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    ACVR1B activin A receptor type 1B [ Homo sapiens (human) ]

    Gene ID: 91, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ACVR1Bprovided by HGNC
    Official Full Name
    activin A receptor type 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:172
    See related
    Ensembl:ENSG00000135503 MIM:601300; AllianceGenome:HGNC:172
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALK4; SKR2; ACTRIB; ACVRLK4
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 15.7), colon (RPKM 11.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACVR1B in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (51951699..51997078)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (51915269..51960644)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52345483..52390862)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene filamin-B-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52301449-52301957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52307107-52307940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52308586-52309472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52311731-52312303 Neighboring gene activin A receptor like type 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52317635-52318466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52334596-52335170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52335171-52335745 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:52345261-52345880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4477 Neighboring gene RNA, U6 small nuclear 574, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52399414-52400100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52401473-52402158 Neighboring gene TAMALIN antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52402769-52403422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52403423-52404076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52404077-52404730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52404731-52405383 Neighboring gene uncharacterized LOC124902934 Neighboring gene trafficking regulator and scaffold protein tamalin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52418471-52419408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52419409-52420346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4480 Neighboring gene nuclear receptor subfamily 4 group A member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Abundance of ACVR1B transcript is elevated during septic conditions: Perspectives obtained from a hands-on reductionist investigation. Preechanukul A, et al. Front Immunol, 2023. PMID 37020544, Free PMC Article
    2. Activin receptor ALK4 promotes adipose tissue hyperplasia by suppressing differentiation of adipocyte precursors. Lee ES, et al. J Biol Chem, 2023 Jan. PMID 36403856, Free PMC Article
    3. New function of the myostatin/activin type I receptor (ALK4) as a mediator of muscle atrophy and muscle regeneration. Pasteuning-Vuhman S, et al. FASEB J, 2017 Jan. PMID 27733450, Free PMC Article
    4. The Expression of Human Cytomegalovirus MicroRNA MiR-UL148D during Latent Infection in Primary Myeloid Cells Inhibits Activin A-triggered Secretion of IL-6. Lau B, et al. Sci Rep, 2016 Aug 5. PMID 27491954, Free PMC Article
    5. ACVR1B rs2854464 Is Associated with Sprint/Power Athletic Status in a Large Cohort of Europeans but Not Brazilians. Voisin S, et al. PLoS One, 2016. PMID 27253421, Free PMC Article

    See all (109) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Abundance of ACVR1B transcript is elevated during septic conditions: Perspectives obtained from a hands-on reductionist investigation.
      Title: Abundance of ACVR1B transcript is elevated during septic conditions: Perspectives obtained from a hands-on reductionist investigation.
    2. Activin receptor ALK4 promotes adipose tissue hyperplasia by suppressing differentiation of adipocyte precursors.
      Title: Activin receptor ALK4 promotes adipose tissue hyperplasia by suppressing differentiation of adipocyte precursors.
    3. Lack of Tgfbr1 and Acvr1b synergistically stimulates myofibre hypertrophy and accelerates muscle regeneration.
      Title: Lack of Tgfbr1 and Acvr1b synergistically stimulates myofibre hypertrophy and accelerates muscle regeneration.
    4. Implication of rare genetic variants of NODAL and ACVR1B in congenital heart disease patients from Indian population.
      Title: Implication of rare genetic variants of NODAL and ACVR1B in congenital heart disease patients from Indian population.
    5. Activin A increases human trophoblast invasion by upregulating integrin beta1 through ALK4.
      Title: Activin A increases human trophoblast invasion by upregulating integrin β1 through ALK4.
    6. ALK4-SMAD3/4 mediates the effects of activin A on the upregulation of PAI-1 in human granulosa lutein cells.
      Title: ALK4-SMAD3/4 mediates the effects of activin A on the upregulation of PAI-1 in human granulosa lutein cells.
    7. [Involvement of Notch1 and ALK4/5 Signaling Pathways in Renal Tubular Cell Death: Their Application to Clarification of Cadmium Toxicity].
      Title: [Involvement of Notch1 and ALK4/5 Signaling Pathways in Renal Tubular Cell Death: Their Application to Clarification of Cadmium Toxicity].
    8. Alterations in activin A-myostatin-follistatin system associate with disease activity in inflammatory myopathies.
      Title: Alterations in activin A-myostatin-follistatin system associate with disease activity in inflammatory myopathies.
    9. Blockade of ALK4/5 signaling suppresses cadmium- and erastin-induced cell death in renal proximal tubular epithelial cells via distinct signaling mechanisms.
      Title: Blockade of ALK4/5 signaling suppresses cadmium- and erastin-induced cell death in renal proximal tubular epithelial cells via distinct signaling mechanisms.
    10. Multiple emphysema apicobasal distribution loci colocalize to regulatory elements that are active across multiple tissues and cell types, and functional analyses confirm the presence of an emphysema apicobasal distribution-associated functional variant that regulates ACVR1B expression, indicating that transforming growth factor-b signaling plays a role in the emphysema apicobasal distribution phenotype.
      Title: Integrative Genomics Analysis Identifies ACVR1B as a Candidate Causal Gene of Emphysema Distribution.
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Carcinoma of pancreas
    MedGen: C0235974 OMIM: 260350 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables I-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables SMAD binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to activin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to activin receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables activin receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables activin receptor activity, type I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables activin receptor activity, type I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables activin receptor activity, type I TAS
    Traceable Author Statement
    more info
    		 PubMed 
    contributes_to growth factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables inhibin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables transmembrane receptor protein serine/threonine kinase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in activin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in activin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in activin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell surface receptor protein serine/threonine kinase signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nodal signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of activin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of erythrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of trophoblast cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of activin receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of activin receptor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    activin receptor type-1B
    Names
    activin A receptor, type IB
    activin A receptor, type II-like kinase 4
    activin receptor-like kinase 4
    serine/threonine-protein kinase receptor R2
    NP_001399703.1
    NP_001399704.1
    NP_001399705.1
    NP_001399706.1
    NP_001399707.1
    NP_001399708.1
    NP_001399709.1
    NP_001399710.1
    NP_001399711.1
    NP_001399713.1
    NP_001399714.1
    NP_001399715.1
    NP_004293.1
    NP_064732.3
    NP_064733.3
    XP_011537269.1
    XP_047285812.1
    XP_047285813.1
    XP_047285814.1
    XP_054229758.1
    XP_054229759.1
    XP_054229760.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_022926.1 RefSeqGene

      Range
      5033..50412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001412774.1 → NP_001399703.1  activin receptor type-1B isoform d precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259

    2. NM_001412775.1 → NP_001399704.1  activin receptor type-1B isoform e precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259

    3. NM_001412776.1 → NP_001399705.1  activin receptor type-1B isoform f precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259

    4. NM_001412777.1 → NP_001399706.1  activin receptor type-1B isoform g precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259

    5. NM_001412778.1 → NP_001399707.1  activin receptor type-1B isoform b

      Status: REVIEWED

      Source sequence(s)
      AC025259

    6. NM_001412779.1 → NP_001399708.1  activin receptor type-1B isoform b

      Status: REVIEWED

      Source sequence(s)
      AC025259

    7. NM_001412780.1 → NP_001399709.1  activin receptor type-1B isoform b

      Status: REVIEWED

      Source sequence(s)
      AC025259

    8. NM_001412781.1 → NP_001399710.1  activin receptor type-1B isoform b

      Status: REVIEWED

      Source sequence(s)
      AC025259

    9. NM_001412782.1 → NP_001399711.1  activin receptor type-1B isoform h precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259

    10. NM_001412784.1 → NP_001399713.1  activin receptor type-1B isoform i precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259

    11. NM_001412785.1 → NP_001399714.1  activin receptor type-1B isoform j precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259

    12. NM_001412786.1 → NP_001399715.1  activin receptor type-1B isoform k precursor

      Status: REVIEWED

      Source sequence(s)
      AC025259

    13. NM_004302.5 → NP_004293.1  activin receptor type-1B isoform a precursor

      See identical proteins and their annotated locations for NP_004293.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (a).
      Source sequence(s)
      AC025259, BC000254
      Consensus CDS
      CCDS8816.1
      UniProtKB/Swiss-Prot
      B7Z5L8, B7Z5W5, P36896, Q15479, Q15480, Q15481, Q15482
      Related
      ENSP00000257963.4, ENST00000257963.9
      Conserved Domains (3) summary
      smart00467
      Location:177 → 207
      GS; GS motif
      cd14143
      Location:211 → 498
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam01064
      Location:36 → 104
      Activin_recp; Activin types I and II receptor domain

    14. NM_020327.5 → NP_064732.3  activin receptor type-1B isoform b

      See identical proteins and their annotated locations for NP_064732.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform 1. Variants 2 and 8-11 all encode the same isoform (b).
      Source sequence(s)
      AC025259
      Consensus CDS
      CCDS44893.2
      UniProtKB/Swiss-Prot
      P36896
      Related
      ENSP00000442885.1, ENST00000542485.1
      Conserved Domains (2) summary
      smart00467
      Location:125 → 155
      GS; GS motif
      cd14143
      Location:159 → 446
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors

    15. NM_020328.4 → NP_064733.3  activin receptor type-1B isoform c precursor

      See identical proteins and their annotated locations for NP_064733.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame exon, compared to variant 1. The encoded isoform (c) is longer than isoform a.
      Source sequence(s)
      AC025259, AK299120, BC000254
      Consensus CDS
      CCDS44894.2
      UniProtKB/Swiss-Prot
      P36896
      Related
      ENSP00000442656.1, ENST00000541224.5
      Conserved Domains (3) summary
      cd14143
      Location:211 → 539
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam01064
      Location:32 → 105
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:178 → 205
      TGF_beta_GS; Transforming growth factor beta type I GS-motif

    RNA

    1. NR_182041.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC025259

    2. NR_182042.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC025259

    3. NR_182043.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC025259

    4. NR_182044.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC025259

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      51951699..51997078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429858.1 → XP_047285814.1  activin receptor type-1B isoform X1

    2. XM_011538967.4 → XP_011537269.1  activin receptor type-1B isoform X2

      Conserved Domains (3) summary
      pfam01064
      Location:32 → 109
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:178 → 205
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
      cl21453
      Location:211 → 270
      PKc_like; Protein Kinases, catalytic domain

    3. XM_047429856.1 → XP_047285812.1  activin receptor type-1B isoform X1

    4. XM_047429857.1 → XP_047285813.1  activin receptor type-1B isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      51915269..51960644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373784.1 → XP_054229759.1  activin receptor type-1B isoform X1

    2. XM_054373785.1 → XP_054229760.1  activin receptor type-1B isoform X2

    3. XM_054373783.1 → XP_054229758.1  activin receptor type-1B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P36896.1 GenPept UniProtKB/Swiss-Prot:P36896

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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