CALY (Calcyon Neuron Specific Vesicular Protein)
Gene encoding a neuron-specific vesicular protein involved in dopamine receptor signaling and endocytosis.
Gene Information Card
| Symbol | CALY |
|---|---|
| Full Name | Calcyon Neuron Specific Vesicular Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 50632 ncbi.nlm.nih.gov/gene/50632 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q9NYX4 |
| OMIM ID | 604647 |
| HGNC ID | 17907 |
| Aliases | DRD1IP, calcyon |
Description
CALY encodes calcyon, a neuron-specific vesicular protein that interacts with the dopamine D1 receptor and clathrin light chain, modulating receptor internalization and signaling. It is involved in synaptic plasticity and has been implicated in neuropsychiatric disorders such as schizophrenia and attention deficit hyperactivity disorder (ADHD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered dopamine D1 receptor signaling due to CALY dysregulation | PMID: 15548557 |
| Attention deficit hyperactivity disorder (ADHD) | Genetic association studies link CALY variants to ADHD risk | PMID: 19012866 |
| Bipolar disorder | Potential involvement in dopamine pathway modulation | PMID: 21428778 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Testis | 0.2 | Not detected |
| Heart | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.218C>T (p.Thr73Ile) | Missense | <0.01% | Unknown functional effect |
| c.334G>A (p.Gly112Ser) | Missense | <0.01% | Reported in ADHD cohort |
| c.456_457insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.456_457insA) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CALY.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Dopamine D1 receptor signaling pathway (Reactome: R-HSA-418594)
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
Protein Summary
Calcyon is a 25 kDa neuron-specific vesicular protein that localizes to endosomes and synaptic vesicles. It binds to the dopamine D1 receptor and clathrin light chain, facilitating receptor internalization and modulating downstream cAMP signaling. Calcyon is implicated in synaptic plasticity and neuropsychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CALY Knockout HEK293 Cell Line | EDJ-KQ10789 | Human | 50632 | Details Get a Quote |
| CALY Knockout HeLa Cell Line | EDJ-KQ56178 | Human | 50632 | Details Get a Quote |
| CALY Knockout A-549 Cell Line | EDJ-KQ64669 | Human | 50632 | Details Get a Quote |
| CALY Knockout HCT 116 Cell Line | EDJ-KQ73117 | Human | 50632 | Details Get a Quote |
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