Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O14791

- APOL1_HUMAN

UniProt

O14791 - APOL1_HUMAN

Protein

Apolipoprotein L1

Gene

APOL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 5 (23 Sep 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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
    3. protein 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

    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

    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

    ArrayExpressiO14791.
    BgeeiO14791.
    CleanExiHS_APOL1.
    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.
    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

    MEGAALLRVS VLCIWMSALF LGVGVRAEEA GARVQQNVPS GTDTGDPQSK    50
    PLGDWAAGTM DPESSIFIED AIKYFKEKVS TQNLLLLLTD NEAWNGFVAA 100
    AELPRNEADE LRKALDNLAR QMIMKDKNWH DKGQQYRNWF LKEFPRLKSE 150
    LEDNIRRLRA LADGVQKVHK GTTIANVVSG SLSISSGILT LVGMGLAPFT 200
    EGGSLVLLEP GMELGITAAL TGITSSTMDY GKKWWTQAQA HDLVIKSLDK 250
    LKEVREFLGE NISNFLSLAG NTYQLTRGIG KDIRALRRAR ANLQSVPHAS 300
    ASRPRVTEPI SAESGEQVER VNEPSILEMS RGVKLTDVAP VSFFLVLDVV 350
    YLVYESKHLH EGAKSETAEE LKKVAQELEE KLNILNNNYK ILQADQEL 398

    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.
    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

    ArrayExpressi O14791.
    Bgeei O14791.
    CleanExi HS_APOL1.
    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

    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 1, 2014
    This is version 134 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