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Aliases for ACVR1 Gene

Aliases for ACVR1 Gene

  • Activin A Receptor Type 1 2 3
  • 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 A Receptor Type I 3 5
  • Activin Receptor Type I 3 4
  • EC 2.7.11.30 4 63
  • ACVRLK2 3 4
  • SKR1 3 4
  • Activin A Receptor, Type II-Like Kinase 2 3
  • Hydroxyalkyl-Protein Kinase 3
  • EC 2.7.11 63
  • 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

  • ACVRLK2

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 osseous heteroplasia, progressive. Among its related pathways are ERK Signaling and Akt Signaling. GO annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is TGFBR2.

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

Genomic Location for ACVR1 Gene

Chromosome:
2
Start:
157,736,444 bp from pter
End:
157,875,862 bp from pter
Size:
139,419 bases
Orientation:
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:
    Q04771-ACVR1_HUMAN
    Recommended name:
    Activin receptor type-1
    Protein Accession:
    Q04771

    Protein attributes for ACVR1 Gene

    Size:
    509 amino acids
    Molecular mass:
    57153 Da
    Cofactor:
    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

Proteomics data for ACVR1 Gene at MOPED

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)

Domains & Families for ACVR1 Gene

Suggested Antigen Peptide Sequences for ACVR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q04771

UniProtKB/Swiss-Prot:

ACVR1_HUMAN :
  • Contains 1 GS domain.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Domain:
  • Contains 1 GS domain.
  • Contains 1 protein kinase domain.
Family:
  • 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:0004672 protein kinase activity IEA,IDA 19736306
GO:0005025 transforming growth factor beta receptor activity, type I IEA --
GO:0017046 peptide hormone binding NAS 12702211
GO:0019838 growth factor binding IEA --
GO:0046332 SMAD binding IDA 12065756
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

In Situ Assay 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

COMPARTMENTS
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:0016020 membrane IEA --
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

Activates:
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:0001701 in utero embryonic development IEA --
GO:0001702 gastrulation with mouth forming second IEA --
GO:0001707 mesoderm formation IEA --
GO:0001755 neural crest cell migration IEA --
genes like me logo Genes that share ontologies with ACVR1: view

Drugs & Compounds for ACVR1 Gene

(12) Drugs for ACVR1 Gene - From: HMDB, DrugBank, ApexBio, 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 493
Warfarin Approved Pharma 422
Menadione Approved Nutra 199
6-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 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
SP1:
SP2: - -
SP3: - -
SP4: - - -

Relevant External Links for ACVR1 Gene

GeneLoc Exon Structure for
ACVR1
ECgene alternative splicing isoforms for
ACVR1

Expression for ACVR1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for ACVR1 Gene



SOURCE GeneReport for Unigene cluster for ACVR1 Gene Hs.470316

mRNA Expression by UniProt/SwissProt for ACVR1 Gene

Q04771-ACVR1_HUMAN
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

Protein tissue co-expression partners for ACVR1 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ACVR1 35
  • 93.12 (n)
  • 99.21 (a)
ACVR1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACVR1 35
  • 93.98 (n)
  • 99.21 (a)
ACVR1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acvr1 35
  • 90.64 (n)
  • 98.43 (a)
Acvr1 16
Acvr1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACVR1 35
  • 99.61 (n)
  • 99.8 (a)
ACVR1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acvr1 35
  • 89.46 (n)
  • 97.25 (a)
oppossum
(Monodelphis domestica)
Mammalia ACVR1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACVR1 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACVR1 35
  • 77.53 (n)
  • 85.6 (a)
ACVR1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACVR1 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr1 35
  • 73.87 (n)
  • 81.93 (a)
Str.6508 35
African clawed frog
(Xenopus laevis)
Amphibia xALK-2 35
zebrafish
(Danio rerio)
Actinopterygii acvr1l 35
  • 65.61 (n)
  • 70.25 (a)
alk8 35
acvr1l 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta babo 37
  • 48 (a)
sax 37
  • 54 (a)
tkv 37
  • 44 (a)
sax 35
  • 57.11 (n)
  • 57.11 (a)
sax 36
  • 46 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007729 35
  • 56.02 (n)
  • 54.49 (a)
worm
(Caenorhabditis elegans)
Secernentea daf-1 37
  • 39 (a)
sma-6 37
  • 39 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8463 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for ACVR1:
  • 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

ENSEMBL:
Gene Tree for ACVR1 (if available)
TreeFam:
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
VAR_028444 Fibrodysplasia ossificans progressiva (FOP)
rs13406336 - 157,799,450(+) GGAGA(C/G)CAATC reference, missense
rs55957214 - 157,780,546(+) CGCAG(A/G)AGAGA reference, missense
rs34056189 - 157,780,527(+) TCACA(C/G)TGGTC reference, missense
VAR_041395 A melanoma sample

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

Variant ID Type Subtype PubMed ID
nsv527541 CNV Loss 19592680
esv2616379 CNV Deletion 19546169
esv2223769 CNV Deletion 18987734
esv2721015 CNV Deletion 23290073
esv3058 CNV Deletion 18987735
esv997183 CNV Deletion 20482838
esv1694256 CNV Deletion 17803354
esv6111 CNV Loss 19470904

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

HapMap Linkage Disequilibrium report
ACVR1
Human Gene Mutation Database (HGMD)
ACVR1

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

Disorders for ACVR1 Gene

MalaCards: The human disease database

(5) 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
osseous heteroplasia, progressive
  • fibrodysplasia ossificans progressiva
ankylosis
craniometaphyseal dysplasia
  • craniometaphyseal dysplasia, autosomal dominant
acute contagious conjunctivitis
  • contagious opthalmia
- elite association - COSMIC cancer census association via MalaCards
Search ACVR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACVR1_HUMAN
  • 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)
ACVR1
Human Genome Epidemiology (HuGE) Navigator
ACVR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACVR1
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 23 67
  2. Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients. (PMID: 19796185) Carvalho D.R. … Speck-Martins C.E. (Clin. Genet. 2010) 3 23
  3. Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva. (PMID: 18684712) Fukuda T. … Katagiri T. (J. Biol. Chem. 2009) 3 23
  4. 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 23
  5. 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 23

Products for ACVR1 Gene

Sources for ACVR1 Gene

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