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
379628792024Genome-Wide Polygenic Risk Score for CKD in Individuals with APOL1 High-Risk Genotypes.0
381430382024Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.0
381901412024Evaluating ApoL1 Genetic Testing Policy Options for Transplant Centers: A Delphi Consensus Panel Project with Stakeholders.1
382273702024APOL1-mediated monovalent cation transport contributes to APOL1-mediated podocytopathy in kidney disease.5
382632482024HIF-2α/LINC02609/APOL1-mediated lipid storage promotes endoplasmic reticulum homeostasis and regulates tumor progression in clear-cell renal cell carcinoma.0
383556002024Apolipoprotein L1 (APOL1) renal risk variant-mediated podocyte cytotoxicity depends on African haplotype and surface expression.1
383604812024Phenome-wide analysis reveals epistatic associations between APOL1 variants and chronic kidney disease and multiple other disorders.0
385422982024IFI16 Is Indispensable for Promoting HIF-1α-Mediated APOL1 Expression in Human Podocytes under Hypoxic Conditions.0
387149352024African ancestry-derived APOL1 risk genotypes show proximal epigenetic associations.0
388382232024Interferon-γ induces combined pyroptotic angiopathy and APOL1 expression in human kidney disease.0
379628792024Genome-Wide Polygenic Risk Score for CKD in Individuals with APOL1 High-Risk Genotypes.0
381430382024Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.0
381901412024Evaluating ApoL1 Genetic Testing Policy Options for Transplant Centers: A Delphi Consensus Panel Project with Stakeholders.1
382273702024APOL1-mediated monovalent cation transport contributes to APOL1-mediated podocytopathy in kidney disease.5
382632482024HIF-2α/LINC02609/APOL1-mediated lipid storage promotes endoplasmic reticulum homeostasis and regulates tumor progression in clear-cell renal cell carcinoma.0

Citation

Dessen P

APOL1 (apolipoprotein L1)

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version: http://atlasgeneticsoncology.org/gene/52740