Homo sapiens Gene: ACVR1
Summary
InnateDB Gene IDBG-72930.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACVR1
Gene Name activin A receptor, type I
Synonyms ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1; TSRI;
Species Homo sapiens
Ensembl Gene ENSG00000115170
Encoded Proteins
activin A receptor, type I
activin A receptor, type I
activin A receptor, type I
activin A receptor, type I
activin A receptor, type I
activin A receptor, type I
activin A receptor, type I
activin A receptor, type I
activin A receptor, type I
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:157736444-157875862
Strand Reverse strand
Band q24.1
Transcripts
ENST00000263640 ENSP00000263640
ENST00000409283 ENSP00000387273
ENST00000410057 ENSP00000387127
ENST00000434821 ENSP00000405004
ENST00000412025 ENSP00000403006
ENST00000440523 ENSP00000401189
ENST00000424669 ENSP00000400767
ENST00000413751 ENSP00000399322
ENST00000487456
ENST00000539637 ENSP00000440091
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 119 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 119 [view]
Protein-Protein 117 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004675 transmembrane receptor protein serine/threonine kinase activity
GO:0004702 receptor signaling protein serine/threonine kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005024 transforming growth factor beta-activated receptor activity
GO:0005025 transforming growth factor beta receptor activity, type I
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016361 activin receptor activity, type I
GO:0016772 transferase activity, transferring phosphorus-containing groups
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 patterning of blood vessels
GO:0001655 urogenital system development
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:0003183 mitral valve morphogenesis
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:0018107 peptidyl-threonine phosphorylation
GO:0023014 signal transduction by phosphorylation
GO:0030278 regulation of ossification
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:0048641 regulation of skeletal muscle tissue development
GO:0051145 smooth muscle cell differentiation
GO:0060037 pharyngeal system development
GO:0060389 pathway-restricted SMAD protein phosphorylation
GO:0060923 cardiac muscle cell fate commitment
GO:0061445 endocardial cushion cell fate commitment
GO:0071385 cellular response to glucocorticoid stimulus
GO:2000017 positive regulation of determination of dorsal identity
GO:2001237 negative regulation of extrinsic apoptotic signaling pathway
Cellular Component
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0045177 apical part of cell
GO:0048179 activin receptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Cytokine-cytokine receptor interaction pathway
TGF-beta signaling pathway pathway
INOH
TGF-beta signaling pathway
BMP2 signaling pathway
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
PID BIOCARTA
PID NCI
ALK2 signaling events
ALK1 pathway
ALK1 signaling events
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.470316
RefSeq NM_001105 NM_001111067 XM_005246939 XM_005246940 XM_006712825
HUGO
OMIM
CCDS CCDS2206
HPRD 00021
IMGT
EMBL
GenPept
RNA Seq Atlas