SORT1 (sortilin 1)

2009-01-01  

Identity

HGNC
SORT1
LOCATION
1p13.3
LOCUSID
6272
ALIAS
Gp95,LDLCQ6,NT3,NTR3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6272
MIM: 602458
HGNC: 11186
Ensembl: ENSG00000134243

Variants:

dbSNP: 6272
ClinVar: 6272
TCGA: ENSG00000134243
COSMIC: SORT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134243ENST00000256637Q99523
ENSG00000134243ENST00000471996A0A0J9YVU2
ENSG00000134243ENST00000482236A0A0J9YVX1
ENSG00000134243ENST00000493736A0A0J9YX61
ENSG00000134243ENST00000538502Q99523
ENSG00000134243ENST00000633956A0A0J9YY30

Expression (GTEx)

0
50
100
150
200
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
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Neurotrophin signaling pathwayKEGGko04722
Neurotrophin signaling pathwayKEGGhsa04722
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722

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
181930432008Newly identified loci that influence lipid concentrations and risk of coronary artery disease.690
181930442008Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.575
191986092009Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.460
206865662010From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.446
209713642010A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.181
208160882010Sort1, encoded by the cardiovascular risk locus 1p13.3, is a regulator of hepatic lipoprotein export.81
227511032012Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism.75
146570162003The lysosomal trafficking of sphingolipid activator proteins (SAPs) is mediated by sortilin.69
180883232008SNX1 defines an early endosomal recycling exit for sortilin and mannose 6-phosphate receptors.60
191482832009Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.56

Citation

Dessen P

SORT1 (sortilin 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-01-01

Online version: http://atlasgeneticsoncology.org/gene/50638/sort1