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

ACVR1B Gene

protein-coding   GIFtS: 70
GCID: GC12P052375

activin A receptor, type IB


(Previous symbol: ACVRLK4)
 Explore 24 diseases affiliated with
ACVR1B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ACVR1B    

Aliases
for ACVR1B gene

(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 IB1 2     ACTRIB2
ACVRLK41 2 3 5     Activin A Receptor, Type II-Like Kinase 42
ALK41 2 3 5     Activin Receptor Type-1B2
SKR21 2 3     ACTR-IB3
Activin Receptor-Like Kinase 42 3     ALK-43
Serine/Threonine-Protein Kinase Receptor R22 3     Activin Receptor Type IB3
EC 2.7.11.303 8     EC 2.7.118
ActRIB1     

External Ids:    HGNC: 1721   Entrez Gene: 912   Ensembl: ENSG000001355037   OMIM: 6013005   UniProtKB: P368963   

Export aliases for ACVR1B gene to outside databases

Previous GC identifers: GC12M052557 GC12P052062 GC12P050631 GC12P050494 GC12P049378


Summaries
for ACVR1B gene

(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 ACVR1B:
This gene encodes an activin A type IB receptor. 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 and two type II
receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated
with pituitary tumors. Alternate splicing results in multiple transcript variants.(provided by RefSeq, Jun 2010)

UniProtKB/Swiss-Prot: ACV1B_HUMAN, P36896
Function: Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with
activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and
is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal
survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular
matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role
in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a
primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals.
Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated
receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1
receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon
after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into
the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where
it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent
the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin
signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor.
ACVR1B also phosphorylates TDP2

summary for ACVR1B:
Activin receptors transduce signals carried by the TGF-? family of ligands. Such ligands include activin and
bone morphogenetic proteins (BMPs). Members of this family are involved in a range of processes, including
embryogenesis and tissue homeostasis.

Gene Wiki entry for ACVR1B


Genomic Views
for ACVR1B 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 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 ACVR1B gene promoter:
         GR   AML1a   ATF-2   Brachyury   IRF-1   LCR-F1   E47   Hand1   GR-alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACVR1B promoter sequence
   Search SABiosciences Chromatin IP Primers for ACVR1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACVR1B


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

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

ACVR1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACVR1B gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P052375:  view genomic region     (about GC identifiers)

Start:
 52,345,451 bp from pter      End:
 52,390,863 bp from pter
Size:
 45,413 bases      Orientation:
 plus strand

Proteins
for ACVR1B gene

(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: ACV1B_HUMAN, P36896 (See protein sequence)
Recommended Name: Activin receptor type-1B precursor  
Size: 505 amino acids; 56807 Da
Cofactor: Magnesium or manganese (By similarity)
Subunit: Forms an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Interacts with TDP2 (By
similarity). Interacts with AIP1, FKBP1A, IGSF1, TDGF1, SMAD2, SMAD3 and SMAD7
Subcellular location: Cell membrane; Single-pass type I membrane protein (By similarity)
Secondary accessions: B7Z5L8 B7Z5W5 Q15479 Q15480 Q15481 Q15482
Alternative splicing: 5 isoforms:  P36896-1   P36896-2   P36896-3   P36896-4   P36896-5   (Variant in position: 478:R->H)

Explore the universe of human proteins at neXtProt for ACVR1B: NX_P36896

Post-translational modifications:

  • Autophosphorylated. Phosphorylated by activin receptor type-2 (ACVR2A or ACVR2B) in response to activin-binding at
    • serine and threonine residues in the GS domain. Phosphorylation of ACVR1B by activin receptor type-2 regulates
    association with SMAD71
  • Ubiquitinated. Level of ubiquitination is regulated by the SMAD7-SMURF1 complex1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P36896

    • 4/15 DME Specific Peptides for ACVR1B (P36896) (see all 15)
     IADLGLA  YMAPEVL  ASGLAHLH  RVGTKRYM 

    ACVR1B Protein expression data from MOPED and PaxDb:    About this image 
    ACVR1B Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_004293.1  NP_064732.3  NP_064733.3  

    ENSEMBL proteins: 
     ENSP00000257963   ENSP00000456299   ENSP00000442656   ENSP00000390477   ENSP00000443218  
     ENSP00000397550   ENSP00000442885  
    Reactome Protein details: P36896
    Human Recombinant Protein Products for ACVR1B: 
    EMD Millipore Purified and/or Recombinant ACVR1B Protein
    R&D Systems Recombinant & Natural Proteins for ACVR1B (Activin RIB/ALK-4)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: ACVR1B
    OriGene Custom Protein Services for ACVR1B 
    GenScript Custom Purified and Recombinant Proteins Services for ACVR1B
    Novus Biologicals ACVR1B Proteins
    Novus Biologicals ACVR1B Lysates
    Sino Biological Recombinant Protein for ACVR1B
    ProSpec Recombinant Protein for ACVR1B
    Uscn Proteins for ACVR1B

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IDA9032295
    GO:0009986cell surface IDA12665502
    GO:0048179activin receptor complex ----

    ACVR1B for ontologies           About GeneDecksing



    ACVR1B Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACVR1B
    R&D Systems Antibodies for ACVR1B (Activin RIB/ALK-4)
    OriGene Antibodies: ACVR1B
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    Novus Biologicals ACVR1B Antibodies
    Abcam antibodies for ACVR1B 
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    ThermoFisher Antibodies for ACVR1B

    Assay Products for ACVR1B: 
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    GenScript ACVR1B-Activity-based Kinase Assay for Compound Screening
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ACVR1B

    Protein Domains /
    Families
    for ACVR1B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ACVR1B 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
     IPR000472 Activin_rcpt

    Graphical View of Domain Structure for InterPro Entry P36896

    ProtoNet protein and cluster: P36896

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

    UniProtKB/Swiss-Prot: ACV1B_HUMAN, P36896
    Domain: The GS domain is a 30-amino-acid sequence adjacent to the N-terminal boundary of the kinase domain and highly
    conserved in all other known type-1 receptors but not in type-2 receptors. The GS domain is the site of activation
    through phosphorylation by the II receptors
    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


    Function
    for ACVR1B gene

    (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: ACV1B_HUMAN, P36896
    Function: Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with
    activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and
    is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal
    survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular
    matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role
    in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a
    primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals.
    Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated
    receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1
    receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon
    after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into
    the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where
    it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent
    the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin
    signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor.
    ACVR1B also phosphorylates TDP2
    Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate
    Enzyme regulation: Activin receptor type-2 (ACVR2A or ACVR2B) activates the type-1 receptor through phosphorylation of
    its regulatory GS domain

         Genatlas biochemistry entry for ACVR1B:
    activin A receptor,type IB

         Enzyme Numbers (IUBMB): EC 2.7.11.301 2 EC 2.7.112

         Gene Ontology (GO): 5/14 molecular function terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity IDA12065756
    GO:0004675transmembrane receptor protein serine/threonine kinase activity NAS9032295
    GO:0004702receptor signaling protein serine/threonine kinase activity IEA--
    GO:0005024transforming growth factor beta-activated receptor activity IEA--
    GO:0005515protein binding IPI16720724
         
    ACVR1B for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Acvr1b):
     cellular  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size  integument  mortality/aging  nervous system  no phenotypic analysis 
     reproductive system  respiratory system 

    ACVR1B for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for ACVR1B: Acvr1btm1Enl Acvr1btm1.1Pbe
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ACVR1B 

    miRNA
    Products:            		miRTarBase miRNAs that target ACVR1B:
    hsa-mir-210 (MIRT003185), hsa-mir-24 (MIRT003830)

    OriGene 3'-UTR Clone (see all 3): ACVR1B
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACVR1B
    8/92 QIAGEN miScript miRNA Assays for microRNAs that regulate ACVR1B (see all 92):
    hsa-miR-642a hsa-miR-106a hsa-miR-218-1* hsa-miR-574-3p hsa-miR-371-5p hsa-miR-3142 hsa-miR-629* hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmid: ACVR1B 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 ACVR1B (see all 7)
    OriGene shRNA RFP: ACVR1B
    OriGene siRNA: ACVR1B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACVR1B
    Sirion Biotech Custom design and validation of potent shRNA sequences against ACVR1B 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ACVR1B
    Sirion Biotech Customized adenovirus for overexpression of ACVR1B 
    Sirion Biotech Customized adenovirus for potent knockdown of ACVR1B

    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 ACVR1B (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACVR1B (see all 4)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): ACVR1B (NM_004302)
    Sino Biological Human cDNA Clone for ACVR1B
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACVR1B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACVR1B 

    Cell Line
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    Search LifeMap BioReagents cell lines for ACVR1B
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACVR1B


    Pathways & Interactions
    for ACVR1B gene

    (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 10) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by NODAL
    		Signaling by NODAL1.00
    		Signaling by Activin0.36
    		Regulation of Signaling by NODAL0.56
    2Apoptosis Pathway
    		Apoptosis Pathway1.00
    		Akt Pathway0.39
    		NF-kappaB Pathway0.45
    3Signal transduction Activin A signaling regulation
    		Signal transduction Activin A signaling regulation1.00
    		Signal transduction_Activin A signaling regulation0.96
    4Human Embryonic Stem Cell Pluripotency
    		Human Embryonic Stem Cell Pluripotency1.00
    		Factors Promoting Cardiogenesis in Vertebrates0.50
    5PKA activation in glucagon signalling
    		Development_Role of Activin A in cell differentiation and proliferation0.33
    		Development Role of Activin A in cell differentiation and proliferation0.33

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for ACVR1B
        Development Role of Activin A in cell differentiation and proliferation
    Signal transduction Activin A signaling regulation

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ACVR1B
        Factors Promoting Cardiogenesis in Vertebrates
    Human Embryonic Stem Cell Pluripotency

    4 Tocris Bioscience Pathways for ACVR1B
        Akt Pathway
    Apoptosis Pathway
    TGF-beta Pathway
    NF-kappaB Pathway

    2 GeneGo (Thomson Reuters) Pathways for ACVR1B
        Signal transduction Activin A signaling regulation
    Development Role of Activin A in cell differentiation and proliferation

    1 BioSystems Pathway for ACVR1B 
        MAPK signaling pathway

    5        Reactome Pathways for ACVR1B
        Signaling by Activin
    Developmental Biology
    Signal Transduction
    Signaling by NODAL
    Regulation of Signaling by NODAL


    1         Kegg Pathway  (Kegg details for ACVR1B):
        Cytokine-cytokine receptor interaction


    ACVR1B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACVR1B

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

    5/30 Interacting proteins for ACVR1B (P368961, 3 ENSP000002579634) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD7O151053, ENSP000002621584I2D: score=4 STRING: ENSP00000262158
    ACVR2BQ137053, ENSP000003403614I2D: score=3 STRING: ENSP00000340361
    SMAD2Q157963, ENSP000002621604I2D: score=3 STRING: ENSP00000262160
    SNX2O607493, ENSP000003688314I2D: score=3 STRING: ENSP00000368831
    FKBP1AP629423, ENSP000003711384I2D: score=2 STRING: ENSP00000371138
    About this table

    Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle IDA11117535
    GO:0001701in utero embryonic development IEA--
    GO:0001942hair follicle development IEA--
    GO:0006355regulation of transcription, DNA-dependent IDA12665502
    GO:0006468protein phosphorylation IDA12065756

    ACVR1B for ontologies           About GeneDecksing



    Drugs & Compounds
    for ACVR1B gene

    (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

    ACVR1B for compounds           About GeneDecksing

    EMD Millipore small molecules for ACVR1B:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ACVR1B available from Tocris Bioscience    About this table
    CompoundAction CAS #
    A 83-01 Selective inhibitor of TGF-betaRI, ALK4 and ALK7 [909910-43-6]
    SB 431542 Potent, selective inhibitor of TGF-betaRI, ALK4 and ALK7 [301836-41-9]
    DMH-1BMP inhibitor; selectively inhibits ALK2[1206711-16-1]

    4 HMDB Compounds for ACVR1B    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 ACVR1B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17139284 17016423

    3 Novoseek chemical compound relationships for ACVR1B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 67.2 4 12853652 (1), 12682303 (1), 11909953 (1), 12665502 (1)
    serine 56.4 6 10746731 (1), 12853652 (1), 12682303 (1), 12665502 (1)
    alanine 6.48 1 12665502 (1)

    Search CenterWatch for drugs/clinical trials and news about ACVR1B / ACV1B 

    Transcripts
    for ACVR1B gene

    (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 ACVR1B gene (3 alternative transcripts): 
    NM_004302.4  NM_020327.3  NM_020328.3  

    Unigene Cluster for ACVR1B:

    Activin A receptor, type IB
    Hs.438918  [show with all ESTs]
    Unigene Representative Sequence: NM_020328
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000257963(uc010snn.2 uc001rzn.3 uc021qya.1) ENST00000563546
    ENST00000541224 ENST00000426655(uc001rzm.3) ENST00000536420 ENST00000415850(uc001rzl.3)
    ENST00000542485 ENST00000563121

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 3): ACVR1B
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACVR1B
    8/92 QIAGEN miScript miRNA Assays for microRNAs that regulate ACVR1B (see all 92):
    hsa-miR-642a hsa-miR-106a hsa-miR-218-1* hsa-miR-574-3p hsa-miR-371-5p hsa-miR-3142 hsa-miR-629* hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmid: ACVR1B 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK299120.1 AK299496.1 AL117643.1 BC000254.1 BC034008.1 BC040531.1 BT007072.1 L10125.1 
    L10126.1 U14722.1 Z22536.1 

    7 DOTS entries:

    DT.86845897  DT.100771615  DT.101976747  DT.87046577  DT.40220232  DT.75155814  DT.95330621 

    24/164 AceView cDNA sequences (see all 164):

    BE218448 BU943859 BU949388 BE857241 BE222346 AU131576 BT007072 AI192922 
    Z22536 BF111083 BF590767 BG150185 U14722 AA541401 BC000254 AI338930 
    AW026270 BF740083 BE222288 AA687606 NM_004302 AW772334 BE468035 CB529620 

    GeneLoc Exon Structure


    Expression
    for ACVR1B gene

    (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

    ACVR1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    ACVR1B Expression
    About this image

    ACVR1B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TrophoblastExtraembryonic EctodermExtraembryonic Ectoderm CellsExtraembryonic Tissues, Placenta
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ACVR1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACVR1B

    SOURCE GeneReport for Unigene cluster: Hs.438918

    UniProtKB/Swiss-Prot: ACV1B_HUMAN, P36896
    Tissue specificity: Expressed in many tissues, most strongly in kidney, pancreas, brain, lung, and liver

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              Apoptosis 384HT in human mouse rat

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    In Situ
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    Orthologs
    for ACVR1B gene

    (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 ACVR1B gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ACVR1B1 activin A receptor, type IB 81.6(n)
    91.87(a)    		   768878  XM_001231300.2  XP_001231301.2 
    lizard
    (Anolis carolinensis)    		 Reptilia ACVR1B6
    		 --
    		 87(a)
    		 1 ↔ 1
    		 2(92653351-92667148)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.10582 Xenopus laevis activin receptor-like kinase 4 (XALK4) more 79.94(n)    U60643.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii tarama2 tarama 78.86(n)   30183  NM_130990.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta babo3 TGFbeta ligand binding to type I receptor
    protein more    		 53(a)
    (best of 2)    		   44F12   --
    worm
    (Caenorhabditis elegans)    		 Secernentea daf-13 protein kinase 42(a)
    (best of 2)    		   IV(132451-137621)   --


    ENSEMBL Gene Tree for ACVR1B (if available)
    TreeFam Gene Tree for ACVR1B (if available) 

    Paralogs
    for ACVR1B gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACVR1B gene
    TGFBR22  ACVR1C2  AMHR22  ACVR2A2  ACVR2B2  TGFBR12  BMPR1A2  ACVR12  
    BMPR22  ACVRL12  BMPR1B2  
    9 SIMAP similar genes for ACVR1B using alignment to 2 protein entries:     ACV1B_HUMAN (see all proteins):
    ACVR1C    TGFBR1    BMPR1B    ACVRL1    ACVR1    BMPR1A
    ACVR2A    TGFBR2    ACVR2B

    ACVR1B for paralogs           About GeneDecksing



    Genomic Variants
    for ACVR1B gene

    (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

    10/656 NCBI SNPs in ACVR1B are shown (see all 656)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs730947451,2
    		C,F--49377326(+) AAAAAT/CATTTA 2 -- us2k11Minor allele frequency- C:0.12NA 120
    rs750463291,2
    		--49377721(+) AGATTC/TTAAGG 2 -- us2k10--------
    rs1144989031,2
    		C,F--49379296(+) CCTCCT/CCGCCT 3 -- int1 us2k11Minor allele frequency- C:0.03WA 118
    rs1127245391,2
    		--49379468(+) TGCCTC/TTTCCC 3 -- int1 us2k11Minor allele frequency- T:0.50CSA 2
    rs569661971,2
    		F--49379654(+) ATTTCA/TTTTAA 3 -- int1 us2k11Minor allele frequency- T:0.04WA 118
    rs1136100981,2
    		--49380187(+) GAATAG/AGGATG 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs740948591,2
    		C--49380543(+) AAAATA/GGGGAG 3 -- int12Minor allele frequency- G:0.07WA 120
    rs7982101,2
    		C,F,A,H--49380928(+) CAGTGA/GTAAGG 3 -- int117Minor allele frequency- G:0.16EA NA NS WA 2064
    rs563605581,2
    		C--49381530(+) GCTGGG/ATTACT 3 -- int12Minor allele frequency- A:0.04WA 120
    rs745417441,2
    		C--49381723(+) TGGAGG/AGAGTG 3 -- int11Minor allele frequency- A:0.01WA 118

    HapMap Linkage Disequilibrium report for ACVR1B (52345451 - 52390863 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ACVR1B
         2 Indels: 39903 41675
    Human Gene Mutation Database (HGMD): ACVR1B

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    Disorders / Diseases
    for ACVR1B gene

    (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
    ACVR1B for disorders           About GeneDecksing

    OMIM gene information: 601300    OMIM disorders: --

    UniProtKB/Swiss-Prot: ACV1B_HUMAN, P36896
  • Note=ACVRIB is abundantly expressed in systemic sclerosis patient fibroblasts and production of collagen is
    • also induced by activin-A/INHBA. This suggests that the activin/ACRV1B signaling mechanism is involved in systemic
    sclerosis

    20/24 diseases for ACVR1B (see all 24):    About MalaCards
    pituitary tumor    pre-eclampsia    traumatic brain injury    pancreatic cancer, somatic
    brain injury    pituitary adenoma    pancreatic cancer    eclampsia
    goiter    pancreatitis    pheochromocytoma    adenoma
    pancreatic carcinoma    pharyngitis    colorectal cancer    prostate cancer
    asthma    neuroblastoma    retinitis    prostatitis

    3 Novoseek disease relationships for ACVR1B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pancreatic cancer 8.9 2 11248065 (1), 9714055 (1)
    tumors 0 1 8636304 (1)
    cancer 0 3 15753386 (1), 9714055 (1), 11511564 (1)

    Human Genome Epidemiology (HuGE) Navigator: ACVR1B (5 documents)

    Export disorders for ACVR1B gene to outside databases

    Publications
    for ACVR1B gene

    (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 ACVR1B gene, integrated from 9 sources (see all 113):
    (articles sorted by number of sources associating them with ACVR1B)    		    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. (1993)
    2. Identification of a functional binding site for activin on the type I receptor ALK4. (PubMed id 12665502)1, 2, 9 Harrison C.A....Vale W. (2003)
    3. Activation of signalling by the activin receptor complex. (PubMed id 8622651)1, 2, 9 Attisano L....Massague J. (1996)
    4. Type I receptors specify growth-inhibitory and transcriptional responses to transforming growth factor beta and activin. (PubMed id 8196624)1, 2, 9 Carcamo J....Massague J. (1994)
    5. Cripto-1 activates nodal- and ALK4-dependent and -independent signaling pathways in mammary epithelial Cells. (PubMed id 11909953)1, 2, 9 Bianco C....Salomon D.S. (2002)
    6. Activin A induces neuronal differentiation and surviv al via ALK4 in a SMAD-independent manner in a subpopulation of human neuroblast omas. (PubMed id 20226172)1, 2, 9 Suzuki K....Ikekita M. (2010)
    7. Activin signaling through type IB activin receptor stimulates aromatase activity in the ovarian granulosa cell-like human granulosa (KGN) cells. (PubMed id 12639945)1, 2, 9 Mukasa C....Nawata H. (2003)
    8. Modulation of activin signal transduction by inhibin B and inhibin- binding protein (INhBP). (PubMed id 11266516)1, 2, 9 Chapman S.C. and Woodruff T.K. (2001)
    9. FKBP12 functions as an adaptor of the Smad7-Smurf1 complex on activin type I receptor. (PubMed id 16720724)1, 2, 9 Yamaguchi T....Sugino H. (2006)
    10. Activation of the activin A-ALK-Smad pathway in systemic sclerosis. (PubMed id 21377836)1, 2 Takagi K.... Yamanaka H. (2011)

    External Searches for ACVR1B gene

    (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)

    Genome Databases showing ACVR1B gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 91 HGNC: 172 AceView: ACVR1B Ensembl:ENSG00000135503 euGenes: HUgn91
    ECgene: ACVR1B Kegg: 91 H-InvDB: ACVR1B

    Other Databases showing ACVR1B gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACVR1B gene

    (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 ACVR1B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACVR1B Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for ACVR1B gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ACVR1B gene:
    Search GeneIP for patents involving ACVR1B

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



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    About This Section

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