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Aliases for APOL1 Gene

Aliases for APOL1 Gene

  • Apolipoprotein L1 2 3 5
  • Apolipoprotein L 2 4
  • APOL-I 3 4
  • APO-L 3 4
  • APOL 3 4
  • Apolipoprotein L 1 3
  • Apolipoprotein L-I 4
  • FSGS4 3

External Ids for APOL1 Gene

Previous HGNC Symbols for APOL1 Gene

  • APOL

Previous GeneCards Identifiers for APOL1 Gene

  • GC22P033292
  • GC22P034920
  • GC22P034973
  • GC22P036649
  • GC22P019617

Summaries for APOL1 Gene

Entrez Gene Summary for APOL1 Gene

  • This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

GeneCards Summary for APOL1 Gene

APOL1 (Apolipoprotein L1) is a Protein Coding gene. Diseases associated with APOL1 include Glomerulosclerosis, Focal Segmental, 4 and Sleeping Sickness. Among its related pathways are Vesicle-mediated transport and Binding and Uptake of Ligands by Scavenger Receptors. GO annotations related to this gene include lipid binding and chloride channel activity. An important paralog of this gene is APOL2.

UniProtKB/Swiss-Prot for APOL1 Gene

  • May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver.

Gene Wiki entry for APOL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOL1 Gene

Genomics for APOL1 Gene

Regulatory Elements for APOL1 Gene

Enhancers for APOL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F037165 1.4 Ensembl ENCODE 5.5 +914.6 914585 3.5 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ENSG00000235237 APOL1 IL2RB
GH22F036257 1.1 Ensembl ENCODE 5.5 +6.3 6251 3.0 HDGF PKNOX1 ETV1 BMI1 ZBTB40 ZNF316 ZNF366 SCRT2 MAFK CHD2 EIF3D APOL1 APOL4 MIR6819
GH22F036449 1.5 FANTOM5 ENCODE 1.6 +199.8 199842 7.4 HDGF PKNOX1 MLX ARID4B FEZF1 ZNF2 YY1 ZNF143 ZNF207 KLF13 CSF2RB APOL3 APOL2 NCF4 FOXRED2 ENSG00000228719 TXN2 APOL1 ENSG00000252225
GH22F036249 1.5 FANTOM5 Ensembl ENCODE 0.8 -2.2 -2150 2.7 PKNOX1 MLX ARID4B ZNF48 ZNF143 SP5 MIER2 TBX21 PPARG KAT8 APOL3 MYH9 APOL1 APOL2
GH22F036205 0.6 FANTOM5 Ensembl 1.5 -46.8 -46810 0.8 APOL4 APOL3 APOL2 APOL1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around APOL1 on UCSC Golden Path with GeneCards custom track

Promoters for APOL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001843349 290 1001 HDGF ELF3 DRAP1 TBP HDAC1 IRF2 MXI1 SAP130 ARID4B ZBTB40
ENSR00000170093 1090 201 ZFHX2 GLIS1 KDM1A EGR2

Genomic Location for APOL1 Gene

Chromosome:
22
Start:
36,253,010 bp from pter
End:
36,267,531 bp from pter
Size:
14,522 bases
Orientation:
Plus strand

Genomic View for APOL1 Gene

Genes around APOL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOL1 Gene

Proteins for APOL1 Gene

  • Protein details for APOL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14791-APOL1_HUMAN
    Recommended name:
    Apolipoprotein L1
    Protein Accession:
    O14791
    Secondary Accessions:
    • A5PLQ4
    • B4DU12
    • E9PF24
    • O60804
    • Q5R3P7
    • Q5R3P8
    • Q96AB8
    • Q96PM4
    • Q9BQ03

    Protein attributes for APOL1 Gene

    Size:
    398 amino acids
    Molecular mass:
    43974 Da
    Quaternary structure:
    • In plasma, interacts with APOA1 and mainly associated with large high density lipoprotein particles.
    SequenceCaution:
    • Sequence=AAB81218.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for APOL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APOL1 Gene

Post-translational modifications for APOL1 Gene

  • Phosphorylated by FAM20C in the extracellular medium.
  • Glycosylation at Thr 236 and Asn 261
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for APOL1
  • Santa Cruz Biotechnology (SCBT) Antibodies for APOL1

No data available for DME Specific Peptides for APOL1 Gene

Domains & Families for APOL1 Gene

Gene Families for APOL1 Gene

Protein Domains for APOL1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O14791

UniProtKB/Swiss-Prot:

APOL1_HUMAN :
  • Belongs to the apolipoprotein L family.
Family:
  • Belongs to the apolipoprotein L family.
genes like me logo Genes that share domains with APOL1: view

Function for APOL1 Gene

Molecular function for APOL1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver.

Gene Ontology (GO) - Molecular Function for APOL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity IDA 16020735
GO:0005515 protein binding IPI 12621437
GO:0008289 lipid binding IEA,IDA 16020735
genes like me logo Genes that share ontologies with APOL1: view
genes like me logo Genes that share phenotypes with APOL1: view

Human Phenotype Ontology for APOL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for APOL1 Gene

Localization for APOL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOL1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOL1 gene
Compartment Confidence
extracellular 5
cytosol 3
plasma membrane 2
lysosome 2
endosome 2
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for APOL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IDA 17192540
GO:0031224 intrinsic component of membrane IC 16020735
GO:0034361 very-low-density lipoprotein particle IDA 17154273
GO:0034364 high-density lipoprotein particle IEA,IDA 9325276
genes like me logo Genes that share ontologies with APOL1: view

Pathways & Interactions for APOL1 Gene

genes like me logo Genes that share pathways with APOL1: view

Pathways by source for APOL1 Gene

Gene Ontology (GO) - Biological Process for APOL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0006898 receptor-mediated endocytosis TAS --
GO:0008202 steroid metabolic process IEA --
genes like me logo Genes that share ontologies with APOL1: view

No data available for SIGNOR curated interactions for APOL1 Gene

Drugs & Compounds for APOL1 Gene

(1) Drugs for APOL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for APOL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with APOL1: view

Transcripts for APOL1 Gene

Unigene Clusters for APOL1 Gene

Apolipoprotein L, 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for APOL1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d
SP1: - -
SP2: - - -
SP3: - -
SP4: -
SP5: -
SP6: - - - -
SP7: - - - - - -

Relevant External Links for APOL1 Gene

GeneLoc Exon Structure for
APOL1
ECgene alternative splicing isoforms for
APOL1

Expression for APOL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APOL1 Gene

mRNA differential expression in normal tissues according to GTEx for APOL1 Gene

This gene is overexpressed in Liver (x5.7).

Protein differential expression in normal tissues from HIPED for APOL1 Gene

This gene is overexpressed in Serum (30.7), Synovial fluid (13.8), and Plasma (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for APOL1 Gene



Protein tissue co-expression partners for APOL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of APOL1 Gene:

APOL1

SOURCE GeneReport for Unigene cluster for APOL1 Gene:

Hs.114309

mRNA Expression by UniProt/SwissProt for APOL1 Gene:

O14791-APOL1_HUMAN
Tissue specificity: Plasma. Found on APOA-I-containing high density lipoprotein (HDL3). Expressed in pancreas, lung, prostate, liver, placenta and spleen.
genes like me logo Genes that share expression patterns with APOL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for APOL1 Gene

Orthologs for APOL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for APOL1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 35
  • 37 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia APOL3 35
  • 36 (a)
ManyToMany
-- 35
  • 35 (a)
ManyToMany
-- 35
  • 35 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Apol9b 35
  • 36 (a)
ManyToMany
Apol10b 35
  • 35 (a)
ManyToMany
Apol9a 35
  • 35 (a)
ManyToMany
Apol11a 35
  • 32 (a)
ManyToMany
Apol10a 35
  • 27 (a)
ManyToMany
Apol11b 35
  • 27 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 25 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 22 (a)
ManyToMany
-- 35
  • 22 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 42 (a)
ManyToMany
-- 35
  • 29 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii APOL4 35
  • 11 (a)
OneToMany
Species where no ortholog for APOL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for APOL1 Gene

ENSEMBL:
Gene Tree for APOL1 (if available)
TreeFam:
Gene Tree for APOL1 (if available)

Paralogs for APOL1 Gene

Variants for APOL1 Gene

Sequence variations from dbSNP and Humsavar for APOL1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs60910145 Focal segmental glomerulosclerosis 4 (FSGS4) [MIM:612551], untested 36,265,988(+) AACAT(G/T)CTCAA reference, missense
rs73885319 Focal segmental glomerulosclerosis 4 (FSGS4) [MIM:612551], other 36,265,860(+) CTGTA(A/G)GCTTC reference, missense
VAR_036568 A breast cancer sample
rs71785313 other 36,266,000(+) AATAA(-/TTATAA)GATTC cds-indel
rs1065087 -- 36,267,118(+) TGGTC(C/T)CCTGC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for APOL1 Gene

Variant ID Type Subtype PubMed ID
nsv834185 CNV loss 17160897
nsv522931 CNV gain 19592680
nsv1129335 OTHER inversion 24896259
nsv1114320 CNV deletion 24896259
esv7844 OTHER inversion 19470904
esv3647682 CNV gain 21293372
esv2760715 CNV gain 21179565
dgv4564n100 CNV gain 25217958

Variation tolerance for APOL1 Gene

Residual Variation Intolerance Score: 86.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.95; 68.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APOL1 Gene

Human Gene Mutation Database (HGMD)
APOL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APOL1 Gene

Disorders for APOL1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for APOL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glomerulosclerosis, focal segmental, 4
  • end-stage renal disease, nondiabetic
sleeping sickness
  • african sleeping sickness
trypanosomiasis
sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
focal segmental glomerulosclerosis
  • opitz-kaveggia syndrome
- elite association - COSMIC cancer census association via MalaCards
Search APOL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

APOL1_HUMAN
  • Focal segmental glomerulosclerosis 4 (FSGS4) [MIM:612551]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269 PubMed:20635188, ECO:0000269 PubMed:20647424}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for APOL1

Genetic Association Database (GAD)
APOL1
Human Genome Epidemiology (HuGE) Navigator
APOL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APOL1
genes like me logo Genes that share disorders with APOL1: view

No data available for Genatlas for APOL1 Gene

Publications for APOL1 Gene

  1. The human apolipoprotein L gene cluster: identification, classification, and sites of distribution. (PMID: 11374903) Page N.M. … Lowry P.J. (Genomics 2001) 2 3 4 22 64
  2. Apolipoprotein L, a new human high density lipoprotein apolipoprotein expressed by the pancreas. Identification, cloning, characterization, and plasma distribution of apolipoprotein L. (PMID: 9325276) Duchateau P.N. … Kane J.P. (J. Biol. Chem. 1997) 2 3 4 22 64
  3. Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene. (PMID: 20635188) Tzur S. … Skorecki K. (Hum. Genet. 2010) 3 4 46 64
  4. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. (PMID: 20647424) Genovese G. … Pollak M.R. (Science 2010) 3 4 46 64
  5. Association of SNPs and haplotypes in APOL1, 2 and 4 with schizophrenia. (PMID: 18632255) Takahashi S. … Tsuang M.T. (Schizophr. Res. 2008) 3 22 46 64

Products for APOL1 Gene

Sources for APOL1 Gene

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