Reviewed, UniProtKB/Swiss-Prot O14791 (APOL1_HUMAN)

Names and origin

Protein names

Recommended name:
    Apolipoprotein L1
Alternative name(s):
    Apolipoprotein L-I
      Short name=ApoL-I
    Apolipoprotein L
      Short name=Apo-L
      Short name=ApoL

Gene names

Name:	APOL1
Synonyms:	APOL

Organism

Homo sapiens (Human) [Complete 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	Secreted.
Tissue specificity	Plasma. Found on APOA-I-containing high density lipoprotein (HDL3). Expressed in pancreas, lung, prostate, liver, placenta and spleen.
Sequence similarities	Belongs to the apolipoprotein L family.

Ontologies

Keywords
Biological process	Cholesterol metabolism Lipid metabolism Lipid transport Steroid metabolism Transport
Cellular component	HDL Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal
PTM	Glycoprotein
Technical term	Complete proteome Direct protein sequencing
Gene Ontology (GO)
Biological process	chloride transport Inferred from direct assay. Source: UniProtKB cholesterol metabolic process Inferred from electronic annotation. Source: UniProtKB-KW cytolysis Inferred from direct assay. Source: UniProtKB innate immune response Inferred from direct assay. Source: UniProtKB killing of cells of another organism Inferred from direct assay. Source: UniProtKB lipid transport Inferred from electronic annotation. Source: UniProtKB-KW lipoprotein metabolic process Inferred from electronic annotation. Source: InterPro
Cellular component	high-density lipoprotein particle Ref.1 Inferred from direct assay. Source: UniProtKB intrinsic to membrane Inferred by curator. Source: UniProtKB very-low-density lipoprotein particle Inferred from direct assay. Source: UniProtKB
Molecular function	chloride channel activity Inferred from direct assay. Source: UniProtKB lipid binding Inferred from direct assay. Source: UniProtKB protein binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 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

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.7
Natural variations
	Alternative sequence	1	1	M → MRFKSHTVELRRPCSDM in isoform 2.		VSP_000292
	Natural variant	150	1	E → K: dbSNP rs2239785. Ref.1 Ref.2		VAR_011383
	Natural variant	188	1	I → T in a breast cancer sample; somatic mutation. Ref.8		VAR_036568
	Natural variant	228	1	M → I: dbSNP rs136175. Ref.1 Ref.2 Ref.4		VAR_011384
	Natural variant	255	1	R → K: dbSNP rs136176. Ref.1 Ref.2 Ref.4		VAR_011385
	Natural variant	337	1	D → N: dbSNP rs16996616.		VAR_046641
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	342	1	S → G in AAL09358. Ref.4
	Sequence conflict	346	1	V → A in AAK20210. Ref.3
	Sequence conflict	384	1	I → M in AAL09358. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (A) [UniParc]. Last modified September 23, 2008. Version 5. Checksum: BD1A8F1D7C5A889F	FASTA	398	43,974
	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
	Isoform 2 (B). Checksum: FFB6B4E66BA3F953	FASTA	414	45,918
	10 20 30 40 50 60 MRFKSHTVEL RRPCSDMEGA ALLRVSVLCI WMSALFLGVG VRAEEAGARV QQNVPSGTDT 70 80 90 100 110 120 GDPQSKPLGD WAAGTMDPES SIFIEDAIKY FKEKVSTQNL LLLLTDNEAW NGFVAAAELP 130 140 150 160 170 180 RNEADELRKA LDNLARQMIM KDKNWHDKGQ QYRNWFLKEF PRLKSELEDN IRRLRALADG 190 200 210 220 230 240 VQKVHKGTTI ANVVSGSLSI SSGILTLVGM GLAPFTEGGS LVLLEPGMEL GITAALTGIT 250 260 270 280 290 300 SSTMDYGKKW WTQAQAHDLV IKSLDKLKEV REFLGENISN FLSLAGNTYQ LTRGIGKDIR 310 320 330 340 350 360 ALRRARANLQ SVPHASASRP RVTEPISAES GEQVERVNEP SILEMSRGVK LTDVAPVSFF 370 380 390 400 410 LVLDVVYLVY ESKHLHEGAK SETAEELKKV AQELEEKLNI LNNNYKILQA DQEL

References

	« Hide 'large scale' referencesShow '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: 9325276] [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: 11290834] [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: 11374903] [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: 11944986] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ILE-228 AND LYS-255.
[5]	"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. , 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: 10591208] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[7]	"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: 16335952] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-261, MASS SPECTROMETRY. Tissue: Plasma.
[8]	"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. , 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: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-188.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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. Z82215 Genomic DNA. Translation: CAI22438.1. Z82215 Genomic DNA. Translation: CAQ09089.1. BC143039 mRNA. Translation: AAI43040.1.
IPI	IPI00186903. IPI00514475.
RefSeq	NP_001130012.1. NP_003652.2. NP_663318.1.
UniGene	Hs.114309
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	O14791.
PTM databases
PhosphoSite	O14791.
Proteomic databases
PRIDE	O14791.
Genome annotation databases
Ensembl	ENST00000319136; ENSP00000317674; ENSG00000100342; Homo sapiens. [Genome view] ENST00000397278; ENSP00000380448; ENSG00000100342; Homo sapiens. [Genome view] ENST00000397279; ENSP00000380449; ENSG00000100342; Homo sapiens. [Genome view] ENST00000416338; ENSP00000387372; ENSG00000100342; Homo sapiens. [Genome view] ENST00000422706; ENSP00000411507; ENSG00000100342; Homo sapiens. [Genome view]
GeneID	8542.
KEGG	hsa:8542.
Organism-specific databases
CTD	8542.
GeneCards	GC22P034973.
HGNC	HGNC:618. APOL1.
HPA	HPA018885.
MIM	603743. gene.
PharmGKB	PA24904.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	O14791.
OMA	HASASRP
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. ApoL. 1 hit.
Pfam	PF05461. ApoL. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	31996.
SOURCE	Search...

Entry information

Entry name

APOL1_HUMAN

Accession

Primary (citable) accession number: O14791
Secondary accession number(s): A5PLQ4 , O60804, Q5R3P7, Q5R3P8, Q96AB8, Q96PM4, Q9BQ03

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	September 23, 2008
Last modified:	November 24, 2009
This is version 91 of the entry and version 5 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.