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    ACVRL1 activin A receptor like type 1 [ Homo sapiens (human) ]

    Gene ID: 94, updated on 19-Jul-2021

    Summary

    Official Symbol
    ACVRL1provided by HGNC
    Official Full Name
    activin A receptor like type 1provided by HGNC
    Primary source
    HGNC:HGNC:175
    See related
    Ensembl:ENSG00000139567 MIM:601284
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HHT; ALK1; HHT2; ORW2; SKR3; ALK-1; TSR-I; ACVRLK1
    Summary
    This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in placenta (RPKM 37.6), lung (RPKM 28.7) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ACVRL1 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (51906913..51923361)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52301288..52317145)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene filamin-B-like Neighboring gene ankyrin repeat domain 33 Neighboring gene activin A receptor type 1B Neighboring gene RNA, U6 small nuclear 574, pseudogene Neighboring gene TAMALIN antisense RNA 1 Neighboring gene trafficking regulator and scaffold protein tamalin

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    GeneReviews: Not available
    Telangiectasia, hereditary hemorrhagic, type 2 Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2016-11-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2016-11-10)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables BMP receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables SMAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables activin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables activin receptor activity, type I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta receptor activity, type I IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transforming growth factor beta receptor activity, type I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transforming growth factor beta-activated receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane receptor protein serine/threonine kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in activin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in artery development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in blood circulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in blood vessel endothelial cell proliferation involved in sprouting angiogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in blood vessel maturation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in blood vessel remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to BMP stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to transforming growth factor beta stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in dorsal aorta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dorsal/ventral pattern formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT involved_in endocardial cushion to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endothelial tube morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lymphangiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lymphatic endothelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of DNA biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of blood vessel endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of chondrocyte differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA replication TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of blood pressure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of blood vessel endothelial cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of endothelial cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina vasculature development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in venous blood vessel development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in wound healing, spreading of epidermal cells IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of BMP receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    serine/threonine-protein kinase receptor R3
    Names
    TGF-B superfamily receptor type I
    activin A receptor type II-like 1
    activin A receptor type IL
    activin A receptor, type II-like kinase 1
    NP_000011.2
    NP_001070869.1
    XP_005269292.1
    XP_011537310.1
    XP_024305047.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_009549.1 RefSeqGene

      Range
      5001..20944
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_543

    mRNA and Protein(s)

    1. NM_000020.3NP_000011.2  serine/threonine-protein kinase receptor R3 precursor

      See identical proteins and their annotated locations for NP_000011.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC025259, DN999570, Z22533
      Consensus CDS
      CCDS31804.1
      UniProtKB/Swiss-Prot
      P37023
      UniProtKB/TrEMBL
      A0A0S2Z310
      Related
      ENSP00000373574.4, ENST00000388922.9
      Conserved Domains (2) summary
      cd14142
      Location:196493
      STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
      pfam08515
      Location:173200
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    2. NM_001077401.2NP_001070869.1  serine/threonine-protein kinase receptor R3 precursor

      See identical proteins and their annotated locations for NP_001070869.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform. This variant contains an upstream in-frame start codon, but this upstream start codon is poorly conserved and would result in a protein that is 14 aa longer at the N-terminus and lacks a predicted signal peptide. The downstream translational start codon, as used in variant 1, is selected for this RefSeq based on its better conservation in mammalian species and on the presence of a predicted signal peptide in the protein N-terminus. Leaky scanning by ribosomes may allow translation initiation at the downstream start codon.
      Source sequence(s)
      AC025259, BC042637
      Consensus CDS
      CCDS31804.1
      UniProtKB/Swiss-Prot
      P37023
      UniProtKB/TrEMBL
      A0A0S2Z310
      Related
      ENSP00000447884.1, ENST00000550683.5
      Conserved Domains (2) summary
      cd14142
      Location:196493
      STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
      pfam08515
      Location:173200
      TGF_beta_GS; Transforming growth factor beta type I GS-motif

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      51906913..51923361
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269235.2XP_005269292.1  serine/threonine-protein kinase receptor R3 isoform X1

      See identical proteins and their annotated locations for XP_005269292.1

      UniProtKB/Swiss-Prot
      P37023
      UniProtKB/TrEMBL
      A0A0S2Z310
      Conserved Domains (2) summary
      cd14142
      Location:196493
      STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
      pfam08515
      Location:173200
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    2. XM_011539008.1XP_011537310.1  serine/threonine-protein kinase receptor R3 isoform X2

      See identical proteins and their annotated locations for XP_011537310.1

      Conserved Domains (2) summary
      cd14142
      Location:119403
      STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
      pfam07714
      Location:119399
      Pkinase_Tyr; Protein tyrosine kinase
    3. XM_024449279.1XP_024305047.1  serine/threonine-protein kinase receptor R3 isoform X3

      Conserved Domains (1) summary
      cl21453
      Location:1230
      PKc_like; Protein Kinases, catalytic domain
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