INTS11
Integrator Complex Subunit 11
Gene Information Card
| Symbol | INTS11 |
|---|---|
| Full Name | Integrator Complex Subunit 11 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 54973 ncbi.nlm.nih.gov/gene/54973 |
| Ensembl ID | ENSG00000127054 |
| UniProt ID | Q5TA31 |
| OMIM ID | 614543 |
| HGNC ID | 24882 |
| Aliases | CPSF3L, INT11, RC-68 |
Description
INTS11 encodes a catalytic subunit of the Integrator complex, which is required for the 3' end processing of small nuclear RNAs (snRNAs) and plays a role in RNA polymerase II transcription termination. The protein possesses endonuclease activity and is involved in the cleavage of snRNA precursors. INTS11 is also implicated in DNA repair and cell cycle regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain anomalies | Loss-of-function mutations in INTS11 impair snRNA processing, leading to defective neuronal development | ClinVar, OMIM |
| Acute myeloid leukemia | Somatic mutations and copy number alterations in INTS11 may disrupt Integrator complex function, contributing to leukemogenesis | COSMIC |
| Breast cancer | Overexpression and recurrent mutations observed; potential role in tumor progression via altered RNA processing | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Heart | 5.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| K562 | 8.9 | Leukemia cell line |
| HEK293 | 7.4 | Embryonic kidney cell line |
| MCF7 | 6.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Ter) | Nonsense | <0.1% | Loss of function; associated with neurodevelopmental disorder |
| c.1543G>A (p.Gly515Arg) | Missense | 0.2% | Unknown significance; reported in COSMIC for breast cancer |
| c.1865_1866insA (p.Leu622fs) | Frameshift | <0.1% | Loss of function; observed in AML |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in INTS11 lead to truncated or absent protein, impairing Integrator complex endonuclease activity and snRNA processing.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for INTS11.
Dominant Negative (DN)
Missense mutations in the catalytic domain may exert dominant-negative effects by disrupting complex assembly or activity.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrator complex pathway (Reactome: R-HSA-6807505)
• snRNA processing (Reactome: R-HSA-6807505)
• RNA polymerase II transcription termination (Reactome: R-HSA-73856)
Protein Summary
INTS11 is a 666-amino acid protein that functions as the catalytic endonuclease subunit of the Integrator complex. It contains a metallo-beta-lactamase domain essential for RNA cleavage. The protein localizes to the nucleus and is involved in snRNA 3' end maturation, transcription termination, and DNA repair. Structural studies indicate that INTS11 forms a heterodimer with INTS9 to mediate RNA processing.
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