Affinage

KMT5B

Histone-lysine N-methyltransferase KMT5B · UniProt Q4FZB7

Length
885 aa
Mass
99.2 kDa
Annotated
2026-06-10
33 papers in source corpus 19 papers cited in narrative 19 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

KMT5B (SUV420H1) is a histone lysine methyltransferase that converts H4K20me1 to H4K20me2/3 and operates at the interface of chromatin state, DNA damage response, cell cycle control, and tissue homeostasis (PMID:24396869, PMID:29616094, PMID:34007043). Structural work defines its catalytic logic: a conserved serine hydrogen-bonds the target lysine to cap methylation at the dimethyl level, and the enzyme recognizes monomethylated H4K20 through a defined sequence motif while preferring nucleosomal over peptide substrates (PMID:24396869, PMID:27105552). Cryo-EM structures show the enzyme grips the H4 N-terminal tail in a lasso that projects H4K20 into the active site, anchors to nucleosomal DNA and the H2A/H2B acidic patch via C-terminal arginine anchors, and uses a KR loop to read H2A.Z-specific residues, which stimulates H4K20me2 deposition (PMID:37536340, PMID:38052811). Beyond catalysis, KMT5B exerts non-catalytic activities—detaching nucleosomal DNA from the octamer and promoting chromatin condensation—such that deletion and enzymatic inhibition produce distinct phenotypes (PMID:37595555, PMID:41473330). Through H4K20me2, KMT5B supports 53BP1-mediated double-strand break repair, and its loss elevates p53 and DDR effectors (DDIT4, γH2AX) (PMID:34007043, PMID:41442178). It acts as a locus-specific transcriptional repressor, binding and silencing the p21WAF1/CIP1 promoter to permit G1-to-S transition and repressing Sod3 in cardiopulmonary progenitors (PMID:29616094, PMID:34247492). KMT5B is also required for ciliogenesis in multiciliated cells, where H4K20me1-to-me2 conversion drives a transcriptional program independent of the canonical multicilin pathway (PMID:37116939, PMID:41946567), and for satellite-cell self-renewal and myogenic gene regulation (PMID:23720823, PMID:27488816). De novo missense variants that destabilize KMT5B or impair catalysis disrupt neuronal dendritic morphology, cortical progenitor proliferation, and synaptic function, linking KMT5B to a neurodevelopmental disorder (PMID:35331928, PMID:41442178).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 2013 High

    Established the structural and catalytic basis for why KMT5B is a product-specific H4K20 dimethyltransferase rather than a trimethylase, resolving how methylation state is constrained.

    Evidence X-ray crystallography of SUV420H1–SAM complex with in vitro methyltransferase assays

    PMID:24396869

    Open questions at the time
    • Used peptide/free substrate context; nucleosomal recognition not resolved
    • Did not define cellular targets or biological role
  2. 2016 High

    Defined the substrate recognition motif and tested candidate non-histone substrates, establishing strict preference for monomethylated H4K20 and identifying CASZ1 K1423 while excluding ERK1 as a substrate.

    Evidence In vitro methylation assays and SPOT peptide arrays

    PMID:27105552

    Open questions at the time
    • Functional consequence of CASZ1 methylation not established
    • Peptide-array context may not capture full nucleosomal specificity
  3. 2015 Low

    Reported KMT5B as an ERK1 methyltransferase regulating ERK1 phosphorylation in cancer, a claim contradicted by subsequent in vitro work.

    Evidence In vitro methyltransferase assay, ERK1 site mutagenesis, and siRNA knockdown

    PMID:26586479

    Open questions at the time
    • Directly contradicted by Weirich et al. 2016, which failed to detect ERK1 methylation
    • Single lab, not independently confirmed
  4. 2010 Medium

    Showed that KMT5B isoforms differ in subcellular targeting and chromatin output, with HP1α directing heterochromatic isoforms to pericentromeres, linking enzyme localization to differential H4K20me3 deposition and myogenic gene control.

    Evidence Immunofluorescence, HP1α co-expression, and overexpression in C2C12 myoblasts

    PMID:21206904

    Open questions at the time
    • Based on exogenous overexpression rather than endogenous protein
    • Mechanism of isoform-specific post-transcriptional control unresolved
  5. 2013 Medium

    Identified FRG1 as a direct inhibitory binding partner that suppresses KMT5B methyltransferase activity, placing the enzyme in a myogenic regulatory pathway with in vivo dystrophic consequences.

    Evidence Reciprocal Co-IP, in vitro methyltransferase assay, knockdown, and KO mouse genetics

    PMID:23720823

    Open questions at the time
    • FRG1 interaction shown under overexpression
    • KO mouse phenotype reflects combined Suv4-20h loss
  6. 2018 Medium

    Demonstrated locus-specific transcriptional repression by KMT5B at the p21WAF1/CIP1 promoter, mechanistically connecting H4K20 methylation to G1-to-S cell cycle progression.

    Evidence siRNA knockdown, ChIP, and cell cycle analysis in K562 cells

    PMID:29616094

    Open questions at the time
    • Single cell line
    • Direct vs. indirect contribution of methylation to p21 silencing not separated
  7. 2019 Medium

    Mapped how somatic cancer mutations differentially affect catalysis on peptide versus nucleosome substrates, revealing that nucleosomal contacts allosterically tune KMT5B activity.

    Evidence Systematic mutagenesis with peptide and nucleosome methyltransferase assays plus cellular validation

    PMID:31255706

    Open questions at the time
    • Structural basis of allosteric activation not directly visualized in this study
    • Single lab
  8. 2021 High

    Established KMT5B as an in vivo transcriptional repressor of Sod3 in cardiopulmonary progenitors, linking its loss to redox imbalance and a COPD/pulmonary hypertension-like phenotype.

    Evidence Conditional KO mouse, ChIP, SOD3/H2O2 biochemistry, histology and hemodynamics

    PMID:34247492

    Open questions at the time
    • Whether repression requires catalytic activity vs. non-catalytic functions not dissected
    • Tissue-specific to cardiopulmonary lineage
  9. 2021 Medium

    Connected KMT5B-dependent H4K20me2 to 53BP1-mediated DNA repair and downstream p53/Ddit4 signaling, providing a mechanism for synaptic and social-behavior deficits upon loss.

    Evidence In vivo shRNA knockdown in mouse prefrontal cortex with electrophysiology, Western blot, and RNA-seq

    PMID:34007043

    Open questions at the time
    • Causal chain from DNA repair defect to receptor downregulation inferred
    • Single lab in vivo system
  10. 2021 Medium

    Showed that satellite-cell KMT5B maintains H4K20me2 at the Myod regulatory element and nuclear-peripheral heterochromatin positioning required for stem-cell quiescence and self-renewal.

    Evidence Conditional satellite-cell KO with ChIP, FISH, and muscle regeneration assays (summarized in commentary)

    PMID:27488816

    Open questions at the time
    • Evidence drawn from a review summarizing the primary study
    • Relationship to facultative H3K27me3 mechanistically indirect
  11. 2022 Medium

    Demonstrated that KMT5B controls neuronal dendritic complexity, spine density, progenitor proliferation, and migration, and that pathogenic de novo variants are loss-of-function by rescue criteria.

    Evidence shRNA knockdown in primary neurons, in utero electroporation, and WT vs. mutant rescue

    PMID:35331928

    Open questions at the time
    • Molecular targets driving dendritic phenotypes not identified
    • Single lab
  12. 2023 High

    Resolved at near-atomic detail how KMT5B engages the nucleosome—H4 tail lasso, DNA, acidic patch, and a KR loop reading H2A.Z—explaining variant-specific catalytic defects and H2A.Z-stimulated H4K20me2 deposition.

    Evidence Independent cryo-EM structures on H2A- and H2A.Z-nucleosomes with mutagenesis and in vivo ChIP

    PMID:37536340 PMID:38052811

    Open questions at the time
    • Dynamics of H4 tail capture during turnover not fully resolved
    • In vivo significance of H2A.Z preference at specific loci still being mapped
  13. 2023 High

    Revealed catalysis-independent activities of KMT5B—nucleosomal DNA detachment and chromatin condensation—showing that deletion and enzymatic inhibition are not equivalent.

    Evidence Cryo-EM with biochemical/biophysical assays and cellular comparison of deletion vs. inhibition

    PMID:37595555

    Open questions at the time
    • Physiological contexts where non-catalytic activity dominates not delineated
    • How DNA detachment relates to condensation mechanistically unresolved
  14. 2023 Medium

    Established KMT5B as essential for axoneme formation in multiciliated cells via H4K20me1-to-me2 conversion, with PHF8 demethylase rescue pinpointing the methylation step.

    Evidence Morpholino knockdown in Xenopus with catalytic-mutant and PHF8 rescue plus transcriptome profiling

    PMID:37116939

    Open questions at the time
    • Direct ciliary gene targets of methylation not enumerated
    • Single model organism
  15. 2025 Medium

    Showed KMT5B drives a multiciliogenesis transcriptional program independent of the canonical multicilin pathway and without global chromatin compaction at ciliary loci.

    Evidence Morpholino knockdown in Xenopus with ATAC-seq, RNA-seq, and catalytic/multicilin rescue

    PMID:41946567

    Open questions at the time
    • Mechanism distinguishing KMT5B from the multicilin program unresolved
    • How methylation alters transcription without accessibility change unclear
  16. 2025 Medium

    Linked mutant p53(R280T)-driven KMT5B upregulation to enhanced DNA repair and chemoresistance, and showed disease-associated KMT5B variants destabilize the protein and impair the DNA damage response.

    Evidence ChIP for p53 promoter binding, knockdown and rescue, γH2AX/DDR readouts, and xenografts

    PMID:40316196 PMID:41442178

    Open questions at the time
    • Whether DDR role is catalytic or structural not separated
    • Single lab per study

Open questions

Synthesis pass · forward-looking unresolved questions
  • It remains unresolved how KMT5B's catalytic versus non-catalytic activities are partitioned across its diverse biological roles and which direct chromatin targets mediate each tissue-specific phenotype.
  • No unified map of catalytic vs. non-catalytic contributions per tissue
  • Direct genomic target catalogs incomplete outside a few loci
  • Non-histone substrate (CASZ1) function uncharacterized

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016740 transferase activity 4 GO:0003677 DNA binding 3 GO:0140110 transcription regulator activity 3 GO:0042393 histone binding 2
Localization
GO:0000228 nuclear chromosome 2 GO:0005634 nucleus 1
Pathway
R-HSA-4839726 Chromatin organization 3 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-73894 DNA Repair 2 R-HSA-1640170 Cell Cycle 1
Partners
53BP1FRG1HP1ΑTP53

Evidence

Reading pass · 19 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2013 Crystal structures of human SUV420H1 (KMT5B) and SUV420H2 in complex with SAM revealed a unique N-terminal domain and Zn-binding post-SET domain; both enzymes prefer monomethylated H4K20me1 as substrate and produce only dimethylated product in vitro; a conserved serine residue forms a hydrogen bond with the target lysine side-chain that limits methylation to the dimethyl level (no trimethylation detected). X-ray crystallography; radioactivity-based in vitro methyltransferase assay FEBS letters High 24396869
2016 In vitro SPOT peptide array analysis defined the substrate sequence recognition motif of SUV420H1 as (RY)-Kme1-(IVLM)-(LFI)-X-D, confirming strong preference for monomethylated H4K20 and production of only dimethylated product; novel non-histone substrates including K1423 of CASZ1 were identified for SUV420H1; SUV420H1 was found NOT to methylate ERK1 at K302/K361 under these conditions. In vitro methylation assay with peptide substrates; SPOT peptide array Journal of molecular biology High 27105552
2015 SUV420H1 was reported to trimethylate ERK1 at lysines 302 and 361 in cancer cells; substitution of these methylation sites diminished ERK1 phosphorylation; SUV420H1 knockdown reduced phosphorylated ERK1 protein and suppressed ERK1 at the transcriptional level. In vitro methyltransferase assay; site-directed mutagenesis of ERK1 methylation sites; siRNA knockdown with Western blot and qRT-PCR Oncotarget Low 26586479
2019 Eight somatic cancer mutations in SUV420H1 modulate its catalytic activity: group 1 mutations (S255F, K258E, A269V) reduce activity on both peptide and nucleosome substrates implicating roles in AdoMet binding and H4-D24 recognition; group 2 mutations (E238V, D249N, E320K) reduce peptide activity but are partially rescued on nucleosome substrates; group 3 mutations (S283L, S304Y) enhance activity on peptides but not nucleosomes, implicating nucleosomal contacts in allosteric activation; seven of eight mutations reduce cellular H4K20me2/3. In vitro methyltransferase assay on peptide and nucleosome substrates; cellular assays after mutant expression Journal of molecular biology Medium 31255706
2010 Two isoforms of SUV420H1 (i1 and i2) differ in subcellular localization: exogenous SUV420H1_i2 distributes throughout the nucleus independent of HP1α, while SUV420H1_i1 and SUV420H2 associate with constitutive heterochromatin and are further targeted to pericentromeric regions by HP1α co-expression. SUV420H1_i2 elevation increases global nuclear H4K20me3, whereas SUV420H1_i1/SUV420H2 preferentially increase pericentric H4K20me3. SUV420H1_i2 induces precocious myogenin expression, while SUV420H1_i1 cannot be expressed in C2C12 cells suggesting post-transcriptional/translational control. Immunofluorescence; co-expression with HP1α; overexpression in C2C12 myogenic model; immunoblot for H4K20me3 PloS one Medium 21206904
2013 SUV420H1 physically binds FRG1 (FSHD region gene 1) when FRG1 is overexpressed; this interaction inhibits Suv4-20h1 histone methyltransferase activity; Suv4-20h1 knockdown mimics FRG1 overexpression in blocking myogenesis; Suv4-20h KO mice develop muscular dystrophy-like signs; the FRG1/Suv4-20h1 target gene Eid3 was identified as a myogenic inhibitor downstream of this pathway. Co-immunoprecipitation; in vitro methyltransferase assay; siRNA knockdown; KO mouse model; genetic epistasis Journal of molecular cell biology Medium 23720823
2023 Cryo-EM structures of SUV420H1 bound to H2A.Z-nucleosome and H2A-nucleosome revealed that: (1) SUV420H1 contacts the H4 N-terminal tail (residues 1–24) in a lasso-shaped structure that projects H4K20 into the catalytic center; (2) SUV420H1 interacts with nucleosomal DNA and the acidic patch; (3) a KR loop (residues 214–223) of SUV420H1 contacts H2A.Z-specific residues D97/S98, providing the structural basis for preferential recognition of H2A.Z-nucleosome and enhanced H4K20me2 deposition. Cryo-EM structure determination; in vitro methyltransferase assay; mutagenesis of KR loop and H2A.Z-specific residues; in vivo ChIP Molecular cell High 37536340
2023 Cryo-EM structures of SUV420H1 on H2A- and H2A.Z-nucleosomes showed SUV420H1 makes extensive contacts with histone and DNA; the C-terminal domain uses two arginine anchors to engage the H2A-H2B acidic patch, enabling H4K20 insertion for catalysis; additional residues near the H2A.Z interface enhance catalytic activity on H2A.Z-NCPs; disease-associated mutations at interfaces impair catalytic activity and chromatin state regulation in vitro and in vivo. Cryo-EM; in vitro methyltransferase assay; mutagenesis; in vivo functional assays Cell discovery High 38052811
2023 Cryo-EM and biochemical analyses showed SUV420H1 binding to nucleosomes causes dramatic detachment of nucleosomal DNA from the histone octamer (a non-catalytic activity), and SUV420H1 can promote chromatin condensation (another non-catalytic activity); H2A.Z stimulates SUV420H1 catalytic activity; deletion and inhibition of SUV420H1 produce distinct phenotypes, supporting functionally significant non-catalytic roles. Cryo-EM; biochemical and biophysical assays; cellular assays comparing deletion versus catalytic inhibition Molecular cell High 37595555
2018 SUV420H1 (Suv4-20h1) directly binds the promoter of the p21WAF1/CIP1 gene and deposits H4K20 methylation there; knockdown of Suv4-20h1 in K562 cells causes G1 arrest accompanied by increased p21 expression, demonstrating a role in G1-to-S phase transition via epigenetic repression of p21. siRNA knockdown; chromatin immunoprecipitation (ChIP); cell cycle analysis; Western blot Oncology letters Medium 29616094
2021 SUV420H1 (Suv4-20h1) directly binds the 5′-upstream regulatory element of the Sod3 (superoxide dismutase 3) gene to repress its expression in cardiopulmonary progenitor cells; conditional Suv4-20h1 knockout in these progenitors causes increased SOD3 protein leading to elevated H2O2, vascular defects, impaired alveolarization, and a COPD-like/PH phenotype in mice. Conditional knockout mouse (Cre-lox); ChIP; biochemical assays for SOD3 and H2O2; histology and hemodynamic studies Circulation High 34247492
2021 Knockdown of Kmt5b in mouse prefrontal cortex reduces H4K20me2, which impairs 53BP1-mediated DNA repair, leading to elevated p53 and its target Ddit4 (Redd1), resulting in reduced synaptic expression of glutamate receptor subunits, deficits in glutamatergic synaptic transmission, and social behavior deficits. In vivo shRNA knockdown in mouse PFC; Western blot; immunofluorescence; electrophysiology; RNA-seq Neuropsychopharmacology Medium 34007043
2021 In vivo loss of Suv4-20h1 in skeletal muscle satellite cells abolishes H4K20me2 on the distal regulatory element of the Myod locus, relocating the Myod locus toward the nuclear center, reducing facultative H3K27me3-associated heterochromatin, and causing spontaneous satellite cell activation and failure of self-renewal upon muscle injury. Conditional knockout in satellite cells; immunofluorescence; ChIP; FISH; muscle injury/regeneration assay Stem cell investigation Medium 27488816
2022 In vitro knockdown of Kmt5b in mouse primary cortical neurons decreases dendritic complexity and increases dendritic spine density, effects rescued by wild-type human KMT5B but not by pathogenic de novo missense variants; in utero electroporation knockdown of Kmt5b in embryonic cerebral cortex reduces neural progenitor proliferation and accelerates migration. shRNA knockdown in primary neurons; in utero electroporation; morphological analysis (Sholl analysis, spine density); rescue with WT vs. mutant KMT5B Journal of genetics and genomics Medium 35331928
2023 Depletion of SUV420H1 alone in Xenopus embryos is sufficient to cause loss of cilia in multiciliated cells (MCCs); the catalytic activity of SUV420H1 is required for axoneme formation; MCC precursor specification and centriole amplification occur normally but ciliogenesis fails; overexpression of catalytically active PHF8 (H4K20me1 demethylase) rescues the ciliogenic defect, indicating that conversion of H4K20me1 to H4K20me2 by SUV420H1 is mechanistically critical for cilia formation. Morpholino knockdown in Xenopus; catalytic mutant rescue; PHF8 overexpression rescue; genome-wide transcriptome profiling; phenotypic analysis of cilia Life science alliance Medium 37116939
2026 Single knockdown of KMT5B (not KMT5C) in Xenopus leads to aberrant transcription and downregulation of ciliary genes without globally compacting chromatin at ciliary gene loci (ATAC-seq shows few differentially accessible peaks); the phenotype is rescued by catalytically active PHF8 but not by multicilin overexpression, demonstrating KMT5B regulates multiciliogenesis through an alternative pathway independent of the canonical multicilin-driven program. Morpholino knockdown in Xenopus; ATAC-seq; RNA-seq; catalytic mutant rescue; PHF8 and multicilin overexpression Life science alliance Medium 41946567
2025 Mutant p53(R280T) binds the KMT5B promoter and specifically upregulates KMT5B expression, leading to enhanced DNA repair capacity and 5-FU resistance in nasopharyngeal carcinoma; depletion of KMT5B restores 5-FU-induced DNA damage and improves chemosensitivity. Chromatin immunoprecipitation (p53 binding to KMT5B promoter); siRNA knockdown; Western blot; cell viability/clonogenic assays; xenograft model Cancer letters Medium 40316196
2025 Two missense variants in KMT5B (p.Gly94Ser and p.Ala293Pro) significantly reduce KMT5B protein stability and expression; KMT5B knockdown in HEK293T cells upregulates DDR proteins p53, DDIT4, and γH2AX; overexpression of wild-type KMT5B normalizes these DDR proteins, but the variants fail to do so, with persistent γH2AX foci indicating impaired DNA damage response. Western blot; immunofluorescence; stable cell line overexpression; siRNA knockdown QJM Medium 41442178
2025 Depletion of SUV420H1 in HPV-negative HNSCC cell lines decreases proliferation, cell cycling, and invasion; enzymatic inhibition decreases invasion but not proliferation/cell cycling, demonstrating catalytically-independent and -dependent functions; Suv420h1 knockout in MOC1 cells halted tumor growth and synergized with anti-PD-1 therapy; genome-wide H4K20me3 mapping showed enrichment at EMT, IFN-response, and myeloid-attracting chemokine gene loci. siRNA/shRNA depletion; enzymatic inhibitor treatment; invasion/proliferation assays; syngeneic mouse KO model; ChIP-seq for H4K20me3 bioRxivpreprint Medium 41473330

Source papers

Stage 0 corpus · 33 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2013 Crystal structures of the human histone H4K20 methyltransferases SUV420H1 and SUV420H2. FEBS letters 56 24396869
2021 Autism risk gene KMT5B deficiency in prefrontal cortex induces synaptic dysfunction and social deficits via alterations of DNA repair and gene transcription. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 40 34007043
2010 Comparative analyses of SUV420H1 isoforms and SUV420H2 reveal differences in their cellular localization and effects on myogenic differentiation. PloS one 34 21206904
2016 Specificity of the SUV4-20H1 and SUV4-20H2 protein lysine methyltransferases and methylation of novel substrates. Journal of molecular biology 31 27105552
2021 miR-140-3p enhanced the osteo/odontogenic differentiation of DPSCs via inhibiting KMT5B under hypoxia condition. International journal of oral science 30 34876565
2013 FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis. Journal of molecular cell biology 28 23720823
2015 SUV420H1 enhances the phosphorylation and transcription of ERK1 in cancer cells. Oncotarget 27 26586479
2023 Structural insight into H4K20 methylation on H2A.Z-nucleosome by SUV420H1. Molecular cell 17 37536340
2022 Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay. Frontiers in pediatrics 17 35433545
2019 Somatic Cancer Mutations in the SUV420H1 Protein Lysine Methyltransferase Modulate Its Catalytic Activity. Journal of molecular biology 17 31255706
2023 Catalytic and non-catalytic mechanisms of histone H4 lysine 20 methyltransferase SUV420H1. Molecular cell 16 37595555
2022 Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis. Journal of genetics and genomics = Yi chuan xue bao 16 35331928
2021 Epigenetic Regulation by Suv4-20h1 in Cardiopulmonary Progenitor Cells Is Required to Prevent Pulmonary Hypertension and Chronic Obstructive Pulmonary Disease. Circulation 16 34247492
2023 Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 14 36897941
2021 Differential effects by sex with Kmt5b loss. Autism research : official journal of the International Society for Autism Research 13 33871180
2021 Epigenetic Deregulation of the Histone Methyltransferase KMT5B Contributes to Malignant Transformation in Glioblastoma. Frontiers in cell and developmental biology 13 34447744
2018 Suv4-20h1 promotes G1 to S phase transition by downregulating p21WAF1/CIP1 expression in chronic myeloid leukemia K562 cells. Oncology letters 10 29616094
2023 Structural basis of nucleosomal H4K20 recognition and methylation by SUV420H1 methyltransferase. Cell discovery 9 38052811
2022 KMT5B is required for early motor development. Frontiers in genetics 8 36035149
2023 The histone H4K20 methyltransferase SUV4-20H1/KMT5B is required for multiciliated cell differentiation in Xenopus. Life science alliance 5 37116939
2025 Mutant p53 confers chemoresistance by activating KMT5B-mediated DNA repair pathway in nasopharyngeal carcinoma. Cancer letters 3 40316196
2024 Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report. Heliyon 3 38571636
2023 Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report. Croatian medical journal 3 37927187
2016 Heterochromatin compaction is regulated by Suv4-20h1 to maintains skeletal muscle stem cells quiescence. Stem cell investigation 3 27488816
2023 Catalytic and non-catalytic mechanisms of histone H4 lysine 20 methyltransferase SUV420H1. bioRxiv : the preprint server for biology 2 36993485
2025 Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review. Genes 1 41153391
2025 Novel KMT5B De Novo Variants Disrupt DNA Damage Response in Intellectual Disability. QJM : monthly journal of the Association of Physicians 1 41442178
2026 Catalytic activity of KMT5B promotes ciliogenesis without affecting global chromatin accessibility. Life science alliance 0 41946567
2026 KMT5B in Cancerous and Noncancerous Diseases: Clinical and Mechanical Considerations. International journal of medical sciences 0 42080071
2025 A Novel KMT5B Frameshift Variant Presenting with Autism and Psychiatric Features: Intrafamilial Phenotypic Variation - A Case Report. Molecular syndromology 0 41409306
2025 Oncogenic and immunomodulatory functions of SUV420H1 in HPV-negative head and neck squamous cell carcinoma. bioRxiv : the preprint server for biology 0 41473330
2024 Protocol for preparing SUV420H1 in complex with the nucleosome containing H2A.Z and H4K20Ecx for structure determination. STAR protocols 0 39243379
2021 WITHDRAWN: Trimethylation of H4K20 regulated by RBL1/KMT5B/E2F3 signaling pathway played a protective role in attenuating paraquat-induced acute lung injury. Aging 0 33536346

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