Identity
HGNC
LOCATION
11q24.1
LOCUSID
ALIAS
C11orf32,LR11,LRP9,SORLA,SorLA-1,gp250
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6653
MIM: 602005
HGNC: 11185
Ensembl: ENSG00000137642
Variants:
dbSNP: 6653
ClinVar: 6653
TCGA: ENSG00000137642
COSMIC: SORL1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolism of proteins | REACTOME | R-HSA-392499 |
| Amyloid fiber formation | REACTOME | R-HSA-977225 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38244079 | 2024 | A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting. | 2 |
| 38368933 | 2024 | Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity. | 0 |
| 38368935 | 2024 | Differential effects of SORL1 deficiency on the endo-lysosomal network in human neurons and microglia. | 0 |
| 38499808 | 2024 | SorLA restricts TNFα release from microglia to shape a glioma-supportive brain microenvironment. | 0 |
| 38244079 | 2024 | A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting. | 2 |
| 38368933 | 2024 | Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity. | 0 |
| 38368935 | 2024 | Differential effects of SORL1 deficiency on the endo-lysosomal network in human neurons and microglia. | 0 |
| 38499808 | 2024 | SorLA restricts TNFα release from microglia to shape a glioma-supportive brain microenvironment. | 0 |
| 36652482 | 2023 | Dimerization of the Alzheimer's disease pathogenic receptor SORLA regulates its association with retromer. | 5 |
| 37212098 | 2023 | SORL1 rs1699102 Moderates the Effect of Sex on Language Network. | 0 |
| 37424467 | 2023 | SorLA Protective Function Is Restored by Improving SorLA Protein Maturation in a Subset of Alzheimer's Disease-Associated SORL1 Missense Variants. | 2 |
| 37611586 | 2023 | Cell-type-specific regulation of APOE and CLU levels in human neurons by the Alzheimer's disease risk gene SORL1. | 8 |
| 38132122 | 2023 | Potentially Pathogenic SORL1 Mutations Observed in Autosomal-Dominant Cases of Alzheimer's Disease Do Not Modulate APP Physiopathological Processing. | 0 |
| 36652482 | 2023 | Dimerization of the Alzheimer's disease pathogenic receptor SORLA regulates its association with retromer. | 5 |
| 37212098 | 2023 | SORL1 rs1699102 Moderates the Effect of Sex on Language Network. | 0 |
Citation
Dessen P
SORL1 (sortilin related receptor 1)
Atlas Genet Cytogenet Oncol Haematol. 2012-12-01
Online version: http://atlasgeneticsoncology.org/gene/53119/sorl1-(sortilin-related-receptor-1)
