Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACVRL1 Gene

protein-coding   GIFtS: 69
GCID: GC12P052300

activin A receptor type II-like 1


(Previous symbols: ACVRLK1, ORW2)
 Explore 37 diseases affiliated with
ACVRL1 via our new
 Human Malady Compendium 
Biological research products
for ACVRL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Activin A Receptor Type II-Like 11 2     TSR-I2 3
ACVRLK11 2 3 5     TGF-B Superfamily Receptor Type I2 3
ALK11 2 3 5     EC 2.7.11.303 8
HHT21 2 5     Activin A Receptor, Type II-Like Kinase 12
HHT1 2     Serine/Threonine-Protein Kinase Receptor R32
ORW21 2     Activin Receptor-Like Kinase 13
ALK-12 3     EC 2.7.118
SKR32 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACVRL1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACVRL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: Membrane; Single-pass type I membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P37023

  • 4/15 DME Specific Peptides for ACVRL1 (P37023) (see all 15)
     IADLGLA  YMAPEVL  KVVCVDQQ  RVGTKRYM 

    ACVRL1 Protein expression data from MOPED and PaxDb: --
    REFSEQ proteins (2 alternative transcripts): 
    NP_000011.2  NP_001070869.1  

    ENSEMBL proteins: 
     ENSP00000455848   ENSP00000373574   ENSP00000446724   ENSP00000447884   ENSP00000392492  
     ENSP00000457394  

    Human Recombinant Protein Products for ACVRL1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ACVRL1 (ALK-1)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: ACVRL1
    OriGene Protein Over-expression Lysate (see all 2): ACVRL1
    OriGene Custom Protein Services for ACVRL1 
    GenScript Custom Purified and Recombinant Proteins Services for ACVRL1
    Novus Biologicals ACVRL1 Proteins
    Novus Biologicals ACVRL1 Lysates
    Sino Biological Recombinant Protein for ACVRL1
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ACVRL1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

    ACVRL1 for ontologies           About GeneDecksing



    ACVRL1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for ACVRL1 (ALK-1)
    OriGene Antibodies: ACVRL1
    OriGene Custom Antibody Services for ACVRL1 
    GenScript Custom Superior Antibodies Services for ACVRL1
    Novus Biologicals ACVRL1 Antibodies
    Abcam antibodies for ACVRL1 
    Uscn Antibodies for ACVRL1
    ThermoFisher Antibodies for ACVRL1

    Assay Products for ACVRL1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ACVRL1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ACVRL1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ACVRL1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR003605 TGF_beta_rcpt_GS
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry P37023

    ProtoNet protein and cluster: P37023

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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:0005024transforming growth factor beta-activated receptor activity IDA8242742
    GO:0005025contributes to transforming growth factor beta receptor activity, type I IDA8242742
         
    ACVRL1 for ontologies           About GeneDecksing


    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 
     hematopoietic system  homeostasis/metabolism  liver/biliary system  mortality/aging  muscle 
     nervous system  normal  respiratory system 

    ACVRL1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for ACVRL1: Acvrl1tm2.2Spo Acvrl1tm1Enl Acvrl1tm1Dyl
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ACVRL1 

    miRNA
    Products:
        
    OriGene 3'-UTR Clone (see all 2): ACVRL1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACVRL1
    8/24 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACVRL1 (see all 7)
    OriGene shRNA RFP: ACVRL1
    OriGene siRNA: ACVRL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACVRL1
    Sirion Biotech Custom design and validation of potent shRNA sequences against ACVRL1 

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACVRL1
    Sirion Biotech Customized adenovirus for overexpression of ACVRL1 
    Sirion Biotech Customized adenovirus for potent knockdown of ACVRL1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACVRL1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACVRL1 (see all 3)
    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 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ACVRL1
    Search LifeMap BioReagents cell lines for ACVRL1
    Sirion Biotech Customized stable knockdown cell line services for ACVRL1 
    Sirion Biotech Customized inducible knockdown cell line services for ACVRL1
    Sirion Biotech Customized stable overexpressing cell line services for ACVRL1
    Sirion Biotech Customized inducible overexpressing cell line services for ACVRL1

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACVRL1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Akt Signaling
    Akt Signaling1.00
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    2Id Signaling Pathway
    Id Signaling Pathway1.00
    3TGF-beta Receptor Signaling Pathway
    TGF-beta Receptor Signaling Pathway1.00
    4TGF-beta Signaling Pathways
    TGF-beta Signaling Pathways1.00
    5ALK1 pathway
    ALK1 pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    5/7 Downloadable PowerPoint Slides of QIAGEN 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 
        Id Signaling Pathway
    TGF-beta Receptor Signaling Pathway
    ALK1 signaling events
    ALK1 pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACVRL1

    5/15 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): 5/44 biological process terms (GO ID links to tree view) (see all 44):    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--

    ACVRL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACVRL1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACVRL1

    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 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)

    Search CenterWatch for drugs/clinical trials and news about ACVRL1 / ACVL1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Products:
         
    OriGene 3'-UTR Clone (see all 2): ACVRL1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACVRL1
    8/24 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACVRL1 (see all 7)
    OriGene shRNA RFP: ACVRL1
    OriGene siRNA: ACVRL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACVRL1
    Sirion Biotech Custom design and validation of potent shRNA sequences against ACVRL1 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACVRL1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACVRL1 (see all 3)
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACVRL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACVRL1 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACVRL1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ACVRL1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACVRL1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACVRL1

    Additional cDNA 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 

    24/160 AceView cDNA sequences (see all 160):

    AA359616 BM713543 AI740840 CD367529 CR599504 BX460313 CD367285 BM726875 
    BU739570 AW205372 BX105121 BU683521 BM978185 BM674882 AA296201 AI799845 
    BM717681 AA296280 BM712769 AI973089 AI659369 AI672874 BU633341 CR596233 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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

    ACVRL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Lateral Plate MesodermPaired Dorsal AortaArterial endothelial cellsEndothelium
    Extraembryonic MesodermExtraembryonic MesodermExtraembryonic Mural CellsExtraembryonic Tissues
    Lateral Plate MesodermSplanchnic MesodermMural CellsPericytes, Smooth Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    Human umbilical vein endothelial cells (HUVEC) (Primary Cell)Endothelium
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium

    Genevestigator expression for ACVRL1

    SOURCE GeneReport for Unigene cluster: Hs.591026
        SABiosciences Expression via Pathway-Focused 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

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACVRL1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ACVRL1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACVRL1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACVRL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACVRL1

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ACVRL1 gene from 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC1008574461 serine/threonine-protein kinase receptor R3-like 69.95(n)
    71.36(a)
      100857446  XM_003643393.1  XP_003643441.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACVRL16
    --
    62(a)
    1 ↔ 1
    2(92589271-92618460)
    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   --
    worm
    (Caenorhabditis elegans)
    Secernentea daf-13 protein kinase 39(a)
    (best of 2)
      IV(132451-137621)   --


    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)
    About This Section
    Paralogs for ACVRL1 gene
    TGFBR22  ACVR1C2  AMHR22  ACVR2A2  ACVR2B2  ACVR1B2  TGFBR12  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

    ACVRL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/325 NCBI SNPs in ACVRL1 are shown (see all 325    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289366871,2
    Cpathogenic49341307(+) AAAAGG/ACCGCT 4 /D /G mis1 ese31Minor allele frequency- A:0.00NA 2
    rs289366881,2
    Cpathogenic49342350(+) GCAGTG/ATTGCA 4 /Y /C mis12Minor allele frequency- A:0.00NA 4
    rs289364011,2
    Cpathogenic49342974(+) CCAAGC/TGGTAC 4 R W mis12Minor allele frequency- T:0.00NA 4
    rs289363991,2
    Cpathogenic49342981(+) GTACAT/GGGCAC 4 /R /M mis1 ese32Minor allele frequency- G:0.00NA 4
    rs1219092841,2
    Cpathogenic49343086(+) CCGCCA/C/GGACCA 6 Q P R mis10--------
    rs1501408781,2
    Cother49343015(+) CGCACG/AGACTG 4 /T syn11Minor allele frequency- A:0.00NA 4548
    rs767420021,2
    F--49332413(+) CTCTCA/GGACTA 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs802699381,2
    C,F--49332448(+) CTCTCG/ACTTCT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs731115181,2
    C--49332599(+) CTGAAC/AGAGCA 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1175642831,2
    C,F--49333171(+) GCCTAC/TGGTAA 1 -- us2k11Minor allele frequency- T:0.10NA 120

    HapMap Linkage Disequilibrium report for ACVRL1 (52300692 - 52317145 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ACVRL1: --
    Human Gene Mutation Database (HGMD): ACVRL1

    Locus Specific Mutation Databases (LSDB): ACVRL1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACVRL1
    DNA2.0 Custom Variant and Variant Library Synthesis for ACVRL1

    (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.)
    About This Section

    ACVRL1 for disorders           About GeneDecksing

    OMIM gene information: 601284   
    OMIM disorders: 600376  
    UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023
  • Defects in ACVRL1 are the cause of hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]; also
  • known as Osler-Rendu-Weber syndrome 2 (ORW2). HHT2 is an autosomal dominant multisystemic vascular dysplasia,
    characterized by recurrent epistaxis, muco-cutaneous telangiectases, gastro-intestinal hemorrhage, and pulmonary,
    cerebral and hepatic arteriovenous malformations; all secondary manifestations of the underlying vascular dysplasia

    20/37 diseases for ACVRL1 (see all 37):    About MalaCards
    weber syndrome    mixed connective tissue disease    lymphomatoid papulosis    connective tissue disease
    klippel-trenaunay syndrome    arteriovenous malformation    hereditary hemorrhagic telangiectasia type 2    hereditary hemorrhagic telangiectasia
    anaplastic large cell lymphoma    angiodysplasia    inflammatory myofibroblastic tumor    primary pulmonary hypertension
    b-cell lymphomas    pulmonary hypertension    telangiectasis    vascular malformations
    sickle cell disease    leiomyosarcoma    hypertension    hepatopulmonary syndrome

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

    10/30 Novoseek 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
    Hereditary Hemorrhagic Telangiectasia

    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)
    About This Section

    PubMed articles for ACVRL1 gene, integrated from 9 sources (see all 266):
    (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. (1996)
    2. 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. (1993)
    3. 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. (2000)
    4. 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. (2005)
    5. 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. (1998)
    6. Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. (PubMed id 14684682)1, 2, 9 Harrison R.E.... Trembath R.C. (2003)
    7. The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. (PubMed id 9245985)1, 2, 9 Berg J.N.... Marchuk D.A. (1997)
    8. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. (PubMed id 15024723)1, 2, 9 Lesca G.... Giraud S. (2004)
    9. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. (PubMed id 11484689)1, 2, 9 Trembath R.C.... Morrell N.W. (2001)
    10. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. (PubMed id 12920067)1, 4, 9 Berg J....Guttmacher A. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 94 HGNC: 175 AceView: ACVRL1 Ensembl:ENSG00000139567 euGenes: HUgn94
    ECgene: ACVRL1 H-InvDB: ACVRL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/ACVRL1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for ACVRL1 (ALK-1)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Recombinant/Natural Proteins for ACVRL1 (ALK-1)  
     OriGene Antibodies for ACVRL1   OriGene shRNA RFP for ACVRL1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACVRL1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACVRL1  
     OriGene Protein Over-expression Lysate for ACVRL1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for ACVRL1   OriGene 3'-UTR Clone for ACVRL1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACVRL1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACVRL1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for ACVRL1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ACVRL1   OriGene Custom Protein Services for ACVRL1  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ACVRL1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACVRL1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACVRL1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACVRL1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACVRL1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACVRL1
     GenScript Custom Purified and Recombinant Proteins Services for ACVRL1 GenScript cDNA clones with any tag delivered in your preferred vector for ACVRL1
     GenScript Custom Assay Services for ACVRL1 GenScript Custom Superior Antibodies Services for ACVRL1
     GenScript Custom overexpressing Cell Line Services for ACVRL1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ACVRL1 promoter
     Search Chromatin IP Primers for ACVRL1
     RT2 qPCR Primer Assay in human, mouse, rat ACVRL1
     GNC Network for ACVRL1
     SABiosciences PCR Arrays including human, mouse, rat ACVRL1
     Search Tocris compounds for ACVRL1
     Proteins and Antibodies for ACVRL1
     cDNA Clones for ACVRL1
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ACVRL1 antibodies
     ACVRL1 proteins
     ACVRL1 lysates
     Antibodies for ACVRL1
     See all of Abcam's Antibodies, Kits and Proteins for ACVRL1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     ACVRL1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for ACVRL1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACVRL1
     SwitchGear 3'UTR luciferase reporter plasmids for ACVRL1
     SwitchGear Promoter luciferase reporter plasmids for ACVRL1
     ThermoFisher Antibodies for ACVRL1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACVRL1
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ACVRL1
    Sirion Biotech Customized:
     stable knockdown cell line services for ACVRL1
     inducible knockdown cell line services for ACVRL1
     design and validation of potent shRNA sequences against ACVRL1
     adenovirus for potent knockdown of ACVRL1
     adenovirus for overexpression of ACVRL1
     stable overexpressing cell line services for ACVRL1
     inducible overexpressing cell line services for ACVRL1
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ACVRL1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4