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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACIN1
apoptotic chromatin condensation inducer 1
Chromosome 14 · 14q11.2
NCBI Gene: 22985Ensembl: ENSG00000100813.15HGNC: HGNC:17066UniProt: B4DQZ7
209PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusRNA bindingnuclear speckASAP complexneurodegenerative diseaseadolescent idiopathic scoliosishepatocellular carcinomaacute lymphoblastic leukemia
✦AI Summary

ACIN1 (apoptotic chr14 condensation inducer 1) is a multifunctional protein with roles in RNA splicing and apoptosis regulation. As an auxiliary component of the exon junction complex (EJC), ACIN1 contributes RNA-binding activity to ASAP complexes that regulate intron excision and mRNA metabolism 1. ACIN1 specifically modulates alternative splicing of apoptotic genes, particularly inhibiting formation of proapoptotic Bcl-X(S) isoforms 2. Upon caspase-3 activation, ACIN1 directly induces apoptotic chr14 condensation 3. Clinically, ACIN1 dysregulation associates with multiple malignancies. ACIN1::NUTM1 fusion represents a recurrent cryptic rearrangement in non-KMT2A-rearranged infant acute lymphoblastic leukemia, characterized by upregulation of HOXA9 and HOXA10, yet showing excellent prognosis with high chemotherapy sensitivity 45. ACIN1 expression is significantly upregulated in hepatocellular carcinoma, potentially regulated by miR-674-5p-mediated mechanisms 6. In cervical cancer, METTL3-mediated enhancement of ACIN1 mRNA stability through IGF2BP3 promotes tumor progression 2. Elevated platelet ACIN1 mRNA levels show potential diagnostic value in lung cancer 1. ACIN1 also emerges as a hub gene in bicalutamide-resistant prostate cancer, connected to RNA splicing pathways 7.

Sources cited
1
As an auxiliary component of the exon junction complex (EJC), ACIN1 contributes RNA-binding activity to ASAP complexes that regulate intron excision and mRNA metabolism .
PMID: 30201066
2
ACIN1 specifically modulates alternative splicing of apoptotic genes, particularly inhibiting formation of proapoptotic Bcl-X(S) isoforms .
PMID: 35255776
3
Upon caspase-3 activation, ACIN1 directly induces apoptotic chr14 condensation .
PMID: 40018940
4
ACIN1 expression is significantly upregulated in hepatocellular carcinoma, potentially regulated by miR-674-5p-mediated mechanisms .
PMID: 39128105
5
ACIN1 also emerges as a hub gene in bicalutamide-resistant prostate cancer, connected to RNA splicing pathways .
PMID: 37143720
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.55Moderate
adolescent idiopathic scoliosisOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
acute lymphoblastic leukemiaOpen Targets
0.05Suggestive
myocardial infarctionOpen Targets
0.03Suggestive
pulmonary fibrosisOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
psoriasisOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
microphthalmia with limb anomaliesOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
diabetic retinopathyOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
retinal degenerationOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SRRM1Protein interaction98%MAGOHProtein interaction98%EIF4A3Protein interaction98%RBM8AProtein interaction91%UPF3BProtein interaction89%CASP3Protein interaction89%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
81%
Lung
66%
Liver
45%
Heart
37%
Brain
26%
Gene Interaction Network
Click a node to explore
ACIN1SRRM1MAGOHEIF4A3RBM8AUPF3BCASP3
PROTEIN STRUCTURE
Preparing viewer…
PDB6G6S · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.15Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.10 [0.06–0.15]
RankingsWhere ACIN1 stands among ~20K protein-coding genes
  • #1,993of 20,598
    Most Researched209 · top 10%
  • #208of 17,882
    Most Constrained (LOEUF)0.15 · top 5%
Genes detectedACIN1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
A characteristic gene expression profile regulated by ACIN1::NUTM1 fusion in a newly identified infant leukaemic cell line and an ACIN1::NUTM1-inducible model.
PMID: 40884014
Br J Haematol · 2025
1.00
2
Analysis of the Upregulated Expression Mechanism of Apoptotic Chromatin Condensation Inducer 1 in Hepatocellular Carcinoma Based on Bioinformatics.
PMID: 39128105
Turk J Gastroenterol · 2024
0.90
3
Identification of bicalutamide resistance-related genes and prognosis prediction in patients with prostate cancer.
PMID: 37143720
Front Endocrinol (Lausanne) · 2023
0.80
4
The SRSF3-MBNL1-Acin1 circuit constitutes an emerging axis to lessen DNA fragmentation in colorectal cancer via an alternative splicing mechanism.
PMID: 33142236
Neoplasia · 2020
0.72
5
Cryptic recurrent ACIN1-NUTM1 fusions in non-KMT2A-rearranged infant acute lymphoblastic leukemia.
PMID: 31515871
Genes Chromosomes Cancer · 2020
0.70