Affinage

TASP1

Threonine aspartase 1 · UniProt Q9H6P5

Length
420 aa
Mass
44.5 kDa
Annotated
2026-06-10
25 papers in source corpus 10 papers cited in narrative 10 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/5 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

TASP1 (Taspase1) is a nuclear endopeptidase that site-specifically cleaves multiple nuclear substrates to control their stability and activity, thereby coordinating cell proliferation, hematopoiesis, craniofacial and axial skeletal patterning, and DNA damage tolerance (PMID:30573454, PMID:25664857, PMID:34156981). Its substrate repertoire spans the histone methyltransferase MLL1/KMT2A, whose cleavage destabilizes MLL1 and limits its chromatin association and is required for HER2/neu-driven mammary tumorigenesis via cyclin E/A expression; this MLL1 processing is facilitated by prior CKII phosphorylation near the cleavage site (PMID:30573454, PMID:25267403). Through cleavage of the general transcription factor TFIIA, Taspase1 governs craniofacial morphogenesis—uncleaved TFIIA accumulates at the Cdkn2a (p16Ink4a/p19Arf) promoters to repress proliferation—and is the principal substrate event for fetal liver hematopoietic stem cell self-renewal and correct axial skeletal segmental identity (PMID:25664857, PMID:34156981). Beyond gene regulation, Taspase1 cleaves the DNA polymerase ζ catalytic subunit REV3L to protect it from ubiquitin-proteasome degradation, supporting cellular responses to UV and cisplatin lesions, and processes the unconventional myosin Myo1f to antagonize filopodia formation (PMID:32064513, PMID:35601920). In humans, homozygous loss-of-function and active-site missense (p.Thr234Met) variants in TASP1 cause a developmental syndrome with failure to activate KMT2A and KMT2D, downregulation of HOX genes, and a DNA methylation signature intermediate between control and Kabuki syndrome (PMID:31209944, PMID:35512351).

Mechanistic history

Synthesis pass · year-by-year structured walk · 9 steps
  1. 2008 Medium

    Established an upstream transcriptional input to TASP1, showing it is a HNF4alpha target gene induced in hepatocellular carcinoma, linking its expression to a liver oncogenic program.

    Evidence ChIP, EMSA, qRT-PCR and IHC in mouse and human HCC

    PMID:18395097

    Open questions at the time
    • Does not address Taspase1 enzymatic function
    • No demonstration that TASP1 induction is required for HCC phenotypes
  2. 2014 High

    Identified MLL1 as the functionally decisive Taspase1 substrate in an oncogenic context, showing that MLL cleavage enables cyclin E/A expression required for HER2/neu mammary tumorigenesis.

    Evidence Conditional Tasp1 knockout and noncleavable MLL knockin mice with cell-line rescue

    PMID:25267403

    Open questions at the time
    • Does not resolve which substrates dominate in non-tumor tissues
    • Mechanism of how uncleaved MLL alters cyclin promoters not fully detailed
  3. 2015 High

    Resolved substrate specificity in development by showing TFIIA, not MLL, is the principal Taspase1 substrate driving craniofacial morphogenesis through Cdkn2a-dependent control of proliferation.

    Evidence Genetic epistasis with Cdkn2a compound mutants, substrate-specific noncleavable knockins, and promoter ChIP in mice

    PMID:25664857

    Open questions at the time
    • Does not establish how uncleaved TFIIA selectively activates p16/p19 promoters
    • Tissue-specific substrate hierarchy outside craniofacial structures unaddressed
  4. 2018 High

    Defined the regulatory mechanism of MLL1 cleavage, showing CKII phosphorylation primes MLL1 and that Taspase1 cleavage destabilizes MLL1 and restricts its chromatin binding, with consequences for leukemic MLL chimeras.

    Evidence Taspase1 KO, chromatin fractionation/ChIP, CKII pharmacological inhibition, MLL-AF9 mouse leukemia model

    PMID:30573454

    Open questions at the time
    • Whether CKII priming applies to other substrates not tested
    • Quantitative contribution of MLL1 displacement to leukemia outcome unresolved
  5. 2018 Medium

    Provided cross-species evidence that the Taspase1 ortholog regulates transcription factor abundance, with C. elegans tasp-1 loss modestly increasing the endoderm GATA factor ELT-2.

    Evidence Genetic suppressor screen with RNAi and CRISPR/Cas9 validation in C. elegans

    PMID:29593072

    Open questions at the time
    • Whether ELT-2 is a direct cleavage substrate not determined
    • Effect size is modest and mechanism inferred rather than biochemical
  6. 2019 Medium

    Connected TASP1 loss to a human Mendelian disease, identifying active-site and loss-of-function variants and placing Taspase1 upstream of KMT2A/KMT2D activation, phenocopying Wiedemann-Steiner and Kabuki syndromes.

    Evidence Whole-exome sequencing with active-site missense (p.Thr234Met) and clinical phenotype comparison

    PMID:31209944

    Open questions at the time
    • No biochemical reconstitution of variant catalytic defects in this study
    • Relative contribution of KMT2A vs KMT2D to the human phenotype not separated
  7. 2020 High

    Expanded the substrate repertoire beyond transcription to DNA damage tolerance, showing Taspase1 cleaves REV3L (Pol ζ catalytic subunit) to shield it from proteasomal degradation and sustain UV/cisplatin lesion responses.

    Evidence In vitro cleavage assay, endogenous knockin point mutations in HCT116, ubiquitination and DNA damage response assays

    PMID:32064513

    Open questions at the time
    • How cleavage protects against ubiquitination mechanistically unclear
    • In vivo relevance of REV3L cleavage not established
  8. 2022 Medium

    Characterized the human disease at molecular resolution, showing TASP1 loss downregulates HOX genes, dysregulates TFIIA, and produces a distinct DNA methylation signature, with zebrafish KO reproducing cranial cartilage defects.

    Evidence Western blot, RNA-seq, proteomics and methylome of patient fibroblasts plus zebrafish CRISPR knockout

    PMID:35512351

    Open questions at the time
    • Causal chain from TFIIA dysregulation to HOX downregulation not dissected
    • Each omics arm is a single experiment
  9. 2022 Medium

    Added a cytoskeletal dimension by identifying the nucleo-cytoplasmic shuttle myosin Myo1f as a Taspase1 substrate whose cleavage antagonizes filopodia formation and migration.

    Evidence Co-IP/pulldown substrate identification, cleavage assays, live-cell filopodia imaging, and nuclear fractionation

    PMID:35601920

    Open questions at the time
    • Reciprocal validation and structural cleavage site mapping limited
    • Physiological significance of the macrophage/monocyte correlation untested

Open questions

Synthesis pass · forward-looking unresolved questions
  • How Taspase1 selects among its substrates in a given tissue, and what governs its substrate hierarchy beyond CKII priming of MLL1, remains unresolved.
  • No unifying rule for substrate prioritization across tissues
  • Structural basis of cleavage-site recognition not described in the corpus
  • Regulation of Taspase1 activity beyond HNF4alpha transcriptional control and CKII priming unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140096 catalytic activity, acting on a protein 5 GO:0016787 hydrolase activity 2
Localization
GO:0005634 nucleus 2
Pathway
R-HSA-392499 Metabolism of proteins 3 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-1266738 Developmental Biology 2 R-HSA-73894 DNA Repair 1

Evidence

Reading pass · 10 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2018 Taspase1-dependent proteolytic cleavage of MLL1 destabilizes MLL1; loss of taspase1 increases uncleaved MLL1 stability and its association with chromatin, displacing MLL chimeras in leukemic cells. Casein kinase II (CKII) phosphorylates MLL1 proximal to the taspase1 cleavage site, facilitating cleavage; pharmacological CKII inhibition blocks MLL1 processing and increases MLL1 stability. Genetic loss-of-function (taspase1 KO), chromatin fractionation/ChIP, pharmacological inhibition (CKII inhibitor), in vivo MLL-AF9 mouse leukemia model Genes & development High 30573454
2014 Taspase1 cleaves MLL1 in vivo; this cleavage is required for MMTV-neu-driven breast tumorigenesis by enabling expression of cyclins E and A. Mice with homozygous noncleavable MLL alleles (MLL-nc/nc) are protected from HER2/neu-driven mammary tumor formation, establishing MLL as the primary Taspase1 substrate in this oncogenic axis. Conditional knockout mice (MMTV-neu;MMTV-cre;Tasp1(F/-)), transgenic knockin of noncleavable MLL (MLL-nc/nc), knockdown-rescue experiments in HER2+ cell lines Cell research High 25267403
2015 Taspase1-mediated cleavage of TFIIA is the principal substrate event orchestrating craniofacial morphogenesis. Loss of TASP1 causes catastrophic craniofacial malformations; uncleaved TFIIA accumulates at p16Ink4a and p19Arf promoters and drives their transcription, limiting cell proliferation. Genetic reduction of Cdkn2a (especially p16Ink4a) markedly rescues craniofacial anomalies in TASP1-deficient mice. Genetic epistasis (Tasp1 KO × Cdkn2a KO compound mutants), knockin of noncleavable TASP1 substrates (TFIIA vs. MLL), ChIP analysis of p16/p19 promoters The Journal of clinical investigation High 25664857
2021 Taspase1-mediated cleavage of TFIIAα-β (rather than MLL1 or MLL2) is required for proper fetal liver hematopoietic stem cell self-renewal/quiescence and correct segmental identities of the axial skeleton in mouse embryos. Noncleavable TFIIAα-β knockin mice displayed more pronounced fetal liver and axial skeleton defects than noncleavable MLL1 or MLL2 knockins. Genetic deletion (Tasp1 KO), substrate-specific noncleavable knockin mice (TFIIAα-β, MLL1, MLL2), phenotypic comparison of embryonic hematopoiesis and skeletal segmentation JCI insight High 34156981
2020 TASP1 (Taspase1) cleaves REV3L, the catalytic subunit of DNA polymerase ζ, generating an N-terminal 70-kDa fragment and a C-terminal polymerase catalytic domain fragment. This proteolytic cleavage prevents ubiquitination and proteasome-mediated degradation of REV3L, thereby stabilizing it. Endogenous REV3L point mutations that compromise TASP1 cleavage markedly impair cellular responses to UV and cisplatin-induced DNA lesions. In vitro cleavage assay, endogenous knockin point mutations (HCT116), ubiquitination assay, DNA damage response assays (UV, cisplatin) Nucleic acids research High 32064513
2022 Taspase1 (TASP1) cleaves the unconventional myosin Myo1f. Myo1f is a nucleo-cytoplasmic shuttle protein processed by nuclear Taspase1, and Myo1f promotes filopodia formation, cellular adhesion, and migration. Taspase1-mediated proteolysis of Myo1f antagonizes filopodia formation; inverse correlation between Myo1f concentration and TASP1 expression was observed in macrophages versus monocytes. Co-IP/pulldown to identify Myo1f as substrate, cleavage assays, live-cell imaging of filopodia, knockdown/overexpression experiments, nuclear fractionation iScience Medium 35601920
2019 Homozygous loss-of-function variants in TASP1 (including active-site missense p.Thr234Met, deletion of exons 5-11, and nonsense p.Arg67*) cause a recognizable developmental syndrome. TASP1 encodes taspase1, which activates KMT2A and KMT2D (histone methyltransferases) by proteolytic cleavage. Loss of TASP1 function phenocopies aspects of Wiedemann-Steiner (KMT2A) and Kabuki (KMT2D) syndromes, consistent with TASP1 acting upstream of these methyltransferases. Whole-exome sequencing, active-site missense variant in patients (p.Thr234Met affects catalytic residue), clinical phenotype comparison with KMT2A/KMT2D syndrome patients Human mutation Medium 31209944
2022 TASP1 deficiency leads to HOX gene downregulation (HOXA4, HOXA7, HOXA1, HOXB2) and dysregulation of transcription factor TFIIA in patient fibroblasts (by western blot, RNA-seq, and proteomics). TASP1 loss produces a distinct DNA methylation profile intermediate between control and Kabuki syndrome (KMT2D) profiles. Zebrafish tasp1 knockout caused smaller head size and abnormal cranial cartilage formation. Western blot (absence of TASP1 protein), RNA-seq, proteomics from patient fibroblasts, methylome analysis, zebrafish CRISPR knockout Human molecular genetics Medium 35512351
2018 The C. elegans tasp-1 gene (ortholog of TASP1) modulates levels of ELT-2 protein in the early endoderm; loss of tasp-1 leads to modest increases in ELT-2 levels, consistent with a role in regulating transcription factor abundance. tasp-1 was identified as a suppressor of a lethal end-1 end-3 mutation, verified by RNAi and CRISPR/Cas9. Genetic suppressor screen, RNAi, CRISPR/Cas9 loss-of-function in C. elegans G3 (Bethesda, Md.) Medium 29593072
2008 HNF4alpha splice variants transcriptionally regulate TASP1 expression; TASP1 is a downstream target of HNF4alpha in hepatocellular carcinoma, with induced expression in mouse and human HCCs, identified by chromatin immunoprecipitation followed by cloning/sequencing, EMSA, and qRT-PCR. Chromatin immunoprecipitation (ChIP), EMSA, qRT-PCR, Western blotting, immunohistochemistry Gastroenterology Medium 18395097

Source papers

Stage 0 corpus · 25 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2020 TASP1 Promotes Gallbladder Cancer Cell Proliferation and Metastasis by Up-regulating FAM49B via PI3K/AKT Pathway. International journal of biological sciences 31 32071545
2018 Regulation of MLL/COMPASS stability through its proteolytic cleavage by taspase1 as a possible approach for clinical therapy of leukemia. Genes & development 29 30573454
2014 Taspase1 cleaves MLL1 to activate cyclin E for HER2/neu breast tumorigenesis. Cell research 28 25267403
2008 EPS15R, TASP1, and PRPF3 are novel disease candidate genes targeted by HNF4alpha splice variants in hepatocellular carcinomas. Gastroenterology 28 18395097
2021 Neoantigen-reactive T cells exhibit effective anti-tumor activity against colorectal cancer. Human vaccines & immunotherapeutics 27 33689574
2022 Disorders of histone methylation: Molecular basis and clinical syndromes. Clinical genetics 23 35713103
2015 Taspase1-dependent TFIIA cleavage coordinates head morphogenesis by limiting Cdkn2a locus transcription. The Journal of clinical investigation 22 25664857
2015 Taspase 1: A protease with many biological surprises. Molecular & cellular oncology 21 27308523
2021 Genome-Wide Association Study Provides Insights into Important Genes for Reproductive Traits in Nelore Cattle. Animals : an open access journal from MDPI 17 34068162
2015 Integrative Analysis of the Developing Postnatal Mouse Heart Transcriptome. PloS one 15 26200114
2021 Genome-wide association studies demonstrate that TASP1 contributes to increased muscle fiber diameter. Heredity 14 33767369
2019 Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies. Human mutation 11 31209944
2018 TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies. Clinical genetics 11 29633245
2023 Developmental reprogramming of myometrial stem cells by endocrine disruptor linking to risk of uterine fibroids. Cellular and molecular life sciences : CMLS 9 37650943
2022 Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Human molecular genetics 7 35512351
2021 TASP1 Promotes Proliferation and Migration in Gastric Cancer via EMT and AKT/P-AKT Pathway. Journal of immunology research 7 34012990
2020 Site-specific proteolytic cleavage prevents ubiquitination and degradation of human REV3L, the catalytic subunit of DNA polymerase ζ. Nucleic acids research 7 32064513
2019 TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia. Molecular genetics & genomic medicine 6 31350873
2024 Identification and map-based cloning of an EMS-induced mutation in wheat gene TaSP1 related to spike architecture. TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik 5 38709271
2022 The Taspase1/Myosin1f-axis regulates filopodia dynamics. iScience 5 35601920
2021 Taspase1 orchestrates fetal liver hematopoietic stem cell and vertebrae fates by cleaving TFIIA. JCI insight 5 34156981
2023 Circ_0059457 Promotes Proliferation, Metastasis, Sphere Formation and Glycolysis in Breast Cancer Cells by Sponging miR-140-3p to Regulate UBE2C. Biochemical genetics 4 37284894
2018 A Strategy To Isolate Modifiers of Caenorhabditis elegans Lethal Mutations: Investigating the Endoderm Specifying Ability of the Intestinal Differentiation GATA Factor ELT-2. G3 (Bethesda, Md.) 3 29593072
2023 Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorder. European journal of medical genetics 1 37474017
2026 Enhancing cancer classification accuracy with a self-attention network using panel capture sequencing data. Briefings in bioinformatics 0 41870130

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