Q9Y5C1 (ANGL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Angiopoietin-related protein 3

Alternative name(s):
Angiopoietin-5
Short name=ANG-5
Angiopoietin-like protein 3

Gene names

Name:	ANGPTL3
Synonyms:	ANGPT5
ORF Names:	UNQ153/PRO179

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	460 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)

Subcellular location	Secreted By similarity.
Tissue specificity	Expressed principally in liver. Weakly expressed in kidney. Ref.1
Involvement in disease	Defects in ANGPTL3 are the cause of familial hypobetalipoproteinemia type 2 (FHBL2) [MIM:605019]; also called combined hypobetalipoproteinemia familial. FHBL2 is 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. Ref.8
Sequence similarities	Contains 1 fibrinogen C-terminal domain.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Polymorphism
Domain	Coiled coil Signal
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	acylglycerol homeostasis Inferred from direct assay. Source: BHF-UCL artery morphogenesis Inferred from sequence or structural similarity. Source: BHF-UCL cell-matrix adhesion Inferred from physical interaction. Source: UniProtKB cholesterol homeostasis Inferred from direct assay. Source: BHF-UCL cholesterol metabolic process Inferred from direct assay. Source: BHF-UCL fatty acid metabolic process Inferred from direct assay. Source: BHF-UCL glycerol metabolic process Inferred from direct assay. Source: BHF-UCL integrin-mediated signaling pathway Non-traceable author statement. Source: UniProtKB lipid storage Inferred from direct assay. Source: BHF-UCL negative regulation of lipoprotein lipase activity Inferred from direct assay. Source: BHF-UCL negative regulation of phospholipase activity Inferred from direct assay. Source: BHF-UCL phospholipid catabolic process Inferred from direct assay. Source: BHF-UCL phospholipid homeostasis Inferred from direct assay. Source: BHF-UCL positive regulation of angiogenesis Inferred from direct assay. Source: UniProtKB positive regulation of cell migration Inferred from direct assay. Source: UniProtKB positive regulation of lipid catabolic process Inferred from direct assay. Source: BHF-UCL triglyceride homeostasis Inferred from sequence or structural similarity. Source: BHF-UCL
Cellular component	extracellular space Inferred from direct assay. Source: BHF-UCL
Molecular function	cell surface binding Inferred from direct assay. Source: BHF-UCL growth factor activity Inferred from direct assay. Source: BHF-UCL integrin binding Inferred from physical interaction. Source: UniProtKB phospholipase inhibitor activity Inferred from direct assay. Source: BHF-UCL
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 16	16	Ref.5
	Chain	17 – 460	444	Angiopoietin-related protein 3		PRO_0000009122
Regions
	Domain	237 – 455	219	Fibrinogen C-terminal
	Coiled coil	85 – 210	126	Potential
Amino acid modifications
	Glycosylation	115	1	N-linked (GlcNAc...) Ref.1 Ref.6
	Glycosylation	296	1	N-linked (GlcNAc...) Ref.6 Ref.7
	Glycosylation	357	1	N-linked (GlcNAc...) Ref.6
	Disulfide bond	246 ↔ 274		By similarity
	Disulfide bond	394 ↔ 408		By similarity
Natural variations
	Natural variant	418	1	N → Y. Corresponds to variant rs4145257 [ dbSNP | Ensembl ].		VAR_049071

Sequences

	Sequence		Length	Mass (Da)
	Q9Y5C1 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 6279465FEEB91F56	FASTA	460	53,637
	10 20 30 40 50 60 MFTIKLLLFI VPLVISSRID QDNSSFDSLS PEPKSRFAML DDVKILANGL LQLGHGLKDF 70 80 90 100 110 120 VHKTKGQIND IFQKLNIFDQ SFYDLSLQTS EIKEEEKELR RTTYKLQVKN EEVKNMSLEL 130 140 150 160 170 180 NSKLESLLEE KILLQQKVKY LEEQLTNLIQ NQPETPEHPE VTSLKTFVEK QDNSIKDLLQ 190 200 210 220 230 240 TVEDQYKQLN QQHSQIKEIE NQLRRTSIQE PTEISLSSKP RAPRTTPFLQ LNEIRNVKHD 250 260 270 280 290 300 GIPAECTTIY NRGEHTSGMY AIRPSNSQVF HVYCDVISGS PWTLIQHRID GSQNFNETWE 310 320 330 340 350 360 NYKYGFGRLD GEFWLGLEKI YSIVKQSNYV LRIELEDWKD NKHYIEYSFY LGNHETNYTL 370 380 390 400 410 420 HLVAITGNVP NAIPENKDLV FSTWDHKAKG HFNCPEGYSG GWWWHDECGE NNLNGKYNKP 430 440 450 460 RAKSKPERRR GLSWKSQNGR LYSIKSTKML IHPTDSESFE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 10644446] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, GLYCOSYLATION AT ASN-115. Tissue: Liver.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	SeattleSNPs variation discovery resource Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"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]. Tissue: Liver.
[5]	"Signal peptide prediction based on analysis of experimentally verified cleavage sites." Zhang Z., Henzel W.J. Protein Sci. 13:2819-2824(2004) [PubMed: 15340161] [Abstract] Cited for: PROTEIN SEQUENCE OF 17-31.
[6]	"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-115; ASN-296 AND ASN-357, MASS SPECTROMETRY. Tissue: Plasma.
[7]	"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: 19159218] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-296, MASS SPECTROMETRY. Tissue: Liver.
[8]	"Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia." Musunuru K., Pirruccello J.P., Do R., Peloso G.M., Guiducci C., Sougnez C., Garimella K.V., Fisher S., Abreu J., Barry A.J., Fennell T., Banks E., Ambrogio L., Cibulskis K., Kernytsky A., Gonzalez E., Rudzicz N., Engert J.C. , DePristo M.A., Daly M.J., Cohen J.C., Hobbs H.H., Altshuler D., Schonfeld G., Gabriel S.B., Yue P., Kathiresan S. N. Engl. J. Med. 363:2220-2227(2010) [PubMed: 20942659] [Abstract] Cited for: INVOLVEMENT IN FHBL2.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF152562 mRNA. Translation: AAD34156.1. AY358273 mRNA. Translation: AAQ88640.1. AY569015 Genomic DNA. Translation: AAS66984.1. BC058287 mRNA. Translation: AAH58287.1.
IPI	IPI00004957.
RefSeq	NP_055310.1. NM_014495.2.
UniGene	Hs.209153.
3D structure databases
ProteinModelPortal	Q9Y5C1.
SMR	Q9Y5C1. Positions 240-454.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y5C1. 1 interaction.
STRING	Q9Y5C1.
PTM databases
PhosphoSite	Q9Y5C1.
Polymorphism databases
DMDM	25008126.
Proteomic databases
PeptideAtlas	Q9Y5C1.
PRIDE	Q9Y5C1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000371129; ENSP00000360170; ENSG00000132855.
GeneID	27329.
KEGG	hsa:27329.
UCSC	uc001das.1. human.
Organism-specific databases
CTD	27329.
GeneCards	GC01P062998.
H-InvDB	HIX0028565.
HGNC	HGNC:491. ANGPTL3.
HPA	HPA038097.
MIM	604774. gene. 605019. phenotype.
neXtProt	NX_Q9Y5C1.
Orphanet	181434. Benign familial hypobetalipoproteinemia.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00560000076679.
HOGENOM	HBG713975.
HOVERGEN	HBG001644.
InParanoid	Q9Y5C1.
OMA	RGEHTSG.
OrthoDB	EOG4G1MGS.
PhylomeDB	Q9Y5C1.
Enzyme and pathway databases
Pathway_Interaction_DB	avb3_integrin_pathway. Integrins in angiogenesis.
Gene expression databases
ArrayExpress	Q9Y5C1.
Bgee	Q9Y5C1.
CleanEx	HS_ANGPTL3.
Genevestigator	Q9Y5C1.
GermOnline	ENSG00000132855. Homo sapiens.
Family and domain databases
InterPro	IPR002181. Fibrinogen_a/b/g_C. IPR014716. Fibrinogen_a/b/g_C_1. IPR014715. Fibrinogen_a/b/g_C_2. [Graphical view]
Gene3D	G3DSA:3.90.215.10. Fibrinogen_a/b/g_C_1. 1 hit. G3DSA:4.10.530.10. Fibrinogen_a/b/g_C_2. 1 hit.
Pfam	PF00147. Fibrinogen_C. 1 hit. [Graphical view]
SMART	SM00186. FBG. 1 hit. [Graphical view]
SUPFAM	SSF56496. Fibrinogen_a/b/g_C. 1 hit.
PROSITE	PS00514. FIBRINOGEN_C_1. False negative. PS51406. FIBRINOGEN_C_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	50368.
SOURCE	Search...

Entry information

Entry name

ANGL3_HUMAN

Accession

Primary (citable) accession number: Q9Y5C1

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 8, 2002
Last sequence update:	November 1, 1999
Last modified:	January 25, 2012
This is version 100 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.