ACVR1
entrez
90
canonical
uniprot
Q04771
canonical
ensembl
ENSG00000115170
resolver
ensp
ENSP00000263640
resolver
ensp
ENSP00000387127
resolver
ensp
ENSP00000387273
resolver
ensp
ENSP00000400767
resolver
ensp
ENSP00000405004
resolver
ensp
ENSP00000440091
resolver
ensp
ENSP00000500109
resolver
ensp
ENSP00000500605
resolver
ensp
ENSP00000507086
resolver
ensp
ENSP00000507102
resolver
ensp
ENSP00000507113
resolver
ensp
ENSP00000507727
resolver
ensp
ENSP00000507730
resolver
ensp
ENSP00000508136
resolver
ensp
ENSP00000508189
resolver
ensp
ENSP00000534710
resolver
ensp
ENSP00000534711
resolver
ensp
ENSP00000534712
resolver
ensp
ENSP00000534713
resolver
ensp
ENSP00000534714
resolver
ensp
ENSP00000534715
resolver
ensp
ENSP00000534716
resolver
ensp
ENSP00000534718
resolver
ensp
ENSP00000534719
resolver
ensp
ENSP00000534720
resolver
ensp
ENSP00000534721
resolver
ensp
ENSP00000534722
resolver
ensp
ENSP00000534723
resolver
ensp
ENSP00000615810
resolver
ensp
ENSP00000615812
resolver
ensp
ENSP00000615813
resolver
ensp
ENSP00000615814
resolver
ensp
ENSP00000615815
resolver
ensp
ENSP00000615817
resolver
ensp
ENSP00000615818
resolver
ensp
ENSP00000615820
resolver
enst
ENST00000263640
resolver
enst
ENST00000409283
resolver
enst
ENST00000410057
resolver
enst
ENST00000424669
resolver
enst
ENST00000434821
resolver
enst
ENST00000539637
resolver
enst
ENST00000672582
resolver
enst
ENST00000673324
resolver
enst
ENST00000682025
resolver
enst
ENST00000682300
resolver
enst
ENST00000683441
resolver
enst
ENST00000683487
resolver
enst
ENST00000683820
resolver
enst
ENST00000684348
resolver
enst
ENST00000684595
resolver
enst
ENST00000864651
resolver
enst
ENST00000864652
resolver
enst
ENST00000864653
resolver
enst
ENST00000864654
resolver
enst
ENST00000864655
resolver
enst
ENST00000864656
resolver
enst
ENST00000864657
resolver
enst
ENST00000864659
resolver
enst
ENST00000864660
resolver
enst
ENST00000864661
resolver
enst
ENST00000864662
resolver
enst
ENST00000864663
resolver
enst
ENST00000864664
resolver
enst
ENST00000945751
resolver
enst
ENST00000945753
resolver
enst
ENST00000945754
resolver
enst
ENST00000945755
resolver
enst
ENST00000945756
resolver
enst
ENST00000945758
resolver
enst
ENST00000945759
resolver
enst
ENST00000945761
resolver
genesymbol
ACVR1
resolver
genesymbol_syn
ACVRLK2
resolver
hgnc
HGNC:171
resolver
uniprot
D3DPA4
resolver
uniprot
D3DPA5
resolver
uniprot_entry
ACVR1_HUMAN
resolver
uniprot_entry
D3DPA4_HUMAN
resolver
uniprot_sec
D3DPA5
resolver
amino_acid_sequence
MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSINDGFHVYQKGCFQVYEQGKMTCKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNFHLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPRDVEYGTIEGLITTNVGDSTLADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSRDEKSWFRETELYNTVMLRHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTLDTVSCLRIVLSIASGLAHLHIEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYKRVDIWAFGLVLWEVARRMVSNGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQNPSARLTALRIKKTLTKIDNSLDKLKTDC
uniprot
proteins
disease_involvement
DISEASE: Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]: A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible. {ECO:0000269|PubMed:16642017, ECO:0000269|PubMed:19085907, ECO:0000269|PubMed:19330033}. 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: Bone morphogenetic protein (BMP) type I receptor that is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation (PubMed:20628059, PubMed:22977237). As a type I receptor, forms heterotetrameric receptor complexes with the type II receptors AMHR2, ACVR2A or ACVR2B (PubMed:17911401). Upon binding of ligands such as BMP7 or GDF2/BMP9 to the heteromeric complexes, type II receptors transphosphorylate ACVR1 intracellular domain (PubMed:25354296). In turn, ACVR1 kinase domain is activated and subsequently phosphorylates SMAD1/5/8 proteins that transduce the signal (PubMed:9748228). In addition to its role in mediating BMP pathway-specific signaling, suppresses TGFbeta/activin pathway signaling by interfering with the binding of activin to its type II receptor (PubMed:17911401). Besides canonical SMAD signaling, can activate non-canonical pathways such as p38 mitogen-activated protein kinases/MAPKs (By similarity). May promote the expression of HAMP, potentially via its interaction with BMP6 (By similarity). {ECO:0000250|UniProtKB:P15261, ECO:0000250|UniProtKB:P37172, ECO:0000269|PubMed:17911401, ECO:0000269|PubMed:20628059, ECO:0000269|PubMed:22977237, ECO:0000269|PubMed:25354296, ECO:0000269|PubMed:9748228}.
uniprot
proteins
mass_dalton
57153
uniprot
proteins
mutagenesis
MUTAGEN 203; /note="T->V: Almost complete loss of alcaline phosphatase induction; in association with A-325."; /evidence="ECO:0000269|PubMed:25354296"; MUTAGEN 207; /note="Q->D: Strong induction of SMAD1 phosphorylation."; /evidence="ECO:0000269|PubMed:9748228"; MUTAGEN 325; /note="G->A: Almost complete loss of alcaline phosphatase induction; in association with V-203."; /evidence="ECO:0000269|PubMed:25354296
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
15489334
uniprot
proteins
pubmed
16642017
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
17911401
uniprot
proteins
pubmed
18070108
uniprot
proteins
pubmed
19085907
uniprot
proteins
pubmed
19330033
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
20628059
uniprot
proteins
pubmed
21791611
uniprot
proteins
pubmed
22484487
uniprot
proteins
pubmed
22977237
uniprot
proteins
pubmed
25354296
uniprot
proteins
pubmed
31800957
uniprot
proteins
pubmed
8389764
uniprot
proteins
pubmed
8397373
uniprot
proteins
pubmed
8555189
uniprot
proteins
pubmed
9748228
uniprot
proteins
sequence_length
509
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 124..146; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins