MSR1
macrophage scavenger receptor 1
Summary
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]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6985143 | 8:15,966,085 | C/G | — | — |
| rs376017070 | 8:15,967,616 | G/C | — | uncertain significance |
| rs138749399 | 8:15,967,628 | T/C | missense variant | — |
| rs1169072459 | 8:15,967,638 | C/G | — | uncertain significance |
| rs772338992 | 8:15,967,656 | G/A | — | uncertain significance |
| rs1205685022 | 8:15,967,727 | C/G | — | likely pathogenic |
| rs78553524 | 8:15,974,136 | A/T | intron variant | — |
| rs993646387 | 8:15,977,930 | G/C | — | uncertain significance |
| rs1021942681 | 8:15,977,944 | G/A | — | uncertain significance |
| rs562625597 | 8:15,977,955 | G/A | — | benign |
| rs1799974299 | 8:15,977,993 | C/T | — | uncertain significance |
| rs762767495 | 8:15,977,998 | C/A | — | uncertain significance |
| rs35962364 | 8:15,978,021 | G/A | — | benign |
| rs2486293633 | 8:15,978,025 | C/T | — | uncertain significance |
| rs4338104 | 8:15,978,063 | C/T | — | benign |
| rs767608681 | 8:15,978,067 | C/G | — | uncertain significance |
| rs34175190 | 8:15,978,111 | T/C | — | benign |
| rs550192996 | 8:15,978,123 | G/T | — | likely benign |
| rs33988608 | 8:16,001,057 | A/G | — | benign |
| rs1554466908 | 8:16,001,066 | C/G | — | pathogenic |
| rs13306540 | 8:16,001,086 | C/T | — | benign |
| rs1174944723 | 8:16,007,793 | C/T | — | uncertain significance |
| rs142534680 | 8:16,007,800 | C/A | — | uncertain significance |
| rs752534069 | 8:16,007,806 | T/C | — | uncertain significance |
| rs753739746 | 8:16,007,814 | G/T | — | likely pathogenic |
| rs1449628614 | 8:16,012,591 | C/T | — | uncertain significance |
| rs41341748 | 8:16,012,594 | G/A | stop gained | pathogenic |
| rs768360190 | 8:16,012,614 | G/A | — | uncertain significance |
| rs1277165609 | 8:16,012,617 | C/A | — | uncertain significance |
| rs764485699 | 8:16,012,638 | G/A | — | benign |
| rs2229388 | 8:16,012,648 | G/A | missense variant | — |
| rs772978107 | 8:16,012,654 | C/T | — | likely pathogenic |
| rs33959637 | 8:16,012,710 | G/T | intron variant | — |
| rs149600801 | 8:16,017,588 | C/T | intron variant | — |
| rs573558509 | 8:16,021,597 | A/G | — | uncertain significance |
| rs387906645 | 8:16,021,631 | G/C | missense variant | pathogenic |
| rs1274094382 | 8:16,021,633 | T/G | — | uncertain significance |
| rs2486263347 | 8:16,021,634 | C/A | — | uncertain significance |
| rs555965157 | 8:16,021,659 | C/T | — | likely benign |
| rs766853465 | 8:16,021,669 | T/C | — | likely pathogenic |
| rs753392220 | 8:16,021,691 | C/T | — | uncertain significance |
| rs757935690 | 8:16,021,700 | C/T | — | uncertain significance |
| rs1200357580 | 8:16,021,730 | T/C | — | uncertain significance |
| rs201900187 | 8:16,021,753 | C/T | — | uncertain significance |
| rs747912839 | 8:16,025,960 | C/T | — | likely benign |
| rs13306550 | 8:16,025,964 | T/C | splice region variant | benign |
| rs142068602 | 8:16,026,006 | C/G | — | benign |
| rs762529909 | 8:16,026,016 | A/G | — | uncertain significance |
| rs753789642 | 8:16,026,043 | G/A | — | uncertain significance |
| rs377134001 | 8:16,026,055 | A/T | — | benign |
| rs113250199 | 8:16,026,056 | T/C | — | likely benign |
| rs72552387 | 8:16,026,077 | C/A | missense variant | uncertain significance |
| rs76147566 | 8:16,026,115 | G/T | — | benign |
| rs189110338 | 8:16,026,167 | A/T | — | uncertain significance |
| rs773213245 | 8:16,026,206 | T/C | — | uncertain significance |
| rs1348673851 | 8:16,026,220 | T/C | — | uncertain significance |
| rs767898871 | 8:16,026,229 | T/C | — | uncertain significance |
| rs202186703 | 8:16,026,240 | G/A | — | likely benign |
| rs149818618 | 8:16,026,243 | C/T | — | likely benign |
| rs569058358 | 8:16,026,304 | G/A | — | likely benign |
| rs201290061 | 8:16,026,312 | T/G | — | uncertain significance |
| rs774483136 | 8:16,026,358 | G/A | — | likely benign |
| rs868009130 | 8:16,032,696 | C/T | — | uncertain significance |
| rs533130717 | 8:16,032,716 | G/C | — | uncertain significance |
| rs414580 | 8:16,035,302 | T/C | — | — |
| rs150131889 | 8:16,035,394 | C/A | — | likely benign |
| rs201351339 | 8:16,035,422 | G/A | — | conflicting classifications of pathogenicity |
| rs35175081 | 8:16,035,430 | A/C | — | likely pathogenic |
| rs1162286643 | 8:16,035,475 | T/C | — | likely benign |
| rs755499549 | 8:16,035,488 | A/T | — | benign |
| rs377211096 | 8:16,043,721 | G/T | — | likely benign |
| rs182190568 | 8:16,044,935 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.