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

    Gene ID: 94, updated on 19-Sep-2024

    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; AllianceGenome:HGNC:175
    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:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (51906944..51923361)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (51870516..51886934)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52300728..52317145)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene filamin-B-like Neighboring gene ankyrin repeat domain 33 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52301449-52301957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52307107-52307940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52308586-52309472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52311731-52312303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52317635-52318466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52334596-52335170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52335171-52335745 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:52345261-52345880 Neighboring gene activin A receptor type 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6387 Neighboring gene RNA, U6 small nuclear 574, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52399414-52400100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4478 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 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

    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

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables BMP receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables BMP receptor activity IGI
    Inferred from Genetic Interaction
    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
     
    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 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transforming growth factor beta receptor activity, type I IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transforming growth factor beta receptor activity, type I 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
     
    involved_in BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in BMP signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in BMP signaling pathway TAS
    Traceable Author Statement
    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
     
    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 cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    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
     
    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
     
    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
     
    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 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 DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of positive regulation of Notch signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of SMAD protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of bicellular tight junction assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    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
     
    acts_upstream_of positive regulation of epithelial cell differentiation IGI
    Inferred from Genetic Interaction
    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 protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA replication TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    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 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
     
    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
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    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
    NP_001393416.1
    NP_001393417.1
    NP_001393418.1
    NP_001393419.1
    NP_001393420.1
    NP_001393421.1
    NP_001393422.1
    NP_001393423.1
    NP_001393424.1
    XP_047285857.1

    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 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000011.2

      Status: REVIEWED

      Source sequence(s)
      AC025259, DN999570, Z22533
      Consensus CDS
      CCDS31804.1
      UniProtKB/Swiss-Prot
      A6NGA8, 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 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001070869.1

      Status: REVIEWED

      Source sequence(s)
      AC025259, BC042637
      Consensus CDS
      CCDS31804.1
      UniProtKB/Swiss-Prot
      A6NGA8, 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
    3. NM_001406487.1NP_001393416.1  serine/threonine-protein kinase receptor R3 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259
      Consensus CDS
      CCDS31804.1
      UniProtKB/Swiss-Prot
      A6NGA8, P37023
      UniProtKB/TrEMBL
      A0A0S2Z310
      Related
      ENSP00000455848.2, ENST00000551576.6
    4. NM_001406488.1NP_001393417.1  serine/threonine-protein kinase receptor R3 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259
      UniProtKB/TrEMBL
      H3BTZ2
      Related
      ENSP00000457394.2, ENST00000552678.2
    5. NM_001406489.1NP_001393418.1  serine/threonine-protein kinase receptor R3 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259
      UniProtKB/TrEMBL
      H3BTZ2
    6. NM_001406490.1NP_001393419.1  serine/threonine-protein kinase receptor R3 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259
    7. NM_001406491.1NP_001393420.1  serine/threonine-protein kinase receptor R3 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259
      UniProtKB/TrEMBL
      A0A0S2Z2Y4
    8. NM_001406492.1NP_001393421.1  serine/threonine-protein kinase receptor R3 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259
      UniProtKB/TrEMBL
      A0A0S2Z2Y4
      Related
      ENSP00000446724.2, ENST00000547400.6
    9. NM_001406493.1NP_001393422.1  serine/threonine-protein kinase receptor R3 isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259
    10. NM_001406494.1NP_001393423.1  serine/threonine-protein kinase receptor R3 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259
    11. NM_001406495.1NP_001393424.1  serine/threonine-protein kinase receptor R3 isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259
      UniProtKB/TrEMBL
      E7EN07
      Related
      ENSP00000392492.2, ENST00000419526.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      51906944..51923361
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429901.1XP_047285857.1  serine/threonine-protein kinase receptor R3 isoform X1

      UniProtKB/Swiss-Prot
      A6NGA8, P37023
      UniProtKB/TrEMBL
      A0A0S2Z310

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      51870516..51886934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)