SORL1 (sortilin related receptor 1)

2012-12-01  

Identity

HGNC
SORL1
LOCATION
11q24.1
LOCUSID
6653
ALIAS
C11orf32,LR11,LRP9,SORLA,SorLA-1,gp250
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6653
MIM: 602005
HGNC: 11185
Ensembl: ENSG00000137642

Variants:

dbSNP: 6653
ClinVar: 6653
TCGA: ENSG00000137642
COSMIC: SORL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137642ENST00000260197Q92673
ENSG00000137642ENST00000525532E9PPB3
ENSG00000137642ENST00000527934E9PKB0
ENSG00000137642ENST00000532694E9PS32
ENSG00000137642ENST00000534286E9PP43

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382440792024A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting.2
383689332024Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity.0
383689352024Differential effects of SORL1 deficiency on the endo-lysosomal network in human neurons and microglia.0
384998082024SorLA restricts TNFα release from microglia to shape a glioma-supportive brain microenvironment.0
382440792024A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting.2
383689332024Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity.0
383689352024Differential effects of SORL1 deficiency on the endo-lysosomal network in human neurons and microglia.0
384998082024SorLA restricts TNFα release from microglia to shape a glioma-supportive brain microenvironment.0
366524822023Dimerization of the Alzheimer's disease pathogenic receptor SORLA regulates its association with retromer.5
372120982023SORL1 rs1699102 Moderates the Effect of Sex on Language Network.0
374244672023SorLA Protective Function Is Restored by Improving SorLA Protein Maturation in a Subset of Alzheimer's Disease-Associated SORL1 Missense Variants.2
376115862023Cell-type-specific regulation of APOE and CLU levels in human neurons by the Alzheimer's disease risk gene SORL1.8
381321222023Potentially Pathogenic SORL1 Mutations Observed in Autosomal-Dominant Cases of Alzheimer's Disease Do Not Modulate APP Physiopathological Processing.0
366524822023Dimerization of the Alzheimer's disease pathogenic receptor SORLA regulates its association with retromer.5
372120982023SORL1 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)