INTS7: Integrator Complex Subunit 7
A key component of the Integrator complex involved in snRNA 3'-end processing and transcriptional regulation
Gene Information Card
| Symbol | INTS7 |
|---|---|
| Full Name | Integrator Complex Subunit 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 25896 ncbi.nlm.nih.gov/gene/25896 |
| Ensembl ID | ENSG00000143493 |
| UniProt ID | Q9H0H3 |
| OMIM ID | 611350 |
| HGNC ID | 26147 |
| Aliases | C1orf73, INT7, DKFZp686A01247 |
Description
INTS7 encodes a subunit of the Integrator complex, which is essential for the 3'-end processing of small nuclear RNAs (snRNAs) and modulates RNA polymerase II transcription. The Integrator complex associates with the C-terminal domain of RNA polymerase II and is involved in both snRNA maturation and transcriptional regulation of protein-coding genes. INTS7 is required for complex stability and snRNA processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | INTS7 mutations may disrupt snRNA processing and transcriptional regulation, contributing to oncogenesis. | COSMIC; TCGA |
| Neurodevelopmental disorders | Rare variants in INTS7 have been implicated in intellectual disability and developmental delay. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Adrenal gland | 9.8 | Medium |
| Brain (cortex) | 8.5 | Medium |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 12.1 | Medium expression |
| K562 | 10.5 | Medium expression |
| A549 | 9.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; predicted NMD |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Loss of function; truncated protein |
| c.890A>G (p.Asn297Ser) | Missense | <0.1% | Unknown; possibly damaging (PolyPhen-2) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in INTS7 are predicted to cause loss of function via nonsense-mediated decay or truncation, impairing Integrator complex assembly and snRNA processing.
Gain of Function (GOF)
No gain-of-function mutations have been reported for INTS7.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for INTS7.
View complete mutation data：
Gene Ontology (GO)
| • snRNA processing (GO:0016075) | • RNA polymerase II C-terminal domain binding (GO:0000993) |
| • Integrator complex (GO:0032039) | • nucleus (GO:0005634) |
| • snRNA 3'-end processing (GO:0034477) |
Pathways
• Integrator complex pathway (Reactome: R-HSA-6807062)
• snRNA processing (Reactome: R-HSA-6807065)
Protein Summary
INTS7 is a 963-amino-acid protein that localizes to the nucleus and is a stable component of the Integrator complex. It contains a HEAT repeat domain that mediates protein-protein interactions within the complex. INTS7 is essential for the 3'-end cleavage of snRNA precursors and facilitates the association of the Integrator complex with RNA polymerase II. Its expression is ubiquitous, with highest levels in testis and thyroid.
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