SNAP91: Synaptosome Associated Protein 91
A key regulator of clathrin-mediated endocytosis in neurons
Gene Information Card
| Symbol | SNAP91 |
|---|---|
| Full Name | Synaptosome Associated Protein 91 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q14.2 |
| NCBI Gene ID | 9892 ncbi.nlm.nih.gov/gene/9892 |
| Ensembl ID | ENSG00000112237 |
| UniProt ID | O60311 |
| OMIM ID | 607923 |
| HGNC ID | 11144 |
| Aliases | AP180, KIAA0656, SNAP-91 |
Description
SNAP91 encodes a neuron-specific clathrin assembly protein (AP180) that is essential for clathrin-mediated endocytosis at synaptic terminals. It regulates synaptic vesicle size and recycling, and is involved in neurotransmitter release. The protein binds clathrin and adaptor protein complex 2 (AP2), facilitating vesicle formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | Altered SNAP91 expression may impair synaptic vesicle recycling, contributing to synaptic dysfunction. | NCBI Gene, ClinVar |
| Intellectual disability | Rare variants in SNAP91 have been associated with neurodevelopmental phenotypes. | ClinVar |
| Schizophrenia | Differential expression of SNAP91 in prefrontal cortex has been reported. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 28.5 | High |
| Brain (cerebellum) | 22.1 | High |
| Brain (hippocampus) | 30.2 | High |
| Testis | 1.2 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.8 | Neuronal model |
| U-87 MG (glioblastoma) | 8.4 | Glial expression |
| HEK293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Unknown functional effect |
| c.1789G>A (p.Gly597Arg) | Missense | <0.01% | Reported in neurodevelopmental delay |
| c.2045_2047del (p.Lys682del) | In-frame deletion | <0.01% | Alters clathrin binding domain |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants in SNAP91 are predicted to impair clathrin-mediated endocytosis, leading to synaptic vesicle recycling defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SNAP91.
Dominant Negative (DN)
Dominant-negative effects are not established; most variants are heterozygous with incomplete penetrance.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Clathrin-mediated endocytosis (KEGG: hsa04144)
• Synaptic vesicle cycle (KEGG: hsa04721)
• Endocytosis (Reactome: R-HSA-199991)
Protein Summary
SNAP91 (AP180) is a 91 kDa neuron-specific protein that functions as a clathrin assembly protein. It contains an N-terminal ANTH domain that binds phosphatidylinositol-4,5-bisphosphate, and a C-terminal clathrin-binding domain. The protein is critical for the formation of uniform small synaptic vesicles and for efficient neurotransmitter release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNAP91 Knockout HEK293 Cell Line | EDJ-KQ6806 | Human | 9892 | Details Get a Quote |
| SNAP91 Knockout HeLa Cell Line | EDJ-KQ55273 | Human | 9892 | Details Get a Quote |
| SNAP91 Knockout A-549 Cell Line | EDJ-KQ63753 | Human | 9892 | Details Get a Quote |
| SNAP91 Knockout HCT 116 Cell Line | EDJ-KQ72213 | Human | 9892 | Details Get a Quote |
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