QKI (QKI, KH Domain Containing RNA Binding)
A key regulator of RNA splicing, stability, and translation, implicated in schizophrenia, intellectual disability, and cancer.
Gene Information Card
| Symbol | QKI |
|---|---|
| Full Name | QKI, KH Domain Containing RNA Binding |
| Gene Type | Protein coding |
| Chromosomal Location | 6q26-q27 |
| NCBI Gene ID | 9444 ncbi.nlm.nih.gov/gene/9444 |
| Ensembl ID | ENSG00000112531 |
| UniProt ID | Q96PU8 |
| OMIM ID | 609590 |
| HGNC ID | 9770 |
| Aliases | QK1, QK2, QK3, QK4, QK5, QK6, QK7, hQK1, hQK2, hQK3, hQK4, hQK5, hQK6, hQK7 |
Description
The QKI gene encodes a member of the STAR (signal transduction and activation of RNA) family of RNA-binding proteins. QKI regulates pre-mRNA splicing, mRNA stability, and translation, playing critical roles in oligodendrocyte differentiation, myelination, and neuronal development. Alternative splicing generates multiple isoforms with distinct functions. Dysregulation of QKI is associated with schizophrenia, intellectual disability, and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered QKI expression disrupts myelin-related RNA processing in oligodendrocytes, contributing to white matter abnormalities. | OMIM 609590; NCBI Gene 9444 |
| Intellectual disability | Loss-of-function mutations in QKI impair neuronal RNA metabolism and synaptic plasticity. | ClinVar; OMIM 609590 |
| Glioblastoma | QKI downregulation promotes tumor cell proliferation and invasion through dysregulation of alternative splicing. | COSMIC; NCBI Gene 9444 |
| Colorectal cancer | QKI loss-of-function mutations and reduced expression correlate with poor prognosis and metastasis. | COSMIC; NCBI Gene 9444 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Testis | 15.2 | Medium |
| Heart | 10.8 | Medium |
| Lung | 6.3 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 22.4 | Neuronal model |
| U87MG (glioblastoma) | 18.7 | Glioma cell line |
| HEK293 (embryonic kidney) | 12.1 | Common expression system |
| HCT116 (colorectal carcinoma) | 8.5 | Colon cancer model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.754C>T (p.Arg252*) | Nonsense | <0.01% | Loss of function; associated with intellectual disability |
| c.1021G>A (p.Gly341Arg) | Missense | <0.01% | Impaired RNA binding; linked to schizophrenia |
| c.1285_1286del (p.Glu429fs) | Frameshift | <0.01% | Loss of function; reported in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations truncate the protein, abolishing RNA-binding activity and leading to haploinsufficiency.
Gain of Function (GOF)
Not well documented; no recurrent gain-of-function mutations reported in major databases.
Dominant Negative (DN)
Missense mutations in the KH domain may interfere with wild-type QKI function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA binding (GO:0003729) |
| • via spliceosome (GO:0000381) | • mRNA stabilization (GO:0048255) |
| • oligodendrocyte differentiation (GO:0048709) | • myelination (GO:0042552) |
Pathways
• RNA splicing (Reactome R-HSA-72163)
• mRNA surveillance pathway (KEGG hsa03015)
• Oligodendrocyte specification and differentiation (WikiPathways WP4307)
Protein Summary
The QKI protein is a 352-amino acid RNA-binding protein containing a single KH domain and a QUA1/QUA2 domain architecture. It shuttles between the nucleus and cytoplasm, binding to specific RNA motifs to regulate splicing, export, stability, and translation. QKI is essential for oligodendrocyte maturation and central nervous system myelination. Isoform-specific functions are observed, with QKI-5 predominantly nuclear and QKI-6/QKI-7 cytoplasmic. Post-translational modifications, including phosphorylation, modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| QKI Knockout HEK293 Cell Line | EDJ-KQ6591 | Human | 9444 | Details Get a Quote |
| QKI Knockout A-549 Cell Line | EDJ-KQ30814 | Human | 9444 | Details Get a Quote |
| QKI Knockout HCT 116 Cell Line | EDJ-KQ30815 | Human | 9444 | Details Get a Quote |
| QKI Knockout HeLa Cell Line | EDJ-KQ30816 | Human | 9444 | Details Get a Quote |
