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
ID:ACVR1_HUMAN DESCRIPTION: RecName: Full=Activin receptor type-1; EC=2.7.11.30; 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="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACVR1";
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.
Pfam Domains: PF01064 - Activin types I and II receptor domain PF00069 - Protein kinase domain PF08515 - Transforming growth factor beta type I GS-motif
ModBase Predicted Comparative 3D Structure on Q04771
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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.
US Server
