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Protein

Apolipoprotein L1

Gene

APOL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  • chloride channel activity Source: BHF-UCL
  • lipid binding Source: BHF-UCL

GO - Biological processi

  • chloride transmembrane transport Source: BHF-UCL
  • cholesterol metabolic process Source: UniProtKB-KW
  • cytolysis Source: BHF-UCL
  • innate immune response Source: BHF-UCL
  • killing of cells of other organism Source: BHF-UCL
  • lipid transport Source: UniProtKB-KW
  • lipoprotein metabolic process Source: InterPro
  • receptor-mediated endocytosis Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Cholesterol metabolism, Lipid metabolism, Lipid transport, Steroid metabolism, Sterol metabolism, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100342-MONOMER.
ReactomeiR-HSA-2168880. Scavenging of heme from plasma.

Names & Taxonomyi

Protein namesi
Recommended name:
Apolipoprotein L1
Alternative name(s):
Apolipoprotein L
Short name:
Apo-L
Short name:
ApoL
Apolipoprotein L-I
Short name:
ApoL-I
Gene namesi
Name:APOL1
Synonyms:APOL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:618. APOL1.

Subcellular locationi

GO - Cellular componenti

  • blood microparticle Source: UniProtKB
  • extracellular region Source: Reactome
  • extracellular space Source: BHF-UCL
  • high-density lipoprotein particle Source: BHF-UCL
  • intrinsic component of membrane Source: BHF-UCL
  • very-low-density lipoprotein particle Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

HDL, Secreted

Pathology & Biotechi

Involvement in diseasei

Focal segmental glomerulosclerosis 4 (FSGS4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612551
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063598342S → G in FSGS4. 3 PublicationsCorresponds to variant rs73885319dbSNPEnsembl.1
Natural variantiVAR_061995384I → M in FSGS4. 3 PublicationsCorresponds to variant rs60910145dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi8542.
MalaCardsiAPOL1.
MIMi612551. phenotype.
OpenTargetsiENSG00000100342.
Orphaneti93218. Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBiPA24904.

Polymorphism and mutation databases

BioMutaiAPOL1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 271 PublicationAdd BLAST27
ChainiPRO_000000204028 – 398Apolipoprotein L1Add BLAST371

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi261N-linked (GlcNAc...)1 Publication1
Modified residuei311Phosphoserine; by FAM20CCombined sources1 Publication1
Modified residuei314Phosphoserine; by FAM20CCombined sources1 Publication1

Post-translational modificationi

Phosphorylated by FAM20C in the extracellular medium.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiO14791.
PaxDbiO14791.
PeptideAtlasiO14791.
PRIDEiO14791.

PTM databases

iPTMnetiO14791.
PhosphoSitePlusiO14791.

Expressioni

Tissue specificityi

Plasma. Found on APOA-I-containing high density lipoprotein (HDL3). Expressed in pancreas, lung, prostate, liver, placenta and spleen.

Gene expression databases

BgeeiENSG00000100342.
CleanExiHS_APOL1.
ExpressionAtlasiO14791. baseline and differential.
GenevisibleiO14791. HS.

Organism-specific databases

HPAiCAB056156.
HPA018885.

Interactioni

Subunit structurei

In plasma, interacts with APOA1 and mainly associated with large high density lipoprotein particles.

Binary interactionsi

WithEntry#Exp.IntActNotes
CDC23Q9UJX23EBI-1221934,EBI-396137

Protein-protein interaction databases

BioGridi114112. 2 interactors.
IntActiO14791. 2 interactors.
STRINGi9606.ENSP00000317674.

Structurei

3D structure databases

ProteinModelPortaliO14791.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the apolipoprotein L family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410KC8P. Eukaryota.
ENOG4110P7Y. LUCA.
GeneTreeiENSGT00510000046700.
HOGENOMiHOG000294132.
HOVERGENiHBG074468.
InParanoidiO14791.
KOiK14480.
OMAiVQKVHKG.
OrthoDBiEOG091G0BJK.
PhylomeDBiO14791.
TreeFamiTF334681.

Family and domain databases

InterProiIPR008405. ApoL.
[Graphical view]
PANTHERiPTHR14096. PTHR14096. 1 hit.
PfamiPF05461. ApoL. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O14791-1) [UniParc]FASTAAdd to basket
Also known as: A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEGAALLRVS VLCIWMSALF LGVGVRAEEA GARVQQNVPS GTDTGDPQSK
60 70 80 90 100
PLGDWAAGTM DPESSIFIED AIKYFKEKVS TQNLLLLLTD NEAWNGFVAA
110 120 130 140 150
AELPRNEADE LRKALDNLAR QMIMKDKNWH DKGQQYRNWF LKEFPRLKSE
160 170 180 190 200
LEDNIRRLRA LADGVQKVHK GTTIANVVSG SLSISSGILT LVGMGLAPFT
210 220 230 240 250
EGGSLVLLEP GMELGITAAL TGITSSTMDY GKKWWTQAQA HDLVIKSLDK
260 270 280 290 300
LKEVREFLGE NISNFLSLAG NTYQLTRGIG KDIRALRRAR ANLQSVPHAS
310 320 330 340 350
ASRPRVTEPI SAESGEQVER VNEPSILEMS RGVKLTDVAP VSFFLVLDVV
360 370 380 390
YLVYESKHLH EGAKSETAEE LKKVAQELEE KLNILNNNYK ILQADQEL
Note: Major isoform.
Length:398
Mass (Da):43,974
Last modified:September 23, 2008 - v5
Checksum:iBD1A8F1D7C5A889F
GO
Isoform 2 (identifier: O14791-2) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRFKSHTVELRRPCSDM

Show »
Length:414
Mass (Da):45,918
Checksum:iFFB6B4E66BA3F953
GO
Isoform 3 (identifier: O14791-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     16-33: Missing.

Note: No experimental confirmation available.
Show »
Length:380
Mass (Da):42,158
Checksum:iC87A9934630D7744
GO

Sequence cautioni

The sequence AAB81218 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti24G → R in AAG53690 (PubMed:9325276).Curated1
Sequence conflicti24G → R in AAK11591 (PubMed:11290834).Curated1
Sequence conflicti256E → G in AAK20210 (PubMed:11374903).Curated1
Sequence conflicti346V → A in AAK20210 (PubMed:11374903).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011383150E → K.3 PublicationsCorresponds to variant rs2239785dbSNPEnsembl.1
Natural variantiVAR_036568188I → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_011384228M → I.4 PublicationsCorresponds to variant rs136175dbSNPEnsembl.1
Natural variantiVAR_011385255R → K.4 PublicationsCorresponds to variant rs136176dbSNPEnsembl.1
Natural variantiVAR_046641337D → N.Corresponds to variant rs16996616dbSNPEnsembl.1
Natural variantiVAR_063598342S → G in FSGS4. 3 PublicationsCorresponds to variant rs73885319dbSNPEnsembl.1
Natural variantiVAR_061995384I → M in FSGS4. 3 PublicationsCorresponds to variant rs60910145dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0002921M → MRFKSHTVELRRPCSDM in isoform 2. 1 Publication1
Alternative sequenceiVSP_04507716 – 33Missing in isoform 3. 1 PublicationAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF019225 mRNA. Translation: AAB81218.2. Different initiation.
AF323540 mRNA. Translation: AAG53690.1.
AF323548
, AF323543, AF323544, AF323545, AF323546, AF323547 Genomic DNA. Translation: AAK11591.1.
AF305224 mRNA. Translation: AAK20210.1.
AF305428 mRNA. Translation: AAL09358.1.
AK300454 mRNA. Translation: BAG62174.1.
Z82215 Genomic DNA. Translation: CAI22438.1.
Z82215 Genomic DNA. Translation: CAQ09089.1.
BC143039 mRNA. Translation: AAI43040.1.
CCDSiCCDS13925.1. [O14791-2]
CCDS13926.1. [O14791-1]
CCDS46702.1. [O14791-3]
RefSeqiNP_001130012.1. NM_001136540.1. [O14791-1]
NP_001130013.1. NM_001136541.1. [O14791-3]
NP_003652.2. NM_003661.3. [O14791-1]
XP_005261853.1. XM_005261796.3. [O14791-3]
UniGeneiHs.114309.

Genome annotation databases

EnsembliENST00000319136; ENSP00000317674; ENSG00000100342. [O14791-2]
ENST00000397278; ENSP00000380448; ENSG00000100342. [O14791-1]
ENST00000397279; ENSP00000380449; ENSG00000100342. [O14791-1]
ENST00000422706; ENSP00000411507; ENSG00000100342. [O14791-1]
ENST00000426053; ENSP00000388477; ENSG00000100342. [O14791-3]
GeneIDi8542.
KEGGihsa:8542.
UCSCiuc003ape.4. human. [O14791-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF019225 mRNA. Translation: AAB81218.2. Different initiation.
AF323540 mRNA. Translation: AAG53690.1.
AF323548
, AF323543, AF323544, AF323545, AF323546, AF323547 Genomic DNA. Translation: AAK11591.1.
AF305224 mRNA. Translation: AAK20210.1.
AF305428 mRNA. Translation: AAL09358.1.
AK300454 mRNA. Translation: BAG62174.1.
Z82215 Genomic DNA. Translation: CAI22438.1.
Z82215 Genomic DNA. Translation: CAQ09089.1.
BC143039 mRNA. Translation: AAI43040.1.
CCDSiCCDS13925.1. [O14791-2]
CCDS13926.1. [O14791-1]
CCDS46702.1. [O14791-3]
RefSeqiNP_001130012.1. NM_001136540.1. [O14791-1]
NP_001130013.1. NM_001136541.1. [O14791-3]
NP_003652.2. NM_003661.3. [O14791-1]
XP_005261853.1. XM_005261796.3. [O14791-3]
UniGeneiHs.114309.

3D structure databases

ProteinModelPortaliO14791.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114112. 2 interactors.
IntActiO14791. 2 interactors.
STRINGi9606.ENSP00000317674.

PTM databases

iPTMnetiO14791.
PhosphoSitePlusiO14791.

Polymorphism and mutation databases

BioMutaiAPOL1.

Proteomic databases

MaxQBiO14791.
PaxDbiO14791.
PeptideAtlasiO14791.
PRIDEiO14791.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319136; ENSP00000317674; ENSG00000100342. [O14791-2]
ENST00000397278; ENSP00000380448; ENSG00000100342. [O14791-1]
ENST00000397279; ENSP00000380449; ENSG00000100342. [O14791-1]
ENST00000422706; ENSP00000411507; ENSG00000100342. [O14791-1]
ENST00000426053; ENSP00000388477; ENSG00000100342. [O14791-3]
GeneIDi8542.
KEGGihsa:8542.
UCSCiuc003ape.4. human. [O14791-1]

Organism-specific databases

CTDi8542.
DisGeNETi8542.
GeneCardsiAPOL1.
H-InvDBHIX0016423.
HGNCiHGNC:618. APOL1.
HPAiCAB056156.
HPA018885.
MalaCardsiAPOL1.
MIMi603743. gene.
612551. phenotype.
neXtProtiNX_O14791.
OpenTargetsiENSG00000100342.
Orphaneti93218. Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBiPA24904.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KC8P. Eukaryota.
ENOG4110P7Y. LUCA.
GeneTreeiENSGT00510000046700.
HOGENOMiHOG000294132.
HOVERGENiHBG074468.
InParanoidiO14791.
KOiK14480.
OMAiVQKVHKG.
OrthoDBiEOG091G0BJK.
PhylomeDBiO14791.
TreeFamiTF334681.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100342-MONOMER.
ReactomeiR-HSA-2168880. Scavenging of heme from plasma.

Miscellaneous databases

ChiTaRSiAPOL1. human.
GeneWikiiAPOL1.
GenomeRNAii8542.
PROiO14791.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100342.
CleanExiHS_APOL1.
ExpressionAtlasiO14791. baseline and differential.
GenevisibleiO14791. HS.

Family and domain databases

InterProiIPR008405. ApoL.
[Graphical view]
PANTHERiPTHR14096. PTHR14096. 1 hit.
PfamiPF05461. ApoL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAPOL1_HUMAN
AccessioniPrimary (citable) accession number: O14791
Secondary accession number(s): A5PLQ4
, B4DU12, E9PF24, O60804, Q5R3P7, Q5R3P8, Q96AB8, Q96PM4, Q9BQ03
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: September 23, 2008
Last modified: November 2, 2016
This is version 153 of the entry and version 5 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.