Version: 8.0.0Date: Tue Jan 28 2025
Gene
ACVR1
- Species
- Homo sapiens
- Symbol
- ACVR1
- Name
- activin A receptor type 1
- Synonyms
- activin A receptor type I
- activin A receptor, type I
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including ATP binding activity; BMP receptor activity; and activin binding activity. Contributes to activin receptor activity, type I. Involved in several processes, including heart development; regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and transforming growth factor beta receptor superfamily signaling pathway. Located in plasma membrane. Part of activin receptor complex. Implicated in exfoliation syndrome; fibrodysplasia ossificans progressiva; primary angle-closure glaucoma; and primary open angle glaucoma. Biomarker of pancreatic cancer and severe pre-eclampsia.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR23255
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr2:157736251...157876330 - (140.08 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.