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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CASKIN1
CASK interacting protein 1
Chromosome 16 · 16p13.3
NCBI Gene: 57524Ensembl: ENSG00000167971.16HGNC: HGNC:20879UniProt: Q8WXD9
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingprotein bindingcytoplasmsignal transductionbehavioral variant of frontotemporal dementiagliomahepatocellular carcinomaGriscelli disease
✦AI Summary

CASKIN1 is a multidomain scaffolding protein enriched in neural synapses that mediates synaptic organization and plasticity through multiple molecular mechanisms. Structurally, CASKIN1 contains a CASK interaction domain that binds the conserved peptide motif EEIWVLRK on the CASK calmodulin kinase domain, forming competing CASK/Caskin1/Velis complexes that associate with neurexin at presynaptic sites 1. Adjacent to this domain, tandem sterile α motif (SAM) domains form ionic-strength-sensitive helical polymers that can be decorated with CASK, contributing to active zone cytomatrix organization 2. Uniquely, CASKIN1 possesses an atypical SH3 domain lacking canonical aromatic residues for proline-rich peptide binding; instead, it selectively binds the signaling lipid mediator lysophosphatidic acid (LPA) with nanomolar affinity to LPA-containing membranes, potentially mediating membrane association 3, 4. CASKIN1 dysfunction is implicated in psychiatric disorders. A rare missense variant (D1204N) in the proline-rich region segregates with psychosis in families, causing transcriptomic changes in 368 genes related to neuronal differentiation and altered action potential frequency in iPSC-derived neurons 5. In major depressive disorder, elevated miR-21-5p downregulates CASKIN1 expression in excitatory neurons, reducing neural connectivity and synaptic plasticity 6. These findings establish CASKIN1 as a critical regulator of synaptic organization with direct relevance to psychiatric disease pathogenesis.

Sources cited
1
CASKIN1 binds CASK via the EEIWVLRK peptide motif and forms competing CASK/Caskin1/Velis complexes at presynaptic sites
PMID: 21763699
2
CASKIN1 SAM domains form ionic-strength-sensitive helical polymers that organize active zone cytomatrix with CASK
PMID: 22153505
3
CASKIN1 SH3 domain selectively binds lysophosphatidic acid (LPA) with nanomolar affinity to membranes, not proline-rich peptides
PMID: 28104445
4
Solution NMR structure confirms CASKIN1 SH3 domain lacks canonical peptide-binding groove and mediates LPA binding for membrane association
PMID: 33467043
5
Rare missense variant D1204N in CASKIN1 segregates with psychosis and causes altered transcriptomics and neural activity in iPSC neurons
PMID: 36672919
6
In major depressive disorder, elevated miR-21-5p downregulates CASKIN1 in excitatory neurons, reducing synaptic plasticity
PMID: 40243907
Disease Associationsⓘ20
behavioral variant of frontotemporal dementiaOpen Targets
0.05Suggestive
gliomaOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
Griscelli diseaseOpen Targets
0.04Suggestive
Pick diseaseOpen Targets
0.04Suggestive
childhood disintegrative disorderOpen Targets
0.04Suggestive
uncombable hair syndromeOpen Targets
0.04Suggestive
amyotrophic lateral sclerosisOpen Targets
0.04Suggestive
frontotemporal dementiaOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
N-acetylaspartate deficiencyOpen Targets
0.04Suggestive
15q11q13 microduplication syndromeOpen Targets
0.04Suggestive
neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalitiesOpen Targets
0.03Suggestive
Griscelli disease type 1Open Targets
0.03Suggestive
Griscelli syndrome type 1Open Targets
0.03Suggestive
Griscelli disease type 3Open Targets
0.03Suggestive
Griscelli syndrome type 3Open Targets
0.03Suggestive
juvenile Huntington diseaseOpen Targets
0.03Suggestive
early-onset autosomal dominant Alzheimer diseaseOpen Targets
0.03Suggestive
intellectual disability, autosomal dominant 50Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LRRTM2Shared pathway100%LRFN1Shared pathway100%APBA1Protein interaction84%CASKProtein interaction84%NRXN1Protein interaction84%LRFN4Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Heart
17%
Ovary
5%
Liver
1%
Bone Marrow
1%
Lung
0%
Gene Interaction Network
Click a node to explore
CASKIN1LRRTM2LRFN1APBA1CASKNRXN1LRFN4
PROTEIN STRUCTURE
Preparing viewer…
PDB3SEI · 2.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.47 [0.37–0.61]
RankingsWhere CASKIN1 stands among ~20K protein-coding genes
  • #14,377of 20,598
    Most Researched19
  • #4,286of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedCASKIN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Solution NMR Structure of the SH3 Domain of Human Caskin1 Validates the Lack of a Typical Peptide Binding Groove and Supports a Role in Lipid Mediator Binding.
PMID: 33467043
Cells · 2021
1.00
2
Exploring Male-Specific Synaptic Plasticity in Major Depressive Disorder: A Single-Nucleus Transcriptomic Analysis Using Bioinformatics Methods.
PMID: 40243907
Int J Mol Sci · 2025
0.90
3
A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation Family.
PMID: 36672919
Genes (Basel) · 2023
0.80
4
The molecular basis of the Caskin1 and Mint1 interaction with CASK.
PMID: 21763699
J Mol Biol · 2011
0.70
5
A new mode of SAM domain mediated oligomerization observed in the CASKIN2 neuronal scaffolding protein.
PMID: 27549312
Cell Commun Signal · 2016
0.60