Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4481 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Macrophage scavenger receptor 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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MSR1 |
SynonymsGene synonyms aliases
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CD204, SCARA1, SR-A, SR-AI, SR-AII, SR-AIII, SRA, phSR1, phSR2 |
ChromosomeChromosome number
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8 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8p22 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 ha |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs41341748 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic |
Coding sequence variant, stop gained, missense variant |
rs387906645 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
rs772978107 |
C>A,T |
Likely-pathogenic |
Splice acceptor variant |
rs1554466908 |
C>G |
Pathogenic |
Splice donor variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
P21757 |
Protein name |
Macrophage scavenger receptor types I and II (Macrophage acetylated LDL receptor I and II) (Scavenger receptor class A member 1) (CD antigen CD204) |
Protein function |
Membrane 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 m |
PDB |
7DPX
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF03523 |
Macscav_rec |
121 → 169 |
Macrophage scavenger receptor |
Family |
PF01391 |
Collagen |
271 → 335 |
Collagen triple helix repeat (20 copies) |
Repeat |
PF00530 |
SRCR |
353 → 450 |
Scavenger receptor cysteine-rich domain |
Domain |
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Sequence |
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Sequence length |
451 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Esophageal carcinoma |
Esophageal carcinoma |
rs121912967 |
|
Prostate cancer |
Malignant neoplasm of prostate, Prostate cancer, familial, Familial prostate cancer |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
16998812, 28031937, 12244320, 23141781 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Barrett epithelium |
Barrett Epithelium |
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Barrett esophagus |
Barrett Esophagus, NON RARE IN EUROPE: Barrett esophagus |
rs41341748 |
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Gastroesophageal reflux disease |
Gastroesophageal reflux disease |
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Kidney failure |
Kidney Failure, Chronic |
|
19878707 |
Prostatic neoplasms |
Prostatic Neoplasms |
|
16998812 |
Ulcer of esophagus |
Ulcer of esophagus |
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