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Q9Y5C1

- ANGL3_HUMAN

UniProt

Q9Y5C1 - ANGL3_HUMAN

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Protein

Angiopoietin-related protein 3

Gene

ANGPTL3

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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ9Y5C1.
CleanExiHS_ANGPTL3.
ExpressionAtlasiQ9Y5C1. baseline and differential.
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.
GeneTreeiENSGT00770000120463.
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

        10         20         30         40         50
MFTIKLLLFI VPLVISSRID QDNSSFDSLS PEPKSRFAML DDVKILANGL
60 70 80 90 100
LQLGHGLKDF VHKTKGQIND IFQKLNIFDQ SFYDLSLQTS EIKEEEKELR
110 120 130 140 150
RTTYKLQVKN EEVKNMSLEL NSKLESLLEE KILLQQKVKY LEEQLTNLIQ
160 170 180 190 200
NQPETPEHPE VTSLKTFVEK QDNSIKDLLQ TVEDQYKQLN QQHSQIKEIE
210 220 230 240 250
NQLRRTSIQE PTEISLSSKP RAPRTTPFLQ LNEIRNVKHD GIPAECTTIY
260 270 280 290 300
NRGEHTSGMY AIRPSNSQVF HVYCDVISGS PWTLIQHRID GSQNFNETWE
310 320 330 340 350
NYKYGFGRLD GEFWLGLEKI YSIVKQSNYV LRIELEDWKD NKHYIEYSFY
360 370 380 390 400
LGNHETNYTL HLVAITGNVP NAIPENKDLV FSTWDHKAKG HFNCPEGYSG
410 420 430 440 450
GWWWHDECGE NNLNGKYNKP RAKSKPERRR GLSWKSQNGR LYSIKSTKML
460
IHPTDSESFE
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.Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00770000120463.
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

Bgeei Q9Y5C1.
CleanExi HS_ANGPTL3.
ExpressionAtlasi Q9Y5C1. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 128 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