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ACVR1B Gene

protein-coding   GIFtS: 70
GCID: GC12P052375

Activin A Receptor, Type IB


(Previous symbol: ACVRLK4)
  See ACVR1B-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 IB1 2     ACTRIB2
ACVRLK41 2 3 5     Activin A Receptor, Type II-Like Kinase 42
ALK42 3 5     Activin Receptor Type-1B2
Activin Receptor-Like Kinase 42 3     ACTR-IB3
Serine/Threonine-Protein Kinase Receptor R22 3     ALK-43
SKR22 3     Activin Receptor Type IB3
EC 2.7.11.303 8     EC 2.7.118

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


(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 ACVR1B Gene:
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)

GeneCards Summary for ACVR1B Gene:
ACVR1B (activin A receptor, type IB) is a protein-coding gene. Diseases associated with ACVR1B include pituitary tumors, and pancreatic carcinoma, somatic. GO annotations related to this gene include protein serine/threonine kinase activity and SMAD binding. An important paralog of this gene is ACVR1C.

UniProtKB/Swiss-Prot: 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 Gene:
Activin receptors transduce signals carried by the TGF-beta 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 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the 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 plasmidACVR1B promoter sequence
   Search Chromatin IP Primers for ACVR1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: 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
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

Explore proteomics data for ACVR1B at MOPED

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
  • Ubiquitinated1
  • Glycosylation2 at Asn43
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACVR1B (P36896) (see all 15)
     IADLGLA  YMAPEVL  ASGLAHLH  RVGTKRYM 


    See ACVR1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_004293.1  NP_064732.3  NP_064733.3  

    ENSEMBL proteins: 
     ENSP00000257963   ENSP00000442656   ENSP00000390477   ENSP00000443218   ENSP00000397550  
     ENSP00000442885  
    Reactome Protein details: P36896

    ACVR1B Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for ACVR1B
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    Cloud-Clone Corp. Proteins for ACVR1B

     
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    antibodies-online proteins for ACVR1B (20 products) 

     
    antibodies-online peptides for ACVR1B

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    antibodies-online kits for ACVR1B (6 products) 


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

    Selected InterPro protein domains (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 domain: 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


    Find genes that share domains with ACVR1B           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: 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): Selected molecular function terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA12065756
    GO:0004675transmembrane receptor protein serine/threonine kinase activity NAS9032295
    GO:0004702receptor signaling protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
         
    Find genes that share ontologies with ACVR1B           About GenesLikeMe


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Acvr1b):
     cellular  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size/body  integument  mortality/aging  nervous system  no phenotypic analysis 
     normal  reproductive system  respiratory system 

    Find genes that share phenotypes with ACVR1B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ACVR1B: Acvr1btm1Enl Acvr1btm1.1Pbe

       genOway: Develop your customized and physiologically relevant rodent model for ACVR1B

    miRNA
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    miRTarBase miRNAs that target ACVR1B:
    hsa-let-7a-5p (MIRT052392), hsa-let-7c-5p (MIRT051801), hsa-mir-15a-5p (MIRT051312), hsa-mir-26b-5p (MIRT050048), hsa-mir-197-3p (MIRT048108), hsa-mir-7-5p (MIRT025920), hsa-mir-182-5p (MIRT047200), hsa-mir-210-3p (MIRT003185), hsa-mir-24-3p (MIRT003830)

    Block miRNA regulation of human, mouse, rat ACVR1B using miScript Target Protectors
    Selected qRT-PCR 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 plasmidACVR1B 3' UTR sequence
    Inhib. RNA
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    (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
    ACV1B_HUMAN, P36896: Cell membrane; Single-pass type I membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IDA9032295
    GO:0009986cell surface IDA12665502
    GO:0016020membrane ----

    Find genes that share ontologies with ACVR1B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACVR1B About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by NODAL
    Signaling by NODAL0.39
    Regulation of Signaling by NODAL0.00
    Signaling by Activin0.39
    2Apoptosis Pathway
    Apoptosis Pathway0.45
    Akt Pathway0.39
    NF-kappaB Pathway0.45
    3Human Embryonic Stem Cell Pluripotency
    Factors Promoting Cardiogenesis in Vertebrates0.50
    Human Embryonic Stem Cell Pluripotency0.50
    4L1CAM interactions
    Developmental Biology0.63
    5Signaling by GPCR
    Signal Transduction0.58


    Find genes that share SuperPaths with ACVR1B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe 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

    1 Sino Biological Pathway for ACVR1B
        TGF-beta Signaling Pathway

    3 Reactome Pathways for ACVR1B
        Signaling by Activin
    Signaling by NODAL
    Regulation of signaling by NODAL


    2 Kegg Pathways  (Kegg details for ACVR1B):
        Cytokine-cytokine receptor interaction
    TGF-beta signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACVR1B: 
              Stem Cell Signaling in human mouse rat
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACVR1B

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

    Selected Interacting proteins for ACVR1B (P368961, 3 ENSP000002579634) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD7O151051, 3, ENSP000002621584EBI-1384128,EBI-3861591 I2D: score=4 STRING: ENSP00000262158
    FKBP1AP629421, 3, ENSP000003711384EBI-1384128,EBI-1027571 I2D: score=2 STRING: ENSP00000371138
    ACVR2BQ137053, ENSP000003403614I2D: score=3 STRING: ENSP00000340361
    SMAD2Q157963, ENSP000002621604I2D: score=3 STRING: ENSP00000262160
    SNX2O607493, ENSP000003688314I2D: score=3 STRING: ENSP00000368831
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 23):    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-templated IDA12665502
    GO:0006468protein phosphorylation IDA12065756

    Find genes that share ontologies with ACVR1B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Compounds for ACVR1B available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AlantolactoneAntiproliferative; induces activin/SMAD3 signaling[546-43-0]
    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 inferred 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)



    Find genes that share compounds with ACVR1B           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for 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
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000257963(uc010snn.2 uc001rzn.3 uc021qya.1) ENST00000541224
    ENST00000426655(uc001rzm.3) ENST00000536420 ENST00000415850(uc001rzl.3)
    ENST00000542485 ENST00000563121
    miRNA
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    Selected qRT-PCR 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
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 164):

    F12114 BG111111 F09752 AW772334 N48845 BE222288 AA687606 BE468035 
    NM_004302 AW026270 AA480376 U14722 BE220397 AA541401 AI338930 CB218853 
    AI079778 BU949145 BX099760 BX956834 AI651763 BF740083 BC000254 BM810200 

    GeneLoc Exon Structure


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

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    ACVR1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ACVR1B Expression
    About this image


    ACVR1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Extraembryonic Ectoderm Cells Extraembryonic Ectoderm
     
     Brain (Nervous System)
             Cerebral Cortex
    ACVR1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACVR1B Protein Expression

    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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    (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 ACVR1B gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acvr1b1 , 5 activin A receptor, type 1B1, 5 90.83(n)1
    98.22(a)1
      15 (56.48 cM)5
    114791  NM_007395.31  NP_031421.11 
     1011741255 
    chicken
    (Gallus gallus)
    Aves ACVR1B1 activin A receptor, type IB 80.4(n)
    89.6(a)
      768878  XM_001231300.3  XP_001231301.3 
    lizard
    (Anolis carolinensis)
    Reptilia ACVR1B6
    activin A receptor, type IB
    86(a)
    1 ↔ 1
    2(92635380-92671021)
    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   --


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

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

    Find genes that share paralogs with ACVR1B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACVR1B (see all 821)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs97955551,2
    C--49420464(+) AAAAAC/GGAAGA 3 -- int1 trp30--------
    rs619140281,2
    C,F--52177839(+) AATTCG/ATGTCT 2 -- us2k15Minor allele frequency- A:0.19NA WA EA 362
    rs1866245181,2
    --52177939(+) AGGGTG/TGGCCC 2 -- us2k10--------
    rs1927354991,2
    --52177952(+) ATCCAA/GTGACT 2 -- us2k10--------
    rs1466939071,2
    --52178127(+) CAGAGA/TGCACA 2 -- us2k10--------
    rs1854441511,2
    --52178187(+) GAGAAG/TACATT 2 -- us2k10--------
    rs1403037271,2
    --52178629(+) GTTAGG/TAGGAA 2 -- us2k10--------
    rs1453651251,2
    --52178704(+) TTCTCA/TAGCTA 2 -- us2k10--------
    rs1162906871,2
    F--52178746(+) AGTGAT/CTTGTT 2 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1153298851,2
    F--52178747(+) GTGATT/CTGTTT 2 -- us2k11Minor allele frequency- C:0.01WA 118

    HapMap Linkage Disequilibrium report for ACVR1B (52345451 - 52390863 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ACVR1B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745889CNV Deletion23290073
    esv5144CNV Deletion18987735
    esv2745890CNV Deletion23290073
    esv2674142CNV Deletion23128226
    nsv525457CNV Loss19592680

    Human Gene Mutation Database (HGMD): ACVR1B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACVR1B
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 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

  • 2 diseases for ACVR1B:    
    About MalaCards
    pituitary tumors    pancreatic carcinoma, somatic


    Find genes that share disorders with ACVR1B           About GenesLikeMe

    3 Novoseek inferred 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)

    Genetic Association Database (GAD): ACVR1B
    Human Genome Epidemiology (HuGE) Navigator: ACVR1B (5 documents)

    Export disorders for ACVR1B 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 ACVR1B gene, integrated from 10 sources (see all 119):
    (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. (Oncogene 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. (J. Biol. Chem. 2003)
    3. Activation of signalling by the activin receptor complex. (PubMed id 8622651)1, 2, 9 Attisano L.... Massague J. (Mol. Cell. Biol. 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. (Mol. Cell. Biol. 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. (Mol. Cell. Biol. 2002)
    6. Activin A induces neuronal differentiation and survival via ALK4 in a SMAD-independent manner in a subpopulation of human neuroblastomas. (PubMed id 20226172)1, 2, 9 Suzuki K.... Ikekita M. (Biochem. Biophys. Res. Commun. 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. (Endocrinology 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. (Mol. Endocrinol. 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. (J. Mol. Endocrinol. 2006)
    10. Activation of the activin A-ALK-Smad pathway in systemic sclerosis. (PubMed id 21377836)1, 2 Takagi K.... Yamanaka H. (J. Autoimmun. 2011)

    (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: 91 HGNC: 172 AceView: ACVR1B Ensembl:ENSG00000135503 euGenes: HUgn91
    ECgene: ACVR1B Kegg: 91 H-InvDB: ACVR1B

    (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)
    About This Section

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

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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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