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MGP001967

UniProt Annotations

Entry Information
Gene Namemacrophage scavenger receptor 1
Protein EntryMSRE_HUMAN
UniProt IDP21757
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=I; IsoId=P21757-1; Sequence=Displayed; Name=II; IsoId=P21757-2; Sequence=VSP_006229, VSP_006230; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=III; IsoId=P21757-3; Sequence=VSP_036842;
DiseaseBarrett esophagus (BE) [MIM:614266]: A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes. {ECO:0000269|PubMed:21791690}. Note=The disease may be caused by mutations affecting the gene represented in this entry. Genetic variants in MSR1 have been found in individuals with Barrett esophagus and are thought to contribute to disease susceptibility.
DiseaseProstate cancer (PC) [MIM:176807]: A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. {ECO:0000269|PubMed:12244320}. Note=The disease may be caused by mutations affecting the gene represented in this entry. MSR1 variants may play a role in susceptibility to prostate cancer. MSR1 variants have been found in individuals with prostate cancer and co-segregate with the disease in some families.
FunctionMembrane glycoproteins implicated in the pathologic deposition of cholesterol in arterial walls during atherogenesis. Two types of receptor subunits exist. These receptors mediate the endocytosis of a diverse group of macromolecules, including modified low density lipoproteins (LDL). Isoform III does not internalize acetylated LDL.
InteractionQ86VS8:HOOK3; NbExp=4; IntAct=EBI-1776976, EBI-1777078; Q7TQ77:Hook3 (xeno); NbExp=2; IntAct=EBI-1776976, EBI-1777000;
SimilarityContains 1 collagen-like domain. {ECO:0000305}.
SimilarityContains 1 SRCR domain. {ECO:0000255|PROSITE- ProRule:PRU00196}.
Subcellular LocationMembrane; Single-pass type II membrane protein.
SubunitHomotrimer.
Tissue SpecificityIsoform I, isoform II and isoform III are expressed in monocyte-derived macrophages. {ECO:0000269|PubMed:9548586}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/msr1/";
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