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Aliases for ACVR1 Gene

Aliases for ACVR1 Gene

  • Activin A Receptor Type 1 2 3 5
  • Serine/Threonine-Protein Kinase Receptor R1 3 4
  • TGF-B Superfamily Receptor Type I 3 4
  • Activin Receptor-Like Kinase 2 3 4
  • Activin A Receptor, Type I 2 3
  • Activin Receptor Type I 3 4
  • EC 4 61
  • ACVRLK2 3 4
  • SKR1 3 4
  • Activin A Receptor, Type II-Like Kinase 2 3
  • Hydroxyalkyl-Protein Kinase 3
  • Activin Receptor Type-1 3
  • EC 2.7.11 61
  • ACVR1A 3
  • ACTR-I 4
  • ACTRI 3
  • ALK-2 4
  • TSR-I 4
  • ALK2 3
  • TSRI 3
  • FOP 3

External Ids for ACVR1 Gene

Previous HGNC Symbols for ACVR1 Gene


Previous GeneCards Identifiers for ACVR1 Gene

  • GC02M156524
  • GC02M157121
  • GC02M158557
  • GC02M158795
  • GC02M158418
  • GC02M158301
  • GC02M158594
  • GC02M150478

Summaries for ACVR1 Gene

Entrez Gene Summary for ACVR1 Gene

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

GeneCards Summary for ACVR1 Gene

ACVR1 (Activin A Receptor Type 1) is a Protein Coding gene. Diseases associated with ACVR1 include Fibrodysplasia Ossificans Progressiva and Diffuse Intrinsic Pontine Glioma. Among its related pathways are DREAM Repression and Dynorphin Expression and Akt Signaling. GO annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is ACVRL1.

UniProtKB/Swiss-Prot for ACVR1 Gene

  • On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity).

Gene Wiki entry for ACVR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACVR1 Gene

Genomics for ACVR1 Gene

Regulatory Elements for ACVR1 Gene

Enhancers for ACVR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F157410 1.4 FANTOM5 Ensembl ENCODE 13.6 +459.2 459188 11.7 TBP PKNOX1 ATF1 TBL1XR1 BMI1 CBX5 ETV6 CREM CBFB CEBPB CYTIP ACVR1 FAM133DP ERMN GPD2 LOC105373711 GC02M157436
GH02F157896 1.3 Ensembl ENCODE 12.4 -23.0 -23007 3.8 HDGF PKNOX1 ATF1 ZFP64 ZNF2 GATA2 ZNF143 FOS MCM3 JUNB ACVR1 RNU6-932P RNU6-436P ENSG00000270557
GH02F157781 0.9 Ensembl ENCODE 12.1 +89.1 89061 10.0 PKNOX1 ATF1 ARNT CREB3L1 YY1 ELK1 GATA2 ZNF263 NCOA1 REST ACVR1 RNU6-932P CCDC148 GC02M157769 GC02P157838
GH02F157836 1.1 ENCODE 12 +36.5 36527 6.6 PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ACVR1 PKP4 GC02P157838 GC02P157874
GH02F158008 1 Ensembl ENCODE 11.7 -133.6 -133570 1.2 ATF1 ESRRA BCL11B RAD21 ATF2 NR2F2 TFDP1 MEF2D RAD51 ATF3 ACVR1 RNU6-932P GC02M157986 PTP4A1P1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ACVR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACVR1 Gene

157,736,444 bp from pter
157,875,862 bp from pter
139,419 bases
Minus strand

Genomic View for ACVR1 Gene

Genes around ACVR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACVR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACVR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACVR1 Gene

Proteins for ACVR1 Gene

  • Protein details for ACVR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Activin receptor type-1
    Protein Accession:

    Protein attributes for ACVR1 Gene

    509 amino acids
    Molecular mass:
    57153 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with FKBP1A. Interacts with FCHO1.

    Three dimensional structures from OCA and Proteopedia for ACVR1 Gene

neXtProt entry for ACVR1 Gene

Selected DME Specific Peptides for ACVR1 Gene


Post-translational modifications for ACVR1 Gene

  • Glycosylation at Asn 102
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ACVR1 (Activin RIA/ALK-2)
  • Cell Signaling Technology (CST) Antibodies for ACVR1 (ALK2)
  • Santa Cruz Biotechnology (SCBT) Antibodies for ACVR1

Domains & Families for ACVR1 Gene

Suggested Antigen Peptide Sequences for ACVR1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 GS domain.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
  • Contains 1 GS domain.
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
genes like me logo Genes that share domains with ACVR1: view

Function for ACVR1 Gene

Molecular function for ACVR1 Gene

GENATLAS Biochemistry:
activin receptor type 1,member of transforming growth factor beta superfamily
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.
UniProtKB/Swiss-Prot Function:
On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity).

Enzyme Numbers (IUBMB) for ACVR1 Gene

Gene Ontology (GO) - Molecular Function for ACVR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IDA 19736306
GO:0004674 protein serine/threonine kinase activity IDA 12065756
GO:0004675 transmembrane receptor protein serine/threonine kinase activity NAS 8242742
GO:0004702 signal transducer, downstream of receptor, with serine/threonine kinase activity IEA --
genes like me logo Genes that share ontologies with ACVR1: view
genes like me logo Genes that share phenotypes with ACVR1: view

Human Phenotype Ontology for ACVR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACVR1 Gene

MGI Knock Outs for ACVR1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ACVR1 Gene

Localization for ACVR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACVR1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

Jensen Localization Image for ACVR1 Gene COMPARTMENTS Subcellular localization image for ACVR1 gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 3
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ACVR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IDA 8242742
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0045177 apical part of cell IEA --
GO:0048179 activin receptor complex IDA 8242742
genes like me logo Genes that share ontologies with ACVR1: view

Pathways & Interactions for ACVR1 Gene

genes like me logo Genes that share pathways with ACVR1: view

Pathways by source for ACVR1 Gene

SIGNOR curated interactions for ACVR1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ACVR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle IMP 9884026
GO:0001569 branching involved in blood vessel morphogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001702 gastrulation with mouth forming second IEA --
GO:0001707 mesoderm formation IEA --
genes like me logo Genes that share ontologies with ACVR1: view

Drugs & Compounds for ACVR1 Gene

(12) Drugs for ACVR1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra Target 0
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 510
Warfarin Approved Pharma 454
Manganese Approved Nutra 34
Menadione Approved Nutra 230

(2) Additional Compounds for ACVR1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0

(2) ApexBio Compounds for ACVR1 Gene

Compound Action Cas Number
DMH-1 Selective BMP ALK2 receptor 1206711-16-1
LDN-193189 ALK inhibitor,potent and selective 1062368-24-4
genes like me logo Genes that share compounds with ACVR1: view

Drug Products

Transcripts for ACVR1 Gene

Unigene Clusters for ACVR1 Gene

Activin A receptor, type I:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACVR1 Gene

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

Relevant External Links for ACVR1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACVR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACVR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACVR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (46.9) and Placenta (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACVR1 Gene

Protein tissue co-expression partners for ACVR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACVR1 Gene:


SOURCE GeneReport for Unigene cluster for ACVR1 Gene:


mRNA Expression by UniProt/SwissProt for ACVR1 Gene:

Tissue specificity: Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells.
genes like me logo Genes that share expression patterns with ACVR1: view

Primer Products

No data available for mRNA differential expression in normal tissues for ACVR1 Gene

Orthologs for ACVR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACVR1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ACVR1 34 35
  • 99.61 (n)
(Canis familiaris)
Mammalia ACVR1 34 35
  • 93.98 (n)
(Bos Taurus)
Mammalia ACVR1 34 35
  • 93.12 (n)
(Mus musculus)
Mammalia Acvr1 16 35 34
  • 90.64 (n)
(Rattus norvegicus)
Mammalia Acvr1 34
  • 89.46 (n)
(Ornithorhynchus anatinus)
Mammalia ACVR1 35
  • 85 (a)
(Monodelphis domestica)
Mammalia ACVR1 35
  • 82 (a)
(Gallus gallus)
Aves ACVR1 34 35
  • 77.53 (n)
(Anolis carolinensis)
Reptilia ACVR1 35
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr1 34
  • 73.87 (n)
Str.6508 34
African clawed frog
(Xenopus laevis)
Amphibia xALK-2 34
(Danio rerio)
Actinopterygii acvr1l 34 35
  • 65.61 (n)
alk8 34
fruit fly
(Drosophila melanogaster)
Insecta sax 36 34 35
  • 57.11 (n)
babo 36
  • 48 (a)
tkv 36
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007729 34
  • 56.02 (n)
(Caenorhabditis elegans)
Secernentea daf-1 36
  • 39 (a)
sma-6 36
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8463 34
Species where no ortholog for ACVR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACVR1 Gene

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

Paralogs for ACVR1 Gene

genes like me logo Genes that share paralogs with ACVR1: view

Variants for ACVR1 Gene

Sequence variations from dbSNP and Humsavar for ACVR1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121912678 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100], Pathogenic 157,774,114(-) GGCTC(A/C/G)CCAGA reference, missense
rs121912679 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100], Pathogenic 157,761,077(-) TTCAG(A/G)CCTGG reference, missense
rs387906588 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100], Pathogenic 157,766,005(-) CCCAA(G/T)GGAAA reference, missense
rs387906589 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100], Pathogenic 157,766,004(-) CCAAG(A/G)GAAAC reference, missense
rs387906590 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100], Pathogenic 157,761,020(-) TCCCC(C/G)TGTGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ACVR1 Gene

Variant ID Type Subtype PubMed ID
dgv2073n106 CNV deletion 24896259
esv1694256 CNV deletion 17803354
esv2223769 CNV deletion 18987734
esv2616379 CNV deletion 19546169
esv2721015 CNV deletion 23290073
esv3058 CNV loss 18987735
esv3560411 CNV deletion 23714750
esv3593065 CNV loss 21293372
esv6111 CNV loss 19470904
esv997183 CNV deletion 20482838
nsv1072460 CNV deletion 25765185
nsv1072986 CNV deletion 25765185
nsv1148977 CNV deletion 26484159
nsv527541 CNV loss 19592680
nsv583439 CNV loss 21841781
nsv956655 CNV deletion 24416366

Variation tolerance for ACVR1 Gene

Residual Variation Intolerance Score: 11.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.55; 30.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACVR1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACVR1 Gene

Disorders for ACVR1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ACVR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fibrodysplasia ossificans progressiva
  • myositis ossificans progressiva
diffuse intrinsic pontine glioma
  • dipg
osseous heteroplasia, progressive
  • fibrodysplasia ossificans progressiva
craniometaphyseal dysplasia
  • craniometaphyseal dysplasia, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search ACVR1 in MalaCards View complete list of genes associated with diseases


  • Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]: A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible. {ECO:0000269 PubMed:16642017, ECO:0000269 PubMed:19085907, ECO:0000269 PubMed:19330033}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACVR1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ACVR1: view

No data available for Genatlas for ACVR1 Gene

Publications for ACVR1 Gene

  1. Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. (PMID: 8397373) ten Dijke P. … Miyazono K. (Oncogene 1993) 2 3 4 22 64
  2. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. (PMID: 19085907) Kaplan F.S. … Shore E.M. (Hum. Mutat. 2009) 3 4 22 64
  3. Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome. (PMID: 18854405) Kevenaar M.E. … Visser J.A. (Hum. Reprod. 2009) 3 22 46 64
  4. A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor. (PMID: 8389764) Matsuzaki K. … McKeehan W.L. (J. Biol. Chem. 1993) 3 4 22 64
  5. Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium. (PMID: 20634197) Canzian F. … Feigelson H.S. (Hum. Mol. Genet. 2010) 3 46 64

Products for ACVR1 Gene

Sources for ACVR1 Gene

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