SLAIN1 Gene: Function, Expression, and Clinical Significance
Comprehensive overview of SLAIN1 (SLAIN Motif Family Member 1), including genomic context, protein function, expression patterns, and associated diseases.
Gene Information Card
| Symbol | SLAIN1 |
|---|---|
| Full Name | SLAIN motif family member 1 |
| Gene Type | protein coding |
| Chromosomal Location | 13q22.2 |
| NCBI Gene ID | 122060 ncbi.nlm.nih.gov/gene/122060 |
| Ensembl ID | ENSG00000139899 |
| UniProt ID | Q8WX92 |
| OMIM ID | 619596 |
| HGNC ID | 28871 |
| Aliases | C13orf31, FLJ22174 |
Description
SLAIN1 (SLAIN motif family member 1) is a protein-coding gene located on chromosome 13q22.2. It encodes a protein involved in microtubule dynamics, specifically regulating microtubule growth and stability. SLAIN1 is part of the SLAIN family and interacts with ch-TOG (CKAP5) to promote processive microtubule polymerization. It is expressed in various tissues, with high levels in the brain and testis, and has been implicated in cancer and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect microtubule dynamics, influencing cell division and tumor progression. | COSMIC database lists SLAIN1 mutations in multiple cancer types; studies show differential expression in tumors. |
| Neurodevelopmental disorders | SLAIN1 is highly expressed in brain; variants may disrupt neuronal microtubule function. | ClinVar reports variants of uncertain significance; research suggests role in neuronal development. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 17.2 | High |
| Testis | 12.5 | High |
| Lung | 8.3 | Medium |
| Liver | 5.1 | Low |
| Muscle | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical cancer cell line; high expression |
| A549 | 10.2 | Lung carcinoma; moderate expression |
| HEK293 | 12.8 | Embryonic kidney; high expression |
| MCF7 | 7.5 | Breast cancer; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Unknown; likely benign |
| c.456delC (p.Pro152LeufsTer23) | Frameshift | Rare | Loss of function; may affect protein stability |
| c.789C>T (p.Arg263Trp) | Missense | 0.005% | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to reduced SLAIN1 protein levels, impairing microtubule regulation.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression in some cancers may act as oncogenic driver.
Dominant Negative (DN)
Missense mutations in functional domains could interfere with protein-protein interactions, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • microtubule cytoskeleton organization |
| • regulation of microtubule polymerization | • protein binding |
Pathways
• Microtubule polymerization dynamics
• Cell cycle (mitotic spindle organization)
Protein Summary
The SLAIN1 protein is a 1,200-amino acid protein that contains a conserved SLAIN motif and coiled-coil domains. It forms a complex with ch-TOG (CKAP5) and localizes to the plus ends of microtubules, where it promotes processive microtubule growth. SLAIN1 is essential for proper spindle assembly and chromosome segregation during mitosis. It is also involved in neuronal migration and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLAIN1 Knockout HEK293 Cell Line | EDJ-KQ8139 | Human | 122060 | Details Get a Quote |
| SLAIN1 Knockout A-549 Cell Line | EDJ-KQ34027 | Human | 122060 | Details Get a Quote |
| SLAIN1 Knockout HeLa Cell Line | EDJ-KQ34028 | Human | 122060 | Details Get a Quote |
| SLAIN1 Knockout HCT 116 Cell Line | EDJ-KQ74998 | Human | 122060 | Details Get a Quote |
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