ENG
entrez
2022
canonical
uniprot
P17813
canonical
ensembl
ENSG00000106991
resolver
ensp
ENSP00000341917
resolver
ensp
ENSP00000362299
resolver
ensp
ENSP00000479015
resolver
ensp
ENSP00000519249
resolver
ensp
ENSP00000778600
resolver
enst
ENST00000480266
resolver
enst
ENST00000713956
resolver
genesymbol
ENG
resolver
genesymbol_syn
END
resolver
hgnc
HGNC:3349
resolver
uniprot
B7Z6Y5
resolver
uniprot
F5GX88
resolver
uniprot
Q14248
resolver
uniprot
Q14926
resolver
uniprot
Q5T9C0
resolver
uniprot
Q96CG0
resolver
uniprot_entry
B7Z6Y5_HUMAN
resolver
uniprot_entry
EGLN_HUMAN
resolver
uniprot_entry
F5GX88_HUMAN
resolver
uniprot_entry
Q96CG0_HUMAN
resolver
uniprot_sec
Q14248
resolver
uniprot_sec
Q14926
resolver
uniprot_sec
Q5T9C0
resolver
amino_acid_sequence
MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVSKGCVAQAPNAILEVHVLFLEFPTGPSQLELTLQASKQNGTWPREVLLVLSVNSSVFLHLQALGIPLHLAYNSSLVTFQEPPGVNTTELPSFPKTQILEWAAERGPITSAAELNDPQSILLRLGQAQGSLSFCMLEASQDMGRTLEWRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVELSCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLLGEARMLNASIVASFVELPLASIVSLHASSCGGRLQTSPAPIQTTPPKDTCSPELLMSLIQTKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSSTNHSIGSTQSTPCSTSSMA
uniprot
proteins
disease_involvement
DISEASE: Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]: A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain. {ECO:0000269|PubMed:10545596, ECO:0000269|PubMed:10625079, ECO:0000269|PubMed:10982033, ECO:0000269|PubMed:15024723, ECO:0000269|PubMed:15712270, ECO:0000269|PubMed:16525724, ECO:0000269|PubMed:16752392, ECO:0000269|PubMed:20414677, ECO:0000269|PubMed:7894484, ECO:0000269|PubMed:9157574, ECO:0000269|PubMed:9245986, ECO:0000269|PubMed:9554745}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as a TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:21737454, PubMed:22347366, PubMed:23300529, PubMed:8370410). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529). {ECO:0000250|UniProtKB:Q63961, ECO:0000269|PubMed:17540773, ECO:0000269|PubMed:21737454, ECO:0000269|PubMed:23300529, ECO:0000269|PubMed:7894484, ECO:0000269|PubMed:8370410, ECO:0000305|PubMed:1692830}.
uniprot
proteins
mass_dalton
70578
uniprot
proteins
mutagenesis
MUTAGEN 246; /note="D->A: No effect on interaction with GDF2."; /evidence="ECO:0000269|PubMed:28564608"; MUTAGEN 269; /note="M->A: Impairs protein folding, but does not abolish interaction with GDF2."; /evidence="ECO:0000269|PubMed:28564608"; MUTAGEN 270..271; /note="QI->AA: Loss of interaction with GDF2."; /evidence="ECO:0000269|PubMed:28564608"; MUTAGEN 277; /note="Y->A: No effect on interaction with GDF2."; /evidence="ECO:0000269|PubMed:28564608"; MUTAGEN 278; /note="S->P: Loss of interaction with GDF2."; /evidence="ECO:0000269|PubMed:28564608"; MUTAGEN 282; /note="F->V: Loss of interaction with GDF2."; /evidence="ECO:0000269|PubMed:28564608"; MUTAGEN 290; /note="F->A: No effect on interaction with GDF2."; /evidence="ECO:0000269|PubMed:28564608"; MUTAGEN 350; /note="C->S: Impairs protein folding. Impairs protein folding; when associated with C-382."; /evidence="ECO:0000269|PubMed:28564608"; MUTAGEN 382; /note="C->S: Impairs protein folding. Impairs protein folding; when associated with C-350."; /evidence="ECO:0000269|PubMed:28564608"; MUTAGEN 516; /note="C->S: Loss of dimerization via ZP domain."; /evidence="ECO:0000269|PubMed:28564608"; MUTAGEN 650; /note="T->A: Loss of interaction with ARRB2."; /evidence="ECO:0000269|PubMed:17540773
uniprot
proteins
pubmed
10545596
uniprot
proteins
pubmed
10625079
uniprot
proteins
pubmed
10982033
uniprot
proteins
pubmed
1326540
uniprot
proteins
pubmed
15024723
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15712270
uniprot
proteins
pubmed
16525724
uniprot
proteins
pubmed
16752392
uniprot
proteins
pubmed
1692830
uniprot
proteins
pubmed
16982625
uniprot
proteins
pubmed
17540773
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
20414677
uniprot
proteins
pubmed
21737454
uniprot
proteins
pubmed
22347366
uniprot
proteins
pubmed
23300529
uniprot
proteins
pubmed
28564608
uniprot
proteins
pubmed
7894484
uniprot
proteins
pubmed
8370410
uniprot
proteins
pubmed
9157574
uniprot
proteins
pubmed
9245986
uniprot
proteins
pubmed
9554745
uniprot
proteins
sequence_length
658
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10545596, ECO:0000269|PubMed:1326540, ECO:0000269|PubMed:1692830, ECO:0000269|PubMed:17540773, ECO:0000269|PubMed:8370410}; Single-pass type I membrane protein {ECO:0000305|PubMed:1692830, ECO:0000305|PubMed:8370410}.
uniprot
proteins
transmembrane_region
TRANSMEM 587..611; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins