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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CACTIN
cactin, spliceosome C complex subunit
Chromosome 19 · 19p13.3
NCBI Gene: 58509Ensembl: ENSG00000105298.15HGNC: HGNC:29938UniProt: Q8WUQ7
71PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingmRNA splicing, via spliceosomenegative regulation of protein phosphorylationneurodegenerative diseasemitochondrial complex I deficiency, nuclear type 39Meacham syndromeIsolated follicle stimulating hormone deficiency
✦AI Summary

CACTIN (cactin, spliceosome C complex subunit) is a highly conserved eukaryotic protein with dual roles in pre-mRNA splicing and innate immune regulation. As a spliceosome component, CACTIN facilitates efficient excision of specific introns by interacting with spliceosome-associated factors DHX8 and SRRM2 1. Notably, CACTIN is essential for splicing CDCA5/Sororin, a cohesin-associated regulator of sister chr19 cohesion; its depletion causes premature chr19 separation and genome instability 1. CACTIN participates in the C-to-C* transition during exon ligation, particularly for introns with branchpoint-distant 3' splice sites 23. In innate immunity, CACTIN acts as a negative regulator of Toll-like receptor, interferon-regulatory factor, and canonical NF-κB signaling pathways 4. It targets MHC Class III protein IκB-like and localizes to the nucleus to suppress TLR-induced activation of pro-inflammatory genes 4. CACTIN's depletion augments inflammatory responses, whereas its overexpression suppresses them 4. Beyond immune functions, CACTIN is required for cell polarity and collective cell migration 5. Its dysfunction results in pleiotropic effects including cell proliferation arrest, developmental abnormalities, and altered isoform expression patterns across thousands of pre-mRNAs 1.

Sources cited
1
CACTIN interacts with DHX8 and SRRM2 for efficient pre-mRNA splicing and is essential for CDCA5/Sororin splicing, affecting sister chromatid cohesion and genome stability
PMID: 28062851
2
CACTIN acts as a negative regulator of TLR, IRF, and NF-κB signaling, targets IκB-like protein, and requires nuclear localization for suppressing inflammatory responses
PMID: 20829348
3
CACTIN is recruited as a step II factor during the C-to-C* transition in the human spliceosome for exon ligation
PMID: 35705093
4
CACTIN promotes splicing of introns with branchpoint-distant 3' splice sites in intron-rich eukaryotes
PMID: 36095128
5
CACTIN's spliceosome function is required for cell polarity maintenance and collective cell migration in border cells
PMID: 35612426
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
mitochondrial complex I deficiency, nuclear type 39Open Targets
0.03Suggestive
Meacham syndromeOpen Targets
0.03Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.03Suggestive
idiopathic hypereosinophilic syndromeOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.01Suggestive
dilated cardiomyopathyOpen Targets
0.01Suggestive
infectionOpen Targets
0.00Suggestive
hypertrophic cardiomyopathyOpen Targets
0.00Suggestive
VitiligoOpen Targets
0.00Suggestive
mastitisOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
cardiomyopathyOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
renal carcinomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPIEProtein interaction100%XAB2Protein interaction100%RBM22Protein interaction100%CDC5LProtein interaction100%BCAS2Protein interaction100%PRPF19Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Liver
64%
Bone Marrow
59%
Lung
55%
Brain
43%
Heart
23%
Gene Interaction Network
Click a node to explore
CACTINPPIEXAB2RBM22CDC5LBCAS2PRPF19
PROTEIN STRUCTURE
Preparing viewer…
PDB8C6J · 2.80 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.32 [0.22–0.47]
RankingsWhere CACTIN stands among ~20K protein-coding genes
  • #6,614of 20,598
    Most Researched71
  • #2,644of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedCACTIN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human cactin interacts with DHX8 and SRRM2 to assure efficient pre-mRNA splicing and sister chromatid cohesion.
PMID: 28062851
J Cell Sci · 2017
1.00
2
Molecular characterization and functional analysis of Cactin gene from Litopenaeus vannamei.
PMID: 25462455
Fish Shellfish Immunol · 2014
0.90
3
Regulation of ubiquitination and antiviral activity of Cactin by deubiquitinase Usp14 in
PMID: 38563731
J Virol · 2024
0.80
4
Border cell polarity and collective migration require the spliceosome component Cactin.
PMID: 35612426
J Cell Biol · 2022
0.70
5
Mechanism of exon ligation by human spliceosome.
PMID: 35705093
Mol Cell · 2022
0.60