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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ARGLU1
arginine and glutamate rich 1
Chromosome 13 · 13q33.3
NCBI Gene: 55082Ensembl: ENSG00000134884.16HGNC: HGNC:25482UniProt: Q9NWB6
98PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription coactivator activityprotein bindingpre-mRNA bindingcadherin bindingneurodegenerative diseasetooth diseasesecondary malignant neoplasmliver disease
✦AI Summary

ARGLU1 is a dual-function regulator of gene expression that acts as both a transcriptional coactivator and alternative splicing modulator 1. As a coactivator, ARGLU1's glutamate-rich C-terminus cooperates with the Mediator complex to enhance nuclear receptor-induced transcription, including glucocorticoid receptor and estrogen receptor signaling 12. Its arginine-rich N-terminus binds pre-mRNA and spliceosome components to regulate cassette exon splicing events 1. ARGLU1 uniquely undergoes autoregulation through binding its own pre-mRNA, which generates a stable intronic sequence RNA (sisRNA) that promotes ARGLU1 localization to nuclear speckles and enhances its splicing activity 3. ARGLU1 is essential for CNS development; deletion causes widespread alternative splicing defects, particularly in neurogenesis genes, leading to p53-dependent apoptosis and microcephaly 4. Additionally, ARGLU1 enhances promoter-proximal RNA polymerase II pausing and stimulates DNA damage repair, mechanisms exploited by cancer cells for chemotherapy resistance 5. In head and neck carcinoma, DTL-mediated degradation of ARGLU1 activates oncogenic Notch signaling 6. ARGLU1 also functions as an antiviral restriction factor by repressing viral gene expression 7, highlighting its critical roles in development, stress responses, and disease.

Sources cited
1
ARGLU1 functions as a transcriptional coactivator of nuclear receptors and splicing regulator; essential for CNS development and glucocorticoid signaling
PMID: 30698747
2
ARGLU1 cooperates with MED1 mediator complex to regulate estrogen receptor-dependent gene transcription and breast cancer cell growth
PMID: 21454576
3
ARGLU1 generates a sisRNA that binds and represses the protein's splicing-inhibitory activity, promoting nuclear speckle localization
PMID: 36533631
4
ARGLU1 deletion causes global alternative splicing defects affecting neurogenesis genes, leading to p53-dependent apoptosis and microcephaly
PMID: 37612280
5
ARGLU1 enhances promoter-proximal RNA polymerase II pausing and stimulates DNA damage repair, promoting cancer cell chemotherapy resistance
PMID: 38520408
6
DTL-mediated K11-linked ubiquitination of ARGLU1 promotes HNSCC progression through Notch pathway activation
PMID: 38218284
7
ARGLU1 acts as an antiviral restriction factor by repressing viral gene expression through enhanced promoter-proximal pausing
PMID: 41186411
8
ARGLU1 undergoes autoregulation via an ultraconserved element controlling alternative splicing and generation of retained intron isoforms
PMID: 27899669
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
tooth diseaseOpen Targets
0.38Weak
secondary malignant neoplasmOpen Targets
0.30Weak
liver diseaseOpen Targets
0.29Weak
Abruptio PlacentaeOpen Targets
0.28Weak
ovarian dysfunctionOpen Targets
0.27Weak
bilirubin metabolism diseaseOpen Targets
0.24Weak
joint diseaseOpen Targets
0.24Weak
mathematical abilityOpen Targets
0.21Weak
alcohol drinkingOpen Targets
0.21Weak
cardiomyopathyOpen Targets
0.20Weak
psoriatic arthritisOpen Targets
0.20Weak
ovarian neoplasmOpen Targets
0.20Weak
adolescent idiopathic scoliosisOpen Targets
0.19Weak
complicationOpen Targets
0.18Weak
medical procedureOpen Targets
0.18Weak
trauma complicationOpen Targets
0.18Weak
nerve plexus diseaseOpen Targets
0.18Weak
connective tissue diseaseOpen Targets
0.17Weak
cervical carcinomaOpen Targets
0.17Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SRSF8Shared pathway100%LUC7L3Protein interaction92%PNISRProtein interaction78%SRPK2Protein interaction73%SRSF11Protein interaction70%PUF60Protein interaction61%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
46%
Lung
43%
Heart
38%
Liver
23%
Brain
9%
Gene Interaction Network
Click a node to explore
ARGLU1SRSF8LUC7L3PNISRSRPK2SRSF11PUF60
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NWB6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.40Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.22 [0.13–0.40]
RankingsWhere ARGLU1 stands among ~20K protein-coding genes
  • #4,866of 20,598
    Most Researched98 · top quartile
  • #1,969of 17,882
    Most Constrained (LOEUF)0.40 · top quartile
Genes detectedARGLU1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Distinct biogenesis pathways may have led to functional divergence of the human and Drosophila Arglu1 sisRNA.
PMID: 36533631
EMBO Rep · 2023
1.00
2
Arginine and glutamate-rich 1 (ARGLU1) interacts with mediator subunit 1 (MED1) and is required for estrogen receptor-mediated gene transcription and breast cancer cell growth.
PMID: 21454576
J Biol Chem · 2011
0.90
3
ARGLU1 is a transcriptional coactivator and splicing regulator important for stress hormone signaling and development.
PMID: 30698747
Nucleic Acids Res · 2019
0.80
4
DTL promotes head and neck squamous cell carcinoma progression by mediating the degradation of ARGLU1 to regulate the Notch signaling pathway.
PMID: 38218284
Int J Biol Macromol · 2024
0.70
5
ARGLU1 enhances promoter-proximal pausing of RNA polymerase II and stimulates DNA damage repair.
PMID: 38520408
Nucleic Acids Res · 2024
0.60