ZFIN ID: ZDB-GENE-021003-1
Gene Name: activin A receptor like type 1
Gene Symbol: acvrl1    Nomenclature History

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Previous Names: vbg, alk1 (1), hm:zehn1109 (1), violet beauregarde, zehn1109

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 23 Mapping Details/Browsers
Description: Predicted to have 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: Alliance (1),  Gene:266753 (1),  Ensembl(GRCz11):ENSDARG00000018179 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
ft09e Point Mutation Unknown Premature Stop ENU
s407 Point Mutation Intron 8 Unknown ENU
y6 Point Mutation Unknown Missense ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-acvrl1
    2
    CRISPR2-acvrl1
    2
    MO1-acvrl1 N/A 3
    MO2-acvrl1 N/A 3
    MO3-acvrl1 N/A 7
    PHENOTYPE
    Data: 23 figures from 9 publications
    Observed in:
    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
    DISEASE ASSOCIATED WITH acvrl1 VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    arteriovenous malformation WT + MO3-acvrl1 standard conditions Walcott, 2014
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process determination of ventral identity (more)
    Cellular Component integral component of membrane (more)
    Molecular Function ATP binding (more)
    GO Terms (all 32)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA acvrl1-201 (1)    Ensembl 2794
    acvrl1-202 (1)    Ensembl 2321
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    SignaFish
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    AB1-acvr1l polyclonal Rabbit 2
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM acvrl1
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(fli1:acvrl1-MYC) fli1 acvrl1 Danio rerio 1 3
    MARKER RELATIONSHIPS
    acvrl1 Contained in: [BAC] CH211-169D8 (1)
    acvrl1 Encodes: [EST] eu653 (1), zehn1109 (1)
    [cDNA] MGC:111915 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_153643 (1) 2674 nt
    Genomic GenBank:CR387931 (1) 144701 nt
    Select Tool
    Polypeptide UniProtKB:F1QH44 (1) 502 aa
    Sequence Information (all 26)
    ORTHOLOGY for acvrl1 ( Chr: 23 )
    CITATIONS (58)