AMPH Gene - Amphiphysin
A key regulator of clathrin-mediated endocytosis and synaptic vesicle recycling
Gene Information Card
| Symbol | AMPH |
|---|---|
| Full Name | Amphiphysin |
| Gene Type | Protein coding |
| Chromosomal Location | 7p14.1 |
| NCBI Gene ID | 273 ncbi.nlm.nih.gov/gene/273 |
| Ensembl ID | ENSG00000178053 |
| UniProt ID | P49418 |
| OMIM ID | 600418 |
| HGNC ID | 471 |
| Aliases | AMPH1, amphiphysin I |
Description
The AMPH gene encodes amphiphysin, a protein involved in clathrin-mediated endocytosis and synaptic vesicle recycling. It contains an N-terminal BAR domain that binds membranes and a C-terminal SH3 domain that interacts with dynamin and synaptojanin. Amphiphysin is highly expressed in the brain and is also implicated in cancer and autoimmune neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Stiff person syndrome (paraneoplastic) | Autoantibodies against amphiphysin disrupt GABAergic synaptic vesicle endocytosis, leading to hyperexcitability | ClinVar, OMIM |
| Breast cancer | Reduced AMPH expression correlates with poor prognosis; loss of endocytic regulation may promote oncogenic signaling | COSMIC, NCBI |
| Lung cancer | Somatic mutations and altered expression observed in non-small cell lung cancer | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 35.2 | High |
| Adrenal gland | 8.1 | Medium |
| Testis | 6.5 | Medium |
| Heart | 2.3 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 28.4 | High neuronal expression |
| U-87 MG (glioblastoma) | 15.2 | Moderate |
| MCF7 (breast cancer) | 3.1 | Low |
| HeLa (cervical cancer) | 1.8 | Low |
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; reported in ClinVar as variant of uncertain significance |
| c.1450G>A (p.Gly484Ser) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.1687_1688insA (p.Leu563fs) | Frameshift | <0.01% | Predicted loss of function; reported in COSMIC for lung cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of amphiphysin function, impairing endocytosis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for AMPH.
Dominant Negative (DN)
Missense mutations in the SH3 domain may act as dominant negative by disrupting dynamin binding.
View complete mutation data：
Gene Ontology (GO)
| • clathrin-dependent endocytosis (GO:0072583) | • synaptic vesicle endocytosis (GO:0048488) |
| • lipid binding (GO:0008289) | • SH3 domain binding (GO:0017124) |
| • plasma membrane (GO:0005886) | • cytoplasmic vesicle (GO:0031410) |
Pathways
• Clathrin-mediated endocytosis (Reactome R-HSA-8856825)
• Synaptic vesicle cycle (KEGG hsa04721)
Protein Summary
Amphiphysin is a 695-amino acid protein with a BAR domain that senses and induces membrane curvature, and an SH3 domain that recruits dynamin and synaptojanin to sites of endocytosis. It is essential for synaptic vesicle recycling in neurons and also functions in non-neuronal cells to regulate receptor internalization. Autoantibodies against amphiphysin are associated with paraneoplastic Stiff person syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMPH Knockout HEK293 Cell Line | EDJ-KQ3471 | Human | 273 | Details Get a Quote |
| AMPH Knockout HeLa Cell Line | EDJ-KQ52610 | Human | 273 | Details Get a Quote |
| AMPH Knockout A-549 Cell Line | EDJ-KQ61089 | Human | 273 | Details Get a Quote |
| AMPH Knockout HCT 116 Cell Line | EDJ-KQ69572 | Human | 273 | Details Get a Quote |
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