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

    Gene ID: 94, updated on 21-Jan-2018
    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; Vega:OTTHUMG00000169507
    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
    Location:
    12q13.13
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (51906913..51923361)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52300657..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 general receptor for phosphoinositides 1 associated scaffold protein

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hereditary hemorrhagic telangiectasia 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

    NHGRI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    BMP signaling pathway TAS
    Traceable Author Statement
    more info
     
    activin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    artery development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    blood circulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    blood vessel endothelial cell proliferation involved in sprouting angiogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    blood vessel maturation TAS
    Traceable Author Statement
    more info
    PubMed 
    blood vessel remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to BMP stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to transforming growth factor beta stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dorsal aorta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT endocardial cushion to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endothelial tube morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    lymphangiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lymphatic endothelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of DNA biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of blood vessel endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of chondrocyte differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of pathway-restricted SMAD protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein heterooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of DNA replication TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of blood pressure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of blood vessel endothelial cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of endothelial cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    retina vasculature development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transduction by protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    venous blood vessel development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    wound healing, spreading of epidermal cells IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    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

    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_000020.2NP_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, OTTHUMP00000241377, ENST00000388922.8, OTTHUMT00000404520
      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_001077401.1NP_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, OTTHUMP00000241379, ENST00000550683.5, OTTHUMT00000404523
      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 Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 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

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      52267590..52283516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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