ACVRL1
entrez
94
canonical
uniprot
P37023
canonical
ensembl
ENSG00000139567
resolver
ensp
ENSP00000373574
resolver
ensp
ENSP00000392492
resolver
ensp
ENSP00000446724
resolver
ensp
ENSP00000447884
resolver
ensp
ENSP00000455848
resolver
ensp
ENSP00000457394
resolver
ensp
ENSP00000580256
resolver
ensp
ENSP00000580257
resolver
ensp
ENSP00000580258
resolver
ensp
ENSP00000580262
resolver
ensp
ENSP00000580264
resolver
enst
ENST00000388922
resolver
enst
ENST00000551576
resolver
enst
ENST00000552678
resolver
enst
ENST00000910197
resolver
enst
ENST00000910198
resolver
enst
ENST00000910203
resolver
enst
ENST00000910205
resolver
genesymbol
ACVRL1
resolver
genesymbol_syn
ACVRLK1
resolver
genesymbol_syn
ALK1
resolver
hgnc
HGNC:175
resolver
uniprot
A0A0S2Z2Y4
resolver
uniprot
A0A0S2Z310
resolver
uniprot
A6NGA8
resolver
uniprot
H3BTZ2
resolver
uniprot_entry
A0A0S2Z2Y4_HUMAN
resolver
uniprot_entry
A0A0S2Z310_HUMAN
resolver
uniprot_entry
ACVL1_HUMAN
resolver
uniprot_entry
H3BTZ2_HUMAN
resolver
uniprot_sec
A6NGA8
resolver
amino_acid_sequence
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGESSLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARLTALRIKKTLQKISNSPEKPKVIQ
uniprot
proteins
disease_involvement
DISEASE: Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]: 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:10694922, ECO:0000269|PubMed:10767348, ECO:0000269|PubMed:11170071, ECO:0000269|PubMed:11484689, ECO:0000269|PubMed:14684682, ECO:0000269|PubMed:15024723, ECO:0000269|PubMed:15712270, ECO:0000269|PubMed:16525724, ECO:0000269|PubMed:16752392, ECO:0000269|PubMed:20414677, ECO:0000269|PubMed:26176610, ECO:0000269|PubMed:8640225, ECO:0000269|PubMed:9245985}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.30
uniprot
proteins
function
FUNCTION: Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well. {ECO:0000269|PubMed:22718755, ECO:0000269|PubMed:22799562, ECO:0000269|PubMed:26176610}.
uniprot
proteins
mass_dalton
56124
uniprot
proteins
mutagenesis
MUTAGEN 74..76; /note="REL->DFQ: Affinity for BMP9 decreased by 200-fold."; /evidence="ECO:0000269|PubMed:22799562
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
protein_family
TGFB receptor subfamily
uniprot
proteins
protein_family
TKL Ser/Thr protein kinase family
uniprot
proteins
pubmed
10694922
uniprot
proteins
pubmed
10767348
uniprot
proteins
pubmed
11170071
uniprot
proteins
pubmed
11484689
uniprot
proteins
pubmed
14684682
uniprot
proteins
pubmed
15024723
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15712270
uniprot
proteins
pubmed
16525724
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
16752392
uniprot
proteins
pubmed
20414677
uniprot
proteins
pubmed
21791611
uniprot
proteins
pubmed
22718755
uniprot
proteins
pubmed
22799562
uniprot
proteins
pubmed
24936649
uniprot
proteins
pubmed
26176610
uniprot
proteins
pubmed
8242742
uniprot
proteins
pubmed
8397373
uniprot
proteins
pubmed
8640225
uniprot
proteins
pubmed
9245985
uniprot
proteins
sequence_length
503
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26176610}; Single-pass type I membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 119..141; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins