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UniProtKB - O14791 (APOL1_HUMAN)

Entry version 184 (25 May 2022)
Sequence version 5 (23 Sep 2008)
Previous versions | rss
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Protein

Apolipoprotein L1

Gene

APOL1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O14791

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O14791

Protein family/group databases

Transport Classification Database

More...TCDBi		1.C.127.1.1, the pore-forming trypanolytic apolipoprotein a1 factor (apol1) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:APOL1
Synonyms:APOL
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:618, APOL1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603743, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O14791

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000100342

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

HDL, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Focal segmental glomerulosclerosis 4 (FSGS4)2 Publications
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063598342S → G in FSGS4. 3 PublicationsCorresponds to variant dbSNP:rs73885319EnsemblClinVar.1
Natural variantiVAR_061995384I → M in FSGS4. 3 PublicationsCorresponds to variant dbSNP:rs60910145EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		8542

MalaCards human disease database

More...MalaCardsi		APOL1
MIMi612551, phenotype

Open Targets

More...OpenTargetsi		ENSG00000100342

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		656, Genetic steroid-resistant nephrotic syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24904

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O14791, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB11886, Infigratinib
DB00877, Sirolimus
DB01593, Zinc
DB14487, Zinc acetate
DB14533, Zinc chloride
DB14548, Zinc sulfate, unspecified form

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		APOL1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 271 PublicationAdd BLAST27
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000204028 – 398Apolipoprotein L1Add BLAST371

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi261N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei311Phosphoserine; by FAM20CCombined sources1 Publication1
Modified residuei314Phosphoserine; by FAM20CCombined sources1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by FAM20C in the extracellular medium.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		non-CPTAC-2628

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O14791

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O14791

MaxQB - The MaxQuant DataBase

More...MaxQBi		O14791

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O14791

PeptideAtlas

More...PeptideAtlasi		O14791

PRoteomics IDEntifications database

More...PRIDEi		O14791

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		20010
48240 [O14791-1]
48241 [O14791-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O14791, 2 sites, 2 O-linked glycans (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O14791

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O14791

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000100342, Expressed in epithelium of bronchus and 222 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O14791, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O14791, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000100342, Tissue enhanced (liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114112, 3 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O14791

Protein interaction database and analysis system

More...IntActi		O14791, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000317674

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O14791, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1398
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		O14791

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O14791

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni35 – 55DisorderedSequence analysisAdd BLAST21
Regioni297 – 317DisorderedSequence analysisAdd BLAST21

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the apolipoprotein L family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502RZGU, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT01030000234599

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_046288_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O14791

Database for complete collections of gene phylogenies

More...PhylomeDBi		O14791

TreeFam database of animal gene trees

More...TreeFami		TF334681

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008405, ApoL

The PANTHER Classification System

More...PANTHERi		PTHR14096, PTHR14096, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05461, ApoL, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

Show »
Length:380
Mass (Da):42,158
Checksum:iC87A9934630D7744
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B1AH95B1AH95_HUMAN
Apolipoprotein L1
APOL1
141Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WCH3F8WCH3_HUMAN
Apolipoprotein L1
APOL1
142Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WB77F8WB77_HUMAN
Apolipoprotein L1
APOL1
123Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B1AH94B1AH94_HUMAN
Apolipoprotein L1
APOL1
118Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs16996616EnsemblClinVar.1
Natural variantiVAR_063598342S → G in FSGS4. 3 PublicationsCorresponds to variant dbSNP:rs73885319EnsemblClinVar.1
Natural variantiVAR_061995384I → M in FSGS4. 3 PublicationsCorresponds to variant dbSNP:rs60910145EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF019225 mRNA Translation: AAB81218.2 Different initiation.
AF323540 mRNA Translation: AAG53690.1
AF323548 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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13925.1 [O14791-2]
CCDS13926.1 [O14791-1]
CCDS46702.1 [O14791-3]

NCBI Reference Sequences

More...RefSeqi		NP_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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000319136.8; ENSP00000317674.4; ENSG00000100342.21 [O14791-2]
ENST00000397278.8; ENSP00000380448.4; ENSG00000100342.21
ENST00000397279.8; ENSP00000380449.4; ENSG00000100342.21
ENST00000422706.5; ENSP00000411507.1; ENSG00000100342.21
ENST00000426053.5; ENSP00000388477.1; ENSG00000100342.21 [O14791-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8542

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8542

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000397278.8; ENSP00000380448.4; NM_003661.4; NP_003652.2

UCSC genome browser

More...UCSCi		uc003ape.4, human [O14791-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
7L6KNMR-A61-172[»]
7LF7X-ray2.03K/M61-172[»]
7LFAX-ray1.86A/C61-172[»]
7LFBX-ray1.91X61-172[»]
7LFDX-ray2.16A152-168[»]
AlphaFoldDBiO14791
SMRiO14791
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi114112, 3 interactors
CORUMiO14791
IntActiO14791, 3 interactors
STRINGi9606.ENSP00000317674

Chemistry databases

DrugBankiDB11886, Infigratinib
DB00877, Sirolimus
DB01593, Zinc
DB14487, Zinc acetate
DB14533, Zinc chloride
DB14548, Zinc sulfate, unspecified form

Protein family/group databases

TCDBi1.C.127.1.1, the pore-forming trypanolytic apolipoprotein a1 factor (apol1) family

PTM databases

GlyGeniO14791, 2 sites, 2 O-linked glycans (1 site)
iPTMnetiO14791
PhosphoSitePlusiO14791

Genetic variation databases

BioMutaiAPOL1

Proteomic databases

CPTACinon-CPTAC-2628
jPOSTiO14791
MassIVEiO14791
MaxQBiO14791
PaxDbiO14791
PeptideAtlasiO14791
PRIDEiO14791
ProteomicsDBi20010
48240 [O14791-1]
48241 [O14791-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		875, 450 antibodies from 36 providers

The DNASU plasmid repository

More...DNASUi		8542

Genome annotation databases

EnsembliENST00000319136.8; ENSP00000317674.4; ENSG00000100342.21 [O14791-2]
ENST00000397278.8; ENSP00000380448.4; ENSG00000100342.21
ENST00000397279.8; ENSP00000380449.4; ENSG00000100342.21
ENST00000422706.5; ENSP00000411507.1; ENSG00000100342.21
ENST00000426053.5; ENSP00000388477.1; ENSG00000100342.21 [O14791-3]
GeneIDi8542
KEGGihsa:8542
MANE-SelectiENST00000397278.8; ENSP00000380448.4; NM_003661.4; NP_003652.2
UCSCiuc003ape.4, human [O14791-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8542
DisGeNETi8542

GeneCards: human genes, protein and diseases

More...GeneCardsi		APOL1
HGNCiHGNC:618, APOL1
HPAiENSG00000100342, Tissue enhanced (liver)
MalaCardsiAPOL1
MIMi603743, gene
612551, phenotype
neXtProtiNX_O14791
OpenTargetsiENSG00000100342
Orphaneti656, Genetic steroid-resistant nephrotic syndrome
PharmGKBiPA24904
VEuPathDBiHostDB:ENSG00000100342

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502RZGU, Eukaryota
GeneTreeiENSGT01030000234599
HOGENOMiCLU_046288_1_0_1
InParanoidiO14791
PhylomeDBiO14791
TreeFamiTF334681

Enzyme and pathway databases

PathwayCommonsiO14791
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
SignaLinkiO14791

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8542, 11 hits in 1077 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		APOL1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		APOL1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		8542
PharosiO14791, Tbio

Protein Ontology

More...PROi		PR:O14791
RNActiO14791, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000100342, Expressed in epithelium of bronchus and 222 other tissues
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAPOL1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O14791
Secondary accession number(s): A5PLQ4
, B4DU12, E9PF24, O60804, Q5R3P7, Q5R3P8, Q96AB8, Q96PM4, Q9BQ03
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: September 23, 2008
Last modified: May 25, 2022
This is version 184 of the entry and version 5 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, 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 genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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