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.

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 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
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