SSH1 (Slingshot Protein Phosphatase 1)
Gene encoding a dual-specificity phosphatase that regulates actin dynamics by dephosphorylating cofilin.
Gene Information Card
| Symbol | SSH1 |
|---|---|
| Full Name | Slingshot Protein Phosphatase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.11 |
| NCBI Gene ID | 54434 ncbi.nlm.nih.gov/gene/54434 |
| Ensembl ID | ENSG00000168404 |
| UniProt ID | Q8WYL5 |
| OMIM ID | 606778 |
| HGNC ID | 30579 |
| Aliases | SSH-1L, SSH1L, slingshot 1 |
Description
SSH1 encodes a member of the slingshot family of dual-specificity phosphatases. The protein dephosphorylates and activates cofilin, an actin-binding protein, thereby promoting actin filament severing and depolymerization. SSH1 plays a critical role in actin cytoskeleton remodeling, cell migration, and neuronal growth cone dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of SSH1 alters cofilin activity, affecting cell migration and invasion. Overexpression observed in breast, lung, and colorectal cancers. | COSMIC; PubMed studies |
| Neurodevelopmental disorders | SSH1 variants may disrupt actin dynamics in neurons, potentially contributing to intellectual disability or autism spectrum conditions. | ClinVar; limited case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 8.5 | Low |
| Liver | 3.1 | Low |
| Kidney | 12.4 | Medium |
| Testis | 20.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | Embryonic kidney; high expression |
| HeLa | 22.1 | Cervical carcinoma; high expression |
| MCF7 | 14.3 | Breast cancer; moderate expression |
| A549 | 9.8 | Lung carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg145Trp | Missense | <0.01% | Potential loss of phosphatase activity |
| p.Glu287Lys | Missense | <0.01% | Unknown functional impact |
| c.1023+1G>A | Splice donor | <0.01% | Likely disrupts splicing |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain (e.g., p.Arg145Trp) are predicted to impair cofilin dephosphorylation, reducing actin turnover.
Gain of Function (GOF)
Not well documented; overexpression in tumors may lead to increased cofilin activity and enhanced cell motility.
Dominant Negative (DN)
No confirmed dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • protein tyrosine phosphatase activity |
| • actin cytoskeleton organization | • cofilin dephosphorylation |
| • cell migration |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Cofilin signaling
Protein Summary
SSH1 is a 1049-amino acid dual-specificity phosphatase that localizes to the cytoplasm and lamellipodia. It contains an N-terminal F-actin-binding domain and a C-terminal catalytic phosphatase domain. SSH1 specifically dephosphorylates cofilin at Ser3, restoring its actin-severing activity. The protein is regulated by phosphorylation and interaction with F-actin, and its activity is crucial for cell motility, neurite extension, and immune cell chemotaxis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SSH1 Knockout HEK293 Cell Line | EDJ-KQ11411 | Human | 54434 | Details Get a Quote |
| SSH1 Knockout A-549 Cell Line | EDJ-KQ39641 | Human | 54434 | Details Get a Quote |
| SSH1 Knockout HCT 116 Cell Line | EDJ-KQ39642 | Human | 54434 | Details Get a Quote |
| SSH1 Knockout HeLa Cell Line | EDJ-KQ39643 | Human | 54434 | Details Get a Quote |
