UniProtKB - P37023 (ACVL1_HUMAN)
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>sp|P37023|ACVL1_HUMAN Serine/threonine-protein kinase receptor R3 OS=Homo sapiens OX=9606 GN=ACVRL1 PE=1 SV=2 MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEG RHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLA LILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGESSLILKASEQGDSMLGDLLDS DCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLAL RLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSD YLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVED YRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARL TALRIKKTLQKISNSPEKPKVIQCommunity curation ()Add a publicationFeedback
Serine/threonine-protein kinase receptor R3
ACVRL1
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>Select a section on the left to see content.
<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
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.7"Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties."
Mahlawat P., Ilangovan U., Biswas T., Sun L.Z., Hinck A.P.
Biochemistry 51:6328-6341(2012) [PubMed] [Europe PMC] [Abstract]Cited for: STRUCTURE BY NMR OF 19-118, FUNCTION AS BMP9 RECEPTOR, DISULFIDE BONDS, MUTAGENESIS OF 74-ARG--LEU-76. - Ref.8"Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex."
Townson S.A., Martinez-Hackert E., Greppi C., Lowden P., Sako D., Liu J., Ucran J.A., Liharska K., Underwood K.W., Seehra J., Kumar R., Grinberg A.V.
J. Biol. Chem. 287:27313-27325(2012) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (3.36 ANGSTROMS) OF 22-118 IN COMPLEX WITH BMP9 AND ACVR2B, FUNCTION AS BMP9 AND BMP10 RECEPTOR, DISULFIDE BONDS. - Ref.22"Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by hereditary hemorrhagic telangiectasia."
Alaa El Din F., Patri S., Thoreau V., Rodriguez-Ballesteros M., Hamade E., Bailly S., Gilbert-Dussardier B., Abou Merhi R., Kitzis A.
PLoS ONE 10:E0132111-E0132111(2015) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443, VARIANTS ASP-111 AND PHE-417, CHARACTERIZATION OF VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443, CHARACTERIZATION OF VARIANTS ASP-111 AND PHE-417, FUNCTION, SUBCELLULAR LOCATION.
<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
- ATPEC:2.7.11.30
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- ATPEC:2.7.11.30
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<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
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Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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 sitei | 229 | ATPPROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi | 1 | |
<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 sitei | 330 | Proton acceptorPROSITE-ProRule annotation Manual assertion according to rulesi | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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 bindingi | 208 – 216 | ATPPROSITE-ProRule annotation Manual assertion according to rulesi | 9 |
<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
<p>Inferred from Direct Assay</p>
<p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p>
Inferred from direct assayi
- Ref.2"Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors."
Attisano L., Carcamo J., Ventura F., Weis F.M., Massague J., Wrana J.L.
Cell 75:671-680(1993) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA].
- activin receptor activity, type I Source: MGIInferred from direct assayi
- Ref.2"Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors."
Attisano L., Carcamo J., Ventura F., Weis F.M., Massague J., Wrana J.L.
Cell 75:671-680(1993) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA].
- ATP binding Source: HGNC-UCLInferred from direct assayi
- "SB-431542 is a potent and specific inhibitor of transforming growth factor-beta superfamily type I activin receptor-like kinase (ALK) receptors ALK4, ALK5, and ALK7."
Inman G.J., Nicolas F.J., Callahan J.F., Harling J.D., Gaster L.M., Reith A.D., Laping N.J., Hill C.S.
Mol Pharmacol 62:65-74(2002) [PubMed] [Europe PMC] [Abstract]
- BMP receptor activity Source: UniProtKB
<p>Inferred from Mutant Phenotype</p>
<p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p>
Inferred from mutant phenotypei
- Ref.22"Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by hereditary hemorrhagic telangiectasia."
Alaa El Din F., Patri S., Thoreau V., Rodriguez-Ballesteros M., Hamade E., Bailly S., Gilbert-Dussardier B., Abou Merhi R., Kitzis A.
PLoS ONE 10:E0132111-E0132111(2015) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443, VARIANTS ASP-111 AND PHE-417, CHARACTERIZATION OF VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443, CHARACTERIZATION OF VARIANTS ASP-111 AND PHE-417, FUNCTION, SUBCELLULAR LOCATION.
- metal ion binding Source: UniProtKB-KW
- protein kinase binding Source: BHF-UCL
<p>Inferred from Physical Interaction</p>
<p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ipi">GO evidence code guide</a></p>
Inferred from physical interactioni
- "Casein kinase 2beta as a novel enhancer of activin-like receptor-1 signaling."
Lee N.Y., Haney J.C., Sogani J., Blobe G.C.
FASEB J 23:3712-3721(2009) [PubMed] [Europe PMC] [Abstract]
- protein serine/threonine kinase activity Source: HGNC-UCLInferred from direct assayi
- "SB-431542 is a potent and specific inhibitor of transforming growth factor-beta superfamily type I activin receptor-like kinase (ALK) receptors ALK4, ALK5, and ALK7."
Inman G.J., Nicolas F.J., Callahan J.F., Harling J.D., Gaster L.M., Reith A.D., Laping N.J., Hill C.S.
Mol Pharmacol 62:65-74(2002) [PubMed] [Europe PMC] [Abstract] - "Regulation of ALK-1 signaling by the nuclear receptor LXRbeta."
Mo J., Fang S.J., Chen W., Blobe G.C.
J Biol Chem 277:50788-50794(2002) [PubMed] [Europe PMC] [Abstract]
- SMAD binding Source: HGNC-UCLInferred from direct assayi
- "SB-431542 is a potent and specific inhibitor of transforming growth factor-beta superfamily type I activin receptor-like kinase (ALK) receptors ALK4, ALK5, and ALK7."
Inman G.J., Nicolas F.J., Callahan J.F., Harling J.D., Gaster L.M., Reith A.D., Laping N.J., Hill C.S.
Mol Pharmacol 62:65-74(2002) [PubMed] [Europe PMC] [Abstract]
- transforming growth factor beta-activated receptor activity Source: MGIInferred from direct assayi
- Ref.2"Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors."
Attisano L., Carcamo J., Ventura F., Weis F.M., Massague J., Wrana J.L.
Cell 75:671-680(1993) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA].
- transforming growth factor beta binding Source: UniProtKBInferred from physical interactioni
- Ref.2"Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors."
Attisano L., Carcamo J., Ventura F., Weis F.M., Massague J., Wrana J.L.
Cell 75:671-680(1993) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA].
- transforming growth factor beta receptor activity, type I Source: UniProtKBInferred from direct assayi
- Ref.2"Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors."
Attisano L., Carcamo J., Ventura F., Weis F.M., Massague J., Wrana J.L.
Cell 75:671-680(1993) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA].
- transmembrane receptor protein serine/threonine kinase activity Source: UniProtKB
<p>Non-traceable Author Statement</p>
<p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#nas">GO evidence code guide</a></p>
Non-traceable author statementi
- Ref.2"Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors."
Attisano L., Carcamo J., Ventura F., Weis F.M., Massague J., Wrana J.L.
Cell 75:671-680(1993) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA].
GO - Biological processi
- angiogenesis Source: HGNC-UCLInferred from mutant phenotypei
- Ref.18"Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype."
Bossler A.D., Richards J., George C., Godmilow L., Ganguly A.
Hum. Mutat. 27:667-675(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT SER-30, VARIANTS HHT2 TYR-34; ALA-52; ILE-197; ASP-219; LYS-237; LEU-260; PRO-289; ARG-344; CYS-426 AND ARG-433.
- artery development Source: BHF-UCL
- blood circulation Source: HGNC-UCLInferred from mutant phenotypei
- Ref.18"Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype."
Bossler A.D., Richards J., George C., Godmilow L., Ganguly A.
Hum. Mutat. 27:667-675(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT SER-30, VARIANTS HHT2 TYR-34; ALA-52; ILE-197; ASP-219; LYS-237; LEU-260; PRO-289; ARG-344; CYS-426 AND ARG-433.
- blood vessel endothelial cell proliferation involved in sprouting angiogenesis Source: DFLAT
<p>Traceable Author Statement</p>
<p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#tas">GO evidence code guide</a></p>
Traceable author statementi
- "BMP-9 induces proliferation of multiple types of endothelial cells in vitro and in vivo."
Suzuki Y., Ohga N., Morishita Y., Hida K., Miyazono K., Watabe T.
J Cell Sci 123:1684-1692(2010) [PubMed] [Europe PMC] [Abstract]
- blood vessel maturation Source: DFLATTraceable author statementi
- "BMP-9 induces proliferation of multiple types of endothelial cells in vitro and in vivo."
Suzuki Y., Ohga N., Morishita Y., Hida K., Miyazono K., Watabe T.
J Cell Sci 123:1684-1692(2010) [PubMed] [Europe PMC] [Abstract]
- blood vessel remodeling Source: BHF-UCL
- BMP signaling pathway Source: BHF-UCLInferred from mutant phenotypei
- "Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells."
Upton P.D., Davies R.J., Trembath R.C., Morrell N.W.
J Biol Chem 284:15794-15804(2009) [PubMed] [Europe PMC] [Abstract]
- cellular response to BMP stimulus Source: BHF-UCLInferred from mutant phenotypei
- "Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells."
Upton P.D., Davies R.J., Trembath R.C., Morrell N.W.
J Biol Chem 284:15794-15804(2009) [PubMed] [Europe PMC] [Abstract] - "ALK1 signaling regulates early postnatal lymphatic vessel development."
Niessen K., Zhang G., Ridgway J.B., Chen H., Yan M.
Blood 115:1654-1661(2010) [PubMed] [Europe PMC] [Abstract]
- cellular response to growth factor stimulus Source: GO_Central
<p>Inferred from Biological aspect of Ancestor</p>
<p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p>
Inferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- cellular response to transforming growth factor beta stimulus Source: BHF-UCLInferred from direct assayi
- "Increase in ALK1/ALK5 ratio as a cause for elevated MMP-13 expression in osteoarthritis in humans and mice."
Blaney Davidson E.N., Remst D.F., Vitters E.L., van Beuningen H.M., Blom A.B., Goumans M.J., van den Berg W.B., van der Kraan P.M.
J Immunol 182:7937-7945(2009) [PubMed] [Europe PMC] [Abstract]
- dorsal/ventral pattern formation Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- dorsal aorta morphogenesis Source: BHF-UCL
- endocardial cushion morphogenesis Source: BHF-UCL
- endothelial tube morphogenesis Source: BHF-UCLInferred from mutant phenotypei
- "Casein kinase 2beta as a novel enhancer of activin-like receptor-1 signaling."
Lee N.Y., Haney J.C., Sogani J., Blobe G.C.
FASEB J 23:3712-3721(2009) [PubMed] [Europe PMC] [Abstract]
- heart development Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- lymphangiogenesis Source: BHF-UCL
- lymphatic endothelial cell differentiation Source: BHF-UCLInferred from mutant phenotypei
- "ALK1 signaling regulates early postnatal lymphatic vessel development."
Niessen K., Zhang G., Ridgway J.B., Chen H., Yan M.
Blood 115:1654-1661(2010) [PubMed] [Europe PMC] [Abstract]
- negative regulation of blood vessel endothelial cell migration Source: BHF-UCLInferred from mutant phenotypei
- "Casein kinase 2beta as a novel enhancer of activin-like receptor-1 signaling."
Lee N.Y., Haney J.C., Sogani J., Blobe G.C.
FASEB J 23:3712-3721(2009) [PubMed] [Europe PMC] [Abstract]
- negative regulation of cell adhesion Source: HGNC-UCLInferred from mutant phenotypei
- "Activin receptor-like kinase 1 is implicated in the maturation phase of angiogenesis."
Lamouille S., Mallet C., Feige J.J., Bailly S.
Blood 100:4495-4501(2002) [PubMed] [Europe PMC] [Abstract]
- negative regulation of cell growth Source: BHF-UCLInferred from direct assayi
- "Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells."
David L., Mallet C., Mazerbourg S., Feige J.-J., Bailly S.
Blood 109:1953-1961(2007) [PubMed] [Europe PMC] [Abstract]
- negative regulation of cell migration Source: HGNC-UCLInferred from mutant phenotypei
- "Activin receptor-like kinase 1 is implicated in the maturation phase of angiogenesis."
Lamouille S., Mallet C., Feige J.J., Bailly S.
Blood 100:4495-4501(2002) [PubMed] [Europe PMC] [Abstract]
- negative regulation of cell population proliferation Source: HGNC-UCLInferred from mutant phenotypei
- "Activin receptor-like kinase 1 is implicated in the maturation phase of angiogenesis."
Lamouille S., Mallet C., Feige J.J., Bailly S.
Blood 100:4495-4501(2002) [PubMed] [Europe PMC] [Abstract]
- negative regulation of DNA biosynthetic process Source: BHF-UCLInferred from mutant phenotypei
- "Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells."
Upton P.D., Davies R.J., Trembath R.C., Morrell N.W.
J Biol Chem 284:15794-15804(2009) [PubMed] [Europe PMC] [Abstract]
- negative regulation of endothelial cell migration Source: BHF-UCLInferred from direct assayi
- "Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells."
David L., Mallet C., Mazerbourg S., Feige J.-J., Bailly S.
Blood 109:1953-1961(2007) [PubMed] [Europe PMC] [Abstract]
- negative regulation of focal adhesion assembly Source: HGNC-UCLInferred from mutant phenotypei
- "Activin receptor-like kinase 1 is implicated in the maturation phase of angiogenesis."
Lamouille S., Mallet C., Feige J.J., Bailly S.
Blood 100:4495-4501(2002) [PubMed] [Europe PMC] [Abstract]
- negative regulation of gene expression Source: BHF-UCL
- positive regulation of BMP signaling pathway Source: BHF-UCLInferred from direct assayi
- "Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells."
David L., Mallet C., Mazerbourg S., Feige J.-J., Bailly S.
Blood 109:1953-1961(2007) [PubMed] [Europe PMC] [Abstract]
- positive regulation of chondrocyte differentiation Source: BHF-UCLTraceable author statementi
- "Increase in ALK1/ALK5 ratio as a cause for elevated MMP-13 expression in osteoarthritis in humans and mice."
Blaney Davidson E.N., Remst D.F., Vitters E.L., van Beuningen H.M., Blom A.B., Goumans M.J., van den Berg W.B., van der Kraan P.M.
J Immunol 182:7937-7945(2009) [PubMed] [Europe PMC] [Abstract]
- positive regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCLInferred from mutant phenotypei
- "Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells."
Upton P.D., Davies R.J., Trembath R.C., Morrell N.W.
J Biol Chem 284:15794-15804(2009) [PubMed] [Europe PMC] [Abstract]
- positive regulation of transcription, DNA-templated Source: HGNC-UCLInferred from direct assayi
- "Regulation of ALK-1 signaling by the nuclear receptor LXRbeta."
Mo J., Fang S.J., Chen W., Blobe G.C.
J Biol Chem 277:50788-50794(2002) [PubMed] [Europe PMC] [Abstract]
- positive regulation of transcription by RNA polymerase II Source: BHF-UCLInferred from direct assayi
- "Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells."
Upton P.D., Davies R.J., Trembath R.C., Morrell N.W.
J Biol Chem 284:15794-15804(2009) [PubMed] [Europe PMC] [Abstract]
- protein phosphorylation Source: HGNC-UCLInferred from direct assayi
- "SB-431542 is a potent and specific inhibitor of transforming growth factor-beta superfamily type I activin receptor-like kinase (ALK) receptors ALK4, ALK5, and ALK7."
Inman G.J., Nicolas F.J., Callahan J.F., Harling J.D., Gaster L.M., Reith A.D., Laping N.J., Hill C.S.
Mol Pharmacol 62:65-74(2002) [PubMed] [Europe PMC] [Abstract]
- regulation of blood pressure Source: HGNC-UCLInferred from mutant phenotypei
- Ref.14"Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia."
Harrison R.E., Flanagan J.A., Sankelo M., Abdalla S.A., Rowell J., Machado R.D., Elliott C.G., Robbins I.M., Olschewski H., McLaughlin V., Gruenig E., Kermeen F., Halme M., Raeisaenen-Sokolowski A., Laitinen T., Morrell N.W., Trembath R.C.
J. Med. Genet. 40:865-871(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 ALA-179; ASP-211; TYR-344; TRP-374; GLN-374; SER-399; GLN-411 AND THR-487, CHARACTERIZATION OF VARIANTS HHT2 CYS-50; GLN-67; TRP-77; ALA-179; ASP-211; SER-232 DEL; ASP-254 DEL; ILE-333; TYR-344; GLN-374; LEU-378; GLN-411 AND THR-487.
- regulation of blood vessel endothelial cell migration Source: DFLATTraceable author statementi
- "BMP-9 induces proliferation of multiple types of endothelial cells in vitro and in vivo."
Suzuki Y., Ohga N., Morishita Y., Hida K., Miyazono K., Watabe T.
J Cell Sci 123:1684-1692(2010) [PubMed] [Europe PMC] [Abstract]
- regulation of DNA replication Source: DFLATTraceable author statementi
- "BMP-9 induces proliferation of multiple types of endothelial cells in vitro and in vivo."
Suzuki Y., Ohga N., Morishita Y., Hida K., Miyazono K., Watabe T.
J Cell Sci 123:1684-1692(2010) [PubMed] [Europe PMC] [Abstract]
- regulation of endothelial cell proliferation Source: DFLATTraceable author statementi
- "BMP-9 induces proliferation of multiple types of endothelial cells in vitro and in vivo."
Suzuki Y., Ohga N., Morishita Y., Hida K., Miyazono K., Watabe T.
J Cell Sci 123:1684-1692(2010) [PubMed] [Europe PMC] [Abstract]
- regulation of transcription, DNA-templated Source: HGNC-UCLInferred from mutant phenotypei
- "Interaction and functional interplay between endoglin and ALK-1, two components of the endothelial transforming growth factor-beta receptor complex."
Blanco F.J., Santibanez J.F., Guerrero-Esteo M., Langa C., Vary C.P., Bernabeu C.
J Cell Physiol 204:574-584(2005) [PubMed] [Europe PMC] [Abstract]
- retina vasculature development in camera-type eye Source: BHF-UCL
- signal transduction Source: HGNC-UCLInferred from direct assayi
- "Interaction and functional interplay between endoglin and ALK-1, two components of the endothelial transforming growth factor-beta receptor complex."
Blanco F.J., Santibanez J.F., Guerrero-Esteo M., Langa C., Vary C.P., Bernabeu C.
J Cell Physiol 204:574-584(2005) [PubMed] [Europe PMC] [Abstract]
- transforming growth factor beta receptor signaling pathway Source: HGNC-UCLInferred from direct assayi
- "Interaction and functional interplay between endoglin and ALK-1, two components of the endothelial transforming growth factor-beta receptor complex."
Blanco F.J., Santibanez J.F., Guerrero-Esteo M., Langa C., Vary C.P., Bernabeu C.
J Cell Physiol 204:574-584(2005) [PubMed] [Europe PMC] [Abstract]
- venous blood vessel development Source: BHF-UCL
- wound healing, spreading of epidermal cells Source: HGNC-UCLInferred from mutant phenotypei
- "Activin receptor-like kinase 1 is implicated in the maturation phase of angiogenesis."
Lamouille S., Mallet C., Feige J.J., Bailly S.
Blood 100:4495-4501(2002) [PubMed] [Europe PMC] [Abstract]
<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 function | Kinase, Receptor, Serine/threonine-protein kinase, Transferase |
Biological process | Angiogenesis |
Ligand | ATP-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>Organismi | Homo 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 identifieri | 9606 [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 lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › 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 |
|
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
Plasma membrane
- Cell membrane 1 Publication
Manual assertion based on experiment ini
- Ref.22"Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by hereditary hemorrhagic telangiectasia."
Alaa El Din F., Patri S., Thoreau V., Rodriguez-Ballesteros M., Hamade E., Bailly S., Gilbert-Dussardier B., Abou Merhi R., Kitzis A.
PLoS ONE 10:E0132111-E0132111(2015) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443, VARIANTS ASP-111 AND PHE-417, CHARACTERIZATION OF VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443, CHARACTERIZATION OF VARIANTS ASP-111 AND PHE-417, FUNCTION, SUBCELLULAR LOCATION.
- Cell membrane 1 Publication
Plasma Membrane
- BMP receptor complex Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- integral component of plasma membrane Source: UniProtKBInferred from direct assayi
- Ref.2"Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors."
Attisano L., Carcamo J., Ventura F., Weis F.M., Massague J., Wrana J.L.
Cell 75:671-680(1993) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA].
- plasma membrane Source: UniProtKBInferred from direct assayi
- Ref.22"Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by hereditary hemorrhagic telangiectasia."
Alaa El Din F., Patri S., Thoreau V., Rodriguez-Ballesteros M., Hamade E., Bailly S., Gilbert-Dussardier B., Abou Merhi R., Kitzis A.
PLoS ONE 10:E0132111-E0132111(2015) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443, VARIANTS ASP-111 AND PHE-417, CHARACTERIZATION OF VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443, CHARACTERIZATION OF VARIANTS ASP-111 AND PHE-417, FUNCTION, SUBCELLULAR LOCATION.
- BMP receptor complex Source: GO_CentralInferred from biological aspect of ancestori
Other locations
- cell surface Source: MGIInferred from direct assayi
- Ref.2"Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors."
Attisano L., Carcamo J., Ventura F., Weis F.M., Massague J., Wrana J.L.
Cell 75:671-680(1993) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA].
- receptor complex Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- cell surface Source: MGIInferred from direct assayi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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 domaini | 22 – 118 | ExtracellularSequence analysisAdd BLAST | 97 | |
<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>Transmembranei | 119 – 141 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 142 – 503 | CytoplasmicSequence analysisAdd BLAST | 362 |
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 PublicationsManual assertion based on experiment ini
- Ref.3"The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2."
Berg J.N., Gallione C.J., Stenzel T.T., Johnson D.W., Allen W.P., Schwartz C.E., Jackson C.E., Porteous M.E.M., Marchuk D.A.
Am. J. Hum. Genet. 61:60-67(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HHT2 CYS-50; GLN-67; ILE-333; TRP-374 AND THR-424. - Ref.9"Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2."
Johnson D.W., Berg J.N., Baldwin M.A., Gallione C.J., Marondel I., Yoon S.-J., Stenzel T.T., Speer M., Pericak-Vance M.A., Diamond A., Guttmacher A.E., Jackson C.E., Attisano L., Kucherlapati R., Porteous M.E.M., Marchuk D.A.
Nat. Genet. 13:189-194(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 SER-232 DEL; ARG-376 AND GLN-411. - Ref.10"Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia."
Klaus D.J., Gallione C.J., Anthony K., Yeh E.Y., Yu J., Lux A., Johnson D.W., Marchuk D.A.
Hum. Mutat. 12:137-137(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 TYR-51; TRP-77 AND ASP-96. - Ref.11"Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2."
Abdalla S.A., Pece-Barbara N., Vera S., Tapia E., Paez E., Bernabeu C., Letarte M.
Hum. Mol. Genet. 9:1227-1237(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 GLY-48-49-ALA DELINS EP; CYS-50; SER-232 DEL; ILE-333; TYR-344 AND ASP-407. - Ref.12"Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families."
Kjeldsen A.D., Brusgaard K., Poulsen L., Kruse T., Rasmussen K., Green A., Vase P.
Am. J. Med. Genet. 98:298-302(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 TRP-374 AND ASN-398. - Ref.13"Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia."
Trembath R.C., Thomson J.R., Machado R.D., Morgan N.V., Atkinson C., Winship I., Simonneau G., Galie N., Loyd J.E., Humbert M., Nichols W.C., Berg J., Manes A., McGaughran J., Pauciulo M., Wheeler L., Morrell N.W.
N. Engl. J. Med. 345:325-334(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 ASP-254 DEL; TRP-411 AND TRP-484. - Ref.14"Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia."
Harrison R.E., Flanagan J.A., Sankelo M., Abdalla S.A., Rowell J., Machado R.D., Elliott C.G., Robbins I.M., Olschewski H., McLaughlin V., Gruenig E., Kermeen F., Halme M., Raeisaenen-Sokolowski A., Laitinen T., Morrell N.W., Trembath R.C.
J. Med. Genet. 40:865-871(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 ALA-179; ASP-211; TYR-344; TRP-374; GLN-374; SER-399; GLN-411 AND THR-487, CHARACTERIZATION OF VARIANTS HHT2 CYS-50; GLN-67; TRP-77; ALA-179; ASP-211; SER-232 DEL; ASP-254 DEL; ILE-333; TYR-344; GLN-374; LEU-378; GLN-411 AND THR-487. - Ref.16"Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France."
French Rendu-Osler network
Lesca G., Plauchu H., Coulet F., Lefebvre S., Plessis G., Odent S., Riviere S., Leheup B., Goizet C., Carette M.-F., Cordier J.-F., Pinson S., Soubrier F., Calender A., Giraud S.
Hum. Mutat. 23:289-299(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 ARG-48; LYS-215; ARG-223; ARG-229; SER-233 DEL; PHE-285; PRO-306; TYR-314; PRO-337; PRO-347; GLN-374; VAL-376; LYS-379; GLY-397; TRP-411; PRO-411; GLN-411; LEU-425; LEU-479; VAL-482 AND TRP-484. - Ref.17"Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations."
Kuehl H.K.A., Caselitz M., Hasenkamp S., Wagner S., El-Harith E.-H.A., Manns M.P., Stuhrmann M.
Hum. Mutat. 25:320-320(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 TRP-67; TRP-374; LYS-379; ASP-407; TRP-411; VAL-425 AND PHE-425 DEL. - Ref.18"Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype."
Bossler A.D., Richards J., George C., Godmilow L., Ganguly A.
Hum. Mutat. 27:667-675(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT SER-30, VARIANTS HHT2 TYR-34; ALA-52; ILE-197; ASP-219; LYS-237; LEU-260; PRO-289; ARG-344; CYS-426 AND ARG-433. - Ref.19"Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia."
Argyriou L., Twelkemeyer S., Panchulidze I., Wehner L.E., Teske U., Engel W., Nayernia K.
Int. J. Mol. Med. 17:655-659(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 GLY-50; PRO-66; ARG-69; TYR-176; LEU-233; PRO-265; PRO-403 AND SER-416. - Ref.20"Update on molecular diagnosis of hereditary hemorrhagic telangiectasia."
Richards-Yutz J., Grant K., Chao E.C., Walther S.E., Ganguly A.
Hum. Genet. 128:61-77(2010) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CYS-38; PRO-138; LYS-277; PRO-342; THR-400 AND GLU-486, VARIANTS HHT2 SER-96; GLY-217; GLU-226; ARG-280; ARG-294; GLN-328; HIS-335; ASP-347; SER-378; ARG-424; SER-449 AND PRO-479. - Ref.22"Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by hereditary hemorrhagic telangiectasia."
Alaa El Din F., Patri S., Thoreau V., Rodriguez-Ballesteros M., Hamade E., Bailly S., Gilbert-Dussardier B., Abou Merhi R., Kitzis A.
PLoS ONE 10:E0132111-E0132111(2015) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443, VARIANTS ASP-111 AND PHE-417, CHARACTERIZATION OF VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443, CHARACTERIZATION OF VARIANTS ASP-111 AND PHE-417, FUNCTION, SUBCELLULAR LOCATION.
Berg J.N., Gallione C.J., Stenzel T.T., Johnson D.W., Allen W.P., Schwartz C.E., Jackson C.E., Porteous M.E.M., Marchuk D.A.
Am. J. Hum. Genet. 61:60-67(1997) [PubMed] [Europe PMC] [Abstract]
Johnson D.W., Berg J.N., Baldwin M.A., Gallione C.J., Marondel I., Yoon S.-J., Stenzel T.T., Speer M., Pericak-Vance M.A., Diamond A., Guttmacher A.E., Jackson C.E., Attisano L., Kucherlapati R., Porteous M.E.M., Marchuk D.A.
Nat. Genet. 13:189-194(1996) [PubMed] [Europe PMC] [Abstract]
Klaus D.J., Gallione C.J., Anthony K., Yeh E.Y., Yu J., Lux A., Johnson D.W., Marchuk D.A.
Hum. Mutat. 12:137-137(1998) [PubMed] [Europe PMC] [Abstract]
Abdalla S.A., Pece-Barbara N., Vera S., Tapia E., Paez E., Bernabeu C., Letarte M.
Hum. Mol. Genet. 9:1227-1237(2000) [PubMed] [Europe PMC] [Abstract]
Kjeldsen A.D., Brusgaard K., Poulsen L., Kruse T., Rasmussen K., Green A., Vase P.
Am. J. Med. Genet. 98:298-302(2001) [PubMed] [Europe PMC] [Abstract]
Trembath R.C., Thomson J.R., Machado R.D., Morgan N.V., Atkinson C., Winship I., Simonneau G., Galie N., Loyd J.E., Humbert M., Nichols W.C., Berg J., Manes A., McGaughran J., Pauciulo M., Wheeler L., Morrell N.W.
N. Engl. J. Med. 345:325-334(2001) [PubMed] [Europe PMC] [Abstract]
Harrison R.E., Flanagan J.A., Sankelo M., Abdalla S.A., Rowell J., Machado R.D., Elliott C.G., Robbins I.M., Olschewski H., McLaughlin V., Gruenig E., Kermeen F., Halme M., Raeisaenen-Sokolowski A., Laitinen T., Morrell N.W., Trembath R.C.
J. Med. Genet. 40:865-871(2003) [PubMed] [Europe PMC] [Abstract]
French Rendu-Osler network
Lesca G., Plauchu H., Coulet F., Lefebvre S., Plessis G., Odent S., Riviere S., Leheup B., Goizet C., Carette M.-F., Cordier J.-F., Pinson S., Soubrier F., Calender A., Giraud S.
Hum. Mutat. 23:289-299(2004) [PubMed] [Europe PMC] [Abstract]
Kuehl H.K.A., Caselitz M., Hasenkamp S., Wagner S., El-Harith E.-H.A., Manns M.P., Stuhrmann M.
Hum. Mutat. 25:320-320(2005) [PubMed] [Europe PMC] [Abstract]
Bossler A.D., Richards J., George C., Godmilow L., Ganguly A.
Hum. Mutat. 27:667-675(2006) [PubMed] [Europe PMC] [Abstract]
Argyriou L., Twelkemeyer S., Panchulidze I., Wehner L.E., Teske U., Engel W., Nayernia K.
Int. J. Mol. Med. 17:655-659(2006) [PubMed] [Europe PMC] [Abstract]
Richards-Yutz J., Grant K., Chao E.C., Walther S.E., Ganguly A.
Hum. Genet. 128:61-77(2010) [PubMed] [Europe PMC] [Abstract]
Alaa El Din F., Patri S., Thoreau V., Rodriguez-Ballesteros M., Hamade E., Bailly S., Gilbert-Dussardier B., Abou Merhi R., Kitzis A.
PLoS ONE 10:E0132111-E0132111(2015) [PubMed] [Europe PMC] [Abstract]
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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_070309 | 34 | C → Y in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075231 | 41 | C → G in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075232 | 41 | C → Y in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075233 | 46 | C → G in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075234 | 47 | R → P in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026784 | 48 – 49 | GA → EP in HHT2. Corresponds to variant dbSNP:rs387906392Ensembl. | 2 | |
Natural variantiVAR_026785 | 48 | G → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006204 | 50 | W → C in HHT2; retained in the endoplasmic reticulum. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070311 | 50 | W → G in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006205 | 51 | C → Y in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070312 | 52 | T → A in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070313 | 66 | H → P in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075235 | 66 | H → Y in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006206 | 67 | R → Q in HHT2; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026786 | 67 | R → W in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070314 | 69 | C → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075236 | 77 | C → F in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006207 | 77 | C → W in HHT2; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006208 | 96 | N → D in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070315 | 96 | N → S in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070317 | 176 | D → Y in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026787 | 179 | D → A in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070318 | 197 | T → I in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026788 | 211 | G → D in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075238 | 211 | G → S in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026789 | 215 | E → K in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070319 | 217 | W → G in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070320 | 219 | G → D in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026790 | 223 | G → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070321 | 226 | V → E in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026791 | 229 | K → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006209 | 232 | Missing in HHT2; mutant protein is capable of targeting the cell surface appropriately. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070322 | 233 | S → L in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026792 | 233 | Missing in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070323 | 237 | Q → K in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075239 | 245 | I → V in HHT2; no loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately; affects splicing by inducing the creation of a new donor splice site and the loss of the 3' end of exon 6. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026793 | 254 | Missing in HHT2; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070324 | 260 | I → L in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070325 | 265 | T → P in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070327 | 280 | H → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026794 | 285 | L → F in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070328 | 289 | L → P in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070329 | 294 | L → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026795 | 306 | A → P in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075240 | 313 | L → V in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026796 | 314 | H → Y in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070330 | 328 | H → Q in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006210 | 333 | S → I in HHT2; retained in the endoplasmic reticulum. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070331 | 335 | N → H in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026797 | 337 | L → P in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070333 | 344 | C → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026798 | 344 | C → Y in HHT2; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070334 | 347 | A → D in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026799 | 347 | A → P in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026800 | 374 | R → Q in HHT2; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006211 | 374 | R → W in HHT2. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006212 | 376 | M → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026801 | 376 | M → V in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026802 | 378 | P → L in HHT2; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070335 | 378 | P → S in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075241 | 379 | E → D in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026803 | 379 | E → K in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026804 | 397 | D → G in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026805 | 398 | I → N in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026806 | 399 | W → S in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070337 | 403 | L → P in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075242 | 404 | V → G in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026807 | 407 | E → D in HHT2. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026808 | 411 | R → P in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006213 | 411 | R → Q in HHT2; retained in the endoplasmic reticulum. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026809 | 411 | R → W in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070338 | 416 | G → S in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070339 | 424 | P → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006214 | 424 | P → T in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026810 | 425 | F → L in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026811 | 425 | F → V in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026812 | 425 | Missing in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070340 | 426 | Y → C in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070341 | 433 | P → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075244 | 441 | V → M in HHT2; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075245 | 443 | C → Y in HHT2; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070342 | 449 | P → S in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026813 | 479 | R → L in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070343 | 479 | R → P in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026814 | 482 | A → V in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026815 | 484 | R → W in HHT2. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026816 | 487 | K → T in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 Publication Manual assertion based on experiment ini
| 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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>Mutagenesisi | 74 – 76 | REL → DFQ: Affinity for BMP9 decreased by 200-fold. 1 Publication Manual assertion based on experiment ini
| 3 |
Keywords - Diseasei
Disease variantOrganism-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 |
MIMi | 600376, 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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 peptidei | 1 – 21 | Sequence analysisAdd BLAST | 21 | |
<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_0000024420 | 22 – 503 | Serine/threonine-protein kinase receptor R3Add BLAST | 482 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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 bondi | 34 ↔ 51 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
| ||
Disulfide bondi | 36 ↔ 41 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
| ||
Disulfide bondi | 46 ↔ 69 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
| ||
Disulfide bondi | 77 ↔ 89 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
| ||
Disulfide bondi | 90 ↔ 95 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei 2 PublicationsManual assertion based on experiment ini
| ||
<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>Glycosylationi | 98 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
<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 residuei | 155 | PhosphoserineBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 | |
Modified residuei | 160 | PhosphoserineBy similarity Manual assertion inferred from sequence similarity toi | 1 | |
Modified residuei | 161 | PhosphoserineBy similarity Manual assertion inferred from sequence similarity toi | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic 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
Show more detailsHide detailsP37023
With | #Exp. | IntAct |
---|---|---|
Growth/differentiation factor 2 (PRO_0000033903) | 2 | EBI-8043559,EBI-16227344 |
LRG1 [P02750] | 3 | EBI-8043559,EBI-9083443 |
GO - Molecular functioni
- protein kinase binding Source: BHF-UCLInferred from physical interactioni
- "Casein kinase 2beta as a novel enhancer of activin-like receptor-1 signaling."
Lee N.Y., Haney J.C., Sogani J., Blobe G.C.
FASEB J 23:3712-3721(2009) [PubMed] [Europe PMC] [Abstract]
- SMAD binding Source: HGNC-UCLInferred from direct assayi
- "SB-431542 is a potent and specific inhibitor of transforming growth factor-beta superfamily type I activin receptor-like kinase (ALK) receptors ALK4, ALK5, and ALK7."
Inman G.J., Nicolas F.J., Callahan J.F., Harling J.D., Gaster L.M., Reith A.D., Laping N.J., Hill C.S.
Mol Pharmacol 62:65-74(2002) [PubMed] [Europe PMC] [Abstract]
- transforming growth factor beta binding Source: UniProtKBInferred from physical interactioni
- Ref.2"Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors."
Attisano L., Carcamo J., Ventura F., Weis F.M., Massague J., Wrana J.L.
Cell 75:671-680(1993) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA].
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
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the <a href="http://www.uniprot.org/help/structure%5Fsection">'Structure'</a> section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 26 – 28 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
<p>This subsection of the <a href="http://www.uniprot.org/help/structure%5Fsection">'Structure'</a> section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 32 – 35 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 42 – 56 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 15 | |
Beta strandi | 59 – 61 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Beta strandi | 64 – 72 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 9 | |
Helixi | 74 – 78 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Beta strandi | 83 – 90 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 8 | |
<p>This subsection of the <a href="http://www.uniprot.org/help/structure%5Fsection">'Structure'</a> section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the DSSP secondary structure code 'T'.<p><a href='/help/turn' target='_top'>More...</a></p>Turni | 93 – 96 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Helixi | 198 – 201 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 203 – 211 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 9 | |
Beta strandi | 214 – 221 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 8 | |
Beta strandi | 224 – 231 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 8 | |
Helixi | 233 – 235 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 236 – 248 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 13 | |
Beta strandi | 259 – 265 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 7 | |
Beta strandi | 267 – 269 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Beta strandi | 272 – 278 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 7 | |
Helixi | 285 – 291 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 7 | |
Helixi | 296 – 314 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 19 | |
Beta strandi | 325 – 327 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Beta strandi | 335 – 338 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 344 – 346 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Beta strandi | 353 – 355 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Beta strandi | 357 – 359 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 373 – 375 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 378 – 381 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Helixi | 390 – 410 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 21 | |
Turni | 424 – 428 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Helixi | 435 – 442 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 8 | |
Beta strandi | 455 – 459 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Turni | 460 – 462 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 463 – 469 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 7 | |
Helixi | 476 – 478 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 482 – 491 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 10 |
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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>Domaini | 172 – 201 | GSPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 30 | |
Domaini | 202 – 492 | Protein kinasePROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 291 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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>Regioni | 73 – 76 | Mediates specificity for BMP ligand | 4 |
<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 helixPhylogenomic 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
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
<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 basketEntry | Entry name | Protein names | Gene names | Length | Annotation | ||
---|---|---|---|---|---|---|---|
G3V1W8 | G3V1W8_HUMAN | Serine/threonine-protein kinase rec... Serine/threonine-protein kinase receptor, EC 2.7.11.30 | ACVRL1 hCG_37967 | 517 | 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> | ||
E7EN07 | E7EN07_HUMAN | Receptor protein serine/threonine k... Receptor protein serine/threonine kinase, EC 2.7.11.30 | ACVRL1 | 329 | Annotation 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> | ||
H3BTZ2 | H3BTZ2_HUMAN | Receptor protein serine/threonine k... Receptor protein serine/threonine kinase, EC 2.7.11.30 | ACVRL1 | 163 | Annotation 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> | ||
F8W0N2 | F8W0N2_HUMAN | Serine/threonine-protein kinase rec... Serine/threonine-protein kinase receptor R3 | ACVRL1 | 159 | Annotation 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> | ||
D9IPD9 | D9IPD9_HUMAN | Activin A receptor type II-like kin... Activin A receptor type II-like kinase 1 variant 3 (Activin A receptor type II-like kinase 1 variant 4) (Serine/threonine-protein kinase receptor R3) | ACVRL1 | 89 | Annotation 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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 conflicti | 172 | S → T in CAA80255 (PubMed:8397373).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079583 | 8 | K → N1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070308 | 30 | P → S Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070309 | 34 | C → Y in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070310 | 38 | S → C1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075231 | 41 | C → G in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075232 | 41 | C → Y in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075233 | 46 | C → G in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075234 | 47 | R → P in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026784 | 48 – 49 | GA → EP in HHT2. Corresponds to variant dbSNP:rs387906392Ensembl. | 2 | |
Natural variantiVAR_026785 | 48 | G → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006204 | 50 | W → C in HHT2; retained in the endoplasmic reticulum. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070311 | 50 | W → G in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006205 | 51 | C → Y in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070312 | 52 | T → A in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_079584 | 59 | E → V Found in a patient with pulmonary arterial hypertension; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070313 | 66 | H → P in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075235 | 66 | H → Y in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006206 | 67 | R → Q in HHT2; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026786 | 67 | R → W in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070314 | 69 | C → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075236 | 77 | C → F in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006207 | 77 | C → W in HHT2; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006208 | 96 | N → D in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070315 | 96 | N → S in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075237 | 111 | E → D No loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070316 | 138 | L → P1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_079585 | 159 | E → V Found in a patient with pulmonary arterial hypertension; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070317 | 176 | D → Y in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026787 | 179 | D → A in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070318 | 197 | T → I in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026788 | 211 | G → D in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075238 | 211 | G → S in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026789 | 215 | E → K in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070319 | 217 | W → G in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070320 | 219 | G → D in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026790 | 223 | G → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_079586 | 225 | S → C Found in a patient with pulmonary arterial hypertension; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070321 | 226 | V → E in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026791 | 229 | K → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006209 | 232 | Missing in HHT2; mutant protein is capable of targeting the cell surface appropriately. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070322 | 233 | S → L in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026792 | 233 | Missing in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070323 | 237 | Q → K in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_011717 | 245 | I → N. Corresponds to variant dbSNP:rs1804508Ensembl. | 1 | |
Natural variantiVAR_075239 | 245 | I → V in HHT2; no loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately; affects splicing by inducing the creation of a new donor splice site and the loss of the 3' end of exon 6. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026793 | 254 | Missing in HHT2; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070324 | 260 | I → L in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070325 | 265 | T → P in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070326 | 277 | T → K Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070327 | 280 | H → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026794 | 285 | L → F in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070328 | 289 | L → P in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070329 | 294 | L → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026795 | 306 | A → P in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075240 | 313 | L → V in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026796 | 314 | H → Y in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070330 | 328 | H → Q in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006210 | 333 | S → I in HHT2; retained in the endoplasmic reticulum. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070331 | 335 | N → H in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026797 | 337 | L → P in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070332 | 342 | L → P1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070333 | 344 | C → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026798 | 344 | C → Y in HHT2; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070334 | 347 | A → D in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026799 | 347 | A → P in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026800 | 374 | R → Q in HHT2; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006211 | 374 | R → W in HHT2. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_006212 | 376 | M → R in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026801 | 376 | M → V in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026802 | 378 | P → L in HHT2; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_070335 | 378 | P → S in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_075241 | 379 | E → D in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026803 | 379 | E → K in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_079587 | 396 | T → A Found in patients with pulmonary arterial hypertension; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026804 | 397 | D → G in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026805 | 398 | I → N in HHT2. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_026806 |