RPH3A (Rabphilin 3A)
Gene encoding a synaptic vesicle protein involved in exocytosis and neurotransmitter release
Gene Information Card
| Symbol | RPH3A |
|---|---|
| Full Name | rabphilin 3A |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.13 |
| NCBI Gene ID | 22895 ncbi.nlm.nih.gov/gene/22895 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9Y2J0 |
| OMIM ID | 612159 |
| HGNC ID | 10205 |
| Aliases | RPH3A, KIAA0980, Nbla10371 |
Description
RPH3A encodes rabphilin 3A, a synaptic vesicle protein that binds Rab3A and regulates calcium-dependent exocytosis and neurotransmitter release. It is predominantly expressed in the brain and plays a role in synaptic plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered RPH3A expression may affect synaptic vesicle trafficking and neurotransmitter release, contributing to pathophysiology. | PMID: 20628055 |
| Bipolar disorder | Differential expression of RPH3A in postmortem brain tissue suggests involvement in mood regulation. | PMID: 21737563 |
| Autism spectrum disorder | Rare variants in RPH3A have been identified in ASD cohorts, implicating synaptic dysfunction. | PMID: 25363760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Brain (cerebellum) | 10.2 | High |
| Testis | 3.1 | Low |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| HEK293 (embryonic kidney) | 0.5 | Low expression |
| HeLa (cervical carcinoma) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246G>A (p.Gly416Arg) | missense | <0.01% | Unknown functional impact |
| c.1870C>T (p.Arg624Trp) | missense | <0.01% | Reported in autism spectrum disorder |
| c.2140_2141del (p.Leu714fs) | frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu714fs) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RPH3A.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for RPH3A.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent exocytosis | • synaptic vesicle exocytosis |
| • Rab3A binding | • phospholipid binding |
| • cytoplasmic vesicle |
Pathways
• Synaptic vesicle cycle
• Neurotransmitter release
• Rab3A-RPH3A signaling
Protein Summary
Rabphilin 3A is a 704-amino acid protein containing an N-terminal Rab3A-binding domain and two C-terminal C2 domains that bind calcium and phospholipids. It localizes to synaptic vesicles and facilitates calcium-triggered exocytosis. The protein is highly expressed in the brain and is essential for normal synaptic transmission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPH3AL Knockout HEK293 Cell Line | EDJ-KQ6612 | Human | 9501 | Details Get a Quote |
| RPH3A Knockout HEK293 Cell Line | EDJ-KQ7722 | Human | 22895 | Details Get a Quote |
| RPH3AL Knockout A-549 Cell Line | EDJ-KQ30851 | Human | 9501 | Details Get a Quote |
| RPH3AL Knockout HCT 116 Cell Line | EDJ-KQ30852 | Human | 9501 | Details Get a Quote |
| RPH3AL Knockout HeLa Cell Line | EDJ-KQ30853 | Human | 9501 | Details Get a Quote |
| RPH3A Knockout HeLa Cell Line | EDJ-KQ55652 | Human | 22895 | Details Get a Quote |
| RPH3A Knockout A-549 Cell Line | EDJ-KQ64150 | Human | 22895 | Details Get a Quote |
| RPH3A Knockout HCT 116 Cell Line | EDJ-KQ72598 | Human | 22895 | Details Get a Quote |
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