Entity Details

Primary name ACVL1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP37023
EntryNameACVL1_HUMAN
FullNameSerine/threonine-protein kinase receptor R3
TaxID9606
Evidenceevidence at protein level
Length503
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesACVRL1

GO terms

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GOName
GO:0001525 angiogenesis
GO:0001936 regulation of endothelial cell proliferation
GO:0001946 lymphangiogenesis
GO:0001955 blood vessel maturation
GO:0001974 blood vessel remodeling
GO:0002043 blood vessel endothelial cell proliferation involved in sprouting angiogenesis
GO:0003203 endocardial cushion morphogenesis
GO:0004674 protein serine/threonine kinase activity
GO:0004675 transmembrane receptor protein serine/threonine kinase activity
GO:0005024 transforming growth factor beta-activated receptor activity
GO:0005025 transforming growth factor beta receptor activity, type I
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006275 regulation of DNA replication
GO:0006355 regulation of transcription, DNA-templated
GO:0006468 protein phosphorylation
GO:0007162 negative regulation of cell adhesion
GO:0007165 signal transduction
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007507 heart development
GO:0008015 blood circulation
GO:0008217 regulation of blood pressure
GO:0008285 negative regulation of cell population proliferation
GO:0009953 dorsal/ventral pattern formation
GO:0009986 cell surface
GO:0010596 negative regulation of endothelial cell migration
GO:0010629 negative regulation of gene expression
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0016361 activin receptor activity, type I
GO:0019901 protein kinase binding
GO:0030308 negative regulation of cell growth
GO:0030336 negative regulation of cell migration
GO:0030509 BMP signaling pathway
GO:0030513 positive regulation of BMP signaling pathway
GO:0032332 positive regulation of chondrocyte differentiation
GO:0035313 wound healing, spreading of epidermal cells
GO:0035912 dorsal aorta morphogenesis
GO:0043235 receptor complex
GO:0043535 regulation of blood vessel endothelial cell migration
GO:0043537 negative regulation of blood vessel endothelial cell migration
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046332 SMAD binding
GO:0046872 metal ion binding
GO:0048185 activin binding
GO:0050431 transforming growth factor beta binding
GO:0051895 negative regulation of focal adhesion assembly
GO:0060836 lymphatic endothelial cell differentiation
GO:0060840 artery development
GO:0060841 venous blood vessel development
GO:0061154 endothelial tube morphogenesis
GO:0061298 retina vasculature development in camera-type eye
GO:0070724 BMP receptor complex
GO:0071363 cellular response to growth factor stimulus
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:0071773 cellular response to BMP stimulus
GO:0098821 BMP receptor activity
GO:2000279 negative regulation of DNA biosynthetic process

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR000333 Ser/Thr protein kinase, TGFB receptorFamilyFamily
IPR000719 Protein kinase domainDomainDomain
IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domainDomainDomain
IPR003605 GS domainDomainDomain
IPR008271 Serine/threonine-protein kinase, active siteSiteActive site
IPR011009 Protein kinase-like domain superfamilyFamilyHomologous superfamily
IPR017441 Protein kinase, ATP binding siteSiteBinding site

Diseases

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Disease IDSourceNameDescription
600376 OMIMTelangiectasia, hereditary hemorrhagic, 2 (HHT2)A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00171 ATPDrugbanksmall molecule