MSR1 Chromosome 8
Macrophage scavenger receptor 1
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What This Gene Does
This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|Scavenger receptors|Scavenger receptor cysteine rich domain containing"
Locus Type
gene with protein product
Location
8p22
Ensembl
ENSG00000038945
Associated Conditions (7)
Ovarian cancer
Prostate cancer
Hereditary cancer-predisposing syndrome
X-linked Alport syndrome
Barrett esophagus
MSR1-related disorder
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA
Key Variants
RS201351339
Conflicting classifications of pathogenicity
Ovarian cancer, Ovarian cancer
Health Risk
RS41341748
Conflicting classifications of pathogenicity
Prostate cancer, Hereditary cancer-predisposing syndrome, X-linked Alport syndrome
Health Risk
RS1205685022
Likely pathogenic
Ovarian cancer, Ovarian cancer
Health Risk
RS35175081
Likely pathogenic
Ovarian cancer, Ovarian cancer
Health Risk
RS753739746
Likely pathogenic
Ovarian cancer, Ovarian cancer
Health Risk
RS766853465
Likely pathogenic
Ovarian cancer, Ovarian cancer
Health Risk
RS772978107
Likely pathogenic
Health Risk
RS1554466908
Pathogenic
Health Risk
RS387906645
Pathogenic
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA, BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201351339 | Health Risk | Conflicting classifications of pathogenicity | Ovarian cancer, Ovarian cancer |
| RS41341748 | Health Risk | Conflicting classifications of pathogenicity | Prostate cancer, Hereditary cancer-predisposing syndrome, X-linked Alport syndrome |
| RS1205685022 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS35175081 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS753739746 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS766853465 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS772978107 | Health Risk | Likely pathogenic | — |
| RS1554466908 | Health Risk | Pathogenic | — |
| RS387906645 | Health Risk | Pathogenic | BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA, BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA |