SHANK1 Gene - SH3 and Multiple Ankyrin Repeat Domains 1
Key scaffold protein in postsynaptic density of excitatory synapses
Gene Information Card
| Symbol | SHANK1 |
|---|---|
| Full Name | SH3 and multiple ankyrin repeat domains 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 50944 ncbi.nlm.nih.gov/gene/50944 |
| Ensembl ID | ENSG00000161681 |
| UniProt ID | Q9Y566 |
| OMIM ID | 604999 |
| HGNC ID | 15423 |
| Aliases | SSTRIP, SPANK-1, PRO4408 |
Description
SHANK1 encodes a scaffold protein localized to the postsynaptic density of excitatory synapses. It contains multiple ankyrin repeats, an SH3 domain, a PDZ domain, a proline-rich region, and a sterile alpha motif (SAM) domain. SHANK1 interacts with other postsynaptic proteins to organize the glutamate receptor signaling complex and regulate dendritic spine morphology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Disruption of SHANK1-mediated synaptic scaffolding alters glutamatergic signaling and spine development | PMID: 22284121, ClinVar |
| Intellectual disability | Loss-of-function variants impair synaptic plasticity and cognitive function | PMID: 23092986, ClinVar |
| Schizophrenia | Rare variants may contribute to synaptic dysfunction in prefrontal cortex | PMID: 25056061 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 18.3 | High |
| Hippocampus | 15.7 | High |
| Cerebellum | 8.9 | Medium |
| Testis | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 6.4 | Neuroblastoma cell line |
| U-87 MG | 3.2 | Glioblastoma cell line |
| HEK293 | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2269C>T (p.Arg757Ter) | Nonsense | Rare | Loss of function; truncation of C-terminal SAM domain |
| c.3673_3674del (p.Leu1225ValfsTer2) | Frameshift | Rare | Loss of function; premature termination |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Unknown; located in PDZ domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay; associated with autism and intellectual disability.
Gain of Function (GOF)
Not reported for SHANK1.
Dominant Negative (DN)
Not reported for SHANK1.
View complete mutation data：
Gene Ontology (GO)
| • cell junction (GO:0030054) | • synapse (GO:0045202) |
| • postsynaptic density (GO:0014069) | • protein binding (GO:0005515) |
| • cell differentiation (GO:0030154) |
Pathways
• Synaptic signaling pathway (Reactome R-HSA-112316)
• Glutamatergic synapse (KEGG hsa04724)
• Long-term potentiation (KEGG hsa04720)
Protein Summary
SHANK1 is a 2170-amino-acid scaffold protein that assembles signaling complexes at the postsynaptic density. It links glutamate receptors to the actin cytoskeleton and regulates dendritic spine shape and synaptic strength. The protein is highly expressed in brain regions involved in learning and memory.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SHANK1 Knockout HEK293 Cell Line | EDJ-KQ10130 | Human | 50944 | Details Get a Quote |
| SHANK1 Knockout HeLa Cell Line | EDJ-KQ56204 | Human | 50944 | Details Get a Quote |
| SHANK1 Knockout A-549 Cell Line | EDJ-KQ64694 | Human | 50944 | Details Get a Quote |
| SHANK1 Knockout HCT 116 Cell Line | EDJ-KQ73141 | Human | 50944 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
