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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]
MSR1 (Macrophage Scavenger Receptor 1) is a Protein Coding gene. Diseases associated with MSR1 include Barrett Esophagus and Non-Alcoholic Fatty Liver Disease. Among its related pathways are A-beta Uptake and Degradation and Binding and Uptake of Ligands by Scavenger Receptors. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and scavenger receptor activity. An important paralog of this gene is SCARA5.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH08J016192 | Promoter | 0.7 | EPDnew Ensembl | 605 | +375.9 | 375889 | 3.2 | MSR1 piR-48222-340 piR-35002-102 TUSC3 | ||
GH08J016566 | Enhancer | 0.5 | Ensembl | 614 | -1.0 | -1011 | 2.2 | MGA NR2C2 GTF2A2 ZNF584 JUN L3MBTL2 | MSR1 lnc-MSR1-2 lnc-MICU3-2 ENSG00000253184 LOC101929028 FGF20 | |
GH08J016188 | Promoter | 0.3 | EPDnew | 600 | +381.2 | 381198 | 0.1 | MSR1 piR-48222-340 piR-35002-102 TUSC3 | ||
GH08J016603 | Promoter/Enhancer | 1 | Ensembl ENCODE | 21.2 | -36.6 | -36643 | 1.4 | RXRB IRF2 SP1 SOX13 CEBPB MAFF NR2C2 GABPA YY1 ZNF205 | ENSG00000253184 MSR1 lnc-MSR1-2 LOC101929028 ENSG00000253496 FGF20 | |
GH08J016544 | Enhancer | 0.9 | Ensembl dbSUPER | 15.6 | +22.4 | 22389 | 1 | LEF1 SOX6 TCF12 EP300 ZBTB11 MNT MYC TRIM24 NCOR1 CEBPG | MSR1 lnc-MICU3-2 lnc-MSR1-2 piR-32285-090 LOC101929028 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001540 | amyloid-beta binding | IBA,ISS | -- |
GO:0005044 | scavenger receptor activity | TAS | 11240025 |
GO:0005515 | protein binding | IPI | 17237231 |
GO:0030169 | low-density lipoprotein particle binding | IBA,ISS | 12376530 |
GO:0038024 | cargo receptor activity | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005581 | collagen trimer | IEA | -- |
GO:0005829 | cytosol | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 8093617 |
GO:0009897 | external side of plasma membrane | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Binding and Uptake of Ligands by Scavenger Receptors | ||
2 | Phagosome | ||
3 | A-beta Uptake and Degradation | ||
4 | LDL Oxidation in Atherogenesis |
LDL Oxidation in Atherogenesis
-
|
|
5 | Phagocytosis of Microbes |
Phagocytosis of Microbes
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006897 | endocytosis | IEA | -- |
GO:0006898 | receptor-mediated endocytosis | NAS,TAS | -- |
GO:0006911 | phagocytosis, engulfment | ISS | -- |
GO:0010629 | negative regulation of gene expression | ISS | -- |
GO:0010744 | positive regulation of macrophage derived foam cell differentiation | ISS | 12376530 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MSR1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MSR1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MSR1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Msr1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Msr1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MSR1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MSR1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | msr1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CABZ01112729.1 31 |
|
ManyToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712059 | Benign: not provided | 16,120,446(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
714374 | Benign: not provided | 16,143,548(-) | A/G | INTRON_VARIANT | |
714511 | Benign: not provided | 16,143,577(-) | C/T | SYNONYMOUS_VARIANT | |
729324 | Benign: not provided | 16,168,546(-) | A/T | MISSENSE_VARIANT | |
746739 | Likely Benign: not provided | 16,120,614(-) | G/T | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
barrett esophagus |
|
|
non-alcoholic fatty liver disease |
|
|
polycystic ovary syndrome |
|
|
breast cancer |
|
|
prostate cancer |
|