ACVR1 [The Human Chemical-Genetic Interaction Map Project]

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======= ACVR1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ACVR1
  * **<color #00a2e8>Official Name</color>**: activin A receptor type 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=90|90]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q04771|Q04771]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ACVR1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ACVR1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/102576|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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). {ECO:0000250}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Pkinase|
|Activin recp|
|Pkinase Tyr|
|TGF beta GS|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|endocardial cushion cell fate commitment|
|endocardial cell fate commitment|
|positive regulation of determination of dorsal identity|
|endocardial cushion cell differentiation|
|regulation of determination of dorsal identity|
|endocardial cushion fusion|
|activin receptor activity, type I|
|atrial septum primum morphogenesis|
|cell adhesion involved in heart morphogenesis|
|positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation|
|BMP signaling pathway involved in heart development|
|septum primum development|
|cardiac muscle cell fate commitment|
|activin receptor complex|
|endothelial cell fate commitment|
|transforming growth factor beta receptor activity, type I|
|BMP receptor activity|
|endocardial cell differentiation|
|positive regulation of cardiac epithelial to mesenchymal transition|
|regulation of epithelial to mesenchymal transition involved in endocardial cushion formation|
|transmembrane receptor protein serine/threonine kinase activity|
|cardiac endothelial cell differentiation|
|mitral valve morphogenesis|
|negative regulation of activin receptor signaling pathway|
|cardiac cell fate commitment|
|regulation of cardiac epithelial to mesenchymal transition|
|mitral valve development|
|pathway-restricted SMAD protein phosphorylation|
|endocardium development|
|activin binding|
|epithelial cell fate commitment|
|regulation of transcription from RNA polymerase II promoter involved in heart development|
|transforming growth factor beta-activated receptor activity|
|muscle cell fate commitment|
|atrial septum morphogenesis|
|atrial septum development|
|transforming growth factor beta binding|
|atrioventricular valve morphogenesis|
|cell surface receptor signaling pathway involved in heart development|
|activin receptor signaling pathway|
|regulation of activin receptor signaling pathway|
|protein tyrosine kinase binding|
|atrioventricular valve development|
|pharyngeal system development|
|outflow tract septum morphogenesis|
|gastrulation with mouth forming second|
|branching involved in blood vessel morphogenesis|
|cardiac atrium morphogenesis|
|growth factor binding|
|smooth muscle cell differentiation|
|endocardial cushion morphogenesis|
|cardiac atrium development|
|positive regulation of bone mineralization|
|peptide hormone binding|
|regulation of heart morphogenesis|
|ventricular septum morphogenesis|
|endocardial cushion development|
|positive regulation of epithelial to mesenchymal transition|
|positive regulation of biomineral tissue development|
|positive regulation of biomineralization|
|positive regulation of pathway-restricted SMAD protein phosphorylation|
|mesenchyme morphogenesis|
|SMAD binding|
|heart valve morphogenesis|
|neural crest cell migration|
|positive regulation of osteoblast differentiation|
|heart valve development|
|regulation of pathway-restricted SMAD protein phosphorylation|
|embryonic heart tube morphogenesis|
|mesoderm formation|
|mesoderm morphogenesis|
|acute inflammatory response|
|apical part of cell|
|ventricular septum development|
|cardiac septum morphogenesis|
|outflow tract morphogenesis|
|regulation of bone mineralization|
|embryonic heart tube development|
|neural crest cell development|
|positive regulation of animal organ morphogenesis|
|peptidyl-threonine phosphorylation|
|endothelial cell differentiation|
|mesenchymal cell development|
|stem cell development|
|regulation of epithelial to mesenchymal transition|
|positive regulation of ossification|
|cardiac muscle cell differentiation|
|neural crest cell differentiation|
|BMP signaling pathway|
|peptidyl-threonine modification|
|regulation of biomineral tissue development|
|regulation of biomineralization|
|endothelium development|
|negative regulation of extrinsic apoptotic signaling pathway|
|transforming growth factor beta receptor signaling pathway|
|positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|cellular response to BMP stimulus|
|response to BMP|
|cardiac septum development|
|formation of primary germ layer|
|regulation of osteoblast differentiation|
|cardiocyte differentiation|
|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|determination of left/right symmetry|
|G1/S transition of mitotic cell cycle|
|cell cycle G1/S phase transition|
|determination of bilateral symmetry|
|mesoderm development|
|specification of symmetry|
|cardiac chamber morphogenesis|
|cardiac ventricle development|
|branching morphogenesis of an epithelial tube|
|regulation of extrinsic apoptotic signaling pathway|
|cellular response to transforming growth factor beta stimulus|
|mesenchymal cell differentiation|
|stem cell differentiation|
|morphogenesis of a branching epithelium|
|gastrulation|
|cardiac muscle tissue development|
|response to transforming growth factor beta|
|morphogenesis of a branching structure|
|cardiac chamber development|
|ameboidal-type cell migration|
|regulation of ossification|
|positive regulation of peptidyl-tyrosine phosphorylation|
|transmembrane receptor protein serine/threonine kinase signaling pathway|
|striated muscle cell differentiation|
|receptor complex|
|mesenchyme development|
|negative regulation of apoptotic signaling pathway|
|regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|protein kinase activity|
|muscle cell differentiation|
|cell fate commitment|
|heart morphogenesis|
|regulation of peptidyl-tyrosine phosphorylation|
|germ cell development|
|regulation of animal organ morphogenesis|
|cell-cell adhesion via plasma-membrane adhesion molecules|
|mitotic cell cycle phase transition|
|cell cycle phase transition|
|striated muscle tissue development|
|embryonic organ morphogenesis|
|muscle tissue development|
|epithelial tube morphogenesis|
|cadherin binding|
|angiogenesis|
|cellular process involved in reproduction in multicellular organism|
|protein serine/threonine kinase activity|
|in utero embryonic development|
|regulation of apoptotic signaling pathway|
|blood vessel morphogenesis|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|muscle structure development|
|blood vessel development|
|inflammatory response|
|positive regulation of cell migration|
|cellular response to growth factor stimulus|
|cell-cell adhesion|
|vasculature development|
|cardiovascular system development|
|positive regulation of cell motility|
|heart development|
|response to growth factor|
|positive regulation of cellular component movement|
|positive regulation of locomotion|
|tissue morphogenesis|
|embryonic morphogenesis|
|mitotic cell cycle process|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|developmental process involved in reproduction|
|epithelial cell differentiation|
|mitotic cell cycle|
|gamete generation|
|enzyme linked receptor protein signaling pathway|
|multicellular organismal reproductive process|
|sexual reproduction|
|multicellular organism reproduction|
|tube development|
|regulation of cell migration|
|circulatory system development|
|protein homodimerization activity|
|peptidyl-amino acid modification|
|negative regulation of apoptotic process|
|anatomical structure formation involved in morphogenesis|
|negative regulation of programmed cell death|
|regulation of cell motility|
|cell adhesion|
|biological adhesion|
|animal organ morphogenesis|
|cell migration|
|positive regulation of cell differentiation|
|protein phosphorylation|
|embryo development|
|regulation of locomotion|
|regulation of cellular component movement|
|multi-organism reproductive process|
|negative regulation of cell death|
|cell cycle process|
|positive regulation of protein phosphorylation|
|positive regulation of phosphorylation|
|regulation of anatomical structure morphogenesis|
|cell motility|
|localization of cell|
|epithelium development|
|positive regulation of phosphate metabolic process|
|positive regulation of phosphorus metabolic process|
|positive regulation of transcription by RNA polymerase II|
|cellular response to endogenous stimulus|
|positive regulation of protein modification process|
|negative regulation of signal transduction|
|phosphorylation|
|locomotion|
|cell cycle|
|defense response|
|negative regulation of cell communication|
|negative regulation of signaling|
|positive regulation of developmental process|
|integral component of plasma membrane|
|reproductive process|
|reproduction|
|regulation of protein phosphorylation|
|response to endogenous stimulus|
|ATP binding|
|regulation of apoptotic process|
|positive regulation of transcription, DNA-templated|
|movement of cell or subcellular component|
|regulation of programmed cell death|
|regulation of phosphorylation|
|positive regulation of cellular protein metabolic process|
|negative regulation of response to stimulus|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|cell development|
|positive regulation of signal transduction|
|regulation of cell death|
|positive regulation of protein metabolic process|
|positive regulation of RNA metabolic process|
|positive regulation of multicellular organismal process|
|tissue development|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of protein modification process|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 13654
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.02 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ACVR1 Expression in NALM6 Cells: 3.02'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>