ANGPT1
entrez
284
canonical
uniprot
Q15389
canonical
ensembl
ENSG00000154188
resolver
ensp
ENSP00000297450
resolver
ensp
ENSP00000428340
resolver
ensp
ENSP00000430750
resolver
ensp
ENSP00000676437
resolver
enst
ENST00000520734
resolver
genesymbol
ANGPT1
resolver
genesymbol_syn
KIAA0003
resolver
hgnc
HGNC:484
resolver
uniprot
B4DTQ9
resolver
uniprot
F6XVP5
resolver
uniprot
Q5HYA0
resolver
uniprot_entry
ANGP1_HUMAN
resolver
uniprot_entry
B4DTQ9_HUMAN
resolver
uniprot_entry
F6XVP5_HUMAN
resolver
uniprot_sec
Q5HYA0
resolver
amino_acid_sequence
MTVFLSFAFLAAILTHIGCSNQRRSPENSGRRYNRIQHGQCAYTFILPEHDGNCRESTTDQYNTNALQRDAPHVEPDFSSQKLQHLEHVMENYTQWLQKLENYIVENMKSEMAQIQQNAVQNHTATMLEIGTSLLSQTAEQTRKLTDVETQVLNQTSRLEIQLLENSLSTYKLEKQLLQQTNEILKIHEKNSLLEHKILEMEGKHKEELDTLKEEKENLQGLVTRQTYIIQELEKQLNRATTNNSVLQKQQLELMDTVHNLVNLCTKEGVLLKGGKREEEKPFRDCADVYQAGFNKSGIYTIYINNMPEPKKVFCNMDVNGGGWTVIQHREDGSLDFQRGWKEYKMGFGNPSGEYWLGNEFIFAITSQRQYMLRIELMDWEGNRAYSQYDRFHIGNEKQNYRLYLKGHTGTAGKQSSLILHGADFSTKDADNDNCMCKCALMLTGGWWFDACGPSNLNGMFYTAGQNHGKLNGIKWHYFKGPSYSLRSTTMMIRPLDF
uniprot
proteins
disease_involvement
DISEASE: Angioedema, hereditary, 5 (HAE5) [MIM:619361]: A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE5 is an autosomal dominant form characterized by onset of episodic swelling of the face, lips, hands, and abdomen in the second decade of life. {ECO:0000269|PubMed:28601681, ECO:0000269|PubMed:30689269}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Binds and activates TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation. Plays an important role in the regulation of angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Required for normal angiogenesis and heart development during embryogenesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells have tight contacts. In quiescent vessels, ANGPT1 oligomers recruit TEK to cell-cell contacts, forming complexes with TEK molecules from adjoining cells, and this leads to preferential activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascades. In migrating endothelial cells that lack cell-cell adhesions, ANGT1 recruits TEK to contacts with the extracellular matrix, leading to the formation of focal adhesion complexes, activation of PTK2/FAK and of the downstream kinases MAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation of sprouting angiogenesis. Mediates blood vessel maturation/stability. Implicated in endothelial developmental processes later and distinct from that of VEGF. Appears to play a crucial role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme. {ECO:0000269|PubMed:15284220, ECO:0000269|PubMed:18425119, ECO:0000269|PubMed:18425120, ECO:0000269|PubMed:30689269, ECO:0000269|PubMed:9204896}.
uniprot
proteins
mass_dalton
57513
uniprot
proteins
post_translational_modification
PTM: Glycosylated.
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12427764
uniprot
proteins
pubmed
15284220
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18425119
uniprot
proteins
pubmed
18425120
uniprot
proteins
pubmed
19234476
uniprot
proteins
pubmed
20054809
uniprot
proteins
pubmed
20651738
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28601681
uniprot
proteins
pubmed
29323190
uniprot
proteins
pubmed
30689269
uniprot
proteins
pubmed
7584026
uniprot
proteins
pubmed
8980223
uniprot
proteins
pubmed
9204896
uniprot
proteins
sequence_length
498
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:8980223}.
uniprot
proteins