Human Gene ACVR1 (ENST00000434821.7) from GENCODE V43
  Description: Homo sapiens activin A receptor type 1 (ACVR1), transcript variant 2, mRNA. (from RefSeq NM_001111067)
RefSeq Summary (NM_001111067): 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].
Gencode Transcript: ENST00000434821.7
Gencode Gene: ENSG00000115170.16
Transcript (Including UTRs)
   Position: hg38 chr2:157,736,446-157,876,330 Size: 139,885 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg38 chr2:157,737,531-157,799,493 Size: 61,963 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-02-17 13:02:02

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr2:157,736,446-157,876,330)mRNA (may differ from genome)Protein (509 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Activin receptor type-1; EC=; AltName: Full=Activin receptor type I; Short=ACTR-I; AltName: Full=Activin receptor-like kinase 2; Short=ALK-2; AltName: Full=Serine/threonine-protein kinase receptor R1; Short=SKR1; AltName: Full=TGF-B superfamily receptor type I; Short=TSR-I; Flags: Precursor;
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).
CATALYTIC ACTIVITY: ATP + [receptor-protein] = ADP + [receptor- protein] phosphate.
COFACTOR: Magnesium or manganese (By similarity).
SUBUNIT: Interacts with FKBP1A. Interacts with FCHO1.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells.
DISEASE: Defects in ACVR1 are a cause of fibrodysplasia ossificans progressiva (FOP) [MIM:135100]. FOP is a rare autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification in FOP begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to extra-articular ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible.
SIMILARITY: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
SIMILARITY: Contains 1 GS domain.
SIMILARITY: Contains 1 protein kinase domain.
WEB RESOURCE: Name=GeneReviews; URL="";

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: ACVR1
Diseases sorted by gene-association score: fibrodysplasia ossificans progressiva* (1714), diffuse intrinsic pontine glioma (19), osseous heteroplasia, progressive (13), ankylosis (11), craniometaphyseal dysplasia (8), acute contagious conjunctivitis (5), ossification of the posterior longitudinal ligament of spine (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.72 RPKM in Cells - Cultured fibroblasts
Total median expression: 375.16 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -299.10717-0.417 Picture PostScript Text
3' UTR -260.301085-0.240 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000333 - Activin_II/TGFBeta-II_recpt
IPR000472 - Activin_rcpt
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR008271 - Ser/Thr_kinase_AS
IPR003605 - TGF_beta_rcpt_GS

Pfam Domains:
PF01064 - Activin types I and II receptor domain
PF00069 - Protein kinase domain
PF08515 - Transforming growth factor beta type I GS-motif

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3H9R - X-ray MuPIT 3MTF - X-ray MuPIT 3OOM - X-ray MuPIT 3Q4U - X-ray MuPIT 4DYM - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q04771
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004675 transmembrane receptor protein serine/threonine kinase activity
GO:0005025 transforming growth factor beta receptor activity, type I
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016361 activin receptor activity, type I
GO:0016740 transferase activity
GO:0017046 peptide hormone binding
GO:0019838 growth factor binding
GO:0042803 protein homodimerization activity
GO:0046332 SMAD binding
GO:0046872 metal ion binding
GO:0048185 activin binding
GO:0050431 transforming growth factor beta binding

Biological Process:
GO:0000082 G1/S transition of mitotic cell cycle
GO:0001569 branching involved in blood vessel morphogenesis
GO:0001701 in utero embryonic development
GO:0001702 gastrulation with mouth forming second
GO:0001707 mesoderm formation
GO:0001755 neural crest cell migration
GO:0002526 acute inflammatory response
GO:0003143 embryonic heart tube morphogenesis
GO:0003181 atrioventricular valve morphogenesis
GO:0003183 mitral valve morphogenesis
GO:0003203 endocardial cushion morphogenesis
GO:0003274 endocardial cushion fusion
GO:0003289 atrial septum primum morphogenesis
GO:0006468 protein phosphorylation
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007281 germ cell development
GO:0007368 determination of left/right symmetry
GO:0007369 gastrulation
GO:0007498 mesoderm development
GO:0007507 heart development
GO:0009968 negative regulation of signal transduction
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0016310 phosphorylation
GO:0018107 peptidyl-threonine phosphorylation
GO:0030278 regulation of ossification
GO:0030335 positive regulation of cell migration
GO:0030501 positive regulation of bone mineralization
GO:0030509 BMP signaling pathway
GO:0032924 activin receptor signaling pathway
GO:0032926 negative regulation of activin receptor signaling pathway
GO:0045669 positive regulation of osteoblast differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051145 smooth muscle cell differentiation
GO:0060037 pharyngeal system development
GO:0060389 pathway-restricted SMAD protein phosphorylation
GO:0060412 ventricular septum morphogenesis
GO:0060923 cardiac muscle cell fate commitment
GO:0061312 BMP signaling pathway involved in heart development
GO:0061445 endocardial cushion cell fate commitment
GO:0071773 cellular response to BMP stimulus
GO:1905007 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation
GO:2000017 positive regulation of determination of dorsal identity
GO:2001237 negative regulation of extrinsic apoptotic signaling pathway
GO:0003148 outflow tract septum morphogenesis

Cellular Component:
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0045177 apical part of cell
GO:0048179 activin receptor complex

-  Descriptions from all associated GenBank mRNAs
  BC033867 - Homo sapiens activin A receptor, type I, mRNA (cDNA clone MGC:45017 IMAGE:5209711), complete cds.
BC036748 - Homo sapiens activin A receptor, type I, mRNA (cDNA clone IMAGE:5209736).
Z22534 - H.sapiens ALK-2 mRNA.
E09533 - cDNA encoding human TGF-beta 1 type receptor.
L02911 - Human novel serine kinase receptor mRNA, complete cds.
AK313630 - Homo sapiens cDNA, FLJ94201.
AK297765 - Homo sapiens cDNA FLJ60721 complete cds, highly similar to Activin receptor type-1 precursor (EC
JD516034 - Sequence 497058 from Patent EP1572962.
JD492413 - Sequence 473437 from Patent EP1572962.
JD381707 - Sequence 362731 from Patent EP1572962.
JD237951 - Sequence 218975 from Patent EP1572962.
JD221347 - Sequence 202371 from Patent EP1572962.
JD100783 - Sequence 81807 from Patent EP1572962.
JD316714 - Sequence 297738 from Patent EP1572962.
JD114133 - Sequence 95157 from Patent EP1572962.
JD041755 - Sequence 22779 from Patent EP1572962.
JD234724 - Sequence 215748 from Patent EP1572962.
JD383366 - Sequence 364390 from Patent EP1572962.
KJ896373 - Synthetic construct Homo sapiens clone ccsbBroadEn_05767 ACVR1 gene, encodes complete protein.
KJ905131 - Synthetic construct Homo sapiens clone ccsbBroadEn_14527 ACVR1 gene, encodes complete protein.
KR710840 - Synthetic construct Homo sapiens clone CCSBHm_00017628 ACVR1 (ACVR1) mRNA, encodes complete protein.
KR710841 - Synthetic construct Homo sapiens clone CCSBHm_00017629 ACVR1 (ACVR1) mRNA, encodes complete protein.
KR710842 - Synthetic construct Homo sapiens clone CCSBHm_00017633 ACVR1 (ACVR1) mRNA, encodes complete protein.
KR710843 - Synthetic construct Homo sapiens clone CCSBHm_00017636 ACVR1 (ACVR1) mRNA, encodes complete protein.
AB528044 - Synthetic construct DNA, clone: pF1KE0965, Homo sapiens ACVR1 gene for activin A receptor, type I, without stop codon, in Flexi system.
KU177885 - Homo sapiens activin A receptor type I isoform 1 (ACVR1) mRNA, partial cds.
KU177886 - Homo sapiens activin A receptor type I isoform 2 (ACVR1) mRNA, partial cds, alternatively spliced.
KU177887 - Homo sapiens activin A receptor type I isoform 3 (ACVR1) mRNA, partial cds, alternatively spliced.
CU689782 - Synthetic construct Homo sapiens gateway clone IMAGE:100019725 5' read ACVR1 mRNA.
JD525671 - Sequence 506695 from Patent EP1572962.
JD139202 - Sequence 120226 from Patent EP1572962.
JD059943 - Sequence 40967 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04350 - TGF-beta signaling pathway

BioCarta from NCI Cancer Genome Anatomy Project
h_alkPathway - ALK in cardiac myocytes

-  Other Names for This Gene
  Alternate Gene Symbols: ACVR1_HUMAN, ACVRLK2, ENST00000434821.1, ENST00000434821.2, ENST00000434821.3, ENST00000434821.4, ENST00000434821.5, ENST00000434821.6, NM_001111067, Q04771, uc010fog.1, uc010fog.2, uc010fog.3, uc010fog.4, uc010fog.5
UCSC ID: ENST00000434821.7
RefSeq Accession: NM_001111067
Protein: Q04771 (aka ACVR1_HUMAN or AVR1_HUMAN)
CCDS: CCDS2206.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ACVR1:
fop (Fibrodysplasia Ossificans Progressiva)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.