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 enable SMAD binding activity and transforming growth factor beta receptor activity, type I. 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 part of BMP receptor complex. Predicted to be active in plasma membrane. 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

Expression

All Expression Data

15 figures from 8 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

eu653 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 26 figures from 11 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

Human Disease	Fish	Conditions	Citations
arteriovenous malformation	WT + MO3-acvrl1	standard conditions	Walcott, 2014

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
Homologous_superfamily	IPR045860	Snake toxin-like superfamily