SAMSN1 Gene
SAM Domain, SH3 Domain and Nuclear Localization Signals 1
Gene Information Card
| Symbol | SAMSN1 |
|---|---|
| Full Name | SAM domain, SH3 domain and nuclear localization signals 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q11.2 |
| NCBI Gene ID | 64092 ncbi.nlm.nih.gov/gene/64092 |
| Ensembl ID | ENSG00000160207 |
| UniProt ID | Q9NSI8 |
| OMIM ID | 609014 |
| HGNC ID | 10528 |
| Aliases | SASH2, HACS1, SLy2 |
Description
SAMSN1 is a protein-coding gene located on chromosome 21q11.2. It encodes a member of the SLy family of adaptor proteins, characterized by an N-terminal SAM domain, a central SH3 domain, and nuclear localization signals. The protein is involved in intracellular signaling, immune cell regulation, and may function as a tumor suppressor. Expression is predominantly in hematopoietic tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| B-cell acute lymphoblastic leukemia | Potential tumor suppressor; reduced expression may contribute to leukemogenesis | PMID: 15692059 |
| Breast cancer | Downregulated in breast cancer; may inhibit cell proliferation | PMID: 17690110 |
| Prostate cancer | Hypermethylation of SAMSN1 promoter associated with reduced expression | PMID: 21573187 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Medium |
| Whole blood | 6.5 | Low |
| Lung | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.3 | Leukemia cell line |
| Raji | 14.1 | Burkitt lymphoma cell line |
| HEK 293 | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown effect |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • signal transduction (GO:0007165) |
| • negative regulation of cell proliferation (GO:0008285) |
Pathways
• PI3K-Akt signaling pathway (Reactome: R-HSA-1257604)
• Adaptive immune system (Reactome: R-HSA-1280218)
Protein Summary
The SAMSN1 protein (UniProt Q9NSI8) is 428 amino acids long and contains a SAM domain (residues 1-70), an SH3 domain (residues 200-260), and nuclear localization signals. It acts as an adaptor protein in signaling pathways, particularly in hematopoietic cells. The SAM domain mediates protein-protein interactions, while the SH3 domain binds proline-rich motifs. Nuclear localization signals enable shuttling between cytoplasm and nucleus, suggesting roles in transcriptional regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAMSN1 Knockout HEK293 Cell Line | EDJ-KQ15163 | Human | 64092 | Details Get a Quote |
| SAMSN1 Knockout HeLa Cell Line | EDJ-KQ57021 | Human | 64092 | Details Get a Quote |
| SAMSN1 Knockout A-549 Cell Line | EDJ-KQ65527 | Human | 64092 | Details Get a Quote |
| SAMSN1 Knockout HCT 116 Cell Line | EDJ-KQ73961 | Human | 64092 | Details Get a Quote |
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