (4:56414252 T>C), RS1000293847 (4:56406192 G>A), RS1000386892 (4:56420672 G>A,C), RS1000389708 (4:56413788 T>C), RS1000466178 (4:56416025 A>G,T), RS1000548492 (4:56399664 A>T), RS1000549232 (4:56434737 T>C), RS1000669384 (4:56422405 C>T), RS1000735527 (4:56420982 T>G), RS1000774872 (4:56415235 A>G), RS1001017892 (4:56426319 T>C), RS1001029821 (4:56408091 T>A), RS1001069837 (4:56426591 C>T)
Disease associations
OMIM: gene MIM:172450 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2362992 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — C44: Phosphoribosyl pyrophosphate amidotransferase
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tetrachlorodibenzodioxin | decreases expression | 3 |
| sodium arsenite | increases expression, decreases expression, increases abundance | 2 |
| Arsenic | increases methylation, increases abundance, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Cadmium Chloride | decreases reaction, increases abundance, increases palmitoylation, decreases expression | 2 |
| aristolochic acid I | increases expression, decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| pinosylvin | decreases expression | 1 |
| tamibarotene | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Dasatinib | affects binding | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Biological Factors | decreases expression | 1 |
| Cadmium | increases palmitoylation, decreases reaction, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Copper | affects cotreatment, increases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4118787 | Binding | Binding affinity to PPAT in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.