INTS3 Gene - Integrator Complex Subunit 3
A key component of the Integrator complex involved in snRNA processing and DNA repair
Gene Information Card
| Symbol | INTS3 |
|---|---|
| Full Name | Integrator Complex Subunit 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 65123 ncbi.nlm.nih.gov/gene/65123 |
| Ensembl ID | ENSG00000143624 |
| UniProt ID | Q68E01 |
| OMIM ID | 611347 |
| HGNC ID | 26095 |
| Aliases | INT3, C1orf60, DKFZp686A01247 |
Description
INTS3 encodes a subunit of the Integrator complex, which is essential for the 3'-end processing of small nuclear RNAs (snRNAs) and also participates in DNA double-strand break repair via homologous recombination. The protein interacts with other complex members and with the BRCA1-associated genome surveillance complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | INTS3 mutations may impair DNA repair, increasing genomic instability | COSMIC, ClinVar |
| Ovarian cancer | Altered expression or loss of function in homologous recombination repair | COSMIC |
| Neurodevelopmental disorders | Biallelic loss-of-function variants in INTS3 linked to intellectual disability | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.9 | Low |
| Liver | 7.1 | Low |
| Heart | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cells |
| HeLa | 12.1 | Cervical cancer cells |
| K562 | 9.8 | Leukemia cells |
| MCF7 | 8.5 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function, truncation |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | 0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, impairing Integrator complex assembly and DNA repair.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Not documented; likely recessive loss-of-function mechanism.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • nucleoplasm (GO:0005654) |
| • Integrator complex (GO:0032039) | • double-strand break repair (GO:0006302) |
| • mRNA processing (GO:0006397) | • snRNA processing (GO:0004477) |
Pathways
• Integrator complex pathway
• Homologous recombination repair
• snRNA 3'-end processing
Protein Summary
INTS3 is a 104 kDa protein containing a HEAT repeat domain, localized to the nucleus. It forms a subcomplex with INTS4 and INTS6 within the Integrator complex, bridging the complex to RNA polymerase II. It also interacts with the BRCA1-C complex to facilitate DNA repair.
Related Services
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|---|---|---|---|---|
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