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UniProtKB - P37023 (ACVL1_HUMAN)
Protein
Serine/threonine-protein kinase receptor R3
Gene
ACVRL1
Organism
Homo sapiens (Human)
Status
Functioni
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.
3 PublicationsCatalytic activityi
Cofactori
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 229 | ATPPROSITE-ProRule annotation | 1 | |
Active sitei | 330 | Proton acceptorPROSITE-ProRule annotation | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 208 – 216 | ATPPROSITE-ProRule annotation | 9 |
GO - Molecular functioni
- activin binding Source: UniProtKB
- activin receptor activity, type I Source: MGI
- ATP binding Source: HGNC-UCL
- BMP receptor activity Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
- protein kinase binding Source: BHF-UCL
- protein serine/threonine kinase activity Source: HGNC-UCL
- SMAD binding Source: HGNC-UCL
- transforming growth factor beta-activated receptor activity Source: MGI
- transforming growth factor beta binding Source: UniProtKB
- transforming growth factor beta receptor activity, type I Source: UniProtKB
- transmembrane receptor protein serine/threonine kinase activity Source: UniProtKB
GO - Biological processi
- angiogenesis Source: HGNC-UCL
- artery development Source: BHF-UCL
- blood circulation Source: HGNC-UCL
- blood vessel endothelial cell proliferation involved in sprouting angiogenesis Source: DFLAT
- blood vessel maturation Source: DFLAT
- blood vessel remodeling Source: BHF-UCL
- BMP signaling pathway Source: BHF-UCL
- cellular response to BMP stimulus Source: BHF-UCL
- cellular response to growth factor stimulus Source: GO_Central
- cellular response to transforming growth factor beta stimulus Source: BHF-UCL
- dorsal/ventral pattern formation Source: GO_Central
- dorsal aorta morphogenesis Source: BHF-UCL
- endocardial cushion morphogenesis Source: BHF-UCL
- endothelial tube morphogenesis Source: BHF-UCL
- heart development Source: GO_Central
- in utero embryonic development Source: Ensembl
- lymphangiogenesis Source: BHF-UCL
- lymphatic endothelial cell differentiation Source: BHF-UCL
- negative regulation of blood vessel endothelial cell migration Source: BHF-UCL
- negative regulation of cell adhesion Source: HGNC-UCL
- negative regulation of cell growth Source: BHF-UCL
- negative regulation of cell migration Source: HGNC-UCL
- negative regulation of cell population proliferation Source: HGNC-UCL
- negative regulation of DNA biosynthetic process Source: BHF-UCL
- negative regulation of endothelial cell differentiation Source: Ensembl
- negative regulation of endothelial cell migration Source: BHF-UCL
- negative regulation of endothelial cell proliferation Source: Ensembl
- negative regulation of focal adhesion assembly Source: HGNC-UCL
- negative regulation of gene expression Source: BHF-UCL
- positive regulation of angiogenesis Source: Ensembl
- positive regulation of BMP signaling pathway Source: BHF-UCL
- positive regulation of chondrocyte differentiation Source: BHF-UCL
- positive regulation of endothelial cell differentiation Source: Ensembl
- positive regulation of endothelial cell proliferation Source: Ensembl
- positive regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
- positive regulation of transcription, DNA-templated Source: HGNC-UCL
- positive regulation of transcription by RNA polymerase II Source: BHF-UCL
- protein phosphorylation Source: HGNC-UCL
- regulation of blood pressure Source: HGNC-UCL
- regulation of blood vessel endothelial cell migration Source: DFLAT
- regulation of DNA replication Source: DFLAT
- regulation of endothelial cell proliferation Source: DFLAT
- regulation of transcription, DNA-templated Source: HGNC-UCL
- response to hypoxia Source: Ensembl
- retina vasculature development in camera-type eye Source: BHF-UCL
- signal transduction Source: HGNC-UCL
- transforming growth factor beta receptor signaling pathway Source: HGNC-UCL
- venous blood vessel development Source: BHF-UCL
- wound healing, spreading of epidermal cells Source: HGNC-UCL
Keywordsi
Molecular function | Kinase, Receptor, Serine/threonine-protein kinase, Transferase |
Biological process | Angiogenesis |
Ligand | ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 2.7.10.2, 2681 2.7.11.30, 2681 |
PathwayCommonsi | P37023 |
Reactomei | R-HSA-201451, Signaling by BMP |
SignaLinki | P37023 |
SIGNORi | P37023 |
Names & Taxonomyi
Protein namesi | Recommended name: Serine/threonine-protein kinase receptor R3 (EC:2.7.11.30)Short name: SKR3 Alternative name(s): Activin receptor-like kinase 1 Short name: ALK-1 TGF-B superfamily receptor type I Short name: TSR-I |
Gene namesi | Name:ACVRL1 Synonyms:ACVRLK1, ALK1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:175, ACVRL1 |
MIMi | 601284, gene |
neXtProti | NX_P37023 |
VEuPathDBi | HostDB:ENSG00000139567 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Single-pass type I membrane protein Sequence analysis
Plasma Membrane
- BMP receptor complex Source: GO_Central
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: UniProtKB
Other locations
- cell surface Source: MGI
- dendrite Source: Ensembl
- neuronal cell body Source: Ensembl
- receptor complex Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 22 – 118 | ExtracellularSequence analysisAdd BLAST | 97 | |
Transmembranei | 119 – 141 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 142 – 503 | CytoplasmicSequence analysisAdd BLAST | 362 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Telangiectasia, hereditary hemorrhagic, 2 (HHT2)13 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070309 | 34 | C → Y in HHT2. 1 Publication | 1 | |
Natural variantiVAR_075231 | 41 | C → G in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_075232 | 41 | C → Y in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1184716348EnsemblClinVar. | 1 | |
Natural variantiVAR_075233 | 46 | C → G in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_075234 | 47 | R → P in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs774389618EnsemblClinVar. | 1 | |
Natural variantiVAR_026784 | 48 – 49 | GA → EP in HHT2. Corresponds to variant dbSNP:rs387906392Ensembl. | 2 | |
Natural variantiVAR_026785 | 48 | G → R in HHT2. 1 Publication | 1 | |
Natural variantiVAR_006204 | 50 | W → C in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs121909285EnsemblClinVar. | 1 | |
Natural variantiVAR_070311 | 50 | W → G in HHT2. 1 Publication | 1 | |
Natural variantiVAR_006205 | 51 | C → Y in HHT2. 1 PublicationCorresponds to variant dbSNP:rs863223409EnsemblClinVar. | 1 | |
Natural variantiVAR_070312 | 52 | T → A in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1131691346EnsemblClinVar. | 1 | |
Natural variantiVAR_070313 | 66 | H → P in HHT2. 1 Publication | 1 | |
Natural variantiVAR_075235 | 66 | H → Y in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1480110873Ensembl. | 1 | |
Natural variantiVAR_006206 | 67 | R → Q in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs863223414EnsemblClinVar. | 1 | |
Natural variantiVAR_026786 | 67 | R → W in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307405EnsemblClinVar. | 1 | |
Natural variantiVAR_070314 | 69 | C → R in HHT2. 1 Publication | 1 | |
Natural variantiVAR_075236 | 77 | C → F in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1330837892Ensembl. | 1 | |
Natural variantiVAR_006207 | 77 | C → W in HHT2; retained in the endoplasmic reticulum. 2 Publications | 1 | |
Natural variantiVAR_006208 | 96 | N → D in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070315 | 96 | N → S in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070317 | 176 | D → Y in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026787 | 179 | D → A in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 PublicationCorresponds to variant dbSNP:rs753792569EnsemblClinVar. | 1 | |
Natural variantiVAR_070318 | 197 | T → I in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026788 | 211 | G → D in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs28936687EnsemblClinVar. | 1 | |
Natural variantiVAR_075238 | 211 | G → S in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_026789 | 215 | E → K in HHT2. 1 PublicationCorresponds to variant dbSNP:rs754283265Ensembl. | 1 | |
Natural variantiVAR_070319 | 217 | W → G in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070320 | 219 | G → D in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026790 | 223 | G → R in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070321 | 226 | V → E in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1565593639EnsemblClinVar. | 1 | |
Natural variantiVAR_026791 | 229 | K → R in HHT2. 1 Publication | 1 | |
Natural variantiVAR_006209 | 232 | Missing in HHT2; mutant protein is capable of targeting the cell surface appropriately. 3 Publications | 1 | |
Natural variantiVAR_070322 | 233 | S → L in HHT2. 1 PublicationCorresponds to variant dbSNP:rs762773076EnsemblClinVar. | 1 | |
Natural variantiVAR_026792 | 233 | Missing in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070323 | 237 | Q → K in HHT2. 1 Publication | 1 | |
Natural variantiVAR_075239 | 245 | I → V in HHT2; no loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately; affects splicing by inducing the creation of a new donor splice site and the loss of the 3' end of exon 6. 1 Publication | 1 | |
Natural variantiVAR_026793 | 254 | Missing in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs387906393Ensembl. | 1 | |
Natural variantiVAR_070324 | 260 | I → L in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070325 | 265 | T → P in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1592223978Ensembl. | 1 | |
Natural variantiVAR_070327 | 280 | H → R in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026794 | 285 | L → F in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307410EnsemblClinVar. | 1 | |
Natural variantiVAR_070328 | 289 | L → P in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070329 | 294 | L → R in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026795 | 306 | A → P in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications | 1 | |
Natural variantiVAR_075240 | 313 | L → V in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_026796 | 314 | H → Y in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs1565594311EnsemblClinVar. | 1 | |
Natural variantiVAR_070330 | 328 | H → Q in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1565594410EnsemblClinVar. | 1 | |
Natural variantiVAR_006210 | 333 | S → I in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs863223413EnsemblClinVar. | 1 | |
Natural variantiVAR_070331 | 335 | N → H in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026797 | 337 | L → P in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1592224349EnsemblClinVar. | 1 | |
Natural variantiVAR_070333 | 344 | C → R in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1592224412EnsemblClinVar. | 1 | |
Natural variantiVAR_026798 | 344 | C → Y in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs28936688EnsemblClinVar. | 1 | |
Natural variantiVAR_070334 | 347 | A → D in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026799 | 347 | A → P in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026800 | 374 | R → Q in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs1060503248EnsemblClinVar. | 1 | |
Natural variantiVAR_006211 | 374 | R → W in HHT2. 4 PublicationsCorresponds to variant dbSNP:rs28936401EnsemblClinVar. | 1 | |
Natural variantiVAR_006212 | 376 | M → R in HHT2. 1 PublicationCorresponds to variant dbSNP:rs28936399EnsemblClinVar. | 1 | |
Natural variantiVAR_026801 | 376 | M → V in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1555153277EnsemblClinVar. | 1 | |
Natural variantiVAR_026802 | 378 | P → L in HHT2; retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_070335 | 378 | P → S in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs959973779EnsemblClinVar. | 1 | |
Natural variantiVAR_075241 | 379 | E → D in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_026803 | 379 | E → K in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs1131691686EnsemblClinVar. | 1 | |
Natural variantiVAR_026804 | 397 | D → G in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026805 | 398 | I → N in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909286EnsemblClinVar. | 1 | |
Natural variantiVAR_026806 | 399 | W → S in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909289EnsemblClinVar. | 1 | |
Natural variantiVAR_070337 | 403 | L → P in HHT2. 1 Publication | 1 | |
Natural variantiVAR_075242 | 404 | V → G in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_026807 | 407 | E → D in HHT2. 2 PublicationsCorresponds to variant dbSNP:rs1565595129EnsemblClinVar. | 1 | |
Natural variantiVAR_026808 | 411 | R → P in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909284EnsemblClinVar. | 1 | |
Natural variantiVAR_006213 | 411 | R → Q in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs121909284EnsemblClinVar. | 1 | |
Natural variantiVAR_026809 | 411 | R → W in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 4 PublicationsCorresponds to variant dbSNP:rs121909287EnsemblClinVar. | 1 | |
Natural variantiVAR_070338 | 416 | G → S in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070339 | 424 | P → R in HHT2. 1 Publication | 1 | |
Natural variantiVAR_006214 | 424 | P → T in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307419EnsemblClinVar. | 1 | |
Natural variantiVAR_026810 | 425 | F → L in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026811 | 425 | F → V in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026812 | 425 | Missing in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070340 | 426 | Y → C in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070341 | 433 | P → R in HHT2. 1 Publication | 1 | |
Natural variantiVAR_075244 | 441 | V → M in HHT2; retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1565596498EnsemblClinVar. | 1 | |
Natural variantiVAR_075245 | 443 | C → Y in HHT2; retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_070342 | 449 | P → S in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026813 | 479 | R → L in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070343 | 479 | R → P in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307426EnsemblClinVar. | 1 | |
Natural variantiVAR_026814 | 482 | A → V in HHT2. 1 PublicationCorresponds to variant dbSNP:rs139142865EnsemblClinVar. | 1 | |
Natural variantiVAR_026815 | 484 | R → W in HHT2. 2 PublicationsCorresponds to variant dbSNP:rs121909288EnsemblClinVar. | 1 | |
Natural variantiVAR_026816 | 487 | K → T in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 PublicationCorresponds to variant dbSNP:rs1085307428EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 74 – 76 | REL → DFQ: Affinity for BMP9 decreased by 200-fold. 1 Publication | 3 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 94 |
GeneReviewsi | ACVRL1 |
MalaCardsi | ACVRL1 |
MIMi | 600376, phenotype |
OpenTargetsi | ENSG00000139567 |
Orphaneti | 774, Hereditary hemorrhagic telangiectasia 275777, Heritable pulmonary arterial hypertension |
PharmGKBi | PA24496 |
Miscellaneous databases
Pharosi | P37023, Tchem |
Chemistry databases
ChEMBLi | CHEMBL5311 |
DrugBanki | DB00171, ATP |
DrugCentrali | P37023 |
GuidetoPHARMACOLOGYi | 1784 |
Genetic variation databases
BioMutai | ACVRL1 |
DMDMi | 3915750 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | Sequence analysisAdd BLAST | 21 | |
ChainiPRO_0000024420 | 22 – 503 | Serine/threonine-protein kinase receptor R3Add BLAST | 482 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 34 ↔ 51 | Combined sources2 Publications | ||
Disulfide bondi | 36 ↔ 41 | Combined sources2 Publications | ||
Disulfide bondi | 46 ↔ 69 | Combined sources2 Publications | ||
Disulfide bondi | 77 ↔ 89 | Combined sources2 Publications | ||
Disulfide bondi | 90 ↔ 95 | Combined sources2 Publications | ||
Glycosylationi | 98 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 155 | PhosphoserineBy similarity | 1 | |
Modified residuei | 160 | PhosphoserineBy similarity | 1 | |
Modified residuei | 161 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
EPDi | P37023 |
jPOSTi | P37023 |
MassIVEi | P37023 |
PaxDbi | P37023 |
PeptideAtlasi | P37023 |
PRIDEi | P37023 |
ProteomicsDBi | 55254 |
PTM databases
GlyGeni | P37023, 1 site |
iPTMneti | P37023 |
PhosphoSitePlusi | P37023 |
Expressioni
Gene expression databases
Bgeei | ENSG00000139567, Expressed in tendon of biceps brachii and 197 other tissues |
ExpressionAtlasi | P37023, baseline and differential |
Genevisiblei | P37023, HS |
Organism-specific databases
HPAi | ENSG00000139567, Tissue enhanced (lung) |
Interactioni
Binary interactionsi
P37023
With | #Exp. | IntAct |
---|---|---|
Growth/differentiation factor 2 (PRO_0000033903) | 2 | EBI-8043559,EBI-16227344 |
LRG1 [P02750] | 3 | EBI-8043559,EBI-9083443 |
GO - Molecular functioni
- protein kinase binding Source: BHF-UCL
- SMAD binding Source: HGNC-UCL
- transforming growth factor beta binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 106609, 23 interactors |
DIPi | DIP-5938N |
IntActi | P37023, 8 interactors |
MINTi | P37023 |
STRINGi | 9606.ENSP00000373574 |
Chemistry databases
BindingDBi | P37023 |
Miscellaneous databases
RNActi | P37023, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | P37023 |
SMRi | P37023 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 172 – 201 | GSPROSITE-ProRule annotationAdd BLAST | 30 | |
Domaini | 202 – 492 | Protein kinasePROSITE-ProRule annotationAdd BLAST | 291 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 73 – 76 | Mediates specificity for BMP ligand | 4 |
Sequence similaritiesi
Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.Curated
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2052, Eukaryota |
GeneTreei | ENSGT00940000161446 |
HOGENOMi | CLU_000288_8_1_1 |
InParanoidi | P37023 |
OMAi | GFFVQCC |
OrthoDBi | 776697at2759 |
PhylomeDBi | P37023 |
TreeFami | TF314724 |
Family and domain databases
Gene3Di | 2.10.60.10, 1 hit |
InterProi | View protein in InterPro IPR003605, GS_dom IPR011009, Kinase-like_dom_sf IPR000719, Prot_kinase_dom IPR017441, Protein_kinase_ATP_BS IPR001245, Ser-Thr/Tyr_kinase_cat_dom IPR008271, Ser/Thr_kinase_AS IPR045860, Snake_toxin-like_sf IPR000333, TGFB_receptor |
PANTHERi | PTHR23255, PTHR23255, 1 hit |
Pfami | View protein in Pfam PF07714, PK_Tyr_Ser-Thr, 1 hit PF08515, TGF_beta_GS, 1 hit |
PRINTSi | PR00653, ACTIVIN2R |
SMARTi | View protein in SMART SM00467, GS, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit SSF57302, SSF57302, 1 hit |
PROSITEi | View protein in PROSITE PS51256, GS, 1 hit PS00107, PROTEIN_KINASE_ATP, 1 hit PS50011, PROTEIN_KINASE_DOM, 1 hit PS00108, PROTEIN_KINASE_ST, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All
P37023-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH CKGPTCRGAW
60 70 80 90 100
CTVVLVREEG RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS
110 120 130 140 150
LVLEATQPPS EQPGTDGQLA LILGPVLALL ALVALGVLGL WHVRRRQEKQ
160 170 180 190 200
RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR
210 220 230 240 250
QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL
260 270 280 290 300
LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL
310 320 330 340 350
RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG
360 370 380 390 400
LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA
410 420 430 440 450
FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT
460 470 480 490 500
IPNRLAADPV LSGLAQMMRE CWYPNPSARL TALRIKKTLQ KISNSPEKPK
VIQ
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketG3V1W8 | G3V1W8_HUMAN | Serine/threonine-protein kinase rec... | ACVRL1 hCG_37967 | 517 | Annotation score: | ||
E7EN07 | E7EN07_HUMAN | Receptor protein serine/threonine k... | ACVRL1 | 329 | Annotation score: | ||
H3BTZ2 | H3BTZ2_HUMAN | Receptor protein serine/threonine k... | ACVRL1 | 163 | Annotation score: | ||
F8W0N2 | F8W0N2_HUMAN | Serine/threonine-protein kinase rec... | ACVRL1 | 159 | Annotation score: | ||
D9IPD9 | D9IPD9_HUMAN | Activin A receptor type II-like kin... | ACVRL1 | 89 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 172 | S → T in CAA80255 (PubMed:8397373).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079583 | 8 | K → N1 Publication | 1 | |
Natural variantiVAR_070308 | 30 | P → S Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149664056EnsemblClinVar. | 1 | |
Natural variantiVAR_070309 | 34 | C → Y in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070310 | 38 | S → C1 Publication | 1 | |
Natural variantiVAR_075231 | 41 | C → G in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_075232 | 41 | C → Y in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1184716348EnsemblClinVar. | 1 | |
Natural variantiVAR_075233 | 46 | C → G in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_075234 | 47 | R → P in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs774389618EnsemblClinVar. | 1 | |
Natural variantiVAR_026784 | 48 – 49 | GA → EP in HHT2. Corresponds to variant dbSNP:rs387906392Ensembl. | 2 | |
Natural variantiVAR_026785 | 48 | G → R in HHT2. 1 Publication | 1 | |
Natural variantiVAR_006204 | 50 | W → C in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs121909285EnsemblClinVar. | 1 | |
Natural variantiVAR_070311 | 50 | W → G in HHT2. 1 Publication | 1 | |
Natural variantiVAR_006205 | 51 | C → Y in HHT2. 1 PublicationCorresponds to variant dbSNP:rs863223409EnsemblClinVar. | 1 | |
Natural variantiVAR_070312 | 52 | T → A in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1131691346EnsemblClinVar. | 1 | |
Natural variantiVAR_079584 | 59 | E → V Found in a patient with pulmonary arterial hypertension; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1466116430Ensembl. | 1 | |
Natural variantiVAR_070313 | 66 | H → P in HHT2. 1 Publication | 1 | |
Natural variantiVAR_075235 | 66 | H → Y in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1480110873Ensembl. | 1 | |
Natural variantiVAR_006206 | 67 | R → Q in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs863223414EnsemblClinVar. | 1 | |
Natural variantiVAR_026786 | 67 | R → W in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307405EnsemblClinVar. | 1 | |
Natural variantiVAR_070314 | 69 | C → R in HHT2. 1 Publication | 1 | |
Natural variantiVAR_075236 | 77 | C → F in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1330837892Ensembl. | 1 | |
Natural variantiVAR_006207 | 77 | C → W in HHT2; retained in the endoplasmic reticulum. 2 Publications | 1 | |
Natural variantiVAR_006208 | 96 | N → D in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070315 | 96 | N → S in HHT2. 1 Publication | 1 | |
Natural variantiVAR_075237 | 111 | E → D No loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately. 1 PublicationCorresponds to variant dbSNP:rs1481094868Ensembl. | 1 | |
Natural variantiVAR_070316 | 138 | L → P1 Publication | 1 | |
Natural variantiVAR_079585 | 159 | E → V Found in a patient with pulmonary arterial hypertension; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_070317 | 176 | D → Y in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026787 | 179 | D → A in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 PublicationCorresponds to variant dbSNP:rs753792569EnsemblClinVar. | 1 | |
Natural variantiVAR_070318 | 197 | T → I in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026788 | 211 | G → D in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs28936687EnsemblClinVar. | 1 | |
Natural variantiVAR_075238 | 211 | G → S in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_026789 | 215 | E → K in HHT2. 1 PublicationCorresponds to variant dbSNP:rs754283265Ensembl. | 1 | |
Natural variantiVAR_070319 | 217 | W → G in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070320 | 219 | G → D in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026790 | 223 | G → R in HHT2. 1 Publication | 1 | |
Natural variantiVAR_079586 | 225 | S → C Found in a patient with pulmonary arterial hypertension; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_070321 | 226 | V → E in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1565593639EnsemblClinVar. | 1 | |
Natural variantiVAR_026791 | 229 | K → R in HHT2. 1 Publication | 1 | |
Natural variantiVAR_006209 | 232 | Missing in HHT2; mutant protein is capable of targeting the cell surface appropriately. 3 Publications | 1 | |
Natural variantiVAR_070322 | 233 | S → L in HHT2. 1 PublicationCorresponds to variant dbSNP:rs762773076EnsemblClinVar. | 1 | |
Natural variantiVAR_026792 | 233 | Missing in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070323 | 237 | Q → K in HHT2. 1 Publication | 1 | |
Natural variantiVAR_011717 | 245 | I → N. Corresponds to variant dbSNP:rs1804508Ensembl. | 1 | |
Natural variantiVAR_075239 | 245 | I → V in HHT2; no loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately; affects splicing by inducing the creation of a new donor splice site and the loss of the 3' end of exon 6. 1 Publication | 1 | |
Natural variantiVAR_026793 | 254 | Missing in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs387906393Ensembl. | 1 | |
Natural variantiVAR_070324 | 260 | I → L in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070325 | 265 | T → P in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1592223978Ensembl. | 1 | |
Natural variantiVAR_070326 | 277 | T → K Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_070327 | 280 | H → R in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026794 | 285 | L → F in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307410EnsemblClinVar. | 1 | |
Natural variantiVAR_070328 | 289 | L → P in HHT2. 1 Publication | 1 | |
Natural variantiVAR_070329 | 294 | L → R in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026795 | 306 | A → P in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications | 1 | |
Natural variantiVAR_075240 | 313 | L → V in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_026796 | 314 | H → Y in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs1565594311EnsemblClinVar. | 1 | |
Natural variantiVAR_070330 | 328 | H → Q in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1565594410EnsemblClinVar. | 1 | |
Natural variantiVAR_006210 | 333 | S → I in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs863223413EnsemblClinVar. | 1 | |
Natural variantiVAR_070331 | 335 | N → H in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026797 | 337 | L → P in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1592224349EnsemblClinVar. | 1 | |
Natural variantiVAR_070332 | 342 | L → P1 PublicationCorresponds to variant dbSNP:rs762287966EnsemblClinVar. | 1 | |
Natural variantiVAR_070333 | 344 | C → R in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1592224412EnsemblClinVar. | 1 | |
Natural variantiVAR_026798 | 344 | C → Y in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs28936688EnsemblClinVar. | 1 | |
Natural variantiVAR_070334 | 347 | A → D in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026799 | 347 | A → P in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026800 | 374 | R → Q in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs1060503248EnsemblClinVar. | 1 | |
Natural variantiVAR_006211 | 374 | R → W in HHT2. 4 PublicationsCorresponds to variant dbSNP:rs28936401EnsemblClinVar. | 1 | |
Natural variantiVAR_006212 | 376 | M → R in HHT2. 1 PublicationCorresponds to variant dbSNP:rs28936399EnsemblClinVar. | 1 | |
Natural variantiVAR_026801 | 376 | M → V in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1555153277EnsemblClinVar. | 1 | |
Natural variantiVAR_026802 | 378 | P → L in HHT2; retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_070335 | 378 | P → S in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs959973779EnsemblClinVar. | 1 | |
Natural variantiVAR_075241 | 379 | E → D in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_026803 | 379 | E → K in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs1131691686EnsemblClinVar. | 1 | |
Natural variantiVAR_079587 | 396 | T → A Found in patients with pulmonary arterial hypertension; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_026804 | 397 | D → G in HHT2. 1 Publication | 1 | |
Natural variantiVAR_026805 | 398 | I → N in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909286EnsemblClinVar. | 1 | |
Natural variantiVAR_026806 | 399 | W → S in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909289EnsemblClinVar. | 1 | |
Natural variantiVAR_070336 | 400 | A → T Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_070337 | 403 | L → P in HHT2. 1 Publication | 1 | |
Natural variantiVAR_075242 | 404 | V → G in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication | 1 | |
Natural variantiVAR_026807 | 407 | E → D in HHT2. 2 PublicationsCorresponds to variant dbSNP:rs1565595129EnsemblClinVar. | 1 | |
Natural variantiVAR_026808 | 411 | R → P in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909284EnsemblClinVar. | 1 | |
Natural variantiVAR_006213 | 411 | R → Q in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs121909284EnsemblClinVar. | 1 | |
Natural variantiVAR_026809 | 411 | R → W in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 4 Publications |