Affinage

RBCK1

RanBP-type and C3HC4-type zinc finger-containing protein 1 · UniProt Q9BYM8

Length
510 aa
Mass
57.6 kDa
Annotated
2026-04-28
43 papers in source corpus 24 papers cited in narrative 24 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

RBCK1 (HOIL-1L) is an RBR-type E3 ubiquitin ligase that functions both as a catalytic subunit of the linear ubiquitin chain assembly complex (LUBAC) and as an autonomous K48-linked ubiquitin ligase targeting diverse substrates for proteasomal degradation. As a LUBAC component, RBCK1 generates linear ubiquitin chains essential for NF-κB signaling and glycogen metabolism, and its deficiency causes polyglucosan body accumulation recapitulating Lafora disease pathology (PMID:35084461). Acting independently, RBCK1 catalyzes K48-linked ubiquitination and degradation of substrates including IRF3, TAB2/TAB3, p53, PTEN, YAP, PPARγ, PXR, MFN2, and PICK1, thereby regulating antiviral innate immunity, NF-κB activation, cell cycle progression, Hippo signaling, metabolic reprogramming, and ferroptosis resistance (PMID:18711448, PMID:17449468, PMID:30874541, PMID:36280829, PMID:38763208). RBCK1 shuttles between cytoplasm and nucleus via defined NES and NLS sequences; in the nucleus it acts as a transcriptional co-activator at ER-responsive and other promoters, with its activity modulated by CBP, PML, PKCβ phosphorylation, and sequestration by its RING-lacking splice variant RBCK2 (PMID:15833741, PMID:18303026, PMID:20103625).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 1998 Medium

    Establishing that RBCK1 possesses intrinsic transcriptional activation capacity dependent on its RING-finger and B-Box motifs, and that an alternative splice variant RBCK2 acts as a dominant-negative inhibitor through hetero-oligomerization, defined RBCK1 as a regulated transcription factor before its E3 ligase activity was recognized.

    Evidence GAL4 chimeric reporter system with domain deletions, in vitro interaction assays of RBCK1/RBCK2 homo- and hetero-oligomers

    PMID:9642138 PMID:9755849

    Open questions at the time
    • Transcriptional targets not identified
    • Physiological relevance of RBCK2 inhibition not validated in vivo
    • Endogenous stoichiometry of RBCK1:RBCK2 unknown
  2. 2005 High

    Mapping a nuclear export signal (Leu-142/145) and a RING-IBR-dependent nuclear localization signal resolved how RBCK1 shuttles between cytoplasm and nucleus, and identifying CBP and PML as nuclear interaction partners explained how its transcriptional activity is enhanced and repressed, respectively.

    Evidence Leptomycin B treatment, NES/NLS mutagenesis, nuclear body co-localization, Co-IP with CBP/PML, transcriptional reporters; RBCK2 co-expression relocalization assays

    PMID:15833741 PMID:16083853

    Open questions at the time
    • Chromatin targets of RBCK1 nuclear activity not identified at this stage
    • Structural basis of RBCK2-mediated cytoplasmic tethering unknown
  3. 2006 High

    Discovery that RBCK1 physically associates with PKCβI in cardiac myocytes and is required for phenylephrine-induced hypertrophy connected RBCK1 to signal-dependent cardiac remodeling and identified PKCβ as both a binding partner and a functional regulator.

    Evidence Co-IP in neonatal myocytes, PKCβ-selective antagonists, adenoviral overexpression, RNAi with cell size measurement

    PMID:17121852

    Open questions at the time
    • Whether RBCK1 ubiquitinates PKCβI or acts as a scaffold not resolved
    • In vivo cardiac phenotype not established
  4. 2007 High

    Demonstrating that RBCK1 targets TAB2 and TAB3 adaptors for proteasome-dependent degradation established RBCK1 as a negative feedback regulator of TNF/IL-1-triggered NF-κB signaling, the first clear link between RBCK1 E3 activity and a major inflammatory pathway.

    Evidence Reciprocal Co-IP, proteasome inhibitor rescue, RNAi knockdown, NF-κB reporter assays

    PMID:17449468

    Open questions at the time
    • Ubiquitin chain linkage type on TAB2/3 not specified
    • In vivo role in inflammation not tested
  5. 2008 High

    Biochemical reconstitution of RBCK1 E3 ligase activity in vitro, together with identification of IRF3 as a K48-ubiquitination substrate degraded during viral infection, established RBCK1 as a bona fide ubiquitin ligase with dual roles in NF-κB and antiviral innate immunity, while revealing regulation by PKCβ phosphorylation and RBCK2 inhibition.

    Evidence In vitro self-ubiquitination assay, PKCβ phosphorylation, RBCK2 co-expression inhibition, IRF3 ubiquitination/degradation upon viral infection, plaque assays

    PMID:18303026 PMID:18711448

    Open questions at the time
    • PKCβ phosphorylation sites on RBCK1 not mapped
    • Relative contribution of K48-linked versus linear ubiquitin ligase activities not delineated
  6. 2010 High

    ChIP-based demonstration that RBCK1 is recruited to the ERα promoter to drive ERα and cyclin B1 transcription, with depletion causing G2-M arrest, established a direct nuclear transcriptional role in breast cancer cell proliferation; concurrently, interaction with Eya1 and a zebrafish loss-of-function phenotype mimicking BOR syndrome expanded RBCK1 function to developmental transcription.

    Evidence ChIP at ERα promoter, siRNA/flow cytometry in breast cancer cells; GST pulldown/Co-IP with Eya1, zebrafish morpholino with BOR-like phenotype

    PMID:20103625 PMID:20956555

    Open questions at the time
    • Whether transcriptional roles are ubiquitin-dependent or -independent unclear
    • Mammalian developmental phenotype not established
  7. 2012 High

    Identification of PXR as an RBCK1 ubiquitination substrate in primary human hepatocytes extended the substrate repertoire to nuclear receptors controlling drug metabolism.

    Evidence Yeast two-hybrid, Co-IP, domain mapping, ubiquitination assay, MG-132 rescue, siRNA in primary hepatocytes

    PMID:23160820

    Open questions at the time
    • Ubiquitin chain linkage type on PXR not determined
    • In vivo pharmacokinetic consequences not tested
  8. 2019 High

    Showing that RBCK1 directly ubiquitinates p53 for proteasomal degradation, with genetic rescue by p53 knockdown, established RBCK1 as an alternative p53 E3 ligase promoting renal cell carcinoma proliferation.

    Evidence Co-IP, ubiquitination assay, siRNA with p53 co-knockdown rescue, xenograft

    PMID:30874541

    Open questions at the time
    • Ubiquitin chain type on p53 not specified
    • Relationship to MDM2-mediated p53 degradation not addressed
  9. 2020 High

    Discovering that MTSS1 recruits RBCK1 to catalyze K48-linked ubiquitination of NF-κB p65, and that ACTBL2 competes for MTSS1 binding to stabilize p65, revealed a cofactor-dependent mechanism by which RBCK1 directly degrades a key NF-κB transcription factor.

    Evidence Reciprocal Co-IP, K48-specific ubiquitination assay, Mtss1 KO mice, competition binding, organoid and xenograft models

    PMID:35122005

    Open questions at the time
    • Structural basis of MTSS1-mediated RBCK1 recruitment unknown
    • Whether this mechanism operates in non-cancer contexts not tested
  10. 2022 High

    Multiple studies in 2022 greatly expanded the RBCK1 substrate repertoire—identifying PTEN, YAP, PPARγ, and PICK1 as K48-ubiquitination targets—while RBCK1 deficiency in mice was shown to cause glycogen hyperphosphorylation and polyglucosan body formation mimicking Lafora disease, revealing an unexpected LUBAC-dependent role in glycogen quality control.

    Evidence RBCK1-KO mouse glycogen analysis, neuroinflammation/behavioral tests, genetic rescue (glycogen synthase); Co-IP and K48-ubiquitination assays for PTEN, YAP, PPARγ, PICK1 in cancer cell models; RNF31 stabilization by RBCK1 in HCC

    PMID:35084461 PMID:35174471 PMID:35411229 PMID:35869046 PMID:36280829 PMID:36934971

    Open questions at the time
    • Molecular mechanism linking LUBAC linear ubiquitination to glycogen metabolism not resolved
    • Whether substrate selectivity between K48 and linear activities is context-dependent remains unclear
    • In vivo validation of most cancer-context substrates lacking
  11. 2024 High

    Identification of MFN2 as an RBCK1 ubiquitination substrate whose degradation reduces mitochondrial ROS and lipid peroxidation under ferroptotic stress connected RBCK1 to ferroptosis resistance in pancreatic cancer.

    Evidence Co-IP, ubiquitination assay, RBCK1 depletion, IKE-induced ferroptosis, mitochondrial ROS measurement, xenograft

    PMID:38763208

    Open questions at the time
    • Ubiquitin chain linkage type on MFN2 not specified
    • Whether RBCK1-MFN2 axis operates outside pancreatic cancer unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • The molecular logic determining whether RBCK1 acts via linear (LUBAC-dependent) versus K48-linked (autonomous) ubiquitination on specific substrates remains unresolved, as does the structural basis for its remarkably broad substrate recognition.
  • No structural model of RBCK1 in complex with any substrate
  • Switch mechanism between LUBAC-linear and autonomous-K48 activity unknown
  • Comprehensive in vivo substrate mapping not performed

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140096 catalytic activity, acting on a protein 12 GO:0140110 transcription regulator activity 4 GO:0016874 ligase activity 3
Localization
GO:0005634 nucleus 3 GO:0005829 cytosol 2
Pathway
R-HSA-392499 Metabolism of proteins 6 R-HSA-162582 Signal Transduction 5 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-1430728 Metabolism 2 R-HSA-1640170 Cell Cycle 1 R-HSA-5357801 Programmed Cell Death 1
Partners
CBPEYA1FKBPLMTSS1PKCΒPMLRNF31TAB2
Complex memberships
LUBAC

Evidence

Reading pass · 24 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2008 RBCK1 functions as an E3 ubiquitin ligase that catalyzes K48-linked ubiquitination and proteasomal degradation of IRF3, acting as a negative feedback regulator of virus-triggered type I interferon induction. Overexpression and knockdown experiments, ubiquitination assays, plaque assays, viral infection-induced RBCK1 induction demonstrated Cell research High 18711448
2007 RBCK1 physically interacts with TAB2 and TAB3 adaptor proteins and facilitates their proteasome-dependent degradation, thereby negatively regulating TNF- and IL-1-triggered NF-κB activation. Co-immunoprecipitation, overexpression, RNAi knockdown, proteasome inhibitor (MG-132) rescue, NF-κB reporter assays The Journal of biological chemistry High 17449468
2008 RBCK1 possesses intrinsic E3 ubiquitin ligase activity (self-ubiquitination in vitro) that is inhibited by interaction with its splice variant RBCK2 (which lacks the RING-IBR domain) and by phosphorylation by PKCβ. In vitro ubiquitination assay, coexpression studies, PKCβ phosphorylation assay, proteasomal degradation rescue The Journal of biological chemistry High 18303026
1998 RBCK1 has transcriptional activation activity requiring both its RING-finger and B-Box motifs; PKA enhances this activity ~8-fold while MEK1 and MEKK1 repress it. GAL4 chimeric transcription regulator system, deletion/mutant constructs, kinase co-expression Biochemical and biophysical research communications Medium 9642138
1998 RBCK2, a splice variant of RBCK1 lacking the RING-IBR domain, forms a hetero-oligomeric complex with RBCK1 and inhibits its transcriptional activity; RBCK1 homo- and hetero-dimerizes but RBCK2 does not self-interact. In vitro interaction assays, GAL4 transcription reporter system, analysis of alternative splicing FEBS letters Medium 9755849
2005 RBCK1 shuttles between cytoplasm and nucleus via an N-terminal nuclear export signal (Leu-142/145) and a C-terminal RING-IBR nuclear localization signal; in the nucleus it localizes to nuclear bodies and interacts with CBP (enhancing transcription) and PML (repressing CBP-enhanced activity). Leptomycin B treatment, mutational analysis of NES/NLS, nuclear body co-localization, co-immunoprecipitation with CBP and PML, transcriptional reporter assays The Journal of biological chemistry High 15833741
2005 RBCK2 (RING-lacking splice variant) tethers RBCK1 in the cytoplasm by forming a hetero-oligomeric complex, relocating even NES-disrupted RBCK1 from nucleus to cytoplasm. Subcellular localization assays, co-expression of NES-disrupted RBCK1 with RBCK2, fluorescence microscopy Biochemical and biophysical research communications Medium 16083853
2006 RBCK1 physically associates with PKCβI in cardiac myocytes; this interaction increases upon phenylephrine stimulation, and RBCK1-mediated hypertrophy requires PKCβ activity, establishing RBCK1 as a key regulator of PKCβI function in cardiac hypertrophy. Co-immunoprecipitation in neonatal myocytes, adenovirus-based overexpression, PKCβ-selective antagonists, RNAi knockdown with cell size measurement The Journal of biological chemistry High 17121852
2010 RBCK1 promotes ERα-positive breast cancer cell cycle progression by driving transcription of ERα and cyclin B1; it is recruited to the ERα promoter (by ChIP), and its depletion causes G2-M arrest. Chromatin immunoprecipitation (ChIP), siRNA knockdown, flow cytometry cell cycle analysis, RT-PCR for target genes Cancer research High 20103625
2010 RBCK1 interacts with Eya1 (Eyes absent 1 protein) and enhances Eya protein function as co-activators for Six transcription factors; knockdown of the Rbck1 ortholog in zebrafish causes a BOR syndrome-like phenotype with ear and branchial arch defects. GST pulldown, co-immunoprecipitation, zebrafish morpholino knockdown, in situ hybridization Molecular and cellular biology High 20956555
2012 RBCK1 interacts with human PXR (pregnane X receptor) via all RBCK1 domains, ubiquitinates PXR, and promotes its proteasomal degradation, thereby reducing PXR target gene induction by rifampicin in primary human hepatocytes. Yeast two-hybrid screening, co-immunoprecipitation, domain mapping, ubiquitination assay, proteasome inhibitor (MG-132) rescue, siRNA knockdown in primary hepatocytes Drug metabolism and disposition High 23160820
2013 RBCK1 interacts with FKBPL within HSP90 chaperone complexes together with ERα, regulates FKBPL stability via ubiquitination, and together with FKBPL associates with ERα at the pS2 gene promoter to regulate its transcription. Co-immunoprecipitation, ubiquitination assay, stable overexpression clones, siRNA knockdown, ChIP at pS2 promoter Oncogene High 23912458
2016 RBCK1 interacts with HOXA1 and TRAF2; RBCK1 and TRAF2 act epistatically downstream of HOXA1 in NF-κB activation, and the HOXA1 11-His repeat and homeodomain are required for RBCK1 binding and NF-κB stimulation. Proteome-wide interaction screening, Co-IP, epistasis analysis by overexpression/knockdown, NF-κB luciferase reporter assays, domain deletion mapping Nucleic acids research High 27382069
2019 RBCK1 directly interacts with and facilitates poly-ubiquitination and proteasomal degradation of p53 in renal cell carcinoma cells; the proliferative effect of RBCK1 is rescued by p53 knockdown. Co-immunoprecipitation, ubiquitination assay, siRNA knockdown, rescue experiment with p53 knockdown, in vivo xenograft Cell death & disease High 30874541
2020 MTSS1 interacts with RBCK1 to facilitate RBCK1-mediated K48-linked ubiquitination and degradation of NF-κB p65, suppressing NF-κB signaling; ACTBL2 competes with RBCK1 for MTSS1 binding, leading to p65 stabilization. Co-immunoprecipitation, ubiquitination assay (K48-specific), Mtss1 knockout mouse models, competition binding assays, organoid and xenograft models Nature cancer High 35122005
2022 RBCK1 is a component of the linear ubiquitin chain assembly complex (LUBAC) and generates linear ubiquitin chains; RBCK1 deficiency causes glycogen hyperphosphorylation and accumulation of polyglucosan bodies with overlong glucan branches in muscle and brain, recapitulating malin-deficient Lafora disease pathology. RBCK1-deficient mouse model, glycogen structural analysis (branch length, phosphorylation), neuroinflammation assays, behavioral tests, glycogen synthase downregulation rescue Brain : a journal of neurology High 35084461
2022 RBCK1 interacts with PTEN and promotes its K48-linked ubiquitination and proteasomal degradation in ovarian cancer cells. Co-immunoprecipitation, K48-linked ubiquitination assay, siRNA knockdown, cell proliferation and apoptosis assays Human cell Medium 35174471
2022 RBCK1 interacts with YAP protein and promotes K48-linked poly-ubiquitination of YAP at lysines K76, K204, and K321, leading to YAP degradation and suppression of Hippo/YAP signaling in triple-negative breast cancer. Co-immunoprecipitation, ubiquitin-based IP assay with K48-specific linkage detection, protein stability assays, in vitro and in vivo overexpression/depletion, RNA sequencing, luciferase reporter Cell communication and signaling Medium 36280829
2022 RBCK1 interacts with RNF31 (HOIP), a partner subunit of LUBAC, and stabilizes RNF31 by repressing its ubiquitination and proteasomal degradation in hepatocellular carcinoma cells. Co-immunoprecipitation, ubiquitination assay, overexpression/knockdown, in vivo xenograft Cell death discovery Medium 35869046
2022 RBCK1 promotes PPARγ ubiquitination and degradation, thereby disrupting the PPARγ/PGC1α complex and enhancing WNT/β-catenin/GLUT1-mediated aerobic glycolysis in hepatocellular carcinoma cells. Co-immunoprecipitation, ubiquitination assay, overexpression/knockdown, WNT/β-catenin reporter, GLUT1 expression analysis American journal of cancer research Medium 35411229
2024 RBCK1 interacts with and polyubiquitylates mitofusin 2 (MFN2) to promote its proteasomal degradation under ferroptotic stress, leading to decreased mitochondrial ROS and lipid peroxidation and conferring ferroptosis resistance in pancreatic cancer cells. Co-immunoprecipitation, ubiquitination assay, RBCK1 genetic depletion, ferroptosis induction with IKE, mitochondrial ROS measurement, xenograft model Free radical biology & medicine High 38763208
2023 RBCK1 promotes degradation of PICK1 via ubiquitination under hypoxia; HIF-1α transcriptionally regulates RBCK1 to mediate this effect, and RBCK1 knockdown inhibits nasopharyngeal carcinoma cell proliferation that is rescued by co-knockdown of PICK1. Co-immunoprecipitation, immunofluorescence co-localization, ubiquitination/protein stability assays, siRNA knockdown with genetic rescue, xenograft model Life sciences Medium 36934971
2023 RBCK1 promotes degradation of ANKRD35 via ubiquitination; ANKRD35 destabilizes MITD1 by binding SUMO2, and the resulting RBCK1-ANKRD35-MITD1-ANXA1 axis regulates AKT and ERK phosphorylation and sunitinib resistance in renal cell carcinoma. Bioinformatic analysis, in vitro/in vivo RBCK1 knockdown, Co-immunoprecipitation, pathway phosphorylation analysis (AKT, ERK) Oncogene Medium 36732658
2022 RBCK1 regulates HIF1α signaling in ER-positive breast cancer; RBCK1 depletion affects HIF1α pathway activity, identifying RBCK1 as a regulator of HIF1α in this cancer context. siRNA knockdown, western blotting for HIF1α pathway components, cell proliferation assays Cell death & disease Low 36473847

Source papers

Stage 0 corpus · 43 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2008 Negative feedback regulation of cellular antiviral signaling by RBCK1-mediated degradation of IRF3. Cell research 129 18711448
2013 Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement. Genome medicine 72 23889995
2007 RBCK1 negatively regulates tumor necrosis factor- and interleukin-1-triggered NF-kappaB activation by targeting TAB2/3 for degradation. The Journal of biological chemistry 66 17449468
2016 HOXA1 binds RBCK1/HOIL-1 and TRAF2 and modulates the TNF/NF-κB pathway in a transcription-independent manner. Nucleic acids research 62 27382069
2019 RBCK1 contributes to chemoresistance and stemness in colorectal cancer (CRC). Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 57 31545242
2010 RBCK1 drives breast cancer cell proliferation by promoting transcription of estrogen receptor alpha and cyclin B1. Cancer research 49 20103625
2017 Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum. Journal of neurology 45 29260357
2019 RBCK1 promotes p53 degradation via ubiquitination in renal cell carcinoma. Cell death & disease 44 30874541
2010 Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development. Molecular and cellular biology 39 20956555
2024 Statins improve cardiac endothelial function to prevent heart failure with preserved ejection fraction through upregulating circRNA-RBCK1. Nature communications 33 38580662
2013 Identification of RBCK1 as a novel regulator of FKBPL: implications for tumor growth and response to tamoxifen. Oncogene 33 23912458
2012 RBCK1, an E3 ubiquitin ligase, interacts with and ubiquinates the human pregnane X receptor. Drug metabolism and disposition: the biological fate of chemicals 29 23160820
2008 Identification of ubiquitin ligase activity of RBCK1 and its inhibition by splice variant RBCK2 and protein kinase Cbeta. The Journal of biological chemistry 27 18303026
1998 Transcriptional activity of RBCK1 protein (RBCC protein interacting with PKC 1): requirement of RING-finger and B-Box motifs and regulation by protein kinases. Biochemical and biophysical research communications 26 9642138
2020 MTSS1 suppresses mammary tumor-initiating cells by enhancing RBCK1-mediated p65 ubiquitination. Nature cancer 24 35122005
2022 Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency. Brain : a journal of neurology 23 35084461
2005 Nuclear-cytoplasmic shuttling of a RING-IBR protein RBCK1 and its functional interaction with nuclear body proteins. The Journal of biological chemistry 22 15833741
2021 Comprehensive Multi-Omics Identification of Interferon-γ Response Characteristics Reveals That RBCK1 Regulates the Immunosuppressive Microenvironment of Renal Cell Carcinoma. Frontiers in immunology 19 34795663
2006 RBCK1, a protein kinase CbetaI (PKCbetaI)-interacting protein, regulates PKCbeta-dependent function. The Journal of biological chemistry 18 17121852
2021 Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency. Neuropathology and applied neurobiology 16 34405429
2022 Regulation of PTEN and ovarian cancer progression by an E3 ubiquitin ligase RBCK1. Human cell 15 35174471
2022 RBCK1 is an endogenous inhibitor for triple negative breast cancer via hippo/YAP axis. Cell communication and signaling : CCS 15 36280829
2024 E3 ubiquitin ligase RBCK1 confers ferroptosis resistance in pancreatic cancer by facilitating MFN2 degradation. Free radical biology & medicine 14 38763208
2022 RBCK1 promotes hepatocellular carcinoma metastasis and growth by stabilizing RNF31. Cell death discovery 14 35869046
1994 Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDP-dissociation inhibitor (GDI). Mammalian genome : official journal of the International Mammalian Genome Society 14 7849400
1998 Molecular cloning and characterization of RBCK2, a splicing variant of a RBCC family protein, RBCK1. FEBS letters 13 9755849
2022 The E3 ubiquitin ligase RBCK1 promotes the invasion and metastasis of hepatocellular carcinoma by destroying the PPARγ/PGC1α complex. American journal of cancer research 12 35411229
2023 The E3 ligase RBCK1 reduces the sensitivity of ccRCC to sunitinib through the ANKRD35-MITD1-ANXA1 axis. Oncogene 10 36732658
2022 RBCK1 regulates the progression of ER-positive breast cancer through the HIF1α signaling. Cell death & disease 8 36473847
2023 Hypoxia-induced degradation of PICK1 by RBCK1 promotes the proliferation of nasopharyngeal carcinoma cells. Life sciences 5 36934971
2022 A novel variant of RBCK1 gene causes mild polyglucosan myopathy. Neurosciences (Riyadh, Saudi Arabia) 5 35017290
2005 Cytoplasmic tethering of a RING protein RBCK1 by its splice variant lacking the RING domain. Biochemical and biophysical research communications 5 16083853
2024 A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness. ESC heart failure 4 38329383
2024 A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review. Molecular genetics & genomic medicine 4 38588043
2023 A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1. Clinical genetics 4 37102570
2023 RBCK1 Overexpression Attenuates Inflammation and Mobility of Derp1-Induced Nasal Mucosal Cells by Downregulating NLRP3. International archives of allergy and immunology 3 36702106
2023 Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1. Molecular genetics and metabolism reports 3 38077957
2021 RBCK1-TRIB3 decelerated the progression of acute promyelocytic leukemia. Hematological oncology 3 34310740
2025 Identification of a novel RBCK1 splice site donor variant in Basset Hounds with glycogen storage disease myopathy. Molecular genetics and metabolism 1 40939526
2024 Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy. Neuropathology : official journal of the Japanese Society of Neuropathology 1 38922716
2026 An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1. Human molecular genetics 0 41729854
2025 RBCK1 enhances antiviral response through promoting K63-linked polyubiquitination of IRF7 in Carassius auratus var. Pengze. Fish & shellfish immunology 0 40588086
2023 The E3 ubiquitin ligase RBCK1: Implications in the tumor immune microenvironment and antiangiogenic therapy of glioma. Computational and structural biotechnology journal 0 37928949