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ACVRL1 Gene

protein-coding   GIFtS: 69
GCID: GC12P052300

Activin A Receptor Type II-Like 1


(Previous symbols: ACVRLK1, ORW2)
  See ACVRL1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Activin A Receptor Type II-Like 11 2     EC 2.7.11.303 8
ACVRLK11 2 3 5     HHT22 5
ALK12 3 5     HHT2
ORW21 2     Activin A Receptor, Type II-Like Kinase 12
ALK-12 3     Serine/Threonine-Protein Kinase Receptor R32
SKR32 3     Activin Receptor-Like Kinase 13
TSR-I2 3     EC 2.7.118
TGF-B Superfamily Receptor Type I2 3     

External Ids:    HGNC: 1751   Entrez Gene: 942   Ensembl: ENSG000001395677   OMIM: 6012845   UniProtKB: P370233   

Export aliases for ACVRL1 gene to outside databases

Previous GC identifers: GC12M052630 GC12P052332 GC12P052017 GC12P050587 GC12P049334


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACVRL1 Gene:
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)

GeneCards Summary for ACVRL1 Gene:
ACVRL1 (activin A receptor type II-like 1) is a protein-coding gene. Diseases associated with ACVRL1 include hereditary hemorrhagic telangiectasia type 2, and angiodysplasia. GO annotations related to this gene include protein serine/threonine kinase activity and SMAD binding. An important paralog of this gene is ACVR1C.

UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023
Function: Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood
vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I
transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which
autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well

Gene Wiki entry for ACVRL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACVRL1 gene promoter:
         c-Fos   STAT1   AP-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACVRL1 promoter sequence
   Search Chromatin IP Primers for ACVRL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACVRL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

ACVRL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACVRL1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P052300:  view genomic region     (about GC identifiers)

Start:
52,300,692 bp from pter      End:
52,317,145 bp from pter
Size:
16,454 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase receptor R3 precursor  
Size: 503 amino acids; 56124 Da
Cofactor: Magnesium or manganese (By similarity)
3 PDB 3D structures from and Proteopedia for ACVRL1:
2LCR (3D)        3MY0 (3D)        4FAO (3D)    
Secondary accessions: A6NGA8

Explore the universe of human proteins at neXtProt for ACVRL1: NX_P37023

Explore proteomics data for ACVRL1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn98
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACVRL1 (P37023) (see all 15)
     IADLGLA  YMAPEVL  KVVCVDQQ  RVGTKRYM 


    See ACVRL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000011.2  NP_001070869.1  

    ENSEMBL proteins: 
     ENSP00000455848   ENSP00000373574   ENSP00000446724   ENSP00000447884   ENSP00000392492  
     ENSP00000457394  

    ACVRL1 Human Recombinant Protein Products:

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    R&D Systems Recombinant & Natural Proteins for ACVRL1 (ALK-1)
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    OriGene Purified Protein for ACVRL1
    OriGene Protein Over-expression Lysate for ACVRL1
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    GenScript Custom Purified and Recombinant Proteins Services for ACVRL1
    Novus Biologicals ACVRL1 Proteins
    Novus Biologicals ACVRL1 Lysates
    Sino Biological Recombinant Protein for ACVRL1
    Sino Biological Cell Lysate for ACVRL1
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ACVRL1 

     
    antibodies-online proteins for ACVRL1 (10 products) 

     
    antibodies-online peptides for ACVRL1

    ACVRL1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACVRL1
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    antibodies-online antibodies for ACVRL1 (78 products) 

    ACVRL1 Assay Products:

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    antibodies-online kits for ACVRL1 (20 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: activin A receptor type II-like 1
    Type I receptor serine/threonine kinases
    Type I subfamily

    Selected InterPro protein domains (see all 7):
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR003605 TGF_beta_rcpt_GS
     IPR000472 Activin_rcpt

    Graphical View of Domain Structure for InterPro Entry P37023

    ProtoNet protein and cluster: P37023

    1 Blocks protein domain: IPB000472 Domain in TGF-beta receptor/activin receptor

    UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023
    Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily
    Similarity: Contains 1 GS domain
    Similarity: Contains 1 protein kinase domain


    Find genes that share domains with ACVRL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACVL1_HUMAN, P37023
    Function: Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood
    vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I
    transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which
    autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well
    Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

         Genatlas biochemistry entry for ACVRL1:
    activin A receptor,type II-like 1,homolog to ORW2

         Enzyme Numbers (IUBMB): EC 2.7.11.301 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA12065756
    GO:0004675transmembrane receptor protein serine/threonine kinase activity RCA8242742
    GO:0004702receptor signaling protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
         
    Find genes that share ontologies with ACVRL1           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for ACVRL1:
     Decreased Wnt reporter activit  Decreased substrate adherent c  Decreased viability with TRAIL  Increased apoptosis 
     Synthetic lethal with Ras 

         13 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Acvrl1):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  liver/biliary system  mortality/aging  muscle 
     nervous system  normal  respiratory system 

    Find genes that share phenotypes with ACVRL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ACVRL1: Acvrl1tm2.2Spo Acvrl1tm1Enl Acvrl1tm1Dyl

       genOway: Develop your customized and physiologically relevant rodent model for ACVRL1

    miRNA
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    Block miRNA regulation of human, mouse, rat ACVRL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACVRL1 (see all 24):
    hsa-miR-485-5p hsa-miR-193a-3p hsa-miR-3938 hsa-miR-330-5p hsa-miR-486-3p hsa-miR-181a-2* hsa-miR-1205 hsa-miR-637
    SwitchGear 3'UTR luciferase reporter plasmidACVRL1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat ACVRL1

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ACVRL1 (NM_000020)
    Sino Biological Human cDNA Clone for ACVRL1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACVRL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACVRL1
    Addgene plasmids for ACVRL1 

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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-13227) for ACVRL1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACVL1_HUMAN, P37023: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    cytoskeleton1
    cytosol1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane IDA8242742
    GO:0009986cell surface IDA8242742
    GO:0016020membrane ----
    GO:0030425dendrite IEA--
    GO:0043025neuronal cell body IEA--

    Find genes that share ontologies with ACVRL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACVRL1 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    2ALK1 signaling events
    ALK1 signaling events
    ALK1 pathway0.00
    3PAK Pathway
    Antioxidant Action of Vitamin-C0.56
    4ERK Signaling
    Molecular Mechanisms of Cancer0.51
    5PEDF Induced Signaling
    STAT3 Pathway0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for ACVRL1
        TGF-beta Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ACVRL1 (see all 7)
        BMP Pathway
    STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    p38 Signaling

    4 BioSystems Pathways for ACVRL1
        TGF-beta Receptor Signaling Pathway
    Id Signaling Pathway
    ALK1 signaling events
    ALK1 pathway

    1 Sino Biological Pathway for ACVRL1
        TGF-beta Signaling Pathway


        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACVRL1: 
              TGFB/BMP Signaling Pathway in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Stem Cell Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACVRL1

    Selected Interacting proteins for ACVRL1 (P370232, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFB1P011373I2D: score=4 
    TGFBR2P371733I2D: score=4 
    TGFBR1P368973I2D: score=3 
    ENGP178133I2D: score=2 
    SNX6Q9UNH73I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 45):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IMP16752392
    GO:0001701in utero embryonic development IEA--
    GO:0001936regulation of endothelial cell proliferation TAS--
    GO:0001937negative regulation of endothelial cell proliferation IEA--
    GO:0001938positive regulation of endothelial cell proliferation IEA--

    Find genes that share ontologies with ACVRL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACVRL1 (ACVL1)

    4 HMDB Compounds for ACVRL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--

    1 DrugBank Compound for ACVRL1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17139284 17016423

    6 Novoseek inferred chemical compound relationships for ACVRL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    [alcl] 71.3 9 12657933 (2), 10786813 (1), 17484779 (1), 12835569 (1) (see all 5)
    tgf beta1 48 7 17071858 (2), 16762882 (1), 19506300 (1), 16785228 (1) (see all 5)
    threonine 34.3 6 8397373 (1), 12700602 (1), 18159113 (1), 16785228 (1)
    vegf 27.8 22 19506300 (5), 18949376 (4), 15951295 (2), 18829861 (2) (see all 6)
    serine 14.9 6 12393874 (1), 8397373 (1), 12700602 (1), 18159113 (1)
    oligonucleotide 0 3 12384983 (2), 10899246 (1)



    Find genes that share compounds with ACVRL1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACVRL1 gene (2 alternative transcripts): 
    NM_000020.2  NM_001077401.1  

    Unigene Cluster for ACVRL1:

    Activin A receptor type II-like 1
    Hs.591026  [show with all ESTs]
    Unigene Representative Sequence: NM_000020
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000551576(uc021qxz.1) ENST00000388922 ENST00000547400 ENST00000550683(uc001rzj.3 uc001rzk.3 uc010snm.2)
    ENST00000419526 ENST00000552678 ENST00000547632 ENST00000550084
    miRNA
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    hsa-miR-485-5p hsa-miR-193a-3p hsa-miR-3938 hsa-miR-330-5p hsa-miR-486-3p hsa-miR-181a-2* hsa-miR-1205 hsa-miR-637
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    Additional mRNA sequence: 

    AK056725.1 AK298493.1 AK300619.1 AK303331.1 BC042637.1 L17075.1 Z22533.1 

    5 DOTS entries:

    DT.444614  DT.75104535  DT.452045  DT.95311383  DT.95163556 

    Selected AceView cDNA sequences (see all 160):

    AI659369 AW205372 BM726875 AI740840 AI672874 AA296280 AA913553 BM978185 
    AI804689 BM674882 BI523915 BU633341 AI973089 AA359616 CR599504 BU683521 
    BM712769 AA296201 BU739570 BX105121 AI417883 CD367529 CR596233 AI247327 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ACVRL1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10
    SP1:              -     -                                                                                 
    SP2:                                                                                                      
    SP3:              -     -                 -     -     -     -     -     -                                 
    SP4:                                            -     -                                                   


    ECgene alternative splicing isoforms for ACVRL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ACVRL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTAAATCCT
    ACVRL1 Expression
    About this image


    ACVRL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Arterial Endothelial Cells Paired Dorsal Aorta
             Human umbilical vein endothelial cells (HUVEC)
             Endothelial-like cells
     
     Primitive Streak (Early Embryo)
             Extraembryonic Mural Cells Extraembryonic Mesoderm
     
     NULL (Uncategorized)
             CD31, CD144 positive cells
     
     Extraembryonic Mesoderm (Extraembryonic Tissues)
             Extraembryonic Mural Cells Extraembryonic Mesoderm
     
     Epiblast (Early Embryo)
             Extraembryonic Mural Cells Extraembryonic Mesoderm
    ACVRL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACVRL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591026
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACVRL1: 
              TGFB/BMP Signaling Pathway in human mouse rat
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ACVRL1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acvrl11 , 5 activin A receptor, type II-like 11, 5 85.43(n)1
    89.02(a)1
      15 (56.41 cM)5
    114821  NM_001277255.11  NP_001264184.11 
     1011285225 
    chicken
    (Gallus gallus)
    Aves ACVRL11 activin A receptor type II-like 1 69.78(n)
    71.03(a)
      100857446  XM_003643393.2  XP_003643441.2 
    lizard
    (Anolis carolinensis)
    Reptilia ACVRL16
    activin A receptor type II-like 1
    64(a)
    1 ↔ 1
    2(92587862-92619470)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004932821 activin receptor type-1-like 60.29(n)
    64.13(a)
      100493282  XM_002935116.2  XP_002935162.2 
    zebrafish
    (Danio rerio)
    Actinopterygii acvrl12 activin A receptor type II-like 1 75.91(n)   266753  AF435025.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sax3 anterior/posterior pattern formation,
    imaginal more
    49(a)   2 43E18   --


    ENSEMBL Gene Tree for ACVRL1 (if available)
    TreeFam Gene Tree for ACVRL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACVRL1 gene
    ACVR1C2  TGFBR22  AMHR22  ACVR2B2  ACVR2A2  TGFBR12  ACVR1B2  BMPR1A2  
    ACVR12  BMPR22  BMPR1B2  
    8 SIMAP similar genes for ACVRL1 using alignment to 6 protein entries:     ACVL1_HUMAN (see all proteins):
    ACVR1    ACVR1C    TGFBR1    BMPR1A    BMPR1B    ACVR1B
    ACVR2B    ACVR2A

    Find genes that share paralogs with ACVRL1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACVRL1 (see all 491)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289366871,2,,4
    CTelangiectasia, hereditary hemorrhagic, 2 (HHT2)4 pathogenic152142643(+) AAAAGA/GCCGCT 4 D G mis1 ese30--------
    rs289366881,2,,4
    CTelangiectasia, hereditary hemorrhagic, 2 (HHT2)4 pathogenic152143686(+) GCAGTA/GTTGCA 4 Y C mis10--------
    rs289364011,2,,4
    CTelangiectasia, hereditary hemorrhagic, 2 (HHT2)4 pathogenic152144310(+) CCAAGC/TGGTAC 4 R W mis10--------
    rs289363991,2,,4
    CTelangiectasia, hereditary hemorrhagic, 2 (HHT2)4 pathogenic152144317(+) GTACAG/TGGCAC 4 R M mis1 ese30--------
    rs1391428651,2,,4
    C,FTelangiectasia, hereditary hemorrhagic, 2 (HHT2)4 --52149029(+) CACCGC/TGCTGC 4 A V mis12Minor allele frequency- T:0.00NA EU 5875
    VAR_0703354
    Telangiectasia, hereditary hemorrhagic, 2 (HHT2)4--see VAR_0703352 P S mis40--------
    VAR_0062074
    Telangiectasia, hereditary hemorrhagic, 2 (HHT2)4--see VAR_0062072 C W mis40--------
    VAR_0703394
    Telangiectasia, hereditary hemorrhagic, 2 (HHT2)4--see VAR_0703392 P R mis40--------
    VAR_0703334
    Telangiectasia, hereditary hemorrhagic, 2 (HHT2)4--see VAR_0703332 C R mis40--------
    VAR_0268094
    Telangiectasia, hereditary hemorrhagic, 2 (HHT2)4--see VAR_0268092 R W mis40--------

    HapMap Linkage Disequilibrium report for ACVRL1 (52300692 - 52317145 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ACVRL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv707CNV Insertion18451855
    nsv527286CNV Loss19592680
    nsv523741CNV Loss19592680

    Human Gene Mutation Database (HGMD): ACVRL1
    Locus Specific Mutation Databases (LSDB): ACVRL1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601284   
    OMIM disorders: 600376  
    UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023
  • Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]: A multisystemic vascular dysplasia leading
    to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease
    is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes
    arteriovenous malformations of the lung, liver, and brain. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 17 diseases for ACVRL1:    
    About MalaCards
    hereditary hemorrhagic telangiectasia type 2    angiodysplasia    acvrl1-related hereditary hemorrhagic telangiectasia    mixed connective tissue disease
    pulmonary arteriovenous malformation    arteriovenous malformation    lymphomatoid papulosis    connective tissue disease
    weber syndrome    telangiectasis    heritable pulmonary arterial hypertension    hereditary hemorrhagic telangiectasia
    primary pulmonary hypertension    inflammatory myofibroblastic tumor    anaplastic large cell lymphoma    klippel-trenaunay syndrome
    leiomyosarcoma

    4 diseases from the University of Copenhagen DISEASES database for ACVRL1:
    Hereditary hemorrhagic telangiectasia     Telangiectasis     Arteriovenous malformation     Angiodysplasia

    Find genes that share disorders with ACVRL1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ACVRL1 gene (see all 30)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    telangiectasia hereditary hemorrhagic 97.1 112 11484689 (3), 10767348 (2), 16861286 (2), 16470589 (2) (see all 62)
    telangiectasia 92.6 42 15065824 (2), 14684682 (2), 11773580 (1), 16059938 (1) (see all 24)
    arteriovenous malformations 87.1 24 16470787 (2), 11773580 (1), 16059938 (1), 16762882 (1) (see all 16)
    anaplastic large cell lymphoma 75.3 3 12218210 (1), 12657933 (1), 11266530 (1)
    dysplasia 65.9 17 16059938 (1), 16595794 (1), 10749981 (1), 15065824 (1) (see all 11)
    lymphomatoid papulosis 65 1 17484779 (1)
    angiodysplasia 64.6 6 10187774 (1), 16429404 (1), 19205515 (1)
    primary pulmonary hypertension 62 3 11869166 (1), 15065824 (1), 11484689 (1)
    polyposis 60.2 2 16705692 (1), 16690726 (1)
    vascular diseases 60.1 33 14684682 (2), 12667943 (1), 15385967 (1), 18673552 (1) (see all 15)

    GeneTests: ACVRL1
    GeneReviews: ACVRL1
    Genetic Association Database (GAD): ACVRL1
    Human Genome Epidemiology (HuGE) Navigator: ACVRL1 (19 documents)

    Export disorders for ACVRL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACVRL1 gene, integrated from 10 sources (see all 275):
    (articles sorted by number of sources associating them with ACVRL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. (PubMed id 8640225)1, 2, 3, 9 Johnson D.W.... Marchuk D.A. (Nat. Genet. 1996)
    2. Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. (PubMed id 16752392)1, 2, 4, 9 Bossler A.D....Ganguly A. (Hum. Mutat. 2006)
    3. Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. (PubMed id 8397373)1, 2, 3, 9 ten Dijke P.... Miyazono K. (Oncogene 1993)
    4. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. (PubMed id 20056902)1, 4, 9 Girerd B....Humbert M. (Am. J. Respir. Crit. Care Med. 2010)
    5. Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. (PubMed id 10767348)1, 2, 9 Abdalla S.A.... Letarte M. (Hum. Mol. Genet. 2000)
    6. Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers. (PubMed id 17388964)1, 4, 9 SabbA C....Guant G. (J. Thromb. Haemost. 2007)
    7. Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. (PubMed id 15712270)1, 2, 9 Kuehl H.K.A.... Stuhrmann M. (Hum. Mutat. 2005)
    8. Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. (PubMed id 16705692)1, 4, 9 Lesca G....Giraud S. (Hum. Mutat. 2006)
    9. Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. (PubMed id 10694922)1, 2, 9 Klaus D.J.... Marchuk D.A. (Hum. Mutat. 1998)
    10. Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. (PubMed id 18498373)1, 4, 9 Brakensiek K....Stuhrmann M. (Clin. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 94 HGNC: 175 AceView: ACVRL1 Ensembl:ENSG00000139567 euGenes: HUgn94
    ECgene: ACVRL1 H-InvDB: ACVRL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACVRL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACVRL1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ACVRL1[genesymbol]
    Hereditary Hemorrhagic Telangiectasia and ENGhttp://arup.utah.edu/database/ACVRL1/ACVRL1_welcome.php

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACVRL1 gene:
    Search GeneIP for patents involving ACVRL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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