SYPL1 Gene (Synaptophysin Like 1)
A comprehensive resource for SYPL1 gene information, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | SYPL1 |
|---|---|
| Full Name | Synaptophysin Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.3 |
| NCBI Gene ID | 6856 ncbi.nlm.nih.gov/gene/6856 |
| Ensembl ID | ENSG00000106333 |
| UniProt ID | Q16563 |
| OMIM ID | 616654 |
| HGNC ID | 11491 |
| Aliases | H-SP1, PANTOPHYSIN, SYPL1 |
Description
SYPL1 (synaptophysin like 1) is a protein-coding gene that encodes pantophysin, a member of the synaptophysin family. Pantophysin is a vesicle membrane protein involved in intracellular trafficking and is expressed in various tissues, particularly in the brain and endocrine cells. The gene is located on chromosome 7q22.3 and is associated with certain neurodevelopmental and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss of function of SYPL1 leads to impaired vesicle trafficking in neurons, affecting synaptic function and brain development. | ClinVar, OMIM |
| Obesity | SYPL1 variants may influence energy homeostasis and adipocyte function through altered vesicle transport. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Adipose tissue | 8.2 | Medium |
| Pancreas | 6.1 | Medium |
| Liver | 2.3 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | High expression; relevant for neuronal studies |
| HeLa (cervical carcinoma) | 4.5 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.485A>G (p.Asn162Ser) | Missense | Unknown | Likely damaging; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent pantophysin protein, impairing vesicle trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported for SYPL1.
Dominant Negative (DN)
No dominant-negative mutations reported for SYPL1.
View complete mutation data：
Gene Ontology (GO)
| • vesicle-mediated transport | • synaptic vesicle membrane |
| • protein transport | • intracellular protein transport |
| • membrane |
Pathways
• Synaptic vesicle cycle
• Membrane trafficking
Protein Summary
Pantophysin (SYPL1) is a 29 kDa integral membrane protein with four transmembrane domains, localized to small synaptic-like vesicles and secretory vesicles. It is involved in vesicle biogenesis and trafficking, particularly in neurons and endocrine cells. The protein shares structural homology with synaptophysin and is widely expressed in non-neuronal tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYPL1 Knockout HEK293 Cell Line | EDJ-KQ2523 | Human | 6856 | Details Get a Quote |
| SYPL1 Knockout A-549 Cell Line | EDJ-KQ24522 | Human | 6856 | Details Get a Quote |
| SYPL1 Knockout HCT 116 Cell Line | EDJ-KQ24524 | Human | 6856 | Details Get a Quote |
| SYPL1 Knockout HeLa Cell Line | EDJ-KQ24525 | Human | 6856 | Details Get a Quote |
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