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APOL1 (apolipoprotein L1)

Identity

Alias_namesAPOL
apolipoprotein L
Other aliasAPO-L
APOL-I
FSGS4
HGNC (Hugo) APOL1
LocusID (NCBI) 8542
Atlas_Id 52740
Location 22q12.3  [Link to chromosome band 22q12]
Location_base_pair Starts at 36253071 and ends at 36267531 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
APOL1 (22q12.3) / ACTB (7p22.1)APOL1 (22q12.3) / IFFO2 (1p36.13)APOL1 (22q12.3) / LYPD3 (19q13.31)
BRWD1 (21q22.2) / APOL1 (22q12.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)APOL1   618
LRG (Locus Reference Genomic)LRG_169
Cards
Entrez_Gene (NCBI)APOL1  8542  apolipoprotein L1
AliasesAPO-L; APOL; APOL-I; FSGS4
GeneCards (Weizmann)APOL1
Ensembl hg19 (Hinxton)ENSG00000100342 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100342 [Gene_View]  chr22:36253071-36267531 [Contig_View]  APOL1 [Vega]
ICGC DataPortalENSG00000100342
TCGA cBioPortalAPOL1
AceView (NCBI)APOL1
Genatlas (Paris)APOL1
WikiGenes8542
SOURCE (Princeton)APOL1
Genetics Home Reference (NIH)APOL1
Genomic and cartography
GoldenPath hg38 (UCSC)APOL1  -     chr22:36253071-36267531 +  22q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)APOL1  -     22q12.3   [Description]    (hg19-Feb_2009)
EnsemblAPOL1 - 22q12.3 [CytoView hg19]  APOL1 - 22q12.3 [CytoView hg38]
Mapping of homologs : NCBIAPOL1 [Mapview hg19]  APOL1 [Mapview hg38]
OMIM603743   612551   
Gene and transcription
Genbank (Entrez)AF019225 AF305224 AF305428 AF323540 AK296099
RefSeq transcript (Entrez)NM_001136540 NM_001136541 NM_003661 NM_145343 NM_145344
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)APOL1
Cluster EST : UnigeneHs.114309 [ NCBI ]
CGAP (NCI)Hs.114309
Alternative Splicing GalleryENSG00000100342
Gene ExpressionAPOL1 [ NCBI-GEO ]   APOL1 [ EBI - ARRAY_EXPRESS ]   APOL1 [ SEEK ]   APOL1 [ MEM ]
Gene Expression Viewer (FireBrowse)APOL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8542
GTEX Portal (Tissue expression)APOL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14791   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14791  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14791
Splice isoforms : SwissVarO14791
PhosPhoSitePlusO14791
Domains : Interpro (EBI)ApoL   
Domain families : Pfam (Sanger)ApoL (PF05461)   
Domain families : Pfam (NCBI)pfam05461   
Conserved Domain (NCBI)APOL1
DMDM Disease mutations8542
Blocks (Seattle)APOL1
SuperfamilyO14791
Human Protein AtlasENSG00000100342
Peptide AtlasO14791
HPRD04774
IPIIPI00514475   IPI00186903   IPI01014201   IPI00914948   IPI00878099   IPI00877915   IPI00877765   IPI00877654   IPI00878633   
Protein Interaction databases
DIP (DOE-UCLA)O14791
IntAct (EBI)O14791
FunCoupENSG00000100342
BioGRIDAPOL1
STRING (EMBL)APOL1
ZODIACAPOL1
Ontologies - Pathways
QuickGOO14791
Ontology : AmiGOchloride channel activity  protein binding  extracellular region  extracellular space  lipid transport  receptor-mediated endocytosis  cholesterol metabolic process  lipid binding  cytolysis  intrinsic component of membrane  killing of cells of other organism  very-low-density lipoprotein particle  high-density lipoprotein particle  lipoprotein metabolic process  innate immune response  blood microparticle  chloride transmembrane transport  
Ontology : EGO-EBIchloride channel activity  protein binding  extracellular region  extracellular space  lipid transport  receptor-mediated endocytosis  cholesterol metabolic process  lipid binding  cytolysis  intrinsic component of membrane  killing of cells of other organism  very-low-density lipoprotein particle  high-density lipoprotein particle  lipoprotein metabolic process  innate immune response  blood microparticle  chloride transmembrane transport  
Pathways : KEGGAfrican trypanosomiasis   
NDEx NetworkAPOL1
Atlas of Cancer Signalling NetworkAPOL1
Wikipedia pathwaysAPOL1
Orthology - Evolution
OrthoDB8542
GeneTree (enSembl)ENSG00000100342
Phylogenetic Trees/Animal Genes : TreeFamAPOL1
HOVERGENO14791
HOGENOMO14791
Homologs : HomoloGeneAPOL1
Homology/Alignments : Family Browser (UCSC)APOL1
Gene fusions - Rearrangements
Fusion : MitelmanAPOL1/ACTB [22q12.3/7p22.1]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPOL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APOL1
dbVarAPOL1
ClinVarAPOL1
1000_GenomesAPOL1 
Exome Variant ServerAPOL1
ExAC (Exome Aggregation Consortium)APOL1 (select the gene name)
Genetic variants : HAPMAP8542
Genomic Variants (DGV)APOL1 [DGVbeta]
DECIPHERAPOL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAPOL1 
Mutations
ICGC Data PortalAPOL1 
TCGA Data PortalAPOL1 
Broad Tumor PortalAPOL1
OASIS PortalAPOL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPOL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAPOL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch APOL1
DgiDB (Drug Gene Interaction Database)APOL1
DoCM (Curated mutations)APOL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APOL1 (select a term)
intoGenAPOL1
Cancer3DAPOL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603743    612551   
Orphanet12195   
MedgenAPOL1
Genetic Testing Registry APOL1
NextProtO14791 [Medical]
TSGene8542
GENETestsAPOL1
Target ValidationAPOL1
Huge Navigator APOL1 [HugePedia]
snp3D : Map Gene to Disease8542
BioCentury BCIQAPOL1
ClinGenAPOL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8542
Chemical/Pharm GKB GenePA24904
Clinical trialAPOL1
Miscellaneous
canSAR (ICR)APOL1 (select the gene name)
Probes
Litterature
PubMed126 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPOL1
EVEXAPOL1
GoPubMedAPOL1
iHOPAPOL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:24:05 CEST 2017

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