U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

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
Molecular Biology Databases
Research Materials
Tools
Miscellaneous