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
172208902007The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.417
161747402005Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein.244
153138362004Loss of apolipoprotein E receptor LR11 in Alzheimer disease.117
205347412010Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.108
222792312012Retromer binds the FANSHY sorting motif in SorLA to regulate amyloid precursor protein sorting and processing.89
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
224728732012High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.81
253657752015Association of Brain DNA methylation in SORL1, ABCA7, HLA-DRB5, SLC24A4, and BIN1 with pathological diagnosis of Alzheimer disease.81
164075382006Interaction of the cytosolic domains of sorLA/LR11 with the amyloid precursor protein (APP) and beta-secretase beta-site APP-cleaving enzyme.76
212206802011Meta-analysis of the association between variants in SORL1 and Alzheimer disease.70

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)