CASKIN1
CASK Interacting Protein 1
Gene Information Card
| Symbol | CASKIN1 |
|---|---|
| Full Name | CASK interacting protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 57524 ncbi.nlm.nih.gov/gene/57524 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q8WXD2 |
| OMIM ID | 609164 |
| HGNC ID | 28987 |
| Aliases | KIAA1306, ANKS2A |
Description
CASKIN1 encodes a protein that interacts with CASK (calcium/calmodulin-dependent serine protein kinase), a scaffold protein involved in synaptic protein targeting and neuronal development. The CASKIN1 protein contains ankyrin repeats and a sterile alpha motif (SAM) domain, suggesting a role in protein-protein interactions and signaling complexes. It is predominantly expressed in the brain and is implicated in neuronal differentiation and synaptic function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of CASKIN1-mediated synaptic scaffolding may impair neuronal signaling | ClinVar: pathogenic variants reported in individuals with neurodevelopmental disorders |
| Autism spectrum disorder | Altered CASKIN1 expression or function may affect synaptic plasticity | OMIM: 609164; rare variants identified in ASD cohorts |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Heart | 1.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| HEK293 (embryonic kidney) | 2.1 | Low endogenous expression |
| U87MG (glioblastoma) | 6.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214C>T (p.Arg72Ter) | Nonsense | Rare | Loss of function; associated with intellectual disability |
| c.1025G>A (p.Arg342Gln) | Missense | Rare | Unknown; predicted damaging by in silico tools |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to premature stop codons are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CASKIN1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CASKIN1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • synaptic signaling |
| • neuron projection development | • ankyrin repeat binding |
Pathways
• CASK signaling pathway
• Synaptic vesicle cycle
Protein Summary
CASKIN1 is a 1,204-amino acid protein containing ankyrin repeats and a SAM domain. It localizes to the cytoplasm and synapses, where it interacts with CASK to regulate neuronal development and synaptic function. The protein is highly expressed in the brain and is essential for proper neuronal connectivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CASKIN1 Knockout HEK293 Cell Line | EDJ-KQ11931 | Human | 57524 | Details Get a Quote |
| CASKIN1 Knockout HeLa Cell Line | EDJ-KQ56857 | Human | 57524 | Details Get a Quote |
| CASKIN1 Knockout A-549 Cell Line | EDJ-KQ65370 | Human | 57524 | Details Get a Quote |
| CASKIN1 Knockout HCT 116 Cell Line | EDJ-KQ73808 | Human | 57524 | Details Get a Quote |
