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UniProtKB - P37023 (ACVL1_HUMAN)

Entry version 222 (10 Feb 2021)
Sequence version 2 (15 Dec 1998)
Previous versions | rss
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Protein

Serine/threonine-protein kinase receptor R3

Gene

ACVRL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+By similarity, Mn2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei229ATPPROSITE-ProRule annotation1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei330Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi208 – 216ATPPROSITE-ProRule annotation9

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionKinase, Receptor, Serine/threonine-protein kinase, Transferase
Biological processAngiogenesis
LigandATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.7.10.2, 2681
2.7.11.30, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P37023

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-201451, Signaling by BMP

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P37023

SIGNOR Signaling Network Open Resource

More...SIGNORi		P37023

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ACVRL1
Synonyms:ACVRLK1, ALK1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:175, ACVRL1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601284, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P37023

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000139567.12

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini22 – 118ExtracellularSequence analysisAdd BLAST97
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei119 – 141HelicalSequence analysisAdd BLAST23
Topological domaini142 – 503CytoplasmicSequence analysisAdd BLAST362

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07030934C → Y in HHT2. 1 Publication1
Natural variantiVAR_07523141C → G in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_07523241C → Y in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1184716348Ensembl.1
Natural variantiVAR_07523346C → G in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_07523447R → 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_02678448 – 49GA → EP in HHT2. Corresponds to variant dbSNP:rs387906392Ensembl.2
Natural variantiVAR_02678548G → R in HHT2. 1 Publication1
Natural variantiVAR_00620450W → C in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs121909285EnsemblClinVar.1
Natural variantiVAR_07031150W → G in HHT2. 1 Publication1
Natural variantiVAR_00620551C → Y in HHT2. 1 PublicationCorresponds to variant dbSNP:rs863223409EnsemblClinVar.1
Natural variantiVAR_07031252T → A in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1131691346EnsemblClinVar.1
Natural variantiVAR_07031366H → P in HHT2. 1 Publication1
Natural variantiVAR_07523566H → 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_00620667R → Q in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs863223414EnsemblClinVar.1
Natural variantiVAR_02678667R → W in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307405EnsemblClinVar.1
Natural variantiVAR_07031469C → R in HHT2. 1 Publication1
Natural variantiVAR_07523677C → 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_00620777C → W in HHT2; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_00620896N → D in HHT2. 1 Publication1
Natural variantiVAR_07031596N → S in HHT2. 1 Publication1
Natural variantiVAR_070317176D → Y in HHT2. 1 Publication1
Natural variantiVAR_026787179D → A in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 PublicationCorresponds to variant dbSNP:rs753792569EnsemblClinVar.1
Natural variantiVAR_070318197T → I in HHT2. 1 Publication1
Natural variantiVAR_026788211G → 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_075238211G → S in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026789215E → K in HHT2. 1 PublicationCorresponds to variant dbSNP:rs754283265Ensembl.1
Natural variantiVAR_070319217W → G in HHT2. 1 Publication1
Natural variantiVAR_070320219G → D in HHT2. 1 Publication1
Natural variantiVAR_026790223G → R in HHT2. 1 Publication1
Natural variantiVAR_070321226V → E in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1565593639Ensembl.1
Natural variantiVAR_026791229K → R in HHT2. 1 Publication1
Natural variantiVAR_006209232Missing in HHT2; mutant protein is capable of targeting the cell surface appropriately. 3 Publications1
Natural variantiVAR_070322233S → L in HHT2. 1 PublicationCorresponds to variant dbSNP:rs762773076Ensembl.1
Natural variantiVAR_026792233Missing in HHT2. 1 Publication1
Natural variantiVAR_070323237Q → K in HHT2. 1 Publication1
Natural variantiVAR_075239245I → 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 Publication1
Natural variantiVAR_026793254Missing in HHT2; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_070324260I → L in HHT2. 1 Publication1
Natural variantiVAR_070325265T → P in HHT2. 1 Publication1
Natural variantiVAR_070327280H → R in HHT2. 1 Publication1
Natural variantiVAR_026794285L → F in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307410EnsemblClinVar.1
Natural variantiVAR_070328289L → P in HHT2. 1 Publication1
Natural variantiVAR_070329294L → R in HHT2. 1 Publication1
Natural variantiVAR_026795306A → P in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_075240313L → V in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026796314H → 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_070330328H → Q in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1565594410EnsemblClinVar.1
Natural variantiVAR_006210333S → I in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs863223413Ensembl.1
Natural variantiVAR_070331335N → H in HHT2. 1 Publication1
Natural variantiVAR_026797337L → P in HHT2. 1 Publication1
Natural variantiVAR_070333344C → R in HHT2. 1 Publication1
Natural variantiVAR_026798344C → Y in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs28936688EnsemblClinVar.1
Natural variantiVAR_070334347A → D in HHT2. 1 Publication1
Natural variantiVAR_026799347A → P in HHT2. 1 Publication1
Natural variantiVAR_026800374R → Q in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs1060503248EnsemblClinVar.1
Natural variantiVAR_006211374R → W in HHT2. 4 PublicationsCorresponds to variant dbSNP:rs28936401EnsemblClinVar.1
Natural variantiVAR_006212376M → R in HHT2. 1 PublicationCorresponds to variant dbSNP:rs28936399EnsemblClinVar.1
Natural variantiVAR_026801376M → V in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1555153277EnsemblClinVar.1
Natural variantiVAR_026802378P → L in HHT2; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_070335378P → 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_075241379E → D in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026803379E → 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_026804397D → G in HHT2. 1 Publication1
Natural variantiVAR_026805398I → N in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909286EnsemblClinVar.1
Natural variantiVAR_026806399W → S in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909289EnsemblClinVar.1
Natural variantiVAR_070337403L → P in HHT2. 1 Publication1
Natural variantiVAR_075242404V → G in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026807407E → D in HHT2. 2 PublicationsCorresponds to variant dbSNP:rs1565595129EnsemblClinVar.1
Natural variantiVAR_026808411R → P in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909284EnsemblClinVar.1
Natural variantiVAR_006213411R → Q in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs121909284EnsemblClinVar.1
Natural variantiVAR_026809411R → 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_070338416G → S in HHT2. 1 Publication1
Natural variantiVAR_070339424P → R in HHT2. 1 Publication1
Natural variantiVAR_006214424P → T in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307419EnsemblClinVar.1
Natural variantiVAR_026810425F → L in HHT2. 1 Publication1
Natural variantiVAR_026811425F → V in HHT2. 1 Publication1
Natural variantiVAR_026812425Missing in HHT2. 1 Publication1
Natural variantiVAR_070340426Y → C in HHT2. 1 Publication1
Natural variantiVAR_070341433P → R in HHT2. 1 Publication1
Natural variantiVAR_075244441V → M in HHT2; retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1565596498Ensembl.1
Natural variantiVAR_075245443C → Y in HHT2; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_070342449P → S in HHT2. 1 Publication1
Natural variantiVAR_026813479R → L in HHT2. 1 Publication1
Natural variantiVAR_070343479R → P in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307426EnsemblClinVar.1
Natural variantiVAR_026814482A → V in HHT2. 1 PublicationCorresponds to variant dbSNP:rs139142865EnsemblClinVar.1
Natural variantiVAR_026815484R → W in HHT2. 2 PublicationsCorresponds to variant dbSNP:rs121909288EnsemblClinVar.1
Natural variantiVAR_026816487K → T in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 PublicationCorresponds to variant dbSNP:rs1085307428EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi74 – 76REL → DFQ: Affinity for BMP9 decreased by 200-fold. 1 Publication3

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		94

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ACVRL1

MalaCards human disease database

More...MalaCardsi		ACVRL1
MIMi600376, phenotype

Open Targets

More...OpenTargetsi		ENSG00000139567

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		774, Hereditary hemorrhagic telangiectasia
275777, Heritable pulmonary arterial hypertension

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24496

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P37023, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5311

Drug and drug target database

More...DrugBanki		DB00171, ATP

DrugCentral

More...DrugCentrali		P37023

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		1784

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ACVRL1

Domain mapping of disease mutations (DMDM)

More...DMDMi		3915750

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21Sequence analysisAdd BLAST21
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002442022 – 503Serine/threonine-protein kinase receptor R3Add BLAST482

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi34 ↔ 51Combined sources2 Publications
Disulfide bondi36 ↔ 41Combined sources2 Publications
Disulfide bondi46 ↔ 69Combined sources2 Publications
Disulfide bondi77 ↔ 89Combined sources2 Publications
Disulfide bondi90 ↔ 95Combined sources2 Publications
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi98N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei155PhosphoserineBy similarity1
Modified residuei160PhosphoserineBy similarity1
Modified residuei161PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P37023

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P37023

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P37023

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P37023

PeptideAtlas

More...PeptideAtlasi		P37023

PRoteomics IDEntifications database

More...PRIDEi		P37023

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55254

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P37023, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P37023

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P37023

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000139567, Expressed in tendon of biceps brachii and 197 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P37023, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P37023, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000139567, Tissue enhanced (lung)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		106609, 24 interactors

Database of interacting proteins

More...DIPi		DIP-5938N

Protein interaction database and analysis system

More...IntActi		P37023, 8 interactors

Molecular INTeraction database

More...MINTi		P37023

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000373574

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P37023

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P37023, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1503
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		P37023

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P37023

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini172 – 201GSPROSITE-ProRule annotationAdd BLAST30
Domaini202 – 492Protein kinasePROSITE-ProRule annotationAdd BLAST291

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni73 – 76Mediates specificity for BMP ligand4

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2052, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161446

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000288_8_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P37023

Database of Orthologous Groups

More...OrthoDBi		776697at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P37023

TreeFam database of animal gene trees

More...TreeFami		TF314724

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...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
IPR000333, TGFB_receptor

The PANTHER Classification System

More...PANTHERi		PTHR23255, PTHR23255, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07714, PK_Tyr_Ser-Thr, 1 hit
PF08515, TGF_beta_GS, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00653, ACTIVIN2R

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00467, GS, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF56112, SSF56112, 1 hit

PROSITE; a protein domain and family database

More...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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

P37023-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:503
Mass (Da):56,124
Last modified:December 15, 1998 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i074522AA802325DD
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V1W8G3V1W8_HUMAN
Serine/threonine-protein kinase rec...
ACVRL1 hCG_37967
517Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EN07E7EN07_HUMAN
Receptor protein serine/threonine k...
ACVRL1
329Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BTZ2H3BTZ2_HUMAN
Receptor protein serine/threonine k...
ACVRL1
163Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W0N2F8W0N2_HUMAN
Serine/threonine-protein kinase rec...
ACVRL1
159Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D9IPD9D9IPD9_HUMAN
Activin A receptor type II-like kin...
ACVRL1
89Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti172S → T in CAA80255 (PubMed:8397373).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0795838K → N1 Publication1
Natural variantiVAR_07030830P → S Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149664056EnsemblClinVar.1
Natural variantiVAR_07030934C → Y in HHT2. 1 Publication1
Natural variantiVAR_07031038S → C1 Publication1
Natural variantiVAR_07523141C → G in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_07523241C → Y in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs1184716348Ensembl.1
Natural variantiVAR_07523346C → G in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_07523447R → 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_02678448 – 49GA → EP in HHT2. Corresponds to variant dbSNP:rs387906392Ensembl.2
Natural variantiVAR_02678548G → R in HHT2. 1 Publication1
Natural variantiVAR_00620450W → C in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs121909285EnsemblClinVar.1
Natural variantiVAR_07031150W → G in HHT2. 1 Publication1
Natural variantiVAR_00620551C → Y in HHT2. 1 PublicationCorresponds to variant dbSNP:rs863223409EnsemblClinVar.1
Natural variantiVAR_07031252T → A in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1131691346EnsemblClinVar.1
Natural variantiVAR_07958459E → V Found in a patient with pulmonary arterial hypertension; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1466116430Ensembl.1
Natural variantiVAR_07031366H → P in HHT2. 1 Publication1
Natural variantiVAR_07523566H → 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_00620667R → Q in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs863223414EnsemblClinVar.1
Natural variantiVAR_02678667R → W in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307405EnsemblClinVar.1
Natural variantiVAR_07031469C → R in HHT2. 1 Publication1
Natural variantiVAR_07523677C → 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_00620777C → W in HHT2; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_00620896N → D in HHT2. 1 Publication1
Natural variantiVAR_07031596N → S in HHT2. 1 Publication1
Natural variantiVAR_075237111E → 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_070316138L → P1 Publication1
Natural variantiVAR_079585159E → V Found in a patient with pulmonary arterial hypertension; unknown pathological significance. 1 Publication1
Natural variantiVAR_070317176D → Y in HHT2. 1 Publication1
Natural variantiVAR_026787179D → A in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 PublicationCorresponds to variant dbSNP:rs753792569EnsemblClinVar.1
Natural variantiVAR_070318197T → I in HHT2. 1 Publication1
Natural variantiVAR_026788211G → 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_075238211G → S in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026789215E → K in HHT2. 1 PublicationCorresponds to variant dbSNP:rs754283265Ensembl.1
Natural variantiVAR_070319217W → G in HHT2. 1 Publication1
Natural variantiVAR_070320219G → D in HHT2. 1 Publication1
Natural variantiVAR_026790223G → R in HHT2. 1 Publication1
Natural variantiVAR_079586225S → C Found in a patient with pulmonary arterial hypertension; unknown pathological significance. 1 Publication1
Natural variantiVAR_070321226V → E in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1565593639Ensembl.1
Natural variantiVAR_026791229K → R in HHT2. 1 Publication1
Natural variantiVAR_006209232Missing in HHT2; mutant protein is capable of targeting the cell surface appropriately. 3 Publications1
Natural variantiVAR_070322233S → L in HHT2. 1 PublicationCorresponds to variant dbSNP:rs762773076Ensembl.1
Natural variantiVAR_026792233Missing in HHT2. 1 Publication1
Natural variantiVAR_070323237Q → K in HHT2. 1 Publication1
Natural variantiVAR_011717245I → N. Corresponds to variant dbSNP:rs1804508Ensembl.1
Natural variantiVAR_075239245I → 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 Publication1
Natural variantiVAR_026793254Missing in HHT2; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_070324260I → L in HHT2. 1 Publication1
Natural variantiVAR_070325265T → P in HHT2. 1 Publication1
Natural variantiVAR_070326277T → K Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication1
Natural variantiVAR_070327280H → R in HHT2. 1 Publication1
Natural variantiVAR_026794285L → F in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307410EnsemblClinVar.1
Natural variantiVAR_070328289L → P in HHT2. 1 Publication1
Natural variantiVAR_070329294L → R in HHT2. 1 Publication1
Natural variantiVAR_026795306A → P in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_075240313L → V in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026796314H → 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_070330328H → Q in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1565594410EnsemblClinVar.1
Natural variantiVAR_006210333S → I in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs863223413Ensembl.1
Natural variantiVAR_070331335N → H in HHT2. 1 Publication1
Natural variantiVAR_026797337L → P in HHT2. 1 Publication1
Natural variantiVAR_070332342L → P1 Publication1
Natural variantiVAR_070333344C → R in HHT2. 1 Publication1
Natural variantiVAR_026798344C → Y in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs28936688EnsemblClinVar.1
Natural variantiVAR_070334347A → D in HHT2. 1 Publication1
Natural variantiVAR_026799347A → P in HHT2. 1 Publication1
Natural variantiVAR_026800374R → Q in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs1060503248EnsemblClinVar.1
Natural variantiVAR_006211374R → W in HHT2. 4 PublicationsCorresponds to variant dbSNP:rs28936401EnsemblClinVar.1
Natural variantiVAR_006212376M → R in HHT2. 1 PublicationCorresponds to variant dbSNP:rs28936399EnsemblClinVar.1
Natural variantiVAR_026801376M → V in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1555153277EnsemblClinVar.1
Natural variantiVAR_026802378P → L in HHT2; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_070335378P → 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_075241379E → D in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026803379E → 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_079587396T → A Found in patients with pulmonary arterial hypertension; unknown pathological significance. 1 Publication1
Natural variantiVAR_026804397D → G in HHT2. 1 Publication1
Natural variantiVAR_026805398I → N in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909286EnsemblClinVar.1
Natural variantiVAR_026806