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ACVR1 Gene

protein-coding   GIFtS: 73
GCID: GC02M158594

Activin A Receptor, Type I


(Previous symbol: ACVRLK2)
  See 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 I1 2     ACTRI2
ACVRLK21 2 3 5     ACVR1A2
Activin Receptor Type I2 3     TSRI2
Activin Receptor-Like Kinase 22 3     Activin A Receptor, Type II-Like Kinase 22
Serine/Threonine-Protein Kinase Receptor R12 3     Activin Receptor Type-12
SKR12 3     Hydroxyalkyl-Protein Kinase2
TGF-B Superfamily Receptor Type I2 3     ACTR-I3
EC 2.7.11.303 8     ALK-23
ALK22 5     TSR-I3
FOP2 5     EC 2.7.118

External Ids:    HGNC: 1711   Entrez Gene: 902   Ensembl: ENSG000001151707   OMIM: 1025765   UniProtKB: Q047713   

Export aliases for ACVR1 gene to outside databases

Previous GC identifers: GC02M156524 GC02M157121 GC02M158557 GC02M158795 GC02M158418 GC02M158301 GC02M150478


(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 ACVR1 Gene:
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta
(TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex
of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors.
These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with
cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine
specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands
and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding,
resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I
receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations
in this gene are associated with fibrodysplasia ossificans progressive. (provided by RefSeq, Jul 2008)

GeneCards Summary for ACVR1 Gene:
ACVR1 (activin A receptor, type I) is a protein-coding gene. Diseases associated with ACVR1 include fibrodysplasia ossificans progressiva, and osteochondroma. GO annotations related to this gene include protein kinase activity and protein homodimerization activity. An important paralog of this gene is ACVR1C.

UniProtKB/Swiss-Prot: ACVR1_HUMAN, Q04771
Function: 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. Receptor for activin. May be involved for left-right
pattern formation during embryogenesis (By similarity)

Gene Wiki entry for ACVR1 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:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACVR1 gene promoter:
         Sox5   SRY   GATA-3   Brachyury   COMP1   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACVR1 promoter sequence
   Search Chromatin IP Primers for ACVR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACVR1


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

Entrez Gene cytogenetic band: 2q23-q24   Ensembl cytogenetic band:  2q24.1   HGNC cytogenetic band: 2q23-q24

ACVR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACVR1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M158594:  view genomic region     (about GC identifiers)

Start:
158,592,958 bp from pter      End:
158,732,374 bp from pter
Size:
139,417 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ACVR1_HUMAN, Q04771 (See protein sequence)
Recommended Name: Activin receptor type-1 precursor  
Size: 509 amino acids; 57153 Da
Cofactor: Magnesium or manganese (By similarity)
Subunit: Interacts with FKBP1A. Interacts with FCHO1
Selected PDB 3D structures from and Proteopedia for ACVR1 (see all 7):
3H9R (3D)        3MTF (3D)        3OOM (3D)        3Q4U (3D)        4BGG (3D)        4C02 (3D)    

Explore the universe of human proteins at neXtProt for ACVR1: NX_Q04771

Explore proteomics data for ACVR1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn102
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACVR1 (Q04771) (see all 24)
     YMAPEVL  IADLGLA  RPNIPNRW  SGSGSGLP 


    See ACVR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001096.1  NP_001104537.1  

    ENSEMBL proteins: 
     ENSP00000263640   ENSP00000387273   ENSP00000387127   ENSP00000403006   ENSP00000401189  
     ENSP00000440091   ENSP00000400767   ENSP00000399322   ENSP00000405004  

    ACVR1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ACVR1 (Activin RIA/ALK-2)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for ACVR1
    OriGene Protein Over-expression Lysate for ACVR1
    OriGene MassSpec for ACVR1
    OriGene Custom Protein Services for ACVR1
    GenScript Custom Purified and Recombinant Proteins Services for ACVR1
    Novus Biologicals ACVR1 Proteins
    Novus Biologicals ACVR1 Lysates
    Sino Biological Recombinant Protein for ACVR1
    Sino Biological Cell Lysate for ACVR1
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACVR1

    ACVR1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACVR1
    R&D Systems Antibodies for ACVR1 (Activin RIA/ALK-2)
    Cell Signaling Technology (CST) Antibodies for ACVR1  (ALK2)
    OriGene Antibodies for ACVR1
    OriGene Custom Antibody Services for ACVR1
    Novus Biologicals ACVR1 Antibodies
    Abcam antibodies for ACVR1
    Cloud-Clone Corp. Antibodies for ACVR1
    ThermoFisher Antibodies for ACVR1
    LSBio Antibodies in human, mouse, rat for ACVR1

    ACVR1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ACVR1
    Browse R&D Systems for biochemical assays
    GenScript ACVR1-Activity-based Kinase Assay for Compound Screening
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ACVR1
    Cloud-Clone Corp. CLIAs for ACVR1


    (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 I
    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 Q04771

    ProtoNet protein and cluster: Q04771

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

    UniProtKB/Swiss-Prot: ACVR1_HUMAN, Q04771
    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


    ACVR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACVR1_HUMAN, Q04771
    Function: 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. Receptor for activin. May be involved for left-right
    pattern formation during embryogenesis (By similarity)
    Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

         Genatlas biochemistry entry for ACVR1:
    activin receptor type 1,member of transforming growth factor beta superfamily

         Enzyme Numbers (IUBMB): EC 2.7.11.301 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity IDA19736306
    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 ----
         
    ACVR1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ACVR1:
     Decreased substrate adherent c  Stronger migration 

         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Acvr1) (see all 16):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  immune system 
     limbs/digits/tail  mortality/aging  muscle  nervous system  skeleton 

    ACVR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ACVR1: Acvr1tm1.1Vk Acvr1tm1Enl Acvr1tm1Bhr

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACVR1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACVR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACVR1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACVR1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACVR1:
    hsa-mir-130b-3p (MIRT020339), hsa-mir-335-5p (MIRT018362), hsa-mir-130a-3p (MIRT007141), hsa-mir-19b-3p (MIRT031253), hsa-mir-186-5p (MIRT021192), hsa-mir-197-3p (MIRT000216), hsa-mir-148a-3p (MIRT006946)

    Block miRNA regulation of human, mouse, rat ACVR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACVR1 (see all 57):
    hsa-miR-100* hsa-miR-300 hsa-miR-30d hsa-miR-301a hsa-miR-519a hsa-miR-570 hsa-miR-30a hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidACVR1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACVR1
    Predesigned siRNA for gene silencing in human, mouse, rat ACVR1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACVR1

    Clone
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    OriGene clones in human, mouse for ACVR1 (see all 16)
    OriGene ORF clones in mouse, rat for ACVR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ACVR1 (NM_001105)
    Sino Biological Human cDNA Clone for ACVR1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACVR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACVR1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ACVR1
    Browse ESI BIO Cell Lines and PureStem Progenitors for ACVR1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACVR1


    (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
    ACVR1_HUMAN, Q04771: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    cytosol1
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane IDA8242742
    GO:0016020membrane ----
    GO:0045177apical part of cell IEA--
    GO:0048179activin receptor complex IDA8242742

    ACVR1 for ontologies           About GeneDecksing


    (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 ACVR1 About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    2Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    3Apoptosis Pathway
    Apoptosis Pathway0.45
    Akt Pathway0.39
    NF-kappaB Pathway0.45
    4ALK1 signaling events
    ALK1 signaling events
    ALK1 pathway0.00
    5PAK Pathway
    Antioxidant Action of Vitamin-C0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ACVR1 (see all 8)
        STAT3 Pathway
    Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Tec Kinases Signaling

    1 Cell Signaling Technology (CST) Pathway for ACVR1
        TGF-beta/Smad Signaling

    4 Tocris Bioscience Pathways for ACVR1
        Akt Pathway
    Apoptosis Pathway
    TGF-beta Pathway
    NF-kappaB Pathway

    3 BioSystems Pathways for ACVR1
        ALK2 signaling events
    ALK1 signaling events
    ALK1 pathway

    1 Sino Biological Pathway for ACVR1
        TGF-beta Signaling Pathway


    2 Kegg Pathways  (Kegg details for ACVR1):
        Cytokine-cytokine receptor interaction
    TGF-beta signaling pathway


    ACVR1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACVR1: 
              Osteogenesis in human mouse rat
              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 ACVR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACVR1 (Q047712, 3 ENSP000002636404) via UniProtKB, MINT, STRING, and/or I2D (see all 188)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBA52P629873, ENSP000003881074I2D: score=5 STRING: ENSP00000388107
    NRASP011113, ENSP000003585484I2D: score=4 STRING: ENSP00000358548
    PAK1Q131533, ENSP000002785684I2D: score=4 STRING: ENSP00000278568
    PLEKHB1Q9UF113, ENSP000003461274I2D: score=4 STRING: ENSP00000346127
    CDK14O949213, ENSP000002657414I2D: score=3 STRING: ENSP00000265741
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 40):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle IMP9884026
    GO:0001569patterning of blood vessels IEA--
    GO:0001655urogenital system development IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0001702gastrulation with mouth forming second IEA--

    ACVR1 for ontologies           About GeneDecksing



    (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 ACVR1

    8 HMDB Compounds for ACVR1    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--
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--
    MenadioneVitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)58-27-5--
    Simvastatin(+)-Simvastatin (see all 28)79902-63-9--
    Warfarin(phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarin (see all 105)81-81-2--

    2 DrugBank Compounds for ACVR1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17139284 17016423
    6-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine-- --target--10592235

    3 Novoseek inferred chemical compound relationships for ACVR1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 64.8 5 8242742 (1), 7791754 (1), 8389764 (1), 15621726 (1)
    serine 52.2 6 8242742 (1), 7791754 (1), 8389764 (1), 15621726 (1) (see all 5)
    oligonucleotide 0 1 8389764 (1)



    ACVR1 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ACVR1 gene (2 alternative transcripts): 
    NM_001105.4  NM_001111067.2  

    Unigene Cluster for ACVR1:

    Activin A receptor, type I
    Hs.470316  [show with all ESTs]
    Unigene Representative Sequence: BC036748
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263640(uc002tzm.3 uc002tzn.3) ENST00000409283 ENST00000410057
    ENST00000487456 ENST00000412025 ENST00000440523 ENST00000539637 ENST00000424669
    ENST00000413751 ENST00000434821(uc010fog.2)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ACVR1 (see all 57):
    hsa-miR-100* hsa-miR-300 hsa-miR-30d hsa-miR-301a hsa-miR-519a hsa-miR-570 hsa-miR-30a hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidACVR1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ACVR1
    Predesigned siRNA for gene silencing in human, mouse, rat ACVR1
    Clone
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    OriGene ORF clones in mouse, rat for ACVR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ACVR1 (NM_001105)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACVR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACVR1
    Primer
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    OriGene qPCR primer pairs and template standards for ACVR1
    OriGene qSTAR qPCR primer pairs in human, mouse for ACVR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACVR1
      QuantiTect SYBR Green Assays in human, mouse, rat ACVR1
      QuantiFast Probe-based Assays in human, mouse, rat ACVR1

    Additional mRNA sequence: 

    AK297765.1 AK313630.1 BC033867.1 BC036748.1 L02911.1 Z22534.1 

    10 DOTS entries:

    DT.443257  DT.100749946  DT.91838442  DT.91760723  DT.100749947  DT.97767836  DT.97769140  DT.120984794 
    DT.40220054  DT.97804988 

    Selected AceView cDNA sequences (see all 137):

    AI631189 AA378197 BM851122 AW613513 T29135 W67515 R45384 BX505932 
    AW029054 BM128460 BC033867 CR623544 CD655050 BX455529 N66988 BU629124 
    CN481300 L02911 AW118702 AI587200 BM545650 AI087081 BC036748 AI623705 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ACVR1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                                                                                                      
    SP2:                    -     -                                                                           
    SP3:              -     -                                                                                 
    SP4:              -     -     -                                                                           


    ECgene alternative splicing isoforms for ACVR1

    (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)
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    ACVR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTGATGTT
    ACVR1 Expression
    About this image


    ACVR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 7 entries
             Chondrocytes Vertebrae
     
     Cartilage (Muscoskeletal System)    fully expand to see all 7 entries
             Chondrocytes Vertebrae
     
     Extraembryonic Tissues (Extraembryonic Tissues)
             Extra-embryonic endoderm cells
     
     Uncategorized
             Extra-embryonic endoderm cells
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
    ACVR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACVR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.470316

    UniProtKB/Swiss-Prot: ACVR1_HUMAN, Q04771
    Tissue specificity: Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived
    epithelial cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACVR1: 
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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 ACVR1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acvr11 , 5 activin A receptor, type 11, 5 90.64(n)1
    98.43(a)1
      2 (33.05 cM)5
    114771  NM_001110204.11  NP_001103674.11 
     583886445 
    chicken
    (Gallus gallus)
    Aves ACVR11 activin A receptor, type I 77.53(n)
    85.6(a)
      395246  NM_204560.1  NP_989891.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACVR16
    activin A receptor, type I
    75(a)
    1 ↔ 1
    GL343254.1(176273-276982)
    African clawed frog
    (Xenopus laevis)
    Amphibia xALK-22 activin receptor like kinase-2 83.38(n)    U49914.1 
    zebrafish
    (Danio rerio)
    Actinopterygii alk82 activin receptor-like kinase 8 76.06(n)   30615  AF038425.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sax1 , 3 anterior/posterior pattern formation,
    imaginal more3
    saxophone1
    54(a)
    (best of 3)3
    57.11(n)1
    57.11(a)1
      2 43E183
    357311  NM_001259264.11  NP_001246193.11 


    ENSEMBL Gene Tree for ACVR1 (if available)
    TreeFam Gene Tree for ACVR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACVR1 gene
    ACVR1C2  TGFBR22  AMHR22  ACVR2B2  ACVR2A2  TGFBR12  ACVR1B2  BMPR1A2  
    ACVRL12  BMPR22  BMPR1B2  
    10 SIMAP similar genes for ACVR1 using alignment to 9 protein entries:     ACVR1_HUMAN (see all proteins):
    ACVRL1    ACVR1C    BMPR1A    TGFBR1    ACVR1B    BMPR1B
    ACVR2B    H_YH98E06.1    ACVR2A    BMPR2

    ACVR1 for paralogs           About GeneDecksing



    (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 ACVR1 (see all 2547)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0584234
    Fibrodysplasia ossificans progressiva (FOP)4--see VAR_0584232 G W mis40--------
    VAR_0584214
    Fibrodysplasia ossificans progressiva (FOP)4--see VAR_0584212 G E mis40--------
    VAR_0284444
    Fibrodysplasia ossificans progressiva (FOP)4--see VAR_0284442 R H mis40--------
    VAR_0584224
    Fibrodysplasia ossificans progressiva (FOP)4--see VAR_0584222 G R mis40--------
    VAR_0584194
    Fibrodysplasia ossificans progressiva (FOP)4--see VAR_0584192 R I mis40--------
    VAR_0413954
    A melanoma sample4--see VAR_0413952 P S mis40--------
    VAR_0584254
    Fibrodysplasia ossificans progressiva (FOP)4--see VAR_0584252 R P mis40--------
    VAR_0584204
    Fibrodysplasia ossificans progressiva (FOP)4--see VAR_0584202 Q E mis40--------
    VAR_0584244
    Fibrodysplasia ossificans progressiva (FOP)4--see VAR_0584242 G D mis40--------
    rs714043041,2
    C--150538009(+) GCCTC-/AAAAAA 2 -- int11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for ACVR1 (158592958 - 158732374 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ACVR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1694256CNV Deletion17803354
    esv3058CNV Deletion18987735
    esv2616379CNV Deletion19546169
    esv2721015CNV Deletion23290073
    esv2223769CNV Deletion18987734
    esv997183CNV Deletion20482838
    esv6111CNV Loss19470904
    nsv527541CNV Loss19592680

    Human Gene Mutation Database (HGMD): ACVR1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACVR1
    DNA2.0 Custom Variant and Variant Library Synthesis for ACVR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 102576   
    OMIM disorders: 135100  
    UniProtKB/Swiss-Prot: ACVR1_HUMAN, Q04771
  • Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]: A rare autosomal dominant connective tissue
    disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification
    begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and
    progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton,
    rendering movement impossible. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for ACVR1 (see all 43):    
    About MalaCards
    fibrodysplasia ossificans progressiva    osteochondroma    ankylosis    primary pulmonary hypertension
    congenital heart defect    intracranial aneurysm    ovarian endometriosis    pharyngitis
    goiter    malignant pleural mesothelioma    narcolepsy    polycystic ovary syndrome
    eclampsia    pre-eclampsia    pheochromocytoma    pituitary adenoma
    acute myocardial infarction    malignant glioma    diabetic nephropathy    myocardial infarction

    2 diseases from the University of Copenhagen DISEASES database for ACVR1:
    Fibrodysplasia ossificans progressiva     Genetic disorder

    ACVR1 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for ACVR1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fibrodysplasia ossificans progressiva 86 2 18019378 (1), 18245597 (1), 18684712 (1), 19400542 (1) (see all 7)
    ossification heterotopic 64.8 4 19085907 (2), 17967130 (1)
    pancreatic cancer 16.5 3 9850059 (1), 9714055 (1)
    inflammation 1.11 1 12151307 (1)
    tumors 0 5 8636304 (1), 17982616 (1)
    carcinoma 0 1 18077314 (1)
    cancer 0 1 9714055 (1)

    Genetic Association Database (GAD): ACVR1
    Human Genome Epidemiology (HuGE) Navigator: ACVR1 (9 documents)

    Export disorders for ACVR1 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 ACVR1 gene, integrated from 10 sources (see all 174):
    (articles sorted by number of sources associating them with ACVR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome. (PubMed id 18854405)1, 4, 9 Kevenaar M.E....Visser J.A. (Hum. Reprod. 2009)
    3. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. (PubMed id 19085907)1, 2, 9 Kaplan F.S.... Shore E.M. (Hum. Mutat. 2009)
    4. A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor. (PubMed id 8389764)1, 2, 9 Matsuzaki K. and McKeehan W.L. (J. Biol. Chem. 1993)
    5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    6. Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium. (PubMed id 20634197)1, 4 Canzian F....Feigelson H.S. (Hum. Mol. Genet. 2010)
    7. Genetic variation within the hypothalamus-pituitary-ovarian axis in women with recurrent miscarriage. (PubMed id 20716560)1, 4 Hanna C.W....Robinson W.P. (Hum. Reprod. 2010)
    8. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    9. Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3). (PubMed id 19574343)1, 4 Ahn J....Hayes R.B. (Hum. Mol. Genet. 2009)
    10. Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm. (PubMed id 19299629)1, 4 Santiago-Sim T....Kim D.H. ( a journal of cerebral circulation 2009)

    (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: 90 HGNC: 171 AceView: ACVR1 Ensembl:ENSG00000115170 euGenes: HUgn90
    ECgene: ACVR1 Kegg: 90 H-InvDB: ACVR1

    (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 ACVR1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACVR1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ACVR1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACVR1 gene:
    Search GeneIP for patents involving ACVR1

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



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