Affinage

CTPS1

CTP synthase 1 · UniProt P17812

Length
591 aa
Mass
66.7 kDa
Annotated
2026-06-09
33 papers in source corpus 15 papers cited in narrative 15 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

CTPS1 is the principal rate-limiting enzyme for de novo CTP biosynthesis and the dominant isoform driving the CTP-pool expansion required for proliferation, particularly in activated T lymphocytes (PMID:32161190, PMID:37348953). It is intrinsically more active than its paralog CTPS2 and relatively resistant to CTP product feedback inhibition; cryo-EM shows that CTP binds two sites that clash with substrates to enforce feedback inhibition, while a single amino acid substitution governs the isoform selectivity exploited by small-molecule inhibitors (PMID:34583994, PMID:37348953). CTP binding also drives assembly of CTPS1 into large-scale filaments that represent a hyperactive enzyme form, a mechanism conserved across eukaryotic CTPS [PMID:34583994, PMID:bio_10.1101_2025.02.22.639624]. CTPS1 directly heterodimerizes with CTPS2 independently of polymerization; within these heterocomplexes CTPS1 activity is dampened and rendered more feedback-sensitive, and filament (cytoophidium) formation itself is dispensable for proliferation (PMID:40957650). CTPS1 abundance is set post-translationally through competing ubiquitination and stabilization, including RASD2-promoted SUMOylation that blocks ubiquitin-proteasomal degradation (PMID:39672102) and INHBA-mediated antagonism of SMURF1-driven ubiquitination (PMID:41239468), and transcriptionally through direct YBX1 promoter binding (PMID:34991621). Because of its proliferative role, CTPS1 inhibition induces DNA replication stress—pronounced in MYC-overexpressing cells—S-phase arrest, and DNA damage, creating synthetic lethality with ATR, CHK1, and WEE1 inhibitors and synergy with BCL2 inhibition (PMID:35022212, PMID:38385294, PMID:37898670). Loss-of-function CTPS1 mutation causing protein instability produces a human immunodeficiency with impaired T cell proliferation (PMID:32161190).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 2020 High

    Established that CTPS1 is genetically required for human T cell proliferation by showing a destabilizing mutation, not catalytic loss, abolishes function.

    Evidence Enzymatic activity assays in patient cells plus genetic complementation with WT and mutant constructs in CTPS1-deficient leukemia cells

    PMID:32161190

    Open questions at the time
    • Does not resolve why CTPS1 is uniquely required over CTPS2 in lymphocytes
    • Mechanism of mutant protein instability not defined
  2. 2021 High

    Defined the structural basis of CTP feedback inhibition and isoform-selective inhibition, explaining CTPS1's reduced feedback sensitivity and its hyperactive filament form.

    Evidence Cryo-EM of inhibitor- and CTP-bound CTPS1 filaments with mutagenesis and primary T cell proliferation assays

    PMID:34583994

    Open questions at the time
    • Functional advantage of filamentation in cells not fully resolved
    • In vivo regulation of filament assembly not addressed
  3. 2021 Medium

    Linked CTPS interaction partners and subcellular redistribution to metabolic state, suggesting context-dependent associations beyond catalysis.

    Evidence Co-IP/MS identifying ATP synthase and STRESS-70 partners, ATP measurements, and localization imaging in a decidualization model

    PMID:33576499

    Open questions at the time
    • Interactions not validated reciprocally or isoform-resolved
    • Functional consequence of nuclear redistribution unclear
  4. 2022 Medium

    Identified a transcriptional driver of CTPS1, placing YBX1 upstream of CTPS1-dependent proliferation.

    Evidence ChIP and dual luciferase reporter assays with CTPS1 knockdown rescue in TNBC

    PMID:34991621

    Open questions at the time
    • Generality of YBX1 control beyond TNBC unknown
    • Other transcriptional regulators not surveyed
  5. 2022 High

    Connected CTPS1 inhibition to selective DNA replication stress in MYC-driven cells and defined ATR synthetic lethality.

    Evidence Isoform-specific knockdown/inhibition, replication stress assays, and ATR-inhibitor combinations in vitro and in xenografts

    PMID:35022212

    Open questions at the time
    • Why MYC-driven rRNA synthesis specifically sensitizes to CTPS1 loss not fully mechanistic
    • CTPS2 redundancy threshold not defined
  6. 2023 High

    Quantified CTPS1 as the dominant proliferative isoform with higher intrinsic activity and inhibitor resistance relative to CTPS2.

    Evidence KO/complementation, in vitro enzymatic and 3-deaza-uridine inhibition assays, and analysis of >1,000 cancer cell line datasets

    PMID:37348953

    Open questions at the time
    • Structural basis of CTPS2 essentiality in CTPS1 absence not resolved here
  7. 2023 Medium

    Showed CTPS1 inhibition triggers DNA damage and cell cycle arrest exploitable through DDR-pathway combinations and apoptotic synergy.

    Evidence CTPS1 KO and STP-B inhibition with γH2AX, cell cycle, and ATR/CHEK1/WEE1 and BCL2-inhibitor combination studies in myeloma and mantle cell lymphoma in vitro and in vivo

    PMID:37898670 PMID:38385294

    Open questions at the time
    • Direct cause of double-strand breaks downstream of CTP depletion not fully defined
    • Translation suppression mechanism beyond MCL1 not detailed
  8. 2024 Medium

    Identified post-translational stabilization of CTPS1 via RASD2-promoted SUMOylation antagonizing ubiquitination.

    Evidence Co-IP, IP-MS, ubiquitination/SUMOylation Western blots, and ChIP-qPCR in endometriosis models

    PMID:39672102

    Open questions at the time
    • SUMO acceptor sites on CTPS1 not mapped
    • Single-lab finding in one disease context
  9. 2024 Medium

    Extended CTPS1's role beyond nucleotide synthesis to glycerophospholipid reprogramming and mitophagy via CTP-dependent CEPT1 upregulation.

    Evidence CTPS1 KO/KD, scRNA-seq, selective inhibitor R80, and mitophagy assays in DLBCL

    PMID:41865720

    Open questions at the time
    • Mechanism by which CTP availability raises CEPT1 expression unclear
    • Single-lab, single tumor type
  10. 2025 High

    Demonstrated direct CTPS1-CTPS2 heterocomplex formation that attenuates CTPS1 activity and showed cytoophidia are dispensable for proliferation.

    Evidence Co-IP, enzymatic assays of purified complexes, KO/complementation, and H355A cytoophidium-deficient mutant analysis

    PMID:40957650

    Open questions at the time
    • Stoichiometry and regulation of hetero- vs homo-complexes in cells not resolved
    • Physiological trigger for heterocomplex assembly unknown
  11. 2025 Medium

    Resolved that the enzymatic product CTP drives CTPS1 filamentation through two distinct binding pockets in an evolutionarily conserved mechanism.

    Evidence Cryo-EM of CTP-bound hCTPS1 filaments with biochemical filamentation and pocket-mutant assays (preprint)

    PMID:bio_10.1101_2025.02.22.639624

    Open questions at the time
    • Preprint not yet peer-reviewed
    • Cellular consequence of product-driven assembly versus disassembly not established
  12. 2025 Medium

    Identified INHBA as a stabilizer of CTPS1 by competing with SMURF1-mediated ubiquitination, linking CTPS1 abundance to chemoresistance.

    Evidence IP-MS, Co-IP, in vitro ubiquitination assays, and xenografts in pancreatic cancer

    PMID:41239468

    Open questions at the time
    • SMURF1 ubiquitination sites on CTPS1 not mapped
    • Single-lab finding
  13. 2025 Low

    Probed chaperone control of CTPS assembly, implicating HSPD1 in cytoophidium formation and proliferation.

    Evidence Co-IP of HSPD1-CTPS, Hspd1 knockdown, CTPS overexpression, and H355A mutant with proliferation assays in C2C12 cells

    PMID:39971178

    Open questions at the time
    • Single Co-IP without reciprocal validation
    • Direct role of HSPD1 in assembly versus folding not separated
    • Conflicts with finding that cytoophidia are dispensable for proliferation

Open questions

Synthesis pass · forward-looking unresolved questions
  • How CTPS1 abundance, heterocomplex composition, and filament state are coordinately regulated in vivo to set proliferative CTP supply remains unresolved.
  • No unified in vivo model integrating transcriptional, ubiquitin/SUMO, and assembly-state control
  • Physiological cues governing CTPS1-CTPS2 heterocomplex formation unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016740 transferase activity 3 GO:0016874 ligase activity 3 GO:0140098 catalytic activity, acting on RNA 3
Localization
GO:0005634 nucleus 1 GO:0005829 cytosol 1
Pathway
R-HSA-1430728 Metabolism 3 R-HSA-1640170 Cell Cycle 2 R-HSA-168256 Immune System 1
Complex memberships
CTPS cytoophidium (filament)CTPS1-CTPS2 heterocomplex

Evidence

Reading pass · 15 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2021 Cryo-EM structures reveal that CTP regulates both CTPS1 and CTPS2 by binding in two sites that clash with substrates (product feedback inhibition). CTPS1 is less sensitive to CTP feedback inhibition than CTPS2, consistent with its role in expanding CTP pools during lymphocyte proliferation. Small-molecule inhibitors that are CTPS1-selective or non-selective mimic CTP binding at one inhibitory site, with a single amino acid substitution explaining isoform selectivity. Both inhibitors bind to CTPS1 assembled into large-scale filaments, which represent a hyperactive form of the enzyme. Cryo-electron microscopy (cryo-EM) structures of inhibitor-bound and CTP-bound CTPS1 filaments; biochemical inhibition assays; site-directed mutagenesis (amino acid substitution analysis); primary T cell proliferation assay Proceedings of the National Academy of Sciences of the United States of America High 34583994
2020 CTPS1 deficiency caused by homozygous frameshift splice mutation (c.1692-1G>C, p.T566Dfs26X) results in 80–90% reduction of CTPS protein and CTP synthetase activity in patient lymphocytes, leading to severely impaired T cell proliferation and IL-2 secretion upon TCR activation. The mutant protein (T566Dfs26X) retains normal CTPS enzymatic activity when expressed at wild-type levels; loss of function is entirely attributable to protein instability. Inactivation of CTPS1 in a T cell leukemia line fully abolished proliferation, confirming CTPS1 is required for T cell proliferative responses. CTPS enzymatic activity assay in patient cells; genetic complementation in CTPS1-deficient leukemia cells with WT and mutant constructs; immune phenotyping; T cell proliferation and IL-2 secretion assays JCI insight High 32161190
2023 CTPS1 has higher intrinsic CTP synthetase enzymatic activity than CTPS2 and is more resistant to inhibition by the UTP analog 3-deaza-uridine. Using inactivation and complementation experiments, CTPS1 was shown to be the primary contributor to cell proliferation; CTPS2 contributes modestly when CTPS1 is present but is essential in its absence. CTPS1 and/or CTPS2 inactivation by KO; complementation experiments; in vitro enzymatic activity assays; 3-deaza-uridine inhibition assays; analysis of >1,000 cancer cell line datasets Life science alliance High 37348953
2022 Inhibition of CTPS1 (but not CTPS2) selectively induces DNA replication stress in MYC-overexpressing cancer cells. MYC-driven rRNA synthesis causes selective replication stress upon CTPS1 inhibition. Combined inhibition of CTPS1 and ATR is synthetically lethal in MYC-overexpressing cells in vitro and decreases tumor growth in vivo. CTPS1/CTPS2-selective knockdown/inhibition; replication stress assays; cell viability assays; in vivo xenograft tumor models; ATR inhibitor combination studies Cancer research High 35022212
2025 CTPS1 and CTPS2 directly interact with each other independently of polymerization and cytoophidium formation, forming heterocomplexes. When associated with CTPS2, CTPS1 enzymatic activity is decreased and becomes more sensitive to CTP product feedback inhibition, demonstrating that CTPS2 modulates CTPS1 activity through heterocomplex formation. CTPS2-containing filaments (cytoophidia) are dependent on CTPS1 expression. CTPS1H355A and CTPS2H355A mutants unable to form cytoophidia can still sustain normal cell proliferation, showing cytoophidia are not required for proliferation. Co-immunoprecipitation; enzymatic activity assays with purified complexes; CTPS1/CTPS2 KO and complementation; H355A cytoophidium-deficient mutant analysis; co-localization imaging Life science alliance High 40957650
2025 CTP (the enzymatic product of CTPS1) acts as a key regulator driving hCTPS1 filamentation. Cryo-EM structures of CTP-bound hCTPS1 filaments reveal the molecular details of CTP binding in filament assembly. CTP generated from the enzymatic reaction does not trigger filament disassembly. Two distinct CTP-binding pockets mediate this filamentation, and the mechanism is evolutionarily conserved across eukaryotic CTPS. Cryo-electron microscopy (cryo-EM) of CTP-bound hCTPS1 filaments; biochemical filamentation assays; analysis of CTP-binding pocket mutants bioRxivpreprint Medium bio_10.1101_2025.02.22.639624
2024 RASD2 promotes SUMOylation of CTPS1 and inhibits its ubiquitination, thereby increasing CTPS1 protein stability. This was demonstrated by co-immunoprecipitation and immunoprecipitation-mass spectrometry in endometriosis cells, where histone lactylation upregulates RASD2, which in turn stabilizes CTPS1 via the SUMOylation/ubiquitination balance. Co-immunoprecipitation (Co-IP); immunoprecipitation-mass spectrometry (IP-MS); Western blot for ubiquitination and SUMOylation; ChIP-qPCR; in vitro and in vivo endometriosis models American journal of physiology. Cell physiology Medium 39672102
2021 CTPS interacts with ATP synthase (ATPS) and maintains ATP content during early decidualization (Day 3). At Day 6 of decidualization, CTPS instead associates with mitochondrial stress protein STRESS-70, correlating with reduced ATP concentration. CTPS localization shifts from cytoplasm (Day 3) to both cytoplasm and nucleus (Day 6), suggesting subcellular redistribution is linked to metabolic function during the decidualization process. Co-immunoprecipitation coupled with mass spectrometry; subcellular fractionation/immunofluorescence localization; CTPS knockdown by siRNA; in vitro decidualization model Journal of cellular physiology Medium 33576499
2024 CTPS1 upregulates expression of choline/ethanolamine phosphotransferase 1 (CEPT1) by increasing CTP availability, thereby reprogramming glycerophospholipid metabolism. Glycerophospholipids synthesized by CEPT1 maintain mitochondrial homeostasis and promote BNIP3-mediated mitophagy, driving DLBCL progression. CTPS1 knockout/knockdown; single-cell RNA sequencing; Western blot and gene expression analysis; selective CTPS1 inhibitor (R80); functional mitophagy assays Redox biology Medium 41865720
2025 INHBA interacts with CTPS1 and competitively inhibits SMURF1 (SMAD Specific E3 Ubiquitin Protein Ligase 1)-mediated ubiquitination of CTPS1, thereby enhancing CTPS1 protein stability and promoting pyrimidine metabolism and gemcitabine resistance in pancreatic cancer cells. Immunoprecipitation mass spectrometry to identify CTPS1 as INHBA binding partner; Co-IP; in vitro ubiquitination assay; in vivo xenograft model Cancer cell international Medium 41239468
2022 YBX1 (Y-box binding protein 1) directly binds to the CTPS1 promoter and activates its transcription, as demonstrated by dual luciferase reporter assays and chromatin immunoprecipitation (ChIP). Rescue experiments confirmed that enhanced cell proliferation and invasion driven by YBX1 overexpression could be reversed by CTPS1 knockdown, placing YBX1 upstream of CTPS1 in TNBC. Dual luciferase reporter assay; chromatin immunoprecipitation (ChIP); CTPS1 knockdown; YBX1 overexpression rescue experiment Journal of translational medicine Medium 34991621
2023 CTPS1 pharmacological inhibition by STP-B in mantle cell lymphoma causes rapid cell cycle arrest in early S-phase, inhibition of translation including anti-apoptotic MCL1 protein, and synergistic cell death in combination with the BCL2 inhibitor venetoclax, both in vitro and in vivo. Selective CTPS1 inhibitor STP-B; flow cytometry cell cycle analysis; Western blot for MCL1; in vitro and in vivo MCL models; BCL2 inhibitor combination assay Haematologica Medium 38385294
2023 CTPS1 knockout in multiple myeloma cells induces apoptosis and S-phase arrest with DNA double-strand breaks. Pharmacological inhibition of CTPS1 by STP-B activates DNA damage response (DDR) pathways. Combined inhibition of CTPS1 with ATR, CHEK1, or WEE1 inhibitors results in synergistic growth inhibition and early apoptosis. CTPS1 knockout; selective CTPS1 inhibitor STP-B; flow cytometry; DNA damage marker assays (γH2AX); DDR pathway inhibitor combinations; apoptosis assays Leukemia Medium 37898670
2024 Single-molecule fluorescence imaging demonstrated that CTPS self-assembles with tetramers as the minimum structural unit driving cytoophidium formation. CTPS acts as the nucleation core to induce subsequent growth of P5CS (Δ1-pyrroline-5-carboxylate synthase) filaments, constituting a coassembly (coordinated assembly) process in vitro. Single-molecule fluorescence imaging; single-molecule photobleach counting for stoichiometry; oligomer state distribution analysis under different conditions; in vitro reconstitution of CTPS and P5CS coassembly The journal of physical chemistry. B Medium 38236746
2025 HSPD1 (HSP60) interacts with CTPS protein; interference with Hspd1 gene expression inhibits CTPS cytoophidium formation even when CTPS is overexpressed, and this inhibits C2C12 skeletal muscle cell proliferation. The cytoophidium-deficient H355A CTPS mutant similarly inhibits proliferation. Co-immunoprecipitation (Co-IP) of HSPD1-CTPS; Hspd1 knockdown; CTPS overexpression; H355A mutation; EdU incorporation and viability assays Experimental cell research Low 39971178

Source papers

Stage 0 corpus · 33 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1991 Chromosome mapping of the human cytidine-5'-triphosphate synthetase (CTPS) gene to band 1p34.1-p34.3 by fluorescence in situ hybridization. Human genetics 124 1959918
2018 Interfilament interaction between IMPDH and CTPS cytoophidia. The FEBS journal 54 30085408
2022 CTPS1 promotes malignant progression of triple-negative breast cancer with transcriptional activation by YBX1. Journal of translational medicine 47 34991621
2022 Combined Inactivation of CTPS1 and ATR Is Synthetically Lethal to MYC-Overexpressing Cancer Cells. Cancer research 46 35022212
2015 Assembly of IMPDH2-based, CTPS-based, and mixed rod/ring structures is dependent on cell type and conditions of induction. Journal of genetics and genomics = Yi chuan xue bao 45 26165495
2020 Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation. JCI insight 37 32161190
2021 Structural basis for isoform-specific inhibition of human CTPS1. Proceedings of the National Academy of Sciences of the United States of America 33 34583994
2021 CTPS and IMPDH form cytoophidia in developmental thymocytes. Experimental cell research 22 34022203
2023 CTPS1 is a novel therapeutic target in multiple myeloma which synergizes with inhibition of CHEK1, ATR or WEE1. Leukemia 20 37898670
2021 CTPS forms the cytoophidium in zebrafish. Experimental cell research 20 34129847
2023 Differential roles of CTP synthetases CTPS1 and CTPS2 in cell proliferation. Life science alliance 19 37348953
2022 CTPS1 inhibition suppresses proliferation and migration in colorectal cancer cells. Cell cycle (Georgetown, Tex.) 15 35912542
1991 Genomic organization and chromosomal localization of the human CTP synthetase gene (CTPS). Genomics 13 1783378
2023 Fat body-specific reduction of CTPS alleviates HFD-induced obesity. eLife 11 37695169
2021 ASNS disruption shortens CTPS cytoophidia in Saccharomyces cerevisiae. G3 (Bethesda, Md.) 10 33561249
2021 Energy deficiency caused by CTPS downregulation in decidua may contribute to pre-eclampsia by impairing decidualization. Journal of cellular physiology 8 33576499
2024 Selective pharmacologic targeting of CTPS1 shows single-agent activity and synergizes with BCL2 inhibition in aggressive mantle cell lymphoma. Haematologica 7 38385294
2024 Single-Molecule Fluorescence Imaging Reveals Coassembly of CTPS and P5CS. The journal of physical chemistry. B 4 38236746
2024 Histone lactylation-mediated overexpression of RASD2 promotes endometriosis progression via upregulating the SUMOylation of CTPS1. American journal of physiology. Cell physiology 3 39672102
2022 CTPS cytoophidia formation affects cell cycle progression and promotes TSN‑induced apoptosis of MKN45 cells. Molecular medicine reports 2 36043523
2025 CTPS cytoophidia in Drosophila: distribution, regulation, and physiological roles. Experimental cell research 1 40122502
2022 [Interference of CTPS gene promotes toosendanin-induced apoptosis of human gastric cancer MKN-45 cells]. Nan fang yi ke da xue xue bao = Journal of Southern Medical University 1 36073210
2022 Asymmetric inheritance of cytoophidia could contribute to determine cell fate and plasticity: The onset of alternative differentiation patterns in daughter cells may rely on the acquisition of either CTPS or IMPDH cytoophidia: The onset of alternative differentiation patterns in daughter cells may rely on the acquisition of either CTPS or IMPDH cytoophidia. BioEssays : news and reviews in molecular, cellular and developmental biology 1 36209393
2020 [Effects of Toosendanin on the formation of CTPS cytoophidium in human gastric cancer cell MKN-45 and its mechanism]. Zhongguo ying yong sheng li xue za zhi = Zhongguo yingyong shenglixue zazhi = Chinese journal of applied physiology 1 33719272
2026 CTPS1 modulates mitophagy to propel diffuse large B-cell lymphoma via reshaping CEPT1-mediated phospholipid metabolism. Redox biology 0 41865720
2025 HSPD1-facilitated formation of CTPS cytoophidia promotes proliferation in C2C12 cells. Experimental cell research 0 39971178
2025 Integrative role of CTPS cytoophidia in polyploid tissue growth and nutrient adaptation. Insect science 0 40287929
2025 [Circ_0000437 promotes proliferation, invasion, migration and epithelial-mesenchymal transition of breast cancer cells by targeting the let-7b-5p/CTPS1 axis]. Nan fang yi ke da xue xue bao = Journal of Southern Medical University 0 40916530
2025 CTPS2 regulates CTP synthetase activity by interacting with CTPS1. Life science alliance 0 40957650
2025 VitisC: Visualizing small proteins via the integrated scaffold of Escherichia coli CTP synthase (CTPS) cytoophidium. International journal of biological macromolecules 0 41101423
2025 INHBA promotes chemoresistance in pancreatic cancer by enhancing CTPS1 stability and mediating pyrimidine metabolism. Cancer cell international 0 41239468
2024 MiR-519e-5p regulates malignant phenotype of breast cancer cells through binding to CTPS1. Experimental cell research 0 39197579
2024 Combined inhibition of CTPS1 and ATR is a metabolic vulnerability in p53-deficient myeloma cells. HemaSphere 0 39380841

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