ACVR1 Gene Summary [Human]
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ACVR1 |
| Official Name | activin A receptor type 1 [Source:HGNC Symbol;Acc:HGNC:171] |
| Ensembl ID | ENSG00000115170 |
| Bio databases IDs | |
| Aliases | activin A receptor type 1 |
| Synonyms | Activin A Receptor, activin A receptor type 1, activin A receptor, type 1, ACTR1, ACTRI, ActRIA, Acvr, ACVR1A, ACVRLK2, ALK2, Alk8, D330013D15Rik, FOP, SKR1, Tsk7L, TSRI |
| Species | Human, Homo sapiens |
| 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 human ACVR1 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
- TGFbeta binding
- Protein kinase domain
- transmembrane receptor protein serine/threonine kinase
- cytoplasmic domain
- intracellular domain
- cadherin binding
- TFP
- Tyrosine kinase, catalytic domain
- growth factor binding
- transmembrane receptor
- extracellular domain
- Protein kinase (unclassified specificity)
- protein kinase binding
- Protein tyrosine and serine/threonine kinase
- 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
- transmembrane domain
- protein homodimerization
- Transforming growth factor beta type I GS-motif
- glycine serine rich domain
Pathways
Biological processes and signaling networks where the ACVR1 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Adipogenesis pathway
- BMP signaling pathway
- Cardiomyocyte Differentiation via BMP Receptors
- Cellular Effects of Sildenafil (Viagra)
- Epithelial Adherens Junction Signaling
- Factors Promoting Cardiogenesis in Vertebrates
- FAK Signaling
- GADD45 Signaling
- Human Embryonic Stem Cell Pluripotency
- Molecular Mechanisms of Cancer
- Neuroinflammation Signaling Pathway
- PPARα/RXRα Activation
- RAR Activation
- Role of NANOG in Mammalian Embryonic Stem Cell Pluripotency
- Role of Osteoblasts, Osteoclasts and Chondrocytes in Rheumatoid Arthritis
- Role of Tissue Factor in Cancer
- TGF-β Signaling
- Th1 and Th2 Activation Pathway
- Th2 Pathway
- Transcriptional Regulatory Network in Embryonic Stem Cells
- WNT/β-catenin Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- myelofibrosis
- post essential thrombocythemia myelofibrosis
- progressive myositis ossificans
- Waldenström macroglobulinemia
- primary myelofibrosis
- abnormal endochondral bone formation
- post polycythemia vera myelofibrosis
- iron overload
- diffuse systemic sclerosis
role in cell
- expression in
- phosphorylation in
- proliferation
- binding in
- differentiation
- signaling in
- invasion by
- activation in
- migration
- development
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
- Cytoplasm
- cell surface
- apical compartment
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACVR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transforming growth factor beta receptor signaling pathway
- endocardial cushion formation
- cardiac muscle cell fate commitment
- endocardial cushion fusion
- protein phosphorylation
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of osteoblast differentiation
- dorsal/ventral pattern formation
- activin receptor signaling pathway
- outflow tract septum morphogenesis
- heart development
- smooth muscle cell differentiation
- negative regulation of signal transduction
- in utero embryonic development
- patterning of blood vessels
- positive regulation of transcription, DNA-dependent
- cellular response to BMP stimulus
- BMP signaling pathway
- negative regulation of activin receptor signaling pathway
- gastrulation with mouth forming second
- negative regulation of G1/S transition of mitotic cell cycle
- positive regulation of SMAD protein import into nucleus
- mesoderm formation
- positive regulation of determination of dorsal identity
- positive regulation of peptidyl-tyrosine phosphorylation
- positive regulation of bone mineralization
- germ cell development
- atrioventricular valve morphogenesis
- mitral valve morphogenesis
- embryonic heart tube morphogenesis
- endocardial cushion cell fate commitment
- pharyngeal system development
- ventricular septum morphogenesis
- atrial septum primum morphogenesis
- determination of left/right symmetry
- neural crest cell migration
- acute inflammatory response
- cellular response to growth factor stimulus
- negative regulation of extrinsic apoptotic signaling pathway
- regulation of ossification
- positive regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- apical part of cell
- activin receptor complex
- BMP receptor complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- protein kinase 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
- activin binding
- protein binding
- SMAD binding
- metal ion binding
- cadherin binding
- activin receptor activity, type I
- peptide hormone binding