CADPS
Calcium Dependent Secretion Activator
Gene Information Card
| Symbol | CADPS |
|---|---|
| Full Name | Calcium Dependent Secretion Activator |
| Gene Type | protein-coding |
| Chromosomal Location | 3p14.2 |
| NCBI Gene ID | 8618 ncbi.nlm.nih.gov/gene/8618 |
| Ensembl ID | ENSG00000163636 |
| UniProt ID | Q9ULU8 |
| OMIM ID | 604667 |
| HGNC ID | 1429 |
| Aliases | CAPS1, CAPS, KIAA1121 |
Description
The CADPS gene encodes a calcium-dependent secretion activator (CAPS1) that is essential for the exocytosis of dense core vesicles, including neurotransmitters and hormones. It functions by priming vesicles for calcium-triggered fusion at the plasma membrane.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and speech delay | Impaired vesicle exocytosis due to CADPS loss-of-function variants | ClinVar |
| Autism spectrum disorder | Disruption of synaptic vesicle release mechanisms | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Adrenal gland | 8.5 | Medium |
| Pancreas | 6.1 | Low |
| Testis | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 12.5 | Neuroblastoma cell line |
| HeLa | 3.2 | Cervical carcinoma |
| HEK293 | 2.8 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants lead to truncated protein and loss of secretion activator function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • exocytosis (GO:0006887) | • synaptic vesicle exocytosis (GO:0016079) |
| • phosphatidylinositol-4 (GO:0005546) | • SNARE binding (GO:0000149) |
| • synaptic vesicle membrane (GO:0030672) |
Pathways
• Neurotransmitter release cycle (Reactome R-HSA-112310)
• Regulation of insulin secretion (Reactome R-HSA-422356)
Protein Summary
The CADPS protein (CAPS1) is a 1355-amino acid calcium-binding protein that localizes to dense core vesicle membranes. It contains a pleckstrin homology domain for membrane binding and a Munc13 homology domain for SNARE complex assembly. CAPS1 is critical for calcium-dependent exocytosis in neurons and endocrine cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CADPS Knockout HEK293 Cell Line | EDJ-KQ6302 | Human | 8618 | Details Get a Quote |
| CADPS2 Knockout HEK293 Cell Line | EDJ-KQ11255 | Human | 93664 | Details Get a Quote |
| CADPS2 Knockout HCT 116 Cell Line | EDJ-KQ39351 | Human | 93664 | Details Get a Quote |
| CADPS Knockout HeLa Cell Line | EDJ-KQ54955 | Human | 8618 | Details Get a Quote |
| CADPS2 Knockout HeLa Cell Line | EDJ-KQ57870 | Human | 93664 | Details Get a Quote |
| CADPS Knockout A-549 Cell Line | EDJ-KQ63440 | Human | 8618 | Details Get a Quote |
| CADPS2 Knockout A-549 Cell Line | EDJ-KQ66365 | Human | 93664 | Details Get a Quote |
| CADPS Knockout HCT 116 Cell Line | EDJ-KQ71907 | Human | 8618 | Details Get a Quote |
