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Q9Y5C1

- ANGL3_HUMAN

UniProt

Q9Y5C1 - ANGL3_HUMAN

Protein

Angiopoietin-related protein 3

Gene

ANGPTL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. enzyme inhibitor activity Source: UniProtKB
    2. growth factor activity Source: BHF-UCL
    3. integrin binding Source: UniProtKB
    4. phospholipase inhibitor activity Source: BHF-UCL

    GO - Biological processi

    1. acylglycerol homeostasis Source: BHF-UCL
    2. artery morphogenesis Source: BHF-UCL
    3. cell-matrix adhesion Source: UniProtKB
    4. cholesterol homeostasis Source: BHF-UCL
    5. cholesterol metabolic process Source: BHF-UCL
    6. fatty acid metabolic process Source: BHF-UCL
    7. glycerol metabolic process Source: BHF-UCL
    8. integrin-mediated signaling pathway Source: UniProtKB
    9. lipid homeostasis Source: BHF-UCL
    10. lipid storage Source: BHF-UCL
    11. negative regulation of lipoprotein lipase activity Source: BHF-UCL
    12. negative regulation of phospholipase activity Source: BHF-UCL
    13. phospholipid catabolic process Source: BHF-UCL
    14. phospholipid homeostasis Source: BHF-UCL
    15. phospholipid metabolic process Source: BHF-UCL
    16. positive regulation of angiogenesis Source: UniProtKB
    17. positive regulation of cell migration Source: UniProtKB
    18. positive regulation of lipid catabolic process Source: BHF-UCL
    19. response to hormone Source: Ensembl
    20. signal transduction Source: BHF-UCL
    21. triglyceride homeostasis Source: BHF-UCL

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Angiopoietin-related protein 3
    Alternative name(s):
    Angiopoietin-5
    Short name:
    ANG-5
    Angiopoietin-like protein 3
    Gene namesi
    Name:ANGPTL3
    Synonyms:ANGPT5
    ORF Names:UNQ153/PRO179
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:491. ANGPTL3.

    Subcellular locationi

    Secreted By similarity

    GO - Cellular componenti

    1. cell surface Source: BHF-UCL
    2. extracellular space Source: BHF-UCL

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Hypobetalipoproteinemia, familial, 2 (FHBL2) [MIM:605019]: A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Affected individuals present with combined hypolipidemia, consisting of extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi605019. phenotype.
    Orphaneti426. Familial hypobetalipoproteinemia.
    PharmGKBiPA24796.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 16161 PublicationAdd
    BLAST
    Chaini17 – 460444Angiopoietin-related protein 3PRO_0000009122Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi115 – 1151N-linked (GlcNAc...)2 Publications
    Disulfide bondi246 ↔ 274PROSITE-ProRule annotation
    Glycosylationi296 – 2961N-linked (GlcNAc...)2 Publications
    Glycosylationi357 – 3571N-linked (GlcNAc...)1 Publication
    Disulfide bondi394 ↔ 408PROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ9Y5C1.
    PeptideAtlasiQ9Y5C1.
    PRIDEiQ9Y5C1.

    PTM databases

    PhosphoSiteiQ9Y5C1.

    Expressioni

    Tissue specificityi

    Expressed principally in liver. Weakly expressed in kidney.1 Publication

    Gene expression databases

    ArrayExpressiQ9Y5C1.
    BgeeiQ9Y5C1.
    CleanExiHS_ANGPTL3.
    GenevestigatoriQ9Y5C1.

    Organism-specific databases

    HPAiHPA038097.

    Interactioni

    Subunit structurei

    Interacts with C19orf80/ANGPTL8.1 Publication

    Protein-protein interaction databases

    BioGridi118143. 1 interaction.
    IntActiQ9Y5C1. 1 interaction.
    STRINGi9606.ENSP00000360170.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y5C1.
    SMRiQ9Y5C1. Positions 123-455.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini237 – 455219Fibrinogen C-terminalPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili85 – 210126Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 1 fibrinogen C-terminal domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Signal

    Phylogenomic databases

    eggNOGiNOG262343.
    HOGENOMiHOG000015386.
    HOVERGENiHBG001644.
    InParanoidiQ9Y5C1.
    OMAiTKMLIHP.
    OrthoDBiEOG7X9G60.
    PhylomeDBiQ9Y5C1.
    TreeFamiTF336658.

    Family and domain databases

    Gene3Di3.90.215.10. 1 hit.
    4.10.530.10. 1 hit.
    InterProiIPR014716. Fibrinogen_a/b/g_C_1.
    IPR014715. Fibrinogen_a/b/g_C_2.
    IPR002181. Fibrinogen_a/b/g_C_dom.
    [Graphical view]
    PfamiPF00147. Fibrinogen_C. 1 hit.
    [Graphical view]
    SMARTiSM00186. FBG. 1 hit.
    [Graphical view]
    SUPFAMiSSF56496. SSF56496. 1 hit.
    PROSITEiPS51406. FIBRINOGEN_C_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q9Y5C1-1 [UniParc]FASTAAdd to Basket

    « Hide

    MFTIKLLLFI VPLVISSRID QDNSSFDSLS PEPKSRFAML DDVKILANGL    50
    LQLGHGLKDF VHKTKGQIND IFQKLNIFDQ SFYDLSLQTS EIKEEEKELR 100
    RTTYKLQVKN EEVKNMSLEL NSKLESLLEE KILLQQKVKY LEEQLTNLIQ 150
    NQPETPEHPE VTSLKTFVEK QDNSIKDLLQ TVEDQYKQLN QQHSQIKEIE 200
    NQLRRTSIQE PTEISLSSKP RAPRTTPFLQ LNEIRNVKHD GIPAECTTIY 250
    NRGEHTSGMY AIRPSNSQVF HVYCDVISGS PWTLIQHRID GSQNFNETWE 300
    NYKYGFGRLD GEFWLGLEKI YSIVKQSNYV LRIELEDWKD NKHYIEYSFY 350
    LGNHETNYTL HLVAITGNVP NAIPENKDLV FSTWDHKAKG HFNCPEGYSG 400
    GWWWHDECGE NNLNGKYNKP RAKSKPERRR GLSWKSQNGR LYSIKSTKML 450
    IHPTDSESFE 460
    Length:460
    Mass (Da):53,637
    Last modified:November 1, 1999 - v1
    Checksum:i6279465FEEB91F56
    GO

    Sequence cautioni

    The sequence AAH07059.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti134 – 1341L → P in BAG37708. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti127 – 1271L → F.1 Publication
    Corresponds to variant rs72649573 [ dbSNP | Ensembl ].
    VAR_067283
    Natural varianti418 – 4181N → Y.
    Corresponds to variant rs4145257 [ dbSNP | Ensembl ].
    VAR_049071

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF152562 mRNA. Translation: AAD34156.1.
    AY358273 mRNA. Translation: AAQ88640.1.
    AK315304 mRNA. Translation: BAG37708.1.
    AY569015 Genomic DNA. Translation: AAS66984.1.
    FJ515851 Genomic DNA. Translation: ACS13743.1.
    CH471059 Genomic DNA. Translation: EAX06583.1.
    BC007059 mRNA. Translation: AAH07059.1. Sequence problems.
    BC058287 mRNA. Translation: AAH58287.1.
    CCDSiCCDS622.1.
    RefSeqiNP_055310.1. NM_014495.3.
    UniGeneiHs.209153.

    Genome annotation databases

    EnsembliENST00000371129; ENSP00000360170; ENSG00000132855.
    GeneIDi27329.
    KEGGihsa:27329.
    UCSCiuc001das.2. human.

    Polymorphism databases

    DMDMi25008126.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF152562 mRNA. Translation: AAD34156.1 .
    AY358273 mRNA. Translation: AAQ88640.1 .
    AK315304 mRNA. Translation: BAG37708.1 .
    AY569015 Genomic DNA. Translation: AAS66984.1 .
    FJ515851 Genomic DNA. Translation: ACS13743.1 .
    CH471059 Genomic DNA. Translation: EAX06583.1 .
    BC007059 mRNA. Translation: AAH07059.1 . Sequence problems.
    BC058287 mRNA. Translation: AAH58287.1 .
    CCDSi CCDS622.1.
    RefSeqi NP_055310.1. NM_014495.3.
    UniGenei Hs.209153.

    3D structure databases

    ProteinModelPortali Q9Y5C1.
    SMRi Q9Y5C1. Positions 123-455.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118143. 1 interaction.
    IntActi Q9Y5C1. 1 interaction.
    STRINGi 9606.ENSP00000360170.

    PTM databases

    PhosphoSitei Q9Y5C1.

    Polymorphism databases

    DMDMi 25008126.

    Proteomic databases

    PaxDbi Q9Y5C1.
    PeptideAtlasi Q9Y5C1.
    PRIDEi Q9Y5C1.

    Protocols and materials databases

    DNASUi 27329.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000371129 ; ENSP00000360170 ; ENSG00000132855 .
    GeneIDi 27329.
    KEGGi hsa:27329.
    UCSCi uc001das.2. human.

    Organism-specific databases

    CTDi 27329.
    GeneCardsi GC01P062998.
    HGNCi HGNC:491. ANGPTL3.
    HPAi HPA038097.
    MIMi 604774. gene.
    605019. phenotype.
    neXtProti NX_Q9Y5C1.
    Orphaneti 426. Familial hypobetalipoproteinemia.
    PharmGKBi PA24796.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG262343.
    HOGENOMi HOG000015386.
    HOVERGENi HBG001644.
    InParanoidi Q9Y5C1.
    OMAi TKMLIHP.
    OrthoDBi EOG7X9G60.
    PhylomeDBi Q9Y5C1.
    TreeFami TF336658.

    Miscellaneous databases

    GeneWikii ANGPTL3.
    GenomeRNAii 27329.
    NextBioi 35459927.
    PROi Q9Y5C1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y5C1.
    Bgeei Q9Y5C1.
    CleanExi HS_ANGPTL3.
    Genevestigatori Q9Y5C1.

    Family and domain databases

    Gene3Di 3.90.215.10. 1 hit.
    4.10.530.10. 1 hit.
    InterProi IPR014716. Fibrinogen_a/b/g_C_1.
    IPR014715. Fibrinogen_a/b/g_C_2.
    IPR002181. Fibrinogen_a/b/g_C_dom.
    [Graphical view ]
    Pfami PF00147. Fibrinogen_C. 1 hit.
    [Graphical view ]
    SMARTi SM00186. FBG. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56496. SSF56496. 1 hit.
    PROSITEi PS51406. FIBRINOGEN_C_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a mammalian angiopoietin-related protein expressed specifically in liver."
      Conklin D., Gilbertson D., Taft D.W., Maurer M.F., Whitmore T.E., Smith D.L., Walker K.M., Chen L.H., Wattler S., Nehls M., Lewis K.B.
      Genomics 62:477-482(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, GLYCOSYLATION AT ASN-115.
      Tissue: Liver.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "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].
      Tissue: Liver.
    4. SeattleSNPs variation discovery resource
      Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. NHLBI resequencing and genotyping service (RS&G)
      Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    6. 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].
      Tissue: Liver and Skeletal muscle.
    8. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
      Zhang Z., Henzel W.J.
      Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 17-31.
    9. "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-115; ASN-296 AND ASN-357.
      Tissue: Plasma.
    10. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-296.
      Tissue: Liver.
    11. Cited for: INVOLVEMENT IN FHBL2.
    12. Cited for: INTERACTION WITH C19ORF80/ANGPTL8.
    13. "Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels."
      Huijgen R., Sjouke B., Vis K., de Randamie J.S., Defesche J.C., Kastelein J.J., Hovingh G.K., Fouchier S.W.
      Hum. Mutat. 33:448-455(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PHE-127.

    Entry informationi

    Entry nameiANGL3_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y5C1
    Secondary accession number(s): A0JLS0, B1ALJ0, B2RCW1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 8, 2002
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 126 of the entry and version 1 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 1
      Human chromosome 1: 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