Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ACVR1 Gene

Aliases for ACVR1 Gene

  • Activin A Receptor, Type I 2 3
  • ACVRLK2 3 4 6
  • Serine/Threonine-Protein Kinase Receptor R1 3 4
  • TGF-B Superfamily Receptor Type I 3 4
  • Activin Receptor-Like Kinase 2 3 4
  • Activin Receptor Type I 3 4
  • EC 2.7.11.30 4 64
  • ALK2 3 6
  • SKR1 3 4
  • FOP 3 6
  • Activin A Receptor, Type II-Like Kinase 2 3
  • Hydroxyalkyl-Protein Kinase 3
  • Activin Receptor Type-1 3
  • EC 2.7.11 64
  • ACVR1A 3
  • ACTR-I 4
  • ACTRI 3
  • ALK-2 4
  • TSR-I 4
  • TSRI 3

External Ids for ACVR1 Gene

Previous Symbols for ACVR1 Gene

  • ACVRLK2

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 I) is a Protein Coding gene. Diseases associated with ACVR1 include fibrodysplasia ossificans progressiva and osteochondroma. Among its related pathways are Akt 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

Genomic Location for ACVR1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACVR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACVR1 Gene

Regulatory Elements 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
    Secondary Accessions:

    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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn102

Domains for ACVR1 Gene

UniProtKB/Swiss-Prot:

ACVR1_HUMAN
Domain:
  • Contains 1 GS domain.:
    • Q04771
  • Contains 1 protein kinase domain.:
    • Q04771
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.:
    • Q04771
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 IDA 19736306
GO:0004674 protein serine/threonine kinase activity IDA 12065756
GO:0004675 transmembrane receptor protein serine/threonine kinase activity NAS 8242742
GO:0004702 receptor signaling protein serine/threonine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
genes like me logo Genes that share ontologies with ACVR1: view
genes like me logo Genes that share phenotypes with ACVR1: view

Animal Models for ACVR1 Gene

MGI Knock Outs for ACVR1:

No data available for Transcription Factor Targeting 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 2
cytosol 1
endoplasmic reticulum 1
nucleus 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 --
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 for ACVR1 Gene

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

Pathways by source for ACVR1 Gene

1 Cell Signaling Technology pathway for ACVR1 Gene
3 BioSystems pathways for ACVR1 Gene

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 patterning of blood vessels IEA --
GO:0001655 urogenital system development IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001702 gastrulation with mouth forming second IEA --
genes like me logo Genes that share ontologies with ACVR1: view

Compounds for ACVR1 Gene

(8) HMDB Compounds for ACVR1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5

(2) Drugbank Compounds for ACVR1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
6-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine
target
Adenosine triphosphate
  • 5'-ATP
56-65-5 target

(3) Novoseek inferred chemical compound relationships for ACVR1 Gene

Compound -log(P) Hits PubMed IDs
threonine 64.8 4
serine 52.2 5
oligonucleotide 0 1
genes like me logo Genes that share compounds with ACVR1: view

Transcripts for ACVR1 Gene

Unigene Clusters for ACVR1 Gene

Activin A receptor, type I:
Representative Sequences:

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with ACVR1: view

Orthologs for ACVR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACVR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACVR1 36
  • 99.61 (n)
  • 99.8 (a)
ACVR1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACVR1 36
  • 93.12 (n)
  • 99.21 (a)
ACVR1 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACVR1 36
  • 93.98 (n)
  • 99.21 (a)
ACVR1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acvr1 36
  • 90.64 (n)
  • 98.43 (a)
Acvr1 16
Acvr1 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACVR1 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACVR1 37
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acvr1 36
  • 89.46 (n)
  • 97.25 (a)
chicken
(Gallus gallus)
Aves ACVR1 36
  • 77.53 (n)
  • 85.6 (a)
ACVR1 37
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACVR1 37
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia xALK-2 36
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr1 36
  • 73.87 (n)
  • 81.93 (a)
Str.6508 36
zebrafish
(Danio rerio)
Actinopterygii acvr1l 36
  • 65.61 (n)
  • 70.25 (a)
acvr1l 37
  • 66 (a)
OneToOne
alk8 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007729 36
  • 56.02 (n)
  • 54.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta sax 36
  • 57.11 (n)
  • 57.11 (a)
sax 37
  • 46 (a)
OneToMany
sax 38
  • 54 (a)
tkv 38
  • 44 (a)
babo 38
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea sma-6 38
  • 39 (a)
daf-1 38
  • 39 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8463 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs12936 -- 157,737,486(-) TCATT(G/T)TCCAG utr-variant-3-prime
rs12997 -- 157,736,845(-) TGCTT(C/T)GTGCA utr-variant-3-prime
rs920522 -- 157,849,312(+) TTGTT(C/T)CAAAC intron-variant
rs935082 -- 157,807,508(-) CGTTG(A/G)AGAAT intron-variant
rs1036737 -- 157,860,643(-) TTAAT(A/T)GTGTA intron-variant

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

Relevant External Links for ACVR1 Gene

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

Disorders for ACVR1 Gene

(1) OMIM Diseases for ACVR1 Gene (102576)

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.

(2) University of Copenhagen DISEASES for ACVR1 Gene

(7) Novoseek inferred disease relationships for ACVR1 Gene

Disease -log(P) Hits PubMed IDs
fibrodysplasia ossificans progressiva 86 7
ossification heterotopic 64.8 3
pancreatic cancer 16.5 2
inflammation 1.11 1
tumors 0 2

Relevant External Links for ACVR1

Genetic Association Database (GAD)
ACVR1
Human Genome Epidemiology (HuGE) Navigator
ACVR1
genes like me logo Genes that share disorders with ACVR1: view

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
  2. 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 23
  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 23 49
  4. 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 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for ACVR1 Gene

  • Addgene plasmids for ACVR1

Sources for ACVR1 Gene

Back to Top

Content