SYAP1: Synapse Associated Protein 1
A gene encoding a protein involved in synaptic vesicle trafficking and neuronal function.
Gene Information Card
| Symbol | SYAP1 |
|---|---|
| Full Name | Synapse Associated Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.12 |
| NCBI Gene ID | 94056 ncbi.nlm.nih.gov/gene/94056 |
| Ensembl ID | ENSG00000147180 |
| UniProt ID | Q96A49 |
| OMIM ID | 300694 |
| HGNC ID | 28737 |
| Aliases | PRO2675, HSPC229, SYAP1 |
Description
SYAP1 (Synapse Associated Protein 1) is a protein-coding gene located on the X chromosome. The encoded protein is involved in synaptic vesicle trafficking and may play a role in neuronal development and function. It is expressed in various tissues, with higher levels in the brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, X-linked | Potential disruption of synaptic function | OMIM #300694 |
| Autism spectrum disorder | Altered synaptic protein interactions | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Lung | 5.1 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.3 | Neuronal cell line |
| HEK293 | 7.1 | Embryonic kidney |
| HeLa | 4.5 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle transport | • protein binding |
| • cytoplasm | • synapse |
Pathways
• Synaptic vesicle cycle
• Neuronal system
Protein Summary
SYAP1 encodes a 267-amino acid protein that localizes to the cytoplasm and is associated with synaptic vesicles. It may regulate vesicle trafficking and neurotransmitter release, contributing to normal synaptic transmission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYAP1 Knockout HEK293 Cell Line | EDJ-KQ11279 | Human | 94056 | Details Get a Quote |
| SYAP1 Knockout A-549 Cell Line | EDJ-KQ39383 | Human | 94056 | Details Get a Quote |
| SYAP1 Knockout HCT 116 Cell Line | EDJ-KQ39384 | Human | 94056 | Details Get a Quote |
| SYAP1 Knockout HeLa Cell Line | EDJ-KQ39385 | Human | 94056 | Details Get a Quote |
