SLAMF1
Signaling Lymphocytic Activation Molecule Family Member 1
Gene Information Card
| Symbol | SLAMF1 |
|---|---|
| Full Name | Signaling Lymphocytic Activation Molecule Family Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 6504 ncbi.nlm.nih.gov/gene/6504 |
| Ensembl ID | ENSG00000117090 |
| UniProt ID | Q13291 |
| OMIM ID | 603492 |
| HGNC ID | 10908 |
| Aliases | CD150, SLAM, IPO-3 |
Description
SLAMF1 (Signaling Lymphocytic Activation Molecule Family Member 1), also known as CD150, is a cell surface glycoprotein belonging to the immunoglobulin superfamily. It is expressed on hematopoietic cells and functions as a co-stimulatory receptor in immune responses. SLAMF1 serves as the primary receptor for measles virus entry into host cells. It is involved in T-cell and B-cell activation, cytokine production, and natural killer cell regulation. Mutations and altered expression of SLAMF1 are associated with lymphoproliferative disorders and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lymphoma (e.g., Hodgkin lymphoma) | Overexpression of SLAMF1 on malignant cells may promote tumor immune evasion through altered signaling. | COSMIC; NCBI Gene |
| Measles virus infection | SLAMF1 acts as the cellular receptor for measles virus (MV) via the viral hemagglutinin protein. | UniProt; NCBI Gene |
| Systemic lupus erythematosus (SLE) | Polymorphisms in SLAMF1 are associated with increased risk of SLE, possibly due to altered immune cell signaling. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.3 | Medium |
| Lymph node | 9.8 | Medium |
| Peripheral blood leukocytes | 15.1 | High |
| Thymus | 7.2 | Low |
| Bone marrow | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 18.5 | High expression |
| Jurkat (T-cell leukemia) | 11.2 | Moderate expression |
| K562 (chronic myeloid leukemia) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not expressed |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.500G>A (p.Arg167His) | Missense | <0.01% (rare) | May alter ligand binding; reported in ClinVar as variant of uncertain significance |
| c.763C>T (p.Arg255Trp) | Missense | <0.01% | Associated with SLE susceptibility in some populations |
| c.1120_1121insA | Frameshift | <0.01% | Predicted loss of function; reported in COSMIC in lymphoma samples |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1120_1121insA) leading to premature stop codons are predicted to result in loss of SLAMF1 protein function.
Gain of Function (GOF)
No well-characterized gain-of-function mutations are currently reported in the literature or curated databases.
Dominant Negative (DN)
No dominant-negative mutations have been described for SLAMF1.
View complete mutation data:
Gene Ontology (GO)
| • transmembrane signaling receptor activity (GO:0004888) | • protein binding (GO:0005515) |
| • signal transduction (GO:0007165) | • integral component of membrane (GO:0016021) |
| • positive regulation of T cell proliferation (GO:0042102) | • innate immune response (GO:0045087) |
Pathways
• SLAM family signaling pathway (Reactome: R-HSA-2132295)
• Measles virus infection (KEGG: hsa05162)
• Adaptive immune system (Reactome: R-HSA-1280218)
Protein Summary
SLAMF1 is a type I transmembrane protein with an extracellular region containing two immunoglobulin-like domains (V-set and C2-set) and a cytoplasmic tail with immunoreceptor tyrosine-based switch motifs (ITSMs). It is expressed primarily on hematopoietic cells and functions as a self-ligand receptor, mediating homophilic adhesion and co-stimulatory signals. Upon ligand binding, SLAMF1 recruits SH2-domain-containing proteins such as SAP (SH2D1A) and SHP-2, modulating immune cell activation. It is also exploited by measles virus as a receptor for entry into host cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLAMF1 Knockout HEK293 Cell Line | EDJ-KQ5757 | Human | 6504 | Details Get a Quote |
| SLAMF1 Knockout HeLa Cell Line | EDJ-KQ54477 | Human | 6504 | Details Get a Quote |
| SLAMF1 Knockout A-549 Cell Line | EDJ-KQ62963 | Human | 6504 | Details Get a Quote |
| SLAMF1 Knockout HCT 116 Cell Line | EDJ-KQ71435 | Human | 6504 | Details Get a Quote |