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ACVRL1

This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2.
Full Name
Activin A Receptor Like Type 1
Function
Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well.
Biological Process
Angiogenesis
Artery development
Blood circulation
Blood vessel endothelial cell proliferation involved in sprouting angiogenesis
Blood vessel maturation
Blood vessel remodeling
BMP signaling pathway
Cellular response to BMP stimulus
Cellular response to growth factor stimulus
Cellular response to transforming growth factor beta stimulus
Dorsal/ventral pattern formation
Dorsal aorta morphogenesis
Endocardial cushion morphogenesis
Endothelial tube morphogenesis
Heart development
Lymphangiogenesis
Lymphatic endothelial cell differentiation
Negative regulation of blood vessel endothelial cell migration
Negative regulation of cell adhesion
Negative regulation of cell growth
Negative regulation of cell migration
Negative regulation of cell population proliferation
Negative regulation of DNA biosynthetic process
Negative regulation of endothelial cell migration
Negative regulation of focal adhesion assembly
Negative regulation of gene expression
Positive regulation of BMP signaling pathway
Positive regulation of chondrocyte differentiation
Positive regulation of pathway-restricted SMAD protein phosphorylation
Positive regulation of transcription, DNA-templated
Positive regulation of transcription by RNA polymerase II
Protein phosphorylation
Regulation of blood pressure
Regulation of blood vessel endothelial cell migration
Regulation of DNA replication
Regulation of endothelial cell proliferation
Regulation of transcription, DNA-templated
Retina vasculature development in camera-type eye
Signal transduction
Transforming growth factor beta receptor signaling pathway
Venous blood vessel development
Wound healing, spreading of epidermal cells
Cellular Location
Cell membrane
Involvement in disease
Telangiectasia, 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.
Topology
Extracellular: 22-118 aa
Helical: 119-141 aa
Cytoplasmic: 142-503 aa

Anti-ACVRL1 antibodies

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Target: ACVRL1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: V2-179704
Application*: WB, FC
Target: ACVRL1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: V2-179703
Application*: WB, IP
Target: ACVRL1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: V2-179700
Application*: E, WB
Target: ACVRL1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: V2-179698
Application*: E
Target: ACVRL1
Host: Rat
Antibody Isotype: IgG2
Specificity: Mouse
Clone: V2-179697
Application*: IH, WB
Target: ACVRL1
Host: Mouse
Antibody Isotype: IgG2
Specificity: Human
Clone: V2-12519
Application*: IH, WB
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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