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Protein

Apolipoprotein L1

Gene

APOL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processCholesterol metabolism, Lipid metabolism, Lipid transport, Steroid metabolism, Sterol metabolism, Transport

Enzyme and pathway databases

ReactomeiR-HSA-2168880 Scavenging of heme from plasma
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation

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

EuPathDBiHostDB:ENSG00000100342.20
HGNCiHGNC:618 APOL1
MIMi603743 gene
neXtProtiNX_O14791

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs73885319Ensembl.1
Natural variantiVAR_061995384I → M in FSGS4. 3 PublicationsCorresponds to variant dbSNP:rs60910145Ensembl.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...) asparagine1 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
ProteomicsDBi48240
48241 [O14791-2]

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 Expressed in 207 organ(s), highest expression level in epithelium of bronchus
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

Protein-protein interaction databases

BioGridi114112, 2 interactors
CORUMiO14791
IntActiO14791, 3 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

InterProiView protein in InterPro
IPR008405 ApoL
PANTHERiPTHR14096 PTHR14096, 1 hit
PfamiView protein in Pfam
PF05461 ApoL, 1 hit

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

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AH96B1AH96_HUMAN
Apolipoprotein L1
APOL1
159Annotation score:
B1AH95B1AH95_HUMAN
Apolipoprotein L1
APOL1
141Annotation score:
F8WCH3F8WCH3_HUMAN
Apolipoprotein L1
APOL1
142Annotation score:
F8WB77F8WB77_HUMAN
Apolipoprotein L1
APOL1
123Annotation score:
B1AH94B1AH94_HUMAN
Apolipoprotein L1
APOL1
118Annotation score:

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 → K3 PublicationsCorresponds to variant dbSNP:rs2239785Ensembl.1
Natural variantiVAR_036568188I → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_011384228M → I4 PublicationsCorresponds to variant dbSNP:rs136175Ensembl.1
Natural variantiVAR_011385255R → K4 PublicationsCorresponds to variant dbSNP:rs136176Ensembl.1
Natural variantiVAR_046641337D → N. Corresponds to variant dbSNP:rs16996616Ensembl.1
Natural variantiVAR_063598342S → G in FSGS4. 3 PublicationsCorresponds to variant dbSNP:rs73885319Ensembl.1
Natural variantiVAR_061995384I → M in FSGS4. 3 PublicationsCorresponds to variant dbSNP:rs60910145Ensembl.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 No translation available.
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
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

Similar proteinsi

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 No translation available.
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
UniGeneiHs.114309

3D structure databases

ProteinModelPortaliO14791
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114112, 2 interactors
CORUMiO14791
IntActiO14791, 3 interactors
STRINGi9606.ENSP00000317674

PTM databases

iPTMnetiO14791
PhosphoSitePlusiO14791

Polymorphism and mutation databases

BioMutaiAPOL1

Proteomic databases

MaxQBiO14791
PaxDbiO14791
PeptideAtlasiO14791
PRIDEiO14791
ProteomicsDBi48240
48241 [O14791-2]

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
EuPathDBiHostDB:ENSG00000100342.20
GeneCardsiAPOL1
H-InvDBiHIX0016423
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

ReactomeiR-HSA-2168880 Scavenging of heme from plasma
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation

Miscellaneous databases

ChiTaRSiAPOL1 human
GeneWikiiAPOL1
GenomeRNAii8542
PROiPR:O14791
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100342 Expressed in 207 organ(s), highest expression level in epithelium of bronchus
CleanExiHS_APOL1
ExpressionAtlasiO14791 baseline and differential
GenevisibleiO14791 HS

Family and domain databases

InterProiView protein in InterPro
IPR008405 ApoL
PANTHERiPTHR14096 PTHR14096, 1 hit
PfamiView protein in Pfam
PF05461 ApoL, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: September 23, 2008
Last modified: October 10, 2018
This is version 165 of the entry and version 5 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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