O14791 (APOL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 120.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Apolipoprotein L1 Alternative name(s): Apolipoprotein L Short name=Apo-L Short name=ApoL Apolipoprotein L-I Short name=ApoL-I | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 398 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. |
| Subunit structure | In plasma, interacts with APOA1 and mainly associated with large high density lipoprotein particles. |
| Subcellular location | |
| Tissue specificity | Plasma. Found on APOA-I-containing high density lipoprotein (HDL3). Expressed in pancreas, lung, prostate, liver, placenta and spleen. |
| Post-translational modification | Phosphorylation sites are present in the extracellular medium. |
| Involvement in disease | Focal segmental glomerulosclerosis 4 (FSGS4) [MIM:612551]: A 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. |
| Sequence similarities | Belongs to the apolipoprotein L family. |
| Sequence caution | The sequence AAB81218.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O14791-1) 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. | ||||||
| Note: Major isoform. | ||||||
| Isoform 2 (identifier: O14791-2) Also known as: B; The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MRFKSHTVELRRPCSDM | ||||||
| Isoform 3 (identifier: O14791-3) The sequence of this isoform differs from the canonical sequence as follows: 16-33: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 27 | 27 | Ref.1 | ||||||
| Chain | 28 – 398 | 371 | Apolipoprotein L1 | PRO_0000002040 | |||||
Amino acid modifications | |||||||||
| Glycosylation | 261 | 1 | N-linked (GlcNAc...) Ref.8 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 | 1 | M → MRFKSHTVELRRPCSDM in isoform 2. | VSP_000292 | |||||
| Alternative sequence | 16 – 33 | 18 | Missing in isoform 3. | VSP_045077 | |||||
| Natural variant | 150 | 1 | E → K. Ref.1 Ref.2 Ref.5 Corresponds to variant rs2239785 [ dbSNP | Ensembl ]. | VAR_011383 | |||||
| Natural variant | 188 | 1 | I → T in a breast cancer sample; somatic mutation. Ref.9 | VAR_036568 | |||||
| Natural variant | 228 | 1 | M → I. Ref.1 Ref.2 Ref.4 Ref.5 Corresponds to variant rs136175 [ dbSNP | Ensembl ]. | VAR_011384 | |||||
| Natural variant | 255 | 1 | R → K. Ref.1 Ref.2 Ref.4 Ref.5 Corresponds to variant rs136176 [ dbSNP | Ensembl ]. | VAR_011385 | |||||
| Natural variant | 337 | 1 | D → N. Corresponds to variant rs16996616 [ dbSNP | Ensembl ]. | VAR_046641 | |||||
| Natural variant | 342 | 1 | S → G in FSGS4. Ref.4 Ref.10 Ref.11 Corresponds to variant rs73885319 [ dbSNP | Ensembl ]. | VAR_063598 | |||||
| Natural variant | 384 | 1 | I → M in FSGS4. Ref.4 Ref.10 Ref.11 Corresponds to variant rs60910145 [ dbSNP | Ensembl ]. | VAR_061995 | |||||
Experimental info | |||||||||
| Sequence conflict | 24 | 1 | G → R in AAG53690. Ref.1 | ||||||
| Sequence conflict | 24 | 1 | G → R in AAK11591. Ref.2 | ||||||
| Sequence conflict | 256 | 1 | E → G in AAK20210. Ref.3 | ||||||
| Sequence conflict | 346 | 1 | V → A in AAK20210. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Apolipoprotein L, a new human high density lipoprotein apolipoprotein expressed by the pancreas. Identification, cloning, characterization, and plasma distribution of apolipoprotein L." Duchateau P.N., Pullinger C.R., Orellana R.E., Kunitake S.T., Naya-Vigne J., O'Connor P.M., Malloy M.J., Kane J.P. J. Biol. Chem. 272:25576-25582(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 28-63, VARIANTS LYS-150; ILE-228 AND LYS-255. Tissue: Pancreas. |
| [2] | "Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene." Duchateau P.N., Pullinger C.R., Cho M.H., Eng C., Kane J.P. J. Lipid Res. 42:620-630(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), SEQUENCE REVISION TO 155 AND 346, VARIANTS LYS-150; ILE-228 AND LYS-255. Tissue: Pancreas. |
| [3] | "The human apolipoprotein L gene cluster: identification, classification, and sites of distribution." Page N.M., Butlin D.J., Lomthaisong K., Lowry P.J. Genomics 74:71-78(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Placenta. |
| [4] | "The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue." Monajemi H., Fontijn R.D., Pannekoek H., Horrevoets A.J.G. Genomics 79:539-546(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ILE-228; LYS-255; GLY-342 AND MET-384. |
| [5] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANTS LYS-150; ILE-228 AND LYS-255. Tissue: Placenta. |
| [6] | "The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. Wright H.Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [8] | "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-261, MASS SPECTROMETRY. Tissue: Plasma. |
| [9] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-188. |
| [10] | "Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene." Tzur S., Rosset S., Shemer R., Yudkovsky G., Selig S., Tarekegn A., Bekele E., Bradman N., Wasser W.G., Behar D.M., Skorecki K. Hum. Genet. 128:345-350(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FSGS4 GLY-342 AND MET-384. |
| [11] | "Association of trypanolytic ApoL1 variants with kidney disease in African Americans." Genovese G., Friedman D.J., Ross M.D., Lecordier L., Uzureau P., Freedman B.I., Bowden D.W., Langefeld C.D., Oleksyk T.K., Uscinski Knob A.L., Bernhardy A.J., Hicks P.J., Nelson G.W., Vanhollebeke B., Winkler C.A., Kopp J.B., Pays E., Pollak M.R. Science 329:841-845(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FSGS4 GLY-342 AND MET-384. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. Translation: CAI22438.1. Z82215 Genomic DNA. Translation: CAQ09089.1. BC143039 mRNA. Translation: AAI43040.1. |
| IPI | IPI00186903. IPI00514475. IPI00914948. |
| RefSeq | NP_001130012.1. NM_001136540.1. NP_001130013.1. NM_001136541.1. NP_003652.2. NM_003661.3. NP_663318.1. NM_145343.2. |
| UniGene | Hs.114309. |
3D structure databases | |
| ProteinModelPortal | O14791. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O14791. 1 interaction. |
| STRING | 9606.ENSP00000317674. |
PTM databases | |
| PhosphoSite | O14791. |
Proteomic databases | |
| PaxDb | O14791. |
| PRIDE | O14791. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000319136; ENSP00000317674; ENSG00000100342. ENST00000397278; ENSP00000380448; ENSG00000100342. ENST00000397279; ENSP00000380449; ENSG00000100342. ENST00000422706; ENSP00000411507; ENSG00000100342. ENST00000426053; ENSP00000388477; ENSG00000100342. |
| GeneID | 8542. |
| KEGG | hsa:8542. |
| UCSC | uc003ape.3. human. uc003apf.3. human. |
Organism-specific databases | |
| CTD | 8542. |
| GeneCards | GC22P036649. |
| H-InvDB | HIX0016423. |
| HGNC | HGNC:618. APOL1. |
| HPA | CAB056156. HPA018885. |
| MIM | 603743. gene. 612551. phenotype. |
| neXtProt | NX_O14791. |
| Orphanet | 93218. Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis. |
| PharmGKB | PA24904. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG125779. |
| HOVERGEN | HBG074468. |
| InParanoid | O14791. |
| KO | K14480. |
| OMA | KGTTIAN. |
| OrthoDB | EOG49ZXPX. |
Gene expression databases | |
| ArrayExpress | O14791. |
| Bgee | O14791. |
| CleanEx | HS_APOL1. |
| Genevestigator | O14791. |
| GermOnline | ENSG00000100342. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR008405. ApoL. [Graphical view] |
| PANTHER | PTHR14096. PTHR14096. 1 hit. |
| Pfam | PF05461. ApoL. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | APOL1. human. |
| GenomeRNAi | 8542. |
| NextBio | 31996. |
| SOURCE | Search... |
Entry information
| Entry name | APOL1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O14791 Secondary accession number(s): A5PLQ4 Q9BQ03 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 22 Human chromosome 22: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
