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Aliases for APOL1 Gene

Aliases for APOL1 Gene

  • Apolipoprotein L, 1 2 3
  • APOL-I 3 4
  • APO-L 3 4
  • FSGS4 3 6
  • APOL 3 4
  • Apolipoprotein L-I 4
  • Apolipoprotein L1 3
  • Apolipoprotein L 4

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 L, 1) is a Protein Coding gene. Diseases associated with APOL1 include glomerulosclerosis, focal segmental, 4 and sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis. Among its related pathways are Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF) 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 APOL5.

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

Genomic Location for APOL1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for APOL1 Gene at MOPED

Post-translational modifications for APOL1 Gene

  • Phosphorylation sites are present in the extracellular medium
  • Glycosylation at Thr236 and Asn261
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for APOL1 Gene

Domains for APOL1 Gene

Gene Families for APOL1 Gene

HGNC:

Protein Domains for APOL1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O14791

UniProtKB/Swiss-Prot:

APOL1_HUMAN :
  • O14791
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 IDA 16020735
genes like me logo Genes that share ontologies with APOL1: view

Phenotypes for APOL1 Gene

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

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

Localization for APOL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOL1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APOL1 Gene COMPARTMENTS Subcellular localization image for APOL1 gene
Compartment Confidence
extracellular 5
lysosome 2
plasma membrane 2
vacuole 2
cytosol 1
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for APOL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region 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 IDA 9325276
genes like me logo Genes that share ontologies with APOL1: view

Pathways for APOL1 Gene

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

Pathways by source for APOL1 Gene

Interacting Proteins for APOL1 Gene

Gene Ontology (GO) - Biological Process for APOL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006821 chloride transport IDA 16020735
GO:0006869 lipid transport IEA --
GO:0006898 receptor-mediated endocytosis TAS --
GO:0008203 cholesterol metabolic process IEA --
GO:0019835 cytolysis IDA 12621437
genes like me logo Genes that share ontologies with APOL1: view

Compounds for APOL1 Gene

(2) Novoseek inferred chemical compound relationships for APOL1 Gene

Compound -log(P) Hits PubMed IDs
lipid 25.3 4
cholesterol 2.03 2
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:

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 for APOL1 Gene

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

This gene is overexpressed in Liver (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for APOL1 Gene

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 expressions with APOL1: view

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
cow
(Bos Taurus)
Mammalia -- 36
  • 35 (a)
ManyToMany
-- 36
  • 35 (a)
ManyToMany
APOL3 36
  • 36 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 37 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Apol10a 36
  • 27 (a)
ManyToMany
Apol10b 36
  • 35 (a)
ManyToMany
Apol11a 36
  • 32 (a)
ManyToMany
Apol11b 36
  • 27 (a)
ManyToMany
Apol9a 36
  • 35 (a)
ManyToMany
Apol9b 36
  • 36 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 22 (a)
ManyToMany
-- 36
  • 22 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 25 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 29 (a)
ManyToMany
-- 36
  • 42 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii APOL4 36
  • 11 (a)
OneToMany
Species with no ortholog for APOL1:
  • 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

Paralogs for APOL1 Gene

Pseudogenes.org Pseudogenes for APOL1 Gene

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

Variants for APOL1 Gene

Sequence variations from dbSNP and Humsavar for APOL1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs11381 -- 36,267,254(-) GGGGA(C/T)ATGCA utr-variant-3-prime
rs78469 -- 36,263,142(+) GGAAG(G/T)TTGGG intron-variant
rs78523 -- 36,267,202(+) TGGTC(A/G)TTGGG utr-variant-3-prime
rs80424 -- 36,263,253(+) CCAGA(A/C)CCAGT intron-variant
rs129423 -- 36,261,283(+) cacag(C/T)cttct intron-variant

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

Variant ID Type Subtype PubMed ID
esv7844 OTHER Inversion 19470904
nsv522931 CNV Gain 19592680
nsv834185 CNV Loss 17160897

Relevant External Links for APOL1 Gene

HapMap Linkage Disequilibrium report
APOL1
Human Gene Mutation Database (HGMD)
APOL1

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

Disorders for APOL1 Gene

(1) OMIM Diseases for APOL1 Gene (603743)

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.

(2) University of Copenhagen DISEASES for APOL1 Gene

(2) Novoseek inferred disease relationships for APOL1 Gene

Disease -log(P) Hits PubMed IDs
trypanosomiasis african 84.9 2
schizophrenia 23.5 6

Relevant External Links for APOL1

Genetic Association Database (GAD)
APOL1
Human Genome Epidemiology (HuGE) Navigator
APOL1
genes like me logo Genes that share disorders with APOL1: view

Publications for APOL1 Gene

  1. 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 23
  2. 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 23
  3. Association of SNPs and haplotypes in APOL1, 2 and 4 with schizophrenia. (PMID: 18632255) Takahashi S. … Tsuang M.T. (Schizophr. Res. 2008) 3 23 48
  4. Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene. (PMID: 11290834) Duchateau P.N. … Kane J.P. (J. Lipid Res. 2001) 3 4 23
  5. Investigation of the apolipoprotein-L (APOL) gene family and schizophrenia using a novel DNA pooling strategy for public database SNPs. (PMID: 15949655) McGhee K.A. … Corvin A. (Schizophr. Res. 2005) 3 23 48

Products for APOL1 Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Lipoprotein Signaling & Cholesterol Metabolism in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate APOL1
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for APOL1
  • Block miRNA regulation of APOL1 using miScript Target Protectors

Sources for APOL1 Gene

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