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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_section">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 ‘Function’ 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 ‘Function’ 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 ‘Function’ 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

  • activin binding Source: UniProtKB
  • activin receptor activity, type I Source: MGI
  • ATP binding Source: HGNC
  • BMP receptor activity Source: UniProtKB
  • growth factor binding Source: GO_Central
  • metal ion binding Source: UniProtKB-KW
  • protein kinase binding Source: BHF-UCL
  • protein serine/threonine kinase activity Source: HGNC
  • SMAD binding Source: HGNC
  • 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

<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

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BRENDAi
2.7.10.2 2681
2.7.11.30 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-201451 Signaling by BMP

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

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SignaLinki
P37023

SIGNOR Signaling Network Open Resource

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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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000139567.12

Human Gene Nomenclature Database

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HGNCi
HGNC:175 ACVRL1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
601284 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P37023

<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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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_location_section">'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 mutations 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.
See also OMIM:600376
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 Publication1
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 Publication1
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:rs1131691346Ensembl.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:rs1085307405Ensembl.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 Publication1
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:rs762773076EnsemblClinVar.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:rs1085307410Ensembl.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 Publications1
Natural variantiVAR_070330328H → Q in HHT2. 1 Publication1
Natural variantiVAR_006210333S → I in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs863223413EnsemblClinVar.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:rs1060503248Ensembl.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 Publication1
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:rs959973779Ensembl.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:rs1131691686Ensembl.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 Publications1
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:rs1085307419Ensembl.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 Publication1
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:rs1085307426Ensembl.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:rs1085307428Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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 mutation

Organism-specific databases

DisGeNET

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DisGeNETi
94

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

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GeneReviewsi
ACVRL1

MalaCards human disease database

More...
MalaCardsi
ACVRL1
MIMi600376 phenotype

Open Targets

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OpenTargetsi
ENSG00000139567

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

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Orphaneti
774 Hereditary hemorrhagic telangiectasia
275777 Heritable pulmonary arterial hypertension

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24496

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL5311

Drug and drug target database

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DrugBanki
DB00171 Adenosine triphosphate

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
1784

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ACVRL1

Domain mapping of disease mutations (DMDM)

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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.<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_processing_section">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

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EPDi
P37023

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

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PaxDbi
P37023

PeptideAtlas

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PeptideAtlasi
P37023

PRoteomics IDEntifications database

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PRIDEi
P37023

ProteomicsDB human proteome resource

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ProteomicsDBi
55254

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P37023

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

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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

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Bgeei
ENSG00000139567 Expressed in 181 organ(s), highest expression level in tendon of biceps brachii

CleanEx database of gene expression profiles

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CleanExi
HS_ACVRL1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P37023 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P37023 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA007041

<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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
LRG1P027503EBI-8043559,EBI-9083443

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106609, 19 interactors

Database of interacting proteins

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DIPi
DIP-5938N

Protein interaction database and analysis system

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IntActi
P37023, 5 interactors

Molecular INTeraction database

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MINTi
P37023

STRING: functional protein association networks

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STRINGi
9606.ENSP00000373574

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P37023

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P37023

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

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SMRi
P37023

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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_and_domains_section">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

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2052 Eukaryota
ENOG410XQT0 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161446

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000230587

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG054502

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P37023

KEGG Orthology (KO)

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KOi
K13594

Database for complete collections of gene phylogenies

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PhylomeDBi
P37023

TreeFam database of animal gene trees

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TreeFami
TF314724

Family and domain databases

Integrated resource of protein families, domains and functional sites

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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

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PANTHERi
PTHR23255 PTHR23255, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF07714 Pkinase_Tyr, 1 hit
PF08515 TGF_beta_GS, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00653 ACTIVIN2R

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00467 GS, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF56112 SSF56112, 1 hit

PROSITE; a protein domain and family database

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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: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>
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>
F8W0N2F8W0N2_HUMAN
Receptor protein serine/threonine k...
ACVRL1
159Annotation 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>
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 Publication1
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 Publication1
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:rs1131691346Ensembl.1
Natural variantiVAR_07958459E → V Found in a patient with pulmonary arterial hypertension; unknown pathological significance. 1 Publication1
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:rs1085307405Ensembl.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 Rare polymorphism; no loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately. 1 Publication1
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 Publication1
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:rs762773076EnsemblClinVar.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:rs1085307410Ensembl.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 Publications1
Natural variantiVAR_070330328H → Q in HHT2. 1 Publication1
Natural variantiVAR_006210333S → I in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs863223413EnsemblClinVar.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:rs1060503248Ensembl.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 Publication1
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:rs959973779Ensembl.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:rs1131691686Ensembl.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_026806399W → S in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909289EnsemblClinVar.1
Natural variantiVAR_070336400A → T Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication1
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 Publications1
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_075243417I → F Rare polymorphism; no loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately. 1 PublicationCorresponds to variant dbSNP:rs141653630Ensembl.1
Natural variantiVAR_070339424P → R in HHT2. 1 Publication1
Natural variantiVAR_006214424P → T in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307419Ensembl.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 Publication1
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:rs1085307426Ensembl.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_070344486K → E Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs113700354Ensembl.1
Natural variantiVAR_026816487K → T in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 PublicationCorresponds to variant dbSNP:rs1085307428Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
Z22533