Acvrl1 Gene Summary [Mouse]
Predicted to enable several functions, including ATP binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in several processes, including circulatory system development; regulation of endothelial cell differentiation; and regulation of endothelial cell proliferation. Acts upstream of or within several processes, including angiogenesis; positive regulation of angiogenesis; and transforming growth factor beta receptor superfamily signaling pathway. Predicted to be located in cell surface; dendrite; and neuronal cell body. Predicted to be part of BMP receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and immune system. Used to study arteriovenous malformations of the brain; hereditary hemorrhagic telangiectasia; and obstructive nephropathy. Human ortholog(s) of this gene implicated in hereditary hemorrhagic telangiectasia and pulmonary hypertension. Orthologous to human ACVRL1 (activin A receptor like type 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Acvrl1 |
| Official Name | activin A receptor, type II-like 1 [Source:MGI Symbol;Acc:MGI:1338946] |
| Ensembl ID | ENSMUSG00000000530 |
| Bio databases IDs | |
| Aliases | activin A receptor, type II-like 1 |
| Synonyms | activin A receptor like type 1, activin A receptor, type II-like 1, ACVRLK1, AI115505, AI427544, ALK-1, HHT, HHT2, ORW2, R-3, SETHKIR, SKR3, TSR-I |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Acvrl1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMAD binding
- protein serine/threonine kinase
- protein kinase
- Activin types I and II receptor domain
- ATP-binding domain
- ATP binding
- TGFbeta binding
- Protein kinase domain
- transforming growth factor-beta receptor
- transmembrane receptor protein serine/threonine kinase
- cytoplasmic domain
- TFP
- Tyrosine kinase, catalytic domain
- extracellular domain
- Protein kinase (unclassified specificity)
- protein kinase binding
- Protein tyrosine and serine/threonine kinase
- ectodomain
- activin binding
- protein binding
- kinase
- Serine/Threonine protein kinases, catalytic domain
- kinase domain
- type I activin receptor
- Protein Kinases, catalytic domain
- type I transforming growth factor-beta receptor
- Transforming growth factor beta type I GS-motif
- gly-ser repeat
Pathways
Biological processes and signaling networks where the Acvrl1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
- Adipogenesis pathway
- BMP signaling pathway
- Cardiomyocyte Differentiation via BMP Receptors
- Factors Promoting Cardiogenesis in Vertebrates
- Human Embryonic Stem Cell Pluripotency
- Molecular Mechanisms of Cancer
- Osteoarthritis Pathway
- Role of NANOG in Mammalian Embryonic Stem Cell Pluripotency
- Role of Osteoblasts, Osteoclasts and Chondrocytes in Rheumatoid Arthritis
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- diffuse large B-cell lymphoma
- bleeding
- hereditary hemorrhagic telangiectasia type 2
- primary pulmonary hypertension 1
- coronary artery disease
- hereditary hemorrhagic telangiectasia-related pulmonary arterial hypertension
- hereditary hemorrhagic telangiectasia
- arteriovenous malformation
- Huntington disease
role in cell
- phosphorylation in
- expression in
- cell death
- signaling in
- activation in
- proliferation
- cell viability
- migration
- apoptosis
- recruitment
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cytoskeleton
- cell surface
- cellular membrane
- vesicles
- rough endoplasmatic reticulum
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Acvrl1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retina vasculature development in camera-type eye
- transforming growth factor beta receptor signaling pathway
- blood vessel endothelial cell proliferation involved in sprouting angiogenesis
- positive regulation of endothelial cell differentiation
- artery development
- venous blood vessel development
- positive regulation of angiogenesis
- negative regulation of endothelial cell differentiation
- dorsal/ventral pattern formation
- endocardial cushion morphogenesis
- activin receptor signaling pathway
- response to hypoxia
- positive regulation of transcription, DNA-dependent
- negative regulation of cell growth
- cellular response to BMP stimulus
- in utero embryonic development
- BMP signaling pathway
- lymphangiogenesis
- dorsal aorta morphogenesis
- wound healing, spreading of epidermal cells
- lymphatic endothelial cell differentiation
- negative regulation of focal adhesion assembly
- cellular response to transforming growth factor beta stimulus
- negative regulation of gene expression
- positive regulation of epithelial cell differentiation
- cellular response to growth factor stimulus
- blood vessel maturation
- negative regulation of cell migration
- negative regulation of cell proliferation
- endothelial tube morphogenesis
- protein phosphorylation
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of Notch signaling pathway
- heart development
- angiogenesis
- positive regulation of SMAD protein import into nucleus
- negative regulation of endothelial cell migration
- negative regulation of blood vessel endothelial cell migration
- signal transduction
- negative regulation of cell adhesion
- blood circulation
- regulation of transcription, DNA-dependent
- regulation of DNA replication
- regulation of blood pressure
- regulation of blood vessel endothelial cell migration
- positive regulation of BMP signaling pathway
- blood vessel remodeling
- regulation of endothelial cell proliferation
- negative regulation of endothelial cell proliferation
- positive regulation of endothelial cell proliferation
- positive regulation of chondrocyte differentiation
Cellular Component
Where in the cell the gene product is active
- dendrite
- neuronal cell body
- BMP receptor complex
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- transforming growth factor beta-activated receptor activity
- protein serine/threonine kinase activity
- transforming growth factor beta receptor activity, type I
- transmembrane receptor protein serine/threonine kinase activity
- transforming growth factor beta binding
- ATP binding
- protein binding
- activin binding
- SMAD binding
- metal ion binding
- activin receptor activity, type I