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Showing NACC1 — NAC1 is a alias.

NACC1

Nucleus accumbens-associated protein 1 · UniProt Q96RE7

Length
527 aa
Mass
57.3 kDa
Annotated
2026-06-10
42 papers in source corpus 15 papers cited in narrative 15 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 4/5 claims corpus-supported (80%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

NACC1 (NAC-1) is a BTB/POZ-domain transcriptional repressor that homooligomerizes through its BTB/POZ domain to form discrete nuclear bodies, an interaction that is essential for its function: a BTB/POZ-only dominant-negative construct disrupts these bodies, blocks tumor formation, and triggers apoptosis (PMID:9278521, PMID:17130457). A principal repression target is Gadd45GIP1; NACC1 silences Gadd45GIP1 transcriptionally to sustain cell growth, and disruption of NACC1 homodimerization de-represses the Gadd45 pathway, defining a NACC1→Gadd45GIP1/Gadd45 axis that controls proliferation and paclitaxel sensitivity downstream of HB-EGF signaling (PMID:17804717, PMID:19305429, PMID:31490008). This pro-survival regulatory activity recurs across malignancies, where NACC1 sustains an ADAM9/PI3K/AKT survival axis in AML and drives an NF-κB–NACC1–RIPK3 axis governing macrophage necroptosis and inflammatory cytokine output under lipotoxic stress (PMID:41564367, PMID:39898241). In early development NACC1 binds gene-regulatory chromatin and promotes accessibility to induce totipotency genes and totipotency-associated retrotransposons in a feed-forward loop required for embryogenesis [PMID:bio_10.1101_2025.10.14.682353]. In the nervous system NACC1 was first identified as a cocaine-inducible repressor in the nucleus accumbens that regulates postsynaptic dopamine transmission (PMID:10934270, PMID:10400893); it also interacts with the synaptic proteins SynGAP1 and GluK2A to support glutamatergic neurotransmission (PMID:37533751). A recurrent de novo heterozygous p.Arg298Trp variant causes a severe neurodevelopmental syndrome (microcephaly, epilepsy, cataracts, profound developmental delay) (PMID:28132692), acting in a dominant-negative manner that impairs SynGAP1/GluK2A binding, drives hyperSUMOylation, and produces seizures and transcriptional dysregulation of synaptic and glial genes in knock-in mice and human isogenic neurons (PMID:37533751, PMID:38388424, PMID:40910719).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 1997 Medium

    Established NAC-1 as a candidate transcriptional regulator by identifying its POZ/BTB protein-interaction domain and its cocaine-inducible expression in the nucleus accumbens.

    Evidence cDNA cloning, sequence analysis, and in situ hybridization after chronic cocaine self-administration

    PMID:9278521

    Open questions at the time
    • No direct transcriptional activity demonstrated
    • Target genes unknown
    • Domain function inferred from sequence only
  2. 1999 Medium

    Defined NAC-1 induction as a compensatory regulator of postsynaptic dopamine transmission, linking it functionally to drug-response circuitry.

    Evidence Antisense knockdown in nucleus accumbens with microdialysis and behavioral readouts

    PMID:10400893

    Open questions at the time
    • Molecular targets mediating the dopamine effect unidentified
    • Single in vivo study
  3. 2000 Medium

    Demonstrated that NAC-1 is a bona fide nuclear transcriptional repressor acting via POZ/BTB protein interactions and is required for development of cocaine sensitization.

    Evidence Reporter gene repression assay, mammalian two-hybrid, immunofluorescence, and in vivo adenoviral overexpression

    PMID:10934270

    Open questions at the time
    • Repressed endogenous target genes not identified
    • Interaction partners not named
  4. 2006 High

    Showed that BTB/POZ-mediated homooligomerization into nuclear bodies is mechanistically essential for NAC-1's oncogenic, anti-apoptotic function.

    Evidence Co-immunoprecipitation, immunofluorescence, dominant-negative BTB/POZ expression, and mouse xenografts

    PMID:17130457

    Open questions at the time
    • Did not identify downstream effector genes
    • Structural basis of oligomerization not resolved
  5. 2007 High

    Identified Gadd45GIP1 as a direct transcriptional target whose repression by NAC-1 drives cell growth, providing a concrete effector for its oncogenic activity.

    Evidence SAGE, siRNA knockdown, engineered overexpression, dominant-negative epistasis, and growth assays in vitro and in vivo

    PMID:17804717

    Open questions at the time
    • Direct promoter binding not shown
    • Cofactors of repression undefined
  6. 2009 High

    Extended the NAC-1/Gadd45 axis to chemoresistance, establishing that homodimerization-dependent Gadd45 repression confers paclitaxel resistance.

    Evidence siRNA/shRNA knockdown, ectopic expression, dominant-negative BTB/POZ, and ex vivo drug resistance assays

    PMID:19305429

    Open questions at the time
    • Mechanism connecting Gadd45 to mitotic drug response not fully resolved
  7. 2017 Medium

    Established NACC1 as a human germline disease gene by identifying a recurrent de novo p.Arg298Trp variant causing a neurodevelopmental syndrome.

    Evidence Whole-exome sequencing in a large cohort with statistical recurrence analysis

    PMID:28132692

    Open questions at the time
    • No functional mechanism established in this study
    • Dominant-negative vs gain-of-function not distinguished
  8. 2019 Medium

    Placed NACC1 downstream of HB-EGF signaling in chemoresistance, showing HB-EGF inhibition downregulates NACC1 and reactivates proapoptotic MAPK signaling.

    Evidence Pharmacological HB-EGF inhibition (CRM197), western blot, apoptosis assays, and xenografts

    PMID:31490008

    Open questions at the time
    • No direct genetic epistasis for NACC1 position in the pathway
    • Single lab pharmacological inference
  9. 2023 High

    Provided the mechanistic basis of the R298W disease variant by showing it impairs glutamatergic transmission, loses SynGAP1/GluK2A binding, and becomes hyperSUMOylated.

    Evidence Autaptic neuron electrophysiology, Co-IP/pulldown interaction mapping, SUMOylation assays, and mutagenesis (murine R284W)

    PMID:37533751

    Open questions at the time
    • GluK2A binding not rescued by removing SUMOylation, leaving that defect mechanistically unexplained
    • How synaptic partners relate to transcriptional repressor function unclear
  10. 2024 High

    Demonstrated in vivo that the R284W knock-in mouse recapitulates the human epilepsy phenotype with dose-dependent severity and broad synaptic/glial transcriptional dysregulation.

    Evidence Knock-in mouse with EEG, RNA-seq, immunohistochemistry, western blot, and behavioral assays

    PMID:38388424

    Open questions at the time
    • Direct transcriptional targets driving seizures not pinpointed
    • Cell-type-specific contributions to phenotype unresolved
  11. 2025 Medium

    Broadened NACC1's role to early development, showing it binds regulatory chromatin and promotes accessibility to induce totipotency genes and retrotransposons in a feed-forward loop.

    Evidence Single-cell proteomics/transcriptomics, chromatin accessibility and binding genomics, and loss-of-function in embryos (preprint)

    PMID:bio_10.1101_2025.10.14.682353

    Open questions at the time
    • Preprint, not peer-reviewed
    • Mechanism of accessibility promotion (vs canonical repressor role) unclear
  12. 2025 Medium

    Defined NACC1 as a pro-necroptotic transcriptional regulator of RIPK3 within an NF-κB-linked inflammatory axis under lipotoxic stress.

    Evidence iPSC-derived multicellular liver culture, single-cell RNA-seq, genetic knockdown, and pharmacological inhibition

    PMID:41564367

    Open questions at the time
    • Direct binding of NACC1 to RIPK3 regulatory regions not shown
    • Single lab
  13. 2025 Medium

    Extended NACC1's pro-survival function to AML via an ADAM9/PI3K/AKT axis, and identified its mRNA as an IGF2BP1/m6A-regulated target in colorectal cancer.

    Evidence Lentiviral knockdown with AKT-activator rescue (AML); RNA pull-down, RIP-PCR, and tumorigenesis assays (CRC)

    PMID:39898241 PMID:40584151

    Open questions at the time
    • Whether NACC1 directly represses ADAM9 not established
    • Single lab per finding
  14. 2025 Medium

    Showed in a human isogenic system that R298W elevates NACC1 protein and dysregulates synaptic, adhesion, and patterning programs, complementing the mouse phenotype.

    Evidence Genome-edited human ESC-derived cortical neurons with RNA-seq, western blot, adhesion assays, and qPCR

    PMID:40910719

    Open questions at the time
    • Mechanism linking elevated protein to dominant phenotype unresolved
    • Relationship between adhesion/patterning changes and clinical features unclear

Open questions

Synthesis pass · forward-looking unresolved questions
  • How NACC1 reconciles its canonical role as a BTB/POZ transcriptional repressor with its chromatin-accessibility-promoting and neuronal synaptic-interaction functions, and how the R298W variant exerts dominance across these contexts, remains unresolved.
  • No structure of NACC1 nuclear bodies or DNA/chromatin engagement
  • Direct genomic binding sites in disease-relevant neurons unmapped
  • Unifying mechanism across repressor vs activator behaviors lacking

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140110 transcription regulator activity 5 GO:0003677 DNA binding 1
Localization
GO:0005634 nucleus 3
Pathway
R-HSA-112316 Neuronal System 3 R-HSA-5357801 Programmed Cell Death 3 R-HSA-74160 Gene expression (Transcription) 3
Partners
GADD45GIP1GRIK2IGF2BP1SYNGAP1

Evidence

Reading pass · 15 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1997 NAC-1 mRNA encodes a protein containing a POZ/BTB domain in its first 120 amino acids; this domain mediates protein-protein interactions among transcriptional regulators. NAC-1 mRNA is selectively increased in the nucleus accumbens after chronic cocaine self-administration. cDNA cloning, sequence analysis, in situ hybridization The Journal of neuroscience Medium 9278521
2000 NAC-1 acts as a transcriptional repressor localized to neuronal nuclei. Transfection of NAC-1 in cell culture repressed transcription of a reporter gene. NAC-1 interacted with other POZ/BTB proteins in mammalian two-hybrid assays via its POZ/BTB domain. Adenoviral overexpression of NAC-1 in the rat nucleus accumbens prevented the development (but not the expression) of cocaine-induced behavioral sensitization. Reporter gene assay (transcriptional repression), mammalian two-hybrid, nuclear localization by immunofluorescence, adenoviral overexpression in vivo The Journal of neuroscience Medium 10934270
1999 Antisense knockdown of NAC-1 in the nucleus accumbens enhanced the motor stimulant response to acute cocaine without increasing dopamine release, but increased behavioral response to intra-accumbens dopamine injection; suggesting NAC-1 induction by cocaine is a compensatory mechanism regulating postsynaptic dopamine transmission. Antisense oligonucleotide microinjection into nucleus accumbens, in vivo microdialysis, behavioral assay Synapse Medium 10400893
2006 NAC-1 homooligomerizes through its BTB/POZ domain, forming discrete nuclear bodies. Expression of a dominant-negative BTB/POZ-domain-only mutant disrupts these NAC-1 nuclear bodies, prevents tumor formation, and promotes tumor cell apoptosis. Full-length NAC-1 overexpression enhances tumorigenicity, demonstrating that BTB/POZ-mediated homodimerization is essential for oncogenic function. Co-immunoprecipitation, double immunofluorescence, dominant-negative mutant expression, mouse xenograft model Proceedings of the National Academy of Sciences of the United States of America High 17130457
2007 NAC-1 acts as a transcriptional repressor of Gadd45GIP1 (growth arrest and DNA-damage-inducible 45-gamma interacting protein). NAC-1 knockdown in SKOV3 and HeLa cells induced Gadd45GIP1 expression transcriptionally; engineered NAC-1 expression in NAC-1-negative cells suppressed endogenous Gadd45GIP1. Induction of dominant-negative NAC-1 conferred a growth-inhibitory effect partially reversible by Gadd45GIP1 knockdown. Gadd45GIP1 overexpression caused growth arrest in vitro and in vivo. SAGE, siRNA knockdown, engineered overexpression, dominant-negative induction, in vitro and in vivo growth assays Cancer research High 17804717
2009 NAC-1 homodimerization (via BTB/POZ domain) contributes to paclitaxel resistance through negative regulation of the Gadd45 pathway. NAC-1 knockdown or disruption of homodimerization by dominant-negative BTB/POZ induced Gadd45gamma expression, which interacted with Gadd45gip1. Ectopic NAC-1 or Gadd45gip1 knockdown conferred paclitaxel resistance; NAC-1 knockdown or Gadd45gip1 overexpression increased paclitaxel sensitivity. siRNA knockdown, ectopic expression, dominant-negative BTB/POZ construct, shRNA, ex vivo drug resistance assays Oncogene High 19305429
2017 A recurrent de novo heterozygous NACC1 variant c.892C>T (p.Arg298Trp) causes a neurodevelopmental syndrome (microcephaly, epilepsy, cataracts, profound developmental delay). The same variant was identified in 7 independent patients by whole-exome sequencing, establishing NACC1 as a germline disease gene with selective constraint against missense variants. Whole-exome sequencing in 17,228 individuals, statistical analysis of variant recurrence American journal of human genetics Medium 28132692
2023 The disease-associated Nacc1-R284W (murine homolog of human R298W) mutation impairs glutamatergic neurotransmission in a cell-autonomous dominant-negative manner in autaptic neurons. Novel Nacc1 interaction partners identified in the brain include SynGAP1, GluK2A, and several SUMO E3 ligases. The R284W mutant shows reduced binding to SynGAP1 and GluK2A, and greatly increased SUMOylation. Ablating SUMOylation of R284W partially restored SynGAP1 binding but not GluK2A binding. Autaptic neuron electrophysiology, co-immunoprecipitation/pulldown (interaction partners), SUMOylation biochemical assays, mutagenesis Frontiers in molecular neuroscience High 37533751
2024 The Nacc1 R284W knock-in mouse model of the human R298W mutation exhibits epileptiform discharges, behavioral seizures, hindlimb clasping, and altered EEG power spectral distribution. RNA-seq of P14 mutant cortex revealed >1,000 differentially expressed genes: synaptic genes (postsynapse, ion channels) were upregulated and glial/metabolic/mitochondrial genes were downregulated. Synaptic protein levels were altered. NACC1 nuclear immunoreactivity increased in cortical pyramidal neurons and parvalbumin interneurons but not in astrocytes or oligodendroglia. Homozygosity worsened phenotypes. Knock-in mouse model, EEG, RNA-seq, immunohistochemistry, western blot, behavioral assays The Journal of neuroscience High 38388424
2019 CRM197 (HB-EGF inhibitor) reverses paclitaxel resistance in ovarian cancer cells at least in part by downregulating NAC-1 and its downstream Gadd45gip1/Gadd45 pathway, activating the proapoptotic JNK/p38MAPK pathway and enhancing caspase-3 activity. This places NACC-1 downstream of HB-EGF signaling in the paclitaxel resistance pathway. In vitro drug treatment, western blot, apoptosis assay, in vivo xenograft Cancer medicine Medium 31490008
2025 NACC1 acts as a key transcriptional regulator of RIPK3 in macrophages through an NF-κB-linked pathway. In PNPLA3-148M macrophages under lipotoxic stress, NF-κB upregulates NACC1, which in turn drives RIPK3 expression and phosphorylation, promoting necroptosis and pro-inflammatory cytokine secretion. Genetic or pharmacological inhibition of NACC1 reduced RIPK3, suppressed necroptosis, and lowered inflammatory cytokines. iPSC-derived multicellular liver culture, single-cell RNA-seq, genetic knockdown, pharmacological inhibition (NIC3), integrative transcriptomic analysis Hepatology communications Medium 41564367
2025 NACC1 directly binds gene-regulatory regions and promotes chromatin accessibility to induce expression of totipotency genes, zygotic genome activation genes, and totipotency-associated retrotransposons in mouse embryonic stem cells. These NACC1-regulated retrotransposons further modulate expression of proximal totipotency genes, forming a coherent feed-forward regulatory mechanism. NACC1 is also required for embryogenesis progression beyond the totipotency stage. Single-cell proteomics, single-cell transcriptomics, chromatin accessibility assays (ATAC-seq or equivalent), genomics (ChIP-seq or CUT&RUN), loss-of-function in embryos bioRxiv (preprint)preprint Medium bio_10.1101_2025.10.14.682353
2025 NACC1 regulates ADAM9 expression, and the NACC1/ADAM9/PI3K/AKT axis sustains AML cell survival. NACC1 knockdown inhibited PI3K/AKT signaling, promoted apoptosis, suppressed proliferation, and caused G0/G1 arrest. ADAM9 was downregulated upon NACC1 knockdown, and AKT activator SC79 restored proliferation inhibited by either NACC1 or ADAM9 knockdown. Lentiviral knockdown, flow cytometry, proliferation assays, western blot, AKT activator rescue International journal of medical sciences Medium 39898241
2025 circNRIP1 interacts with the KH1/2 domain of IGF2BP1 (an m6A reader), blocking its activity and thereby reducing NACC1 mRNA stability, leading to suppression of colorectal tumorigenesis. This places NACC1 mRNA as a downstream target whose stability is regulated by IGF2BP1-mediated m6A reading. RNA pull-down, proteomic analysis, RNA immunoprecipitation-PCR, in vitro and in vivo proliferation/tumorigenesis assays Gastroenterology report Medium 40584151
2025 ESC-derived cortical neurons homozygous or heterozygous for the NACC1 R298W mutation express higher NACC1 protein levels and show altered expression of transcripts involved in pre- and postsynaptic signaling, neurotransmission, extracellular matrix, and adhesion. Increased protein levels of presynaptic SNAP25 and VAMP2 and postsynaptic SYNGAP1 were observed. Mutant neural stem cells showed increased adhesion to collagen 1 and 4. Transcriptional profiling indicated a shift in dorsal-ventral patterning toward a ventral signature. Genome-edited human isogenic ESCs, cortical neuron differentiation, RNA-seq, western blot, adhesion functional assay, qPCR Human molecular genetics Medium 40910719

Source papers

Stage 0 corpus · 42 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2006 A BTB/POZ protein, NAC-1, is related to tumor recurrence and is essential for tumor growth and survival. Proceedings of the National Academy of Sciences of the United States of America 118 17130457
2009 NAC-1, a potential stem cell pluripotency factor, contributes to paclitaxel resistance in ovarian cancer through inactivating Gadd45 pathway. Oncogene 72 19305429
1997 NAC-1, a rat brain mRNA, is increased in the nucleus accumbens three weeks after chronic cocaine self-administration. The Journal of neuroscience : the official journal of the Society for Neuroscience 72 9278521
2018 LncRNA LINC00319 accelerates ovarian cancer progression through miR-423-5p/NACC1 pathway. Biochemical and biophysical research communications 69 30442370
2007 NAC-1 controls cell growth and survival by repressing transcription of Gadd45GIP1, a candidate tumor suppressor. Cancer research 64 17804717
2000 NAC-1 is a brain POZ/BTB protein that can prevent cocaine-induced sensitization in the rat. The Journal of neuroscience : the official journal of the Society for Neuroscience 64 10934270
2021 FUS-induced circRHOBTB3 facilitates cell proliferation via miR-600/NACC1 mediated autophagy response in pancreatic ductal adenocarcinoma. Journal of experimental & clinical cancer research : CR 58 34416910
2011 Amplification of the ch19p13.2 NACC1 locus in ovarian high-grade serous carcinoma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 53 21240255
2008 A BTB/POZ gene, NAC-1, a tumor recurrence-associated gene, as a potential target for Taxol resistance in ovarian cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 43 18483383
2015 miR-339-5p inhibits migration and invasion in ovarian cancer cell lines by targeting NACC1 and BCL6. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 41 26553360
2017 A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. American journal of human genetics 39 28132692
2021 A Novel NIPBL-NACC1 Gene Fusion Is Characteristic of the Cholangioblastic Variant of Intrahepatic Cholangiocarcinoma. The American journal of surgical pathology 34 33999553
1999 Interrupted expression of NAC-1 augments the behavioral responses to cocaine. Synapse (New York, N.Y.) 29 10400893
2007 Expression and clinical role of the bric-a-brac tramtrack broad complex/poxvirus and zinc protein NAC-1 in ovarian carcinoma effusions. Human pathology 27 17391728
2020 Circular RNA hsa_circ_0001588 promotes the malignant progression of lung adenocarcinoma by modulating miR-524-3p/NACC1 signaling. Life sciences 24 32735888
2018 NACC1, as a Target of MicroRNA-331-3p, Regulates Cell Proliferation in Urothelial Carcinoma Cells. Cancers 22 30248959
2020 Systemic Delivery of NAC-1 siRNA by Neuropilin-Targeted Polymersomes Sensitizes Antiangiogenic Therapy of Metastatic Triple-Negative Breast Cancer. Biomacromolecules 19 33174734
2019 CRM197 reverses paclitaxel resistance by inhibiting the NAC-1/Gadd45 pathway in paclitaxel-resistant ovarian cancer cells. Cancer medicine 19 31490008
2020 MiR-218-5p Suppresses the Progression of Retinoblastoma Through Targeting NACC1 and Inhibiting the AKT/mTOR Signaling Pathway. Cancer management and research 18 32821163
2022 Circ_0027089 regulates NACC1 by targeting miR-136-5p to aggravate the development of hepatitis B virus-related hepatocellular carcinoma. Anti-cancer drugs 14 34419960
2022 MiR-361-3p alleviates cerebral ischemia-reperfusion injury by targeting NACC1 through the PINK1/Parkin pathway. Journal of molecular histology 12 35067807
2020 NACC-1 regulates hepatocellular carcinoma cell malignancy and is targeted by miR-760. Acta biochimica et biophysica Sinica 12 32091103
2021 Unclassified low grade spindle cell sarcoma with storiform pattern characterized by recurrent novel EWSR1/FUS-NACC1 fusions. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 11 33859361
2021 Silencing of NACC1 inhibits the proliferation, migration and invasion of nasopharyngeal carcinoma cells via regulating the AKT/mTOR signaling pathway. Oncology letters 11 34691255
2023 An overview of the co-transcription factor NACC1: Beyond its pro-tumor effects. Life sciences 10 38030057
2023 An intellectual-disability-associated mutation of the transcriptional regulator NACC1 impairs glutamatergic neurotransmission. Frontiers in molecular neuroscience 9 37533751
2023 Exosome-transported circHDAC1_004 Promotes Proliferation, Migration, and Angiogenesis of Hepatocellular Carcinoma by the miR-361-3p/NACC1 Axis. Journal of clinical and translational hepatology 8 37577235
2023 Identification of a NACC1-Regulated Gene Signature Implicated in the Features of Triple-Negative Breast Cancer. Biomedicines 7 37189841
2021 A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China. Frontiers in pediatrics 6 34869110
2024 Nacc1 Mutation in Mice Models Rare Neurodevelopmental Disorder with Underlying Synaptic Dysfunction. The Journal of neuroscience : the official journal of the Society for Neuroscience 5 38388424
2022 A Low Grade Nasopharyngeal sarcoma With FUS::NACC1 Fusion and Immunohistochemical Evidence of Epithelial Differentiation: Expanding the Clinicopathologic Spectrum of an Emerging Entity. Head and neck pathology 5 36169794
2025 Cholangioblastic Cholangiocarcinoma ( NIPBL :: NACC1 Cholangiocarcinoma) : Expanded Morphologic Spectrum and Further Genetic Characterization. The American journal of surgical pathology 4 39815455
2025 NACC1 accelerates the progression of AML by regulating the ADAM9/PI3K/AKT axis. International journal of medical sciences 3 39898241
2024 miR-218-5p, miR-124-3p and miR-23b-3p act synergistically to modulate the expression of NACC1, proliferation, and apoptosis in C-33A and CaSki cells. Non-coding RNA research 3 38577025
2024 Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant. Movement disorders clinical practice 3 38698576
2022 A novel SREBF1::NACC1 gene fusion in an unclassifiable intracranial tumour. Neuropathology and applied neurobiology 2 35900258
2025 miR-144 regulates bovine skeletal muscle satellite cell proliferation and differentiation by targeting the NACC1 gene. Genomics 1 40324660
2025 circNRIP1 impairs tumorigenesis of colorectal cancer by sponging IGF2BP1 and decreasing NACC1 mRNA stability. Gastroenterology report 1 40584151
2026 A PNPLA3-NACC1-RIPK3 pathway mediates macrophage necroptosis and inflammation in MASLD. Hepatology communications 0 41564367
2025 Defining molecular signatures of the solid/pseudopapillary and pseudoglandular patterns in so-called "solid-tubulocystic intrahepatic cholangiocarcinoma vs. NIPBL::NACC1 fusion hepatic carcinoma". Pathology, research and practice 0 40286787
2025 ESC derived human cortical neurons harboring the NACC1 c.892C > T p.R298W missense mutation exhibit molecular differences from controls that influence neuronal maturation. Human molecular genetics 0 40910719
2024 Case report: A novel de novo variant of NACC1 caused epileptic encephalopathy and intellectual disability. Frontiers in psychiatry 0 39421062

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