Gene

acvrl1

ID
ZDB-GENE-021003-1
Name
activin A receptor like type 1
Symbol
acvrl1 Nomenclature History
Previous Names
  • vbg
  • alk1 (1)
  • hm:zehn1109 (1)
  • violet beauregarde
  • zehn1109
Type
protein_coding_gene
Location
Chr: 23 Mapping Details/Browsers
Description
Predicted to have SMAD binding activity and transforming growth factor beta receptor activity, type I. Involved in several processes, including artery morphogenesis; blood vessel endothelial cell migration; and determination of ventral identity. Predicted to localize to BMP receptor complex. Is expressed in blood vessel and cranial vasculature. 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
Expression
All Expression Data
9 figures from 7 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
25 figures from 10 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With acvrl1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hereditary hemorrhagic telangiectasia Alliance Telangiectasia, hereditary hemorrhagic, type 2 600376
Associated With acvrl1 Via Experimental Models
Gene Ontology
Protein Domains
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:Q8JFB0 499
UniProtKB:Q498X0 499
UniProtKB:F1QH44 502
Transcripts
Genome Browsers
Interactions and Pathways
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
AB1-acvr1l polyclonal Rabbit
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations