Gene
acvrl1
- ID
- ZDB-GENE-021003-1
- Name
- activin A receptor like type 1
- Symbol
- acvrl1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Is predicted to enable SMAD binding activity and transforming growth factor beta receptor activity, type I. Involved in several processes, including circulatory system development; protein phosphorylation; and transmembrane receptor protein serine/threonine kinase signaling pathway. Acts upstream of or within several processes, including artery morphogenesis; blood vessel endothelial cell migration; and determination of ventral identity. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be part of BMP receptor complex. Is expressed in cardiovascular system and liver. Used to study arteriovenous malformation. Human ortholog(s) of this gene implicated in hereditary hemorrhagic telangiectasia and pulmonary hypertension. Orthologous to human ACVRL1 (activin A receptor like type 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu653 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 25 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary hemorrhagic telangiectasia | Alliance | Telangiectasia, hereditary hemorrhagic, type 2 | 600376 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| arteriovenous malformation | WT + MO3-acvrl1 | standard conditions | Walcott, 2014 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008271 | Serine/threonine-protein kinase, active site |
| Binding_site | IPR017441 | Protein kinase, ATP binding site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
| Domain | IPR003605 | GS domain |
| Family | IPR000333 | Ser/Thr protein kinase, TGFB receptor |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
Domain Details Per Protein
| Protein | Length | GS domain | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine/threonine-protein kinase, active site | Serine-threonine/tyrosine-protein kinase, catalytic domain | Ser/Thr protein kinase, TGFB receptor |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QH44
|
502 | |||||||
|
UniProtKB:Q498X0
|
499 | |||||||
|
UniProtKB:Q8JFB0
|
499 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
acvrl1-201
(1)
|
2794 nt | |
| mRNA |
acvrl1-202
(1)
|
2321 nt |
Interactions and Pathways
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| AB1-acvr1l | polyclonal | Rabbit |
|
2 |
Plasmids
No data available