INTS5 Gene - Integrator Complex Subunit 5
A key component of the Integrator complex involved in snRNA processing and transcriptional regulation
Gene Information Card
| Symbol | INTS5 |
|---|---|
| Full Name | Integrator Complex Subunit 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 80789 ncbi.nlm.nih.gov/gene/80789 |
| Ensembl ID | ENSG00000149273 |
| UniProt ID | Q6P9B9 |
| OMIM ID | 611355 |
| HGNC ID | 26079 |
| Aliases | INT5, C11orf60, INT5 |
Description
INTS5 encodes integrator complex subunit 5, a component of the Integrator complex that mediates 3'-end processing of small nuclear RNAs (snRNAs) and regulates RNA polymerase II transcription. The Integrator complex is involved in snRNA U1 and U2 maturation and modulates transcription of protein-coding genes. INTS5 is essential for complex assembly and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder | Disruption of snRNA processing due to INTS5 loss-of-function variants may impair neuronal gene expression | ClinVar: pathogenic variants reported in individuals with developmental delay |
| Cancer (pan-cancer) | Altered INTS5 expression may affect transcriptional regulation of oncogenes or tumor suppressors | COSMIC: somatic mutations observed in various cancers including lung and colorectal |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| HeLa | 8.7 | Cervical cancer cells |
| K562 | 6.4 | Leukemia cells |
| HepG2 | 5.2 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss-of-function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect |
| c.200_201del (p.Glu67fs) | Frameshift | <0.01% | Loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause nonsense-mediated decay or truncated protein, impairing Integrator complex assembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • snRNA processing | • RNA 3'-end processing |
| • Integrator complex | • nucleus |
| • protein binding |
Pathways
• Integrator complex pathway
• snRNA processing
Protein Summary
INTS5 is a 677-amino acid protein (UniProt Q6P9B9) that localizes to the nucleus and is a structural component of the Integrator complex. It contains no known enzymatic domains but is required for complex stability and snRNA 3'-end cleavage. The protein interacts with other Integrator subunits to mediate RNA processing.
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