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    acvrl1 activin A receptor like type 1 [ Danio rerio (zebrafish) ]

    Gene ID: 266753, updated on 9-Dec-2024

    Summary

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    Official Symbol
    acvrl1provided by ZNC
    Official Full Name
    activin A receptor like type 1provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-021003-1
    See related
    Ensembl:ENSDARG00000018179 AllianceGenome:ZFIN:ZDB-GENE-021003-1
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    vgb; alk1; zehn1109; hm:zehn1109
    Summary
    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). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See acvrl1 in Genome Data Viewer
    Location:
    chromosome: 23
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 23 NC_007134.7 (27835639..27857096, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 23 NC_007134.6 (27909112..27930559, complement)

    Chromosome 23 - NC_007134.7Genomic Context describing neighboring genes Neighboring gene lysine (K)-specific methyltransferase 2D Neighboring gene activin A receptor type 1Ba Neighboring gene ankyrin repeat domain 33Aa Neighboring gene Rho guanine nucleotide exchange factor (GEF) 25a

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis. van den Driesche S, et al. Cardiovasc Res, 2003 Apr 1. PMID 12667943
    2. BMP signaling modulation attenuates cerebral arteriovenous malformation formation in a vertebrate model. Walcott BP. J Cereb Blood Flow Metab, 2014 Oct. PMID 25052553, Free PMC Article
    3. Regulation of tooth development by the novel type I TGFbeta family member receptor Alk8. Payne TL, et al. J Dent Res, 2001 Nov. PMID 11759004
    4. Dynamic analysis of BMP-responsive smad activity in live zebrafish embryos. Laux DW, et al. Dev Dyn, 2011 Mar. PMID 21337466, Free PMC Article
    5. Disruption of acvrl1 increases endothelial cell number in zebrafish cranial vessels. Roman BL, et al. Development, 2002 Jun. PMID 12050147

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BMP10-mediated ALK1 signaling is continuously required for vascular development and maintenance.
      Title: BMP10-mediated ALK1 signaling is continuously required for vascular development and maintenance.
    2. alk1 loss has no effect on arterial endothelial cell proliferation but alters arterial endothelial cell migration within lumenized vessels.
      Title: Alk1 controls arterial endothelial cell migration in lumenized vessels.
    3. Control of Notch targets in arterial endothelium is context-dependent, with gene-specific and region-specific requirements for Notch and Alk1
      Title: Context-specific interactions between Notch and ALK1 cannot explain ALK1-associated arteriovenous malformations.
    4. Blood flow is required not only for alk1 expression but also for Alk1 activity.
      Title: Circulating Bmp10 acts through endothelial Alk1 to mediate flow-dependent arterial quiescence.
    5. Study demonstrate that alk1 expression requires blood flow, and despite normal levels of shear stress, some flow-responsive genes are dysregulated in alk1 mutant arterial endothelial cells.
      Title: Interaction between alk1 and blood flow in the development of arteriovenous malformations.
    6. vbg encodes activin receptor-like kinase 1 (acvrl1), a TGFbeta type I receptor that is expressed predominantly in the endothelium of the vessels that become dilated in vbg mutants.
      Title: Disruption of acvrl1 increases endothelial cell number in zebrafish cranial vessels.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmembrane receptor protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within artery development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within artery development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within artery morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within blood vessel diameter maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within blood vessel endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within blood vessel morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cell surface receptor protein serine/threonine kinase signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within determination of ventral identity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within response to fluid shear stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    serine/threonine-protein kinase receptor R3
    Names
    activin A receptor type II-like 1
    activin receptor-like kinase 1
    vbg
    violet beauregarde
    NP_705929.1
    XP_009295079.1
    XP_021325397.1
    XP_021325399.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_153643.1 → NP_705929.1  serine/threonine-protein kinase receptor R3 precursor

      See identical proteins and their annotated locations for NP_705929.1

      Status: PROVISIONAL

      Source sequence(s)
      AF435024
      UniProtKB/TrEMBL
      Q78BG9, Q8JFB0
      Related
      ENSDARP00000043461.5, ENSDART00000043462.7
      Conserved Domains (3) summary
      pfam07714
      Location:194 → 481
      Pkinase_Tyr; Protein tyrosine kinase
      pfam08515
      Location:165 → 192
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
      cl21453
      Location:188 → 485
      PKc_like; Protein Kinases, catalytic domain

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007134.7 Reference GRCz11 Primary Assembly

      Range
      27835639..27857096 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_021469724.2 → XP_021325399.1  serine/threonine-protein kinase receptor R3 isoform X3

      UniProtKB/TrEMBL
      A0A8M9PKJ3
      Related
      ENSDARP00000123002.1, ENSDART00000137861.2
      Conserved Domains (2) summary
      pfam08515
      Location:168 → 195
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
      cl21453
      Location:191 → 488
      PKc_like; Protein Kinases, catalytic domain

    2. XM_021469722.2 → XP_021325397.1  serine/threonine-protein kinase receptor R3 isoform X1

      UniProtKB/TrEMBL
      A0A8M9P4Z5
      Conserved Domains (2) summary
      pfam08515
      Location:173 → 200
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
      cl21453
      Location:196 → 493
      PKc_like; Protein Kinases, catalytic domain

    3. XM_009296804.4 → XP_009295079.1  serine/threonine-protein kinase receptor R3 isoform X2

      See identical proteins and their annotated locations for XP_009295079.1

      UniProtKB/TrEMBL
      A0A8M3B616
      Conserved Domains (3) summary
      pfam07714
      Location:199 → 486
      Pkinase_Tyr; Protein tyrosine kinase
      pfam08515
      Location:170 → 197
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
      cl21453
      Location:193 → 490
      PKc_like; Protein Kinases, catalytic domain
    Nucleotide Protein Strain
    Heading Accession and Version

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