MSR1: Macrophage Scavenger Receptor 1

Key regulator of macrophage function, lipid metabolism, and innate immunity

Gene Information Card

Symbol MSR1
Full Name macrophage scavenger receptor 1
Gene Type protein-coding
Chromosomal Location 8p22
NCBI Gene ID 4481 ncbi.nlm.nih.gov/gene/4481
Ensembl ID ENSG00000038945
UniProt ID P21757
OMIM ID 153622
HGNC ID 7376
Aliases CD204, SCARA1, SR-A, SR-AI, SR-AII, phSR1, phSR2

Description

MSR1 encodes the macrophage scavenger receptor types I and II, which are trimeric integral membrane glycoproteins. These receptors mediate the endocytosis of a broad range of negatively charged macromolecules, including modified low-density lipoproteins (LDL), apoptotic cells, and pathogens. MSR1 plays a critical role in macrophage function, foam cell formation in atherosclerosis, host defense, and clearance of cellular debris. Alternative splicing generates multiple transcript variants.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Atherosclerosis MSR1 mediates uptake of oxidized LDL by macrophages, leading to foam cell formation and plaque development. OMIM #153622; NCBI Gene; multiple association studies
Alzheimer disease MSR1 may contribute to amyloid-beta clearance and neuroinflammation; polymorphisms associated with risk. ClinVar; NCBI Gene; literature review
Prostate cancer Loss-of-function variants in MSR1 have been associated with increased risk of prostate cancer. OMIM #153622; COSMIC; ClinVar
Macrophage activation syndrome Dysregulated MSR1 expression linked to excessive inflammatory responses. NCBI Gene; literature
Infectious diseases (tuberculosis, malaria) MSR1 acts as a pattern recognition receptor for microbial ligands, influencing host susceptibility. UniProt; NCBI Gene

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 Medium
Lung 8.3 Medium
Spleen 15.1 High
Blood (whole) 6.7 Low
Brain 2.1 Low
Adipose tissue 4.9 Low
Cell Line Expression
Cell Line nTPM Notes
THP-1 (monocyte) 18.2 High expression after PMA differentiation
U937 (histiocytic lymphoma) 14.5 High expression after differentiation
HepG2 (hepatocellular carcinoma) 3.1 Low expression
A549 (lung carcinoma) 1.8 Very low expression
MCF7 (breast adenocarcinoma) 0.9 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.877C>T (p.Arg293*) Nonsense Rare Loss of function; associated with prostate cancer risk
c.1323_1324del (p.Arg442Glufs*2) Frameshift Rare Loss of function; reported in prostate cancer
c.877C>A (p.Arg293Ser) Missense Rare Unknown functional effect; reported in ClinVar
c.1A>G (p.Met1?) Start loss Rare Likely loss of function; reported in ClinVar
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations (e.g., p.Arg293*, p.Arg442Glufs*2) result in truncated or absent protein, reducing scavenger receptor activity and increasing susceptibility to prostate cancer.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported in MSR1.

Dominant Negative (DN)

No dominant-negative mutations described for MSR1.

Pathways

Scavenger receptors in atherosclerosis (Reactome: R-HSA-3000471)
Innate immune system (Reactome: R-HSA-168249)
Endocytosis (Reactome: R-HSA-199991)
Clearance of apoptotic cells (Reactome: R-HSA-3000480)

Protein Summary

MSR1 encodes a trimeric membrane glycoprotein (macrophage scavenger receptor) that binds a wide variety of ligands, including modified LDL, apoptotic cells, and bacterial components. The protein is composed of a cytoplasmic domain, a transmembrane region, and an extracellular domain containing a collagen-like region and a cysteine-rich domain. Alternative splicing produces two major isoforms (type I and type II) that differ in their C-terminal domains. MSR1 is primarily expressed on macrophages and dendritic cells, where it mediates endocytosis, phagocytosis, and inflammatory signaling. It is implicated in atherosclerosis, Alzheimer disease, and cancer.

Related Products

Product name Cat.No. Species Gene ID
MSR1 Knockout HEK293 Cell Line EDJ-KQ5245 Human 4481 Details Get a Quote
MSR1 Knockout HeLa Cell Line EDJ-KQ53906 Human 4481 Details Get a Quote
MSR1 Knockout A-549 Cell Line EDJ-KQ62398 Human 4481 Details Get a Quote
MSR1 Knockout HCT 116 Cell Line EDJ-KQ70866 Human 4481 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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