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O14791 (APOL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 129. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Apolipoprotein L1
Alternative name(s):
Apolipoprotein L
Short name=Apo-L
Short name=ApoL
Apolipoprotein L-I
Short name=ApoL-I
Gene names
Name:APOL1
Synonyms:APOL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length398 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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

Secreted.

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11

Sequence similarities

Belongs to the apolipoprotein L family.

Sequence caution

The sequence AAB81218.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processCholesterol metabolism
Lipid metabolism
Lipid transport
Steroid metabolism
Sterol metabolism
Transport
   Cellular componentHDL
Secreted
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainSignal
   PTMGlycoprotein
Phosphoprotein
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processchloride transmembrane transport

Inferred from direct assay PubMed 16020735. Source: GOC

chloride transport

Inferred from direct assay PubMed 16020735. Source: BHF-UCL

cholesterol metabolic process

Inferred from electronic annotation. Source: UniProtKB-KW

cytolysis

Inferred from direct assay PubMed 12621437PubMed 17192540. Source: BHF-UCL

innate immune response

Inferred from direct assay PubMed 17192540. Source: BHF-UCL

killing of cells of other organism

Inferred from direct assay PubMed 12621437PubMed 17192540. Source: BHF-UCL

lipid transport

Inferred from electronic annotation. Source: UniProtKB-KW

lipoprotein metabolic process

Inferred from electronic annotation. Source: InterPro

   Cellular_componentblood microparticle

Inferred from direct assay PubMed 22516433. Source: UniProt

extracellular region

Traceable author statement. Source: Reactome

extracellular space

Inferred from direct assay PubMed 17192540. Source: BHF-UCL

high-density lipoprotein particle

Inferred from direct assay Ref.1. Source: BHF-UCL

intrinsic component of membrane

Inferred by curator PubMed 16020735. Source: BHF-UCL

very-low-density lipoprotein particle

Inferred from direct assay PubMed 17154273. Source: BHF-UCL

   Molecular_functionchloride channel activity

Inferred from direct assay PubMed 16020735. Source: BHF-UCL

lipid binding

Inferred from direct assay PubMed 16020735. Source: BHF-UCL

Complete GO annotation...

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2727 Ref.1
Chain28 – 398371Apolipoprotein L1
PRO_0000002040

Amino acid modifications

Glycosylation2611N-linked (GlcNAc...) Ref.8

Natural variations

Alternative sequence11M → MRFKSHTVELRRPCSDM in isoform 2.
VSP_000292
Alternative sequence16 – 3318Missing in isoform 3.
VSP_045077
Natural variant1501E → K. Ref.1 Ref.2 Ref.5
Corresponds to variant rs2239785 [ dbSNP | Ensembl ].
VAR_011383
Natural variant1881I → T in a breast cancer sample; somatic mutation. Ref.9
VAR_036568
Natural variant2281M → I. Ref.1 Ref.2 Ref.4 Ref.5
Corresponds to variant rs136175 [ dbSNP | Ensembl ].
VAR_011384
Natural variant2551R → K. Ref.1 Ref.2 Ref.4 Ref.5
Corresponds to variant rs136176 [ dbSNP | Ensembl ].
VAR_011385
Natural variant3371D → N.
Corresponds to variant rs16996616 [ dbSNP | Ensembl ].
VAR_046641
Natural variant3421S → G in FSGS4. Ref.4 Ref.10 Ref.11
Corresponds to variant rs73885319 [ dbSNP | Ensembl ].
VAR_063598
Natural variant3841I → M in FSGS4. Ref.4 Ref.10 Ref.11
Corresponds to variant rs60910145 [ dbSNP | Ensembl ].
VAR_061995

Experimental info

Sequence conflict241G → R in AAG53690. Ref.1
Sequence conflict241G → R in AAK11591. Ref.2
Sequence conflict2561E → G in AAK20210. Ref.3
Sequence conflict3461V → A in AAK20210. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (A) [UniParc].

Last modified September 23, 2008. Version 5.
Checksum: BD1A8F1D7C5A889F

FASTA39843,974
        10         20         30         40         50         60 
MEGAALLRVS VLCIWMSALF LGVGVRAEEA GARVQQNVPS GTDTGDPQSK PLGDWAAGTM 

        70         80         90        100        110        120 
DPESSIFIED AIKYFKEKVS TQNLLLLLTD NEAWNGFVAA AELPRNEADE LRKALDNLAR 

       130        140        150        160        170        180 
QMIMKDKNWH DKGQQYRNWF LKEFPRLKSE LEDNIRRLRA LADGVQKVHK GTTIANVVSG 

       190        200        210        220        230        240 
SLSISSGILT LVGMGLAPFT EGGSLVLLEP GMELGITAAL TGITSSTMDY GKKWWTQAQA 

       250        260        270        280        290        300 
HDLVIKSLDK LKEVREFLGE NISNFLSLAG NTYQLTRGIG KDIRALRRAR ANLQSVPHAS 

       310        320        330        340        350        360 
ASRPRVTEPI SAESGEQVER VNEPSILEMS RGVKLTDVAP VSFFLVLDVV YLVYESKHLH 

       370        380        390 
EGAKSETAEE LKKVAQELEE KLNILNNNYK ILQADQEL 

« Hide

Isoform 2 (B) [UniParc].

Checksum: FFB6B4E66BA3F953
Show »

FASTA41445,918
Isoform 3 [UniParc].

Checksum: C87A9934630D7744
Show »

FASTA38042,158

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., 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.
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. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., 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 expand/collapse EMBL AC list , 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.
RefSeqNP_001130012.1. NM_001136540.1.
NP_001130013.1. NM_001136541.1.
NP_003652.2. NM_003661.3.
XP_005261853.1. XM_005261796.1.
UniGeneHs.114309.

3D structure databases

ProteinModelPortalO14791.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114112. 1 interaction.
IntActO14791. 1 interaction.
STRING9606.ENSP00000317674.

PTM databases

PhosphoSiteO14791.

Proteomic databases

PaxDbO14791.
PRIDEO14791.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000319136; ENSP00000317674; ENSG00000100342. [O14791-2]
ENST00000397278; ENSP00000380448; ENSG00000100342. [O14791-1]
ENST00000397279; ENSP00000380449; ENSG00000100342. [O14791-1]
ENST00000422706; ENSP00000411507; ENSG00000100342. [O14791-1]
ENST00000426053; ENSP00000388477; ENSG00000100342. [O14791-3]
GeneID8542.
KEGGhsa:8542.
UCSCuc003ape.3. human. [O14791-2]
uc003apf.3. human. [O14791-1]

Organism-specific databases

CTD8542.
GeneCardsGC22P036649.
H-InvDBHIX0016423.
HGNCHGNC:618. APOL1.
HPACAB056156.
HPA018885.
MIM603743. gene.
612551. phenotype.
neXtProtNX_O14791.
Orphanet93218. Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBPA24904.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG125779.
HOVERGENHBG074468.
InParanoidO14791.
KOK14480.
OMAKGTTIAN.
OrthoDBEOG7GXPBT.
PhylomeDBO14791.
TreeFamTF334681.

Enzyme and pathway databases

ReactomeREACT_160300. Binding and Uptake of Ligands by Scavenger Receptors.

Gene expression databases

ArrayExpressO14791.
BgeeO14791.
CleanExHS_APOL1.
GenevestigatorO14791.

Family and domain databases

InterProIPR008405. ApoL.
[Graphical view]
PANTHERPTHR14096. PTHR14096. 1 hit.
PfamPF05461. ApoL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSAPOL1. human.
GeneWikiAPOL1.
GenomeRNAi8542.
NextBio31996.
PROO14791.
SOURCESearch...

Entry information

Entry nameAPOL1_HUMAN
AccessionPrimary (citable) accession number: O14791
Secondary accession number(s): A5PLQ4 expand/collapse secondary AC list , B4DU12, E9PF24, O60804, Q5R3P7, Q5R3P8, Q96AB8, Q96PM4, Q9BQ03
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: September 23, 2008
Last modified: April 16, 2014
This is version 129 of the entry and version 5 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM