Reactome | UniProt:O14791 APOL1

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UniProt:O14791 APOL1 Show undefined attributes

chain	signal peptide:1-27 chain:28-398
checksum	BD1A8F1D7C5A889F
comment	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. A component of trypanosome lytic factor of human serum; plays a crucial role in killing Trypanosoma brucei by forming pores in parasite lysosomal membranes and sensitizing T.brucei to oxidation-stimulated osmotic lysis (PubMed:12621437, PubMed:16020735, PubMed:19997494, PubMed:26645690, PubMed:7723792).SUBUNIT In plasma, interacts with APOA1 and mainly associated with large high density lipoprotein particles.SUBUNIT (Microbial infection) Interacts (via C-terminus) with serum resistance-associated protein from Trypanosoma brucei rhodesiense; the interaction results in inactivation of APOL1 pore-forming activity and T.brucei rhodesiense resistance to lysis by normal human serum.INTERACTION Internalized through the endocytic pathway into the lysosomes of Trypanosoma brucei.ALTERNATIVE PRODUCTS Plasma. Found on APOA-I-containing high density lipoprotein (HDL3). Expressed in pancreas, lung, prostate, liver, placenta and spleen.PTM Phosphorylated by FAM20C in the extracellular medium.DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry.MISCELLANEOUS Major isoform.SIMILARITY Belongs to the apolipoprotein L family.
crossReference	[DatabaseIdentifier:12425501] RefSeq:NP_001349856.1 [DatabaseIdentifier:12425498] RefSeq:NP_663318.1 [DatabaseIdentifier:12425500] RefSeq:NP_001130012.1 [DatabaseIdentifier:12425499] RefSeq:NP_001130013.1 [DatabaseIdentifier:12425497] RefSeq:NP_003652.2 [DatabaseIdentifier:12289345] Pharos - Targets:O14791 [DatabaseIdentifier:12251019] PRO:O14791 [DatabaseIdentifier:12208561] PDB:7L6K [DatabaseIdentifier:12208564] PDB:7LFB [DatabaseIdentifier:12208563] PDB:7LFA [DatabaseIdentifier:12208562] PDB:7LFD [DatabaseIdentifier:12208565] PDB:7LF7 [DatabaseIdentifier:12137324] Orphanet:APOL1 [DatabaseIdentifier:12129133] OpenTargets:ENSG00000100342 [DatabaseIdentifier:11844504] HPA:ENSG00000100342-APOL1 [DatabaseIdentifier:11807526] GlyGen:O14791 [DatabaseIdentifier:11791503] GeneCards:APOL1 [DatabaseIdentifier:11730613] ENSEMBL:ENST00000427990 [DatabaseIdentifier:11730614] ENSEMBL:ENST00000426053 [DatabaseIdentifier:11730611] ENSEMBL:ENST00000319136 [DatabaseIdentifier:11730612] ENSEMBL:ENST00000397278 [DatabaseIdentifier:11607914] ENSEMBL:ENSP00000391302 [DatabaseIdentifier:11607912] ENSEMBL:ENSP00000388477 [DatabaseIdentifier:11607915] ENSEMBL:ENSP00000317674 [DatabaseIdentifier:11607913] ENSEMBL:ENSP00000380448 [DatabaseIdentifier:11498588] ENSEMBL:ENSG00000100342
databaseName	UniProt
dbId	50138
description	recommendedName: Apolipoprotein L1 alternativeName: Apolipoprotein L shortName: Apo-L shortName: ApoL alternativeName: fullName evidence="17 19 20"Apolipoprotein L-I shortName evidence="17 19"ApoL-I
displayName	UniProt:O14791 APOL1
geneName	APOL1 APOL
identifier	O14791
isSequenceChanged	false
keyword	3D-structure Alternative splicing Cholesterol metabolism Direct protein sequencing Disease variant Glycoprotein HDL Lipid metabolism Lipid transport Phosphoprotein Proteomics identification Reference proteome Secreted Signal Steroid metabolism Sterol metabolism Transport
modified	[InstanceEdit:9983091] Weiser, Joel, 2026-02-20
moleculeType	Protein
name	APOL1
otherIdentifier	11733855_a_at 11735997_x_at 11735998_a_at 11737791_s_at 11741187_a_at 11742449_a_at 11745189_a_at 11751619_a_at 11753920_a_at 11763986_a_at 16929631 209546_PM_s_at 209546_s_at 35099_at 3944405 3944406 3944407 3944408 3944409 3944410 3944411 3944412 3944413 3944414 3944416 3944417 3944418 3944419 3944420 3944421 3944422 3959413 3959414 49459_at 8072735 8542 87497_f_at A_14_P118891 A_24_P87931 GE54152 GO:0002376 GO:0005254 GO:0005515 GO:0005576 GO:0005615 GO:0005788 GO:0006629 GO:0006869 GO:0008202 GO:0008203 GO:0008289 GO:0016020 GO:0034361 GO:0034364 GO:0042157 GO:0045087 GO:0051838 GO:0055085 GO:0072562 GO:0098542 GO:1902476 HMNXSV003032880 HMNXSV003035464 ILMN_1688631 ILMN_1761793 PH_hs_0027780 TC22000265.hg
physicalEntity	[EntityWithAccessionedSequence:R-HSA-2168877] APOL1 [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-8956898] p-APOL1 [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-8956707] APOL1 [endoplasmic reticulum lumen] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12701828] UCSC:O14791 APOL1 [ReferenceDNASequence:12113819] OMIM:603743 APOL1 [ReferenceDNASequence:12077979] NCBI Gene:8542 APOL1 [ReferenceDNASequence:11993886] Monarch:8542 APOL1 [ReferenceDNASequence:11902770] KEGG:hsa:8542 APOL1 [ReferenceDNASequence:11823174] HGNC:618 APOL1 [ReferenceDNASequence:11430507] dbSNP Gene:8542 APOL1 [ReferenceDNASequence:11419275] CTD Gene:8542 APOL1 [ReferenceDNASequence:11394439] COSMIC - genes:APOL1 APOL1 [ReferenceDNASequence:11364097] BioGPS Gene:8542 APOL1 [ReferenceDNASequence:ensembl:ENSG00000100342] ENSEMBL:ENSG00000100342 APOL1
referenceTranscript	[ReferenceRNASequence:12607068] RefSeq:NM_001136540.2 APOL1 [ReferenceRNASequence:12607064] RefSeq:NM_003661.3 APOL1 [ReferenceRNASequence:12607066] RefSeq:NM_001362927.2 APOL1 [ReferenceRNASequence:12607067] RefSeq:NM_001136541.2 APOL1 [ReferenceRNASequence:12607065] RefSeq:NM_145343.3 APOL1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	APOL1_HUMAN A5PLQ4 B4DU12 E9PF24 O60804 Q5R3P7 Q5R3P8 Q96AB8 Q96PM4 Q9BQ03
sequenceLength	398
species	[Species:48887] Homo sapiens
stId	uniprot:O14791
url	http://purl.uniprot.org/uniprot/O14791

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-2168877] APOL1 [extracellular region] [EntityWithAccessionedSequence:R-HSA-8956898] p-APOL1 [endoplasmic reticulum lumen] [EntityWithAccessionedSequence:R-HSA-8956707] APOL1 [endoplasmic reticulum lumen]
(referenceSequence)	[ModifiedResidue:8956954] phosphorylated residue at unknown position