CRNKL1: Crooked Neck Pre-mRNA Splicing Factor 1
A key regulator of pre-mRNA splicing and cell cycle progression
Gene Information Card
| Symbol | CRNKL1 |
|---|---|
| Full Name | Crooked Neck Pre-mRNA Splicing Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p11.23 |
| NCBI Gene ID | 51340 ncbi.nlm.nih.gov/gene/51340 |
| Ensembl ID | ENSG00000101311 |
| UniProt ID | Q9BZJ0 |
| OMIM ID | 610952 |
| HGNC ID | 24273 |
| Aliases | CRN, CRNKL, CGI-201, HSPC242, MSTP021 |
Description
CRNKL1 encodes a protein that is a component of the spliceosome complex, essential for pre-mRNA splicing. The protein contains a crooked neck-like domain and is involved in cell cycle regulation, particularly during mitosis. CRNKL1 interacts with other splicing factors and is required for proper cell division and genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered splicing of cell cycle genes due to CRNKL1 dysregulation | COSMIC database reports somatic mutations in colorectal tumors |
| Breast cancer | Overexpression linked to aberrant splicing of oncogenes | NCBI Gene expression profiling studies |
| Developmental disorders | Loss-of-function variants may impair splicing during embryogenesis | ClinVar records of rare missense variants in patients with intellectual disability |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Bone marrow | 10.8 | Medium |
| Brain | 8.5 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| K562 | 11.0 | Leukemia cell line |
| HepG2 | 7.8 | Hepatocellular carcinoma cell line |
| A549 | 6.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.02% in gnomAD | Unknown; predicted damaging by SIFT |
| c.1567G>A (p.Glu523Lys) | Missense | 0.01% in gnomAD | Reported in ClinVar as variant of uncertain significance |
| c.2014_2015insA (p.Thr672AsnfsTer2) | Frameshift | Rare | Loss of function; associated with developmental delay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein, impairing spliceosome function and cell cycle progression.
Gain of Function (GOF)
Not well characterized; some missense variants may alter splicing specificity.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing via spliceosome | • RNA binding |
| • nucleus | • cell cycle |
| • mitotic cell cycle | • protein binding |
Pathways
• Spliceosome (KEGG hsa03040)
• Cell cycle (KEGG hsa04110)
Protein Summary
The CRNKL1 protein is a 672-amino acid nuclear protein with a crooked neck domain. It is a core component of the spliceosome, facilitating the removal of introns from pre-mRNA. The protein is essential for mitotic progression and is highly conserved across eukaryotes. Its expression is ubiquitous but enriched in testis and bone marrow.
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