APOL1 (apolipoprotein L1)

2012-06-01  

Identity

HGNC
APOL1
LOCATION
22q12.3
LOCUSID
8542
ALIAS
APO-L,APOL,APOL-I,FSGS4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8542
MIM: 603743
HGNC: 618
Ensembl: ENSG00000100342

Variants:

dbSNP: 8542
ClinVar: 8542
TCGA: ENSG00000100342
COSMIC: APOL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100342ENST00000319136O14791
ENSG00000100342ENST00000397278O14791
ENSG00000100342ENST00000397279O14791
ENSG00000100342ENST00000422471B1AH95
ENSG00000100342ENST00000422706O14791
ENSG00000100342ENST00000426053O14791
ENSG00000100342ENST00000427990B1AH96
ENSG00000100342ENST00000431184F8WCH3
ENSG00000100342ENST00000433768B1AH95
ENSG00000100342ENST00000438034B1AH94
ENSG00000100342ENST00000439680F8WB77

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
African trypanosomiasisKEGGko05143
African trypanosomiasisKEGGhsa05143
Vesicle-mediated transportREACTOMER-HSA-5653656
Binding and Uptake of Ligands by Scavenger ReceptorsREACTOMER-HSA-2173782
Scavenging of heme from plasmaREACTOMER-HSA-2168880

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
206474242010Association of trypanolytic ApoL1 variants with kidney disease in African Americans.693
206474242010Association of trypanolytic ApoL1 variants with kidney disease in African Americans.693
219973942011APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy.291
206351882010Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene.274
206351882010Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene.274
242064582013APOL1 risk variants, race, and progression of chronic kidney disease.262
126214372003Apolipoprotein L-I is the trypanosome lytic factor of human serum.169
214863852011The APOL1 gene and allograft survival after kidney transplantation.121
160207352005Apolipoprotein L-I promotes trypanosome lysis by forming pores in lysosomal membranes.116
219973922011APOL1 localization in normal kidney and nondiabetic kidney disease.106

Citation

Dessen P

APOL1 (apolipoprotein L1)

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version: http://atlasgeneticsoncology.org/gene/52740/apol1-(apolipoprotein-l1)