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Showing POLR2MGDOWN1 is a alias.

POLR2M

DNA-directed RNA polymerase II subunit GRINL1A · UniProt P0CAP2

Length
368 aa
Mass
41.7 kDa
Annotated
2026-06-10
15 papers in source corpus 11 papers cited in narrative 11 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

POLR2M (Gdown1) is a substoichiometric, intrinsically disordered subunit of RNA polymerase II that represses transcription by sterically gating the polymerase's interactions with general factors (PMID:22244331, PMID:30190596). It binds Pol II through cooperative contacts that occlude the binding sites of both TFIIF and TFIIB, with structural mapping placing it on the RPB5 shelf–RPB1 jaw region directly overlapping the TFIIF footprint (PMID:22850672, PMID:30190596). Functionally, Gdown1 blocks TFIIF-stimulated elongation and inhibits TTF2-mediated termination, and it stabilizes promoter-proximally paused Pol II while remaining responsive to P-TEFb, which overcomes the block; genome-wide it co-localizes with essentially all poised Pol II (PMID:22244331). These two repressive activities map to separable domains—an N-terminal domain bearing a conserved LPDKG motif that blocks TTF2 and a C-terminal domain that blocks TFIIF—both required for tight Pol II association (PMID:24634214). Gdown1 cannot load onto preinitiation complexes or open complexes; efficient association occurs only after promoter clearance and reannealing of the upstream transcription bubble in early elongation complexes, where it slowly displaces TFIIF to lock in the paused state downstream of pause initiation by DSIF and NELF (PMID:24596085, PMID:27716820). In vivo, Gdown1 associates with elongating Pol II on highly expressed genes, and its hepatocyte-specific loss reduces Pol II recruitment to metabolic genes and triggers cell-cycle re-entry and, absent p53, premalignant transformation (PMID:32381628). Its activity is spatially and temporally controlled: Ser-270 phosphorylation during mitosis lowers Pol II affinity and relieves repression (PMID:24634214), while in interphase Gdown1 is held in the cytoplasm by CRM1-dependent nuclear export and a cytoplasmic anchoring signal, entering the nucleus at mitotic onset and upon oxidative stress to repress global transcription and support stress tolerance (PMID:36476745, PMID:35048979). POLR2M was also identified as an epigenetic silencing factor for the MIR139 tumor-suppressor locus in MLL-AF9 AML (PMID:34741119).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 2012 High

    Established that Gdown1 is a transcriptional repressor that stabilizes promoter-proximal pausing by antagonizing TFIIF-stimulated elongation while remaining a target for P-TEFb-mediated release.

    Evidence In vitro transcription assays, ChIP-Seq, and biochemical competition with purified factors in human systems

    PMID:22244331 PMID:22244332

    Open questions at the time
    • Did not resolve the structural basis of TFIIF competition
    • Did not establish how Gdown1 is loaded onto Pol II in vivo
  2. 2012 High

    Resolved where Gdown1 sits on Pol II, mapping it to the RPB5 shelf–RPB1 jaw region overlapping the TFIIF footprint and explaining the steric exclusion mechanism.

    Evidence Single-particle cryo-EM with antibody labeling and size-exclusion competition assays

    PMID:22850672

    Open questions at the time
    • Low resolution (~19 Å) limited atomic interpretation
    • Did not address TFIIB occlusion
  3. 2014 High

    Dissected Gdown1 into separable TTF2-blocking (N-terminal LPDKG) and TFIIF-blocking (C-terminal) domains and identified mitotic Ser-270 phosphorylation as a switch that releases repression.

    Evidence In vitro transcription, deletion and site-directed mutagenesis, partial kinase purification, and mass spectrometry

    PMID:24634214

    Open questions at the time
    • Did not identify the physiological mitotic kinase definitively
    • In vivo consequences of S270 phosphorylation not tested
  4. 2014 High

    Showed Gdown1 is excluded from TFIIF-containing PICs but can engage Pol II during early elongation, defining a TFIIF-phosphorylation-gated loading pathway.

    Evidence In vitro reconstitution with purified factors and TFIIF phosphorylation

    PMID:24596085

    Open questions at the time
    • Did not identify the kinase phosphorylating TFIIF in vivo
    • Timing relative to other elongation factors unresolved
  5. 2016 Medium

    Defined the precise transcription stage at which Gdown1 loads, showing engagement requires bubble reannealing in early elongation complexes and that it locks in a pause initiated by other factors.

    Evidence In vitro transcription with promoter variants and timed competition assays

    PMID:27716820

    Open questions at the time
    • Single lab, single study
    • Did not directly test DSIF/NELF dependence in the same assay
  6. 2018 High

    Provided an integrative structural model showing Gdown1 occludes both TFIIF and TFIIB sites via cooperative binding, and demonstrated a physiological repressive role through Pol II co-localization in transcriptionally silent Drosophila nuclei.

    Evidence Cross-linking/MS, SAXS, negative-stain EM, mutagenesis, and immunofluorescence in Drosophila embryos

    PMID:30190596

    Open questions at the time
    • Disordered regions limit high-resolution structure
    • Mechanism linking nuclear localization to genome activation not resolved
  7. 2020 High

    Established an in vivo physiological function, showing Gdown1 supports expression of and associates with elongating Pol II on highly expressed metabolic genes and restrains cell-cycle re-entry via p53.

    Evidence Hepatocyte-specific conditional knockout mouse with ChIP, expression profiling, and p53 epistasis

    PMID:32381628

    Open questions at the time
    • Mechanism by which a repressor supports high gene expression unclear
    • Tissue specificity of these effects not generalized
  8. 2021 Medium

    Implicated POLR2M in an epigenetic silencing pathway, identifying it as a regulator of MIR139 silencing downstream of MLL-AF9 and PRC2 in AML.

    Evidence Genome-wide CRISPR-Cas9 knockout screen with genetic validation in human AML cell lines

    PMID:34741119

    Open questions at the time
    • Mechanism of how POLR2M mediates MIR139 silencing not resolved
    • Connection to its Pol II pausing role not established
  9. 2022 High

    Defined the spatial control of Gdown1, showing CRM1-dependent export and a cytoplasmic anchoring signal sequester it in interphase, with nuclear entry upon oxidative stress driving global transcriptional repression and stress tolerance.

    Evidence NES/CAS mutagenesis, CRM1 inhibition, live-cell imaging, and oxidative stress assays in human cells

    PMID:36476745

    Open questions at the time
    • Molecular nature of the CAS anchor unknown
    • Signal coupling stress to nuclear import unresolved
  10. 2022 High

    Showed Gdown1 enters the nucleus at mitotic onset to repress mitotic transcription and modulates a panel of elongation factors, linking its repression to mitotic fidelity and p53.

    Evidence Acute and KO depletion, imaging, multi-omics, and in vitro reconstitution with PAF1C, RTF1, SPT6, DSIF, and P-TEFb

    PMID:35048979

    Open questions at the time
    • Minimal interphase transcription effect leaves its main interphase role unclear
    • How it integrates multiple elongation factors mechanistically not resolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How Gdown1's biochemical pausing/repression activity is reconciled with its in vivo requirement for high-level gene expression and its role in epigenetic locus silencing remains unresolved.
  • No unified model linking pausing, mitotic repression, and supporting high gene expression
  • Mechanism of MIR139 silencing undefined
  • Identity of physiological mitotic and TFIIF kinases unconfirmed

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 3 GO:0140110 transcription regulator activity 3
Localization
GO:0005829 cytosol 3 GO:0005634 nucleus 2
Pathway
R-HSA-74160 Gene expression (Transcription) 3 R-HSA-8953897 Cellular responses to stimuli 1
Complex memberships
RNA polymerase II

Evidence

Reading pass · 11 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2012 Gdown1 specifically blocks elongation stimulation by TFIIF in vitro, inhibits the termination activity of TTF2, and stabilizes promoter-proximally paused Pol II in the presence of nuclear extract. P-TEFb can overcome the Gdown1-mediated block, and ChIP-Seq confirms Gdown1 co-localizes with essentially all poised Pol II across the human genome. In vitro transcription assays, ChIP-Seq Molecular cell High 22244331
2012 Gdown1 competes with TFIIF for binding to the RPB1 and RPB5 subunits of Pol II, inhibiting TFIIF function in preinitiation complex assembly. Mediator can facilitate Pol II(G) binding to promoters and overcome the Gdown1-mediated block, establishing Pol II(G) as a Mediator-dependent form of Pol II. In vitro transcription with purified factors, ChIP, RNAi Molecular cell High 22244332
2012 Cryo-EM maps of RNAPII(G) at ~19 Å localized Gdown1 primarily to the RPB5 shelf–RPB1 jaw region of Pol II, with Gdown1 binding sites overlapping extensively with TFIIF binding sites. Competition assays by size exclusion chromatography confirmed that Gdown1 sterically excludes TFIIF from RNAPII. Single-particle cryo-EM, antibody labeling, size exclusion chromatography competition assays The EMBO journal High 22850672
2014 Two functional domains of Gdown1 were identified: the N-terminal domain is responsible for blocking TTF2 (via a conserved LPDKG motif) and the C-terminal domain blocks TFIIF. Both domains are required for tight Pol II association. Gdown1 is phosphorylated at Ser-270 during mitosis, which reduces its affinity for Pol II and consequently reduces its ability to block both TTF2 and TFIIF. An S270A mutation abolishes this phosphorylation and S270E partially mimics phospho-Gdown1. In vitro transcription assays, deletion mutagenesis, partial purification of a mitotic kinase from HeLa nuclear extract, mass spectrometry, site-directed mutagenesis (S270A, S270E) The Journal of biological chemistry High 24634214
2014 Gdown1 does not functionally associate with Pol II preinitiation complexes (PICs) that contain TFIIF, despite completely displacing TFIIF from free Pol II and elongating Pol II. Gdown1 can associate with Pol II during early transcript elongation in competition with TFIIF; phosphorylation of TFIIF provides a pathway for efficient Gdown1 loading early in elongation. In vitro transcription with purified factors, phosphorylation of TFIIF, functional association assays The Journal of biological chemistry High 24596085
2016 Gdown1 cannot functionally associate with Pol II in open complexes or during abortive synthesis of very short RNAs. Efficient Gdown1 association occurs only after the upstream portion of the transcription bubble reanneals (early elongation complexes with 5–9 nt RNAs), and Gdown1 displaces TFIIF slowly (~5 min), suggesting Gdown1 locks in the paused state after pausing has already been initiated by other factors (DSIF, NELF). In vitro transcription assays with promoter variants, timed competition assays with purified Gdown1 and TFIIF PloS one Medium 27716820
2018 Although Gdown1 is intrinsically disordered, its Pol II-interacting domains were mapped and shown to occlude both TFIIF and TFIIB binding sites on Pol II. Robust Pol II binding requires cooperative interactions of a strong binding region and two weaker modulatory regions. In Drosophila embryos, Gdown1 co-localizes with Pol II in transcriptionally silent nuclei but re-localizes to the cytoplasm upon zygotic genome activation, demonstrating a physiological role in transcription repression. Integrative structural modeling (cross-linking/MS, SAXS, negative-stain EM), domain mutagenesis, immunofluorescence in Drosophila embryos Nature structural & molecular biology High 30190596
2020 Hepatocyte-specific ablation of Gdown1 in mice leads to down-regulation of highly expressed metabolic genes (plasma protein synthesis), reduced Pol II recruitment to these genes, and concomitant cell cycle re-entry with induction of cyclin D1 and p21 via p53 signaling. In the absence of p53, Gdown1-deficient hepatocytes display dysregulated mitosis and premalignant transformation. Gdown1 is associated with elongating (not initiating) Pol II on these highly expressed genes in vivo. Hepatocyte-specific conditional knockout mouse, ChIP, gene expression profiling, p53 pathway analysis Genes & development High 32381628
2022 Gdown1 localizes predominantly in the cytoplasm of interphase somatic cells, regulated by CRM1-dependent nuclear export signals (NES) and a novel cytoplasmic anchoring signal (CAS) that retains it outside the nuclear pore complex. Mutagenesis of CAS increases nuclear Gdown1 accumulation, causing a drastic reduction in Pol II levels and global transcription. Gdown1 translocates to the nucleus in response to oxidative stress, and Gdown1 ablation weakens cellular stress tolerance. Mutagenesis of NES and CAS, live-cell microscopy/immunofluorescence, CRM1 inhibition, global transcription assays, oxidative stress experiments in human cell lines eLife High 36476745
2022 Gdown1 resides predominantly in the cytoplasm of interphase cells and enters the nucleus at mitotic onset. Acute depletion of Gdown1 in human cell lines has minimal direct effects on interphase transcription but is associated with partial de-repression of mitotic transcription and aberrant mitoses coupled to p53 pathway activation. In vitro, Gdown1 modulates the combined functions of elongation factors PAF1C, RTF1, SPT6, DSIF, and P-TEFb. Genetic depletion (acute and KO), microscopy, multi-omics (ChIP-seq, RNA-seq), in vitro reconstitution with purified elongation factors Nucleic acids research High 35048979
2021 A genome-wide CRISPR-Cas9 knockout screen identified POLR2M as a regulatory factor for MIR139 silencing in MLL-AF9 AML, operating downstream of MLL-AF9 and PRC2. POLR2M knockout de-repressed MIR139 expression, placing POLR2M in the epigenetic silencing pathway for this tumor suppressor locus. Genome-wide CRISPR-Cas9 knockout screen, genetic validation in human AML cell lines Leukemia Medium 34741119

Source papers

Stage 0 corpus · 15 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2012 Functional association of Gdown1 with RNA polymerase II poised on human genes. Molecular cell 109 22244331
2012 Transcriptional regulation by Pol II(G) involving mediator and competitive interactions of Gdown1 and TFIIF with Pol II. Molecular cell 60 22244332
2018 Architecture of Pol II(G) and molecular mechanism of transcription regulation by Gdown1. Nature structural & molecular biology 27 30190596
2012 Regulation of mammalian transcription by Gdown1 through a novel steric crosstalk revealed by cryo-EM. The EMBO journal 24 22850672
2014 Regulation of RNA polymerase II termination by phosphorylation of Gdown1. The Journal of biological chemistry 22 24634214
2021 The tumor suppressor MIR139 is silenced by POLR2M to promote AML oncogenesis. Leukemia 13 34741119
2016 Gdown1 Associates Efficiently with RNA Polymerase II after Promoter Clearance and Displaces TFIIF during Transcript Elongation. PloS one 13 27716820
2021 GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy. Frontiers in genetics 11 34899865
2014 Functional interactions of the RNA polymerase II-interacting proteins Gdown1 and TFIIF. The Journal of biological chemistry 11 24596085
2012 Get back TFIIF, don't let me Gdown1. Molecular cell 11 22244325
2022 Nuclear export restricts Gdown1 to a mitotic function. Nucleic acids research 6 35048979
2022 Overcoming the cytoplasmic retention of GDOWN1 modulates global transcription and facilitates stress adaptation. eLife 6 36476745
2012 Gdown1: making a link between mediator and RNA polymerase II elongation control. Transcription 6 22771989
2020 Transcriptional down-regulation of metabolic genes by Gdown1 ablation induces quiescent cell re-entry into the cell cycle. Genes & development 4 32381628
2020 Regulation of hepatocyte cell cycle re-entry by RNA polymerase II-associated Gdown1. Cell cycle (Georgetown, Tex.) 3 33238793

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