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O14791

- APOL1_HUMAN

UniProt

O14791 - APOL1_HUMAN

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Protein

Apolipoprotein L1

Gene

APOL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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.

GO - Molecular functioni

  1. chloride channel activity Source: BHF-UCL
  2. lipid binding Source: BHF-UCL

GO - Biological processi

  1. chloride transmembrane transport Source: GOC
  2. chloride transport Source: BHF-UCL
  3. cholesterol metabolic process Source: UniProtKB-KW
  4. cytolysis Source: BHF-UCL
  5. innate immune response Source: BHF-UCL
  6. killing of cells of other organism Source: BHF-UCL
  7. lipid transport Source: UniProtKB-KW
  8. lipoprotein metabolic process Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Cholesterol metabolism, Lipid metabolism, Lipid transport, Steroid metabolism, Sterol metabolism, Transport

Enzyme and pathway databases

ReactomeiREACT_160163. Scavenging of heme from plasma.

Names & Taxonomyi

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
Gene namesi
Name:APOL1
Synonyms:APOL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:618. APOL1.

Subcellular locationi

GO - Cellular componenti

  1. blood microparticle Source: UniProt
  2. extracellular region Source: Reactome
  3. extracellular space Source: BHF-UCL
  4. high-density lipoprotein particle Source: BHF-UCL
  5. intrinsic component of membrane Source: BHF-UCL
  6. very-low-density lipoprotein particle Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

HDL, Secreted

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti342 – 3421S → G in FSGS4. 3 Publications
Corresponds to variant rs73885319 [ dbSNP | Ensembl ].
VAR_063598
Natural varianti384 – 3841I → M in FSGS4. 3 Publications
Corresponds to variant rs60910145 [ dbSNP | Ensembl ].
VAR_061995

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi612551. phenotype.
Orphaneti93218. Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBiPA24904.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 27271 PublicationAdd
BLAST
Chaini28 – 398371Apolipoprotein L1PRO_0000002040Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi261 – 2611N-linked (GlcNAc...)1 Publication

Post-translational modificationi

Phosphorylation sites are present in the extracellular medium.

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiO14791.
PaxDbiO14791.
PRIDEiO14791.

PTM databases

PhosphoSiteiO14791.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiO14791.
CleanExiHS_APOL1.
ExpressionAtlasiO14791. baseline and differential.
GenevestigatoriO14791.

Organism-specific databases

HPAiCAB056156.
HPA018885.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi114112. 1 interaction.
IntActiO14791. 1 interaction.
STRINGi9606.ENSP00000317674.

Structurei

3D structure databases

ProteinModelPortaliO14791.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the apolipoprotein L family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG125779.
GeneTreeiENSGT00510000046700.
HOVERGENiHBG074468.
InParanoidiO14791.
KOiK14480.
OMAiKGTTIAN.
OrthoDBiEOG7GXPBT.
PhylomeDBiO14791.
TreeFamiTF334681.

Family and domain databases

InterProiIPR008405. ApoL.
[Graphical view]
PANTHERiPTHR14096. PTHR14096. 1 hit.
PfamiPF05461. ApoL. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O14791-1) [UniParc]FASTAAdd to Basket

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.

« 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
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.

Note: No experimental confirmation available.

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

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti24 – 241G → R in AAG53690. (PubMed:9325276)Curated
Sequence conflicti24 – 241G → R in AAK11591. (PubMed:11290834)Curated
Sequence conflicti256 – 2561E → G in AAK20210. (PubMed:11374903)Curated
Sequence conflicti346 – 3461V → A in AAK20210. (PubMed:11374903)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti150 – 1501E → K.3 Publications
Corresponds to variant rs2239785 [ dbSNP | Ensembl ].
VAR_011383
Natural varianti188 – 1881I → T in a breast cancer sample; somatic mutation. 1 Publication
VAR_036568
Natural varianti228 – 2281M → I.4 Publications
Corresponds to variant rs136175 [ dbSNP | Ensembl ].
VAR_011384
Natural varianti255 – 2551R → K.4 Publications
Corresponds to variant rs136176 [ dbSNP | Ensembl ].
VAR_011385
Natural varianti337 – 3371D → N.
Corresponds to variant rs16996616 [ dbSNP | Ensembl ].
VAR_046641
Natural varianti342 – 3421S → G in FSGS4. 3 Publications
Corresponds to variant rs73885319 [ dbSNP | Ensembl ].
VAR_063598
Natural varianti384 – 3841I → M in FSGS4. 3 Publications
Corresponds to variant rs60910145 [ dbSNP | Ensembl ].
VAR_061995

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MRFKSHTVELRRPCSDM in isoform 2. 1 PublicationVSP_000292
Alternative sequencei16 – 3318Missing in isoform 3. 1 PublicationVSP_045077Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
AK300454 mRNA. Translation: BAG62174.1.
Z82215 Genomic DNA. Translation: CAI22438.1.
Z82215 Genomic DNA. Translation: CAQ09089.1.
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_005261796.1. [O14791-3]
UniGeneiHs.114309.

Genome annotation databases

EnsembliENST00000319136; ENSP00000317674; ENSG00000100342. [O14791-2]
ENST00000397278; ENSP00000380448; ENSG00000100342. [O14791-1]
ENST00000397279; ENSP00000380449; ENSG00000100342. [O14791-1]
ENST00000422706; ENSP00000411507; ENSG00000100342. [O14791-1]
ENST00000426053; ENSP00000388477; ENSG00000100342. [O14791-3]
GeneIDi8542.
KEGGihsa:8542.
UCSCiuc003ape.3. human. [O14791-2]
uc003apf.3. human. [O14791-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
AK300454 mRNA. Translation: BAG62174.1 .
Z82215 Genomic DNA. Translation: CAI22438.1 .
Z82215 Genomic DNA. Translation: CAQ09089.1 .
BC143039 mRNA. Translation: AAI43040.1 .
CCDSi CCDS13925.1. [O14791-2 ]
CCDS13926.1. [O14791-1 ]
CCDS46702.1. [O14791-3 ]
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_005261796.1. [O14791-3 ]
UniGenei Hs.114309.

3D structure databases

ProteinModelPortali O14791.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114112. 1 interaction.
IntActi O14791. 1 interaction.
STRINGi 9606.ENSP00000317674.

PTM databases

PhosphoSitei O14791.

Proteomic databases

MaxQBi O14791.
PaxDbi O14791.
PRIDEi O14791.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000319136 ; ENSP00000317674 ; ENSG00000100342 . [O14791-2 ]
ENST00000397278 ; ENSP00000380448 ; ENSG00000100342 . [O14791-1 ]
ENST00000397279 ; ENSP00000380449 ; ENSG00000100342 . [O14791-1 ]
ENST00000422706 ; ENSP00000411507 ; ENSG00000100342 . [O14791-1 ]
ENST00000426053 ; ENSP00000388477 ; ENSG00000100342 . [O14791-3 ]
GeneIDi 8542.
KEGGi hsa:8542.
UCSCi uc003ape.3. human. [O14791-2 ]
uc003apf.3. human. [O14791-1 ]

Organism-specific databases

CTDi 8542.
GeneCardsi GC22P036649.
H-InvDB HIX0016423.
HGNCi HGNC:618. APOL1.
HPAi CAB056156.
HPA018885.
MIMi 603743. gene.
612551. phenotype.
neXtProti NX_O14791.
Orphaneti 93218. Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBi PA24904.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG125779.
GeneTreei ENSGT00510000046700.
HOVERGENi HBG074468.
InParanoidi O14791.
KOi K14480.
OMAi KGTTIAN.
OrthoDBi EOG7GXPBT.
PhylomeDBi O14791.
TreeFami TF334681.

Enzyme and pathway databases

Reactomei REACT_160163. Scavenging of heme from plasma.

Miscellaneous databases

ChiTaRSi APOL1. human.
GeneWikii APOL1.
GenomeRNAii 8542.
NextBioi 31996.
PROi O14791.
SOURCEi Search...

Gene expression databases

Bgeei O14791.
CleanExi HS_APOL1.
ExpressionAtlasi O14791. baseline and differential.
Genevestigatori O14791.

Family and domain databases

InterProi IPR008405. ApoL.
[Graphical view ]
PANTHERi PTHR14096. PTHR14096. 1 hit.
Pfami PF05461. ApoL. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: VARIANTS FSGS4 GLY-342 AND MET-384.

Entry informationi

Entry nameiAPOL1_HUMAN
AccessioniPrimary (citable) accession number: O14791
Secondary accession number(s): A5PLQ4
, B4DU12, E9PF24, O60804, Q5R3P7, Q5R3P8, Q96AB8, Q96PM4, Q9BQ03
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: September 23, 2008
Last modified: October 29, 2014
This is version 135 of the entry and version 5 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, 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 polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3