HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NACC1
nucleus accumbens associated 1
Chromosome 19 Β· 19p13.13
NCBI Gene: 112939Ensembl: ENSG00000160877.8HGNC: HGNC:20967UniProt: Q96RE7
93PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmprotein bindingpositive regulation of cell population proliferationnucleusneurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelinationgenetic disorderplacental retentionNeurodevelopmental disorder
✦AI Summary

NACC1 is a BTB/POZ domain-containing transcriptional co-regulator that functions as a transcriptional repressor in neuronal and cancer cells 1. It forms homo- or hetero-dimeric complexes through its BTB/POZ domain and regulates downstream signaling through transcriptional repression mechanisms 1. NACC1 is SUMOylated at conserved lysine residues and recruited to promyelocytic leukemia nuclear bodies, facilitating its regulatory functions 2. In cancer biology, NACC1 is substantially overexpressed across multiple tumor types and promotes tumor progression, cell proliferation, and survival 1. Mechanistically, NACC1 drives cancer pathways including the ADAM9/PI3K/AKT axis in acute myeloid leukemia and the CD44-JAK1-STAT3 axis in triple-negative breast cancer 34. NACC1 also maintains cancer stem cell stemness and suppresses anti-tumor immunity through myeloid-derived suppressor cell regulation 4. In neural function, a de novo R298W mutation impairs glutamatergic neurotransmission through altered binding to SynGAP1 and GluK2A, and elevated SUMOylation, causing intellectual disability and epilepsy 5. Clinically, NACC1 fusions (NIPBL::NACC1) characterize a distinct hepatic carcinoma subtype, and NACC1 inhibition phenocopies therapeutic benefit in melanoma immunotherapy contexts 67.

Sources cited
1
NACC1 is a BTB/POZ transcriptional co-regulator overexpressed in tumors, associated with poor prognosis and regulating biological processes including embryonic development and stem cell pluripotency
PMID: 38030057
2
NACC1 undergoes SUMOylation on conserved lysine residues and is recruited to promyelocytic leukemia nuclear bodies through SUMO modification
PMID: 25891951
3
NACC1 is highly expressed in AML cells and regulates the ADAM9/PI3K/AKT signaling axis to promote AML cell proliferation and survival
PMID: 39898241
4
NACC1 maintains cancer stem cell markers in triple-negative breast cancer and affects the CD44-JAK1-STAT3 axis and immunosuppressive signals including TGFΞ² and IL-6
PMID: 39243032
5
A de novo NACC1 R298W mutation impairs glutamatergic neurotransmission through reduced binding to SynGAP1 and GluK2A and increased SUMOylation, causing intellectual disability and epilepsy
PMID: 37533751
6
NIPBL::NACC1 fusion characterizes a distinct primary hepatic carcinoma with follicular and solid/trabecular growth patterns
PMID: 38047392
7
NACC1 inhibition phenocopies the therapeutic benefit of NR2F6 loss in melanoma, enhancing response to PD-1 immunotherapy through increased CD8+ T cell abundance
PMID: 37406115
Disease Associationsβ“˜21
neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelinationOpen Targets
0.73Strong
genetic disorderOpen Targets
0.34Weak
placental retentionOpen Targets
0.15Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
microcephalyOpen Targets
0.11Weak
melanomaOpen Targets
0.10Suggestive
autism spectrum disorderOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
ulcerative colitisOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.07Suggestive
acute myeloid leukemiaOpen Targets
0.07Suggestive
in situ carcinomaOpen Targets
0.07Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.07Suggestive
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelinationUniProt
Pathogenic Variants6
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)Pathogenic
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination|not provided|Inborn genetic diseases|NACC1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 298
NM_052876.4(NACC1):c.385G>A (p.Asp129Asn)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 129
NM_052876.4(NACC1):c.1402C>T (p.Arg468Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 468
NM_052876.4(NACC1):c.1201C>T (p.Arg401Trp)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 401
NM_052876.4(NACC1):c.454G>C (p.Gly152Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 152
NM_052876.4(NACC1):c.1384G>A (p.Asp462Asn)Likely pathogenic
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination|NACC1-related disorder
β˜…β˜†β˜†β˜†2021β†’ Residue 462
View on ClinVar β†—
Related Genes
POU5F1Protein interaction100%SOX2Protein interaction100%GADD45GIP1Protein interaction91%HDAC4Protein interaction87%SCAF1Protein interaction79%FBXL19Protein interaction78%
Tissue Expression6 tissues
Brain
100%
Liver
82%
Lung
79%
Heart
47%
Bone Marrow
40%
Ovary
31%
Gene Interaction Network
Click a node to explore
NACC1POU5F1SOX2GADD45GIP1HDAC4SCAF1FBXL19
PROTEIN STRUCTURE
Preparing viewer…
PDB3GA1 Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.33Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.17 [0.09–0.33]
RankingsWhere NACC1 stands among ~20K protein-coding genes
  • #5,154of 20,598
    Most Researched93
  • #3,347of 5,498
    Most Pathogenic Variants6
  • #1,372of 17,882
    Most Constrained (LOEUF)0.33 Β· top 10%
Genes detectedNACC1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Melanoma-intrinsic NR2F6 activity regulates antitumor immunity.
PMID: 37406115
Sci Adv Β· 2023
1.00
2
NIPBL::NACC1 Fusion Hepatic Carcinoma.
PMID: 38047392
Am J Surg Pathol Β· 2024
0.90
3
An overview of the co-transcription factor NACC1: Beyond its pro-tumor effects.
PMID: 38030057
Life Sci Β· 2024
0.80
4
An intellectual-disability-associated mutation of the transcriptional regulator
PMID: 37533751
Front Mol Neurosci Β· 2023
0.70
5
NACC1 accelerates the progression of AML by regulating the ADAM9/PI3K/AKT axis.
PMID: 39898241
Int J Med Sci Β· 2025
0.60