ACVRL1 [The Human Chemical-Genetic Interaction Map Project]

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======= ACVRL1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ACVRL1
  * **<color #00a2e8>Official Name</color>**: activin A receptor like type 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=94|94]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P37023|P37023]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ACVRL1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ACVRL1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601284|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. 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. May bind activin as well. {ECO:0000269|PubMed:22718755, ECO:0000269|PubMed:22799562, ECO:0000269|PubMed:26176610}.

<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'>
|TGF beta GS|
|Pkinase Tyr|
|Pkinase|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|activin receptor activity, type I|
|endocardial cushion to mesenchymal transition|
|BMP receptor activity|
|transforming growth factor beta receptor activity, type I|
|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|
|activin receptor complex|
|lymphatic endothelial cell differentiation|
|transmembrane receptor protein serine/threonine kinase activity|
|dorsal aorta morphogenesis|
|blood vessel maturation|
|negative regulation of endothelial cell differentiation|
|dorsal aorta development|
|wound healing, spreading of epidermal cells|
|endothelial tube morphogenesis|
|lymphangiogenesis|
|morphogenesis of an endothelium|
|activin binding|
|lymph vessel morphogenesis|
|venous blood vessel development|
|transforming growth factor beta-activated receptor activity|
|positive regulation of endothelial cell differentiation|
|retina vasculature development in camera-type eye|
|negative regulation of focal adhesion assembly|
|negative regulation of adherens junction organization|
|positive regulation of chondrocyte differentiation|
|lymph vessel development|
|transforming growth factor beta binding|
|endothelial cell proliferation|
|negative regulation of cell junction assembly|
|wound healing, spreading of cells|
|epiboly involved in wound healing|
|activin receptor signaling pathway|
|epiboly|
|cardiac epithelial to mesenchymal transition|
|aorta morphogenesis|
|positive regulation of BMP signaling pathway|
|negative regulation of blood vessel endothelial cell migration|
|growth factor binding|
|blood vessel remodeling|
|positive regulation of cartilage development|
|regulation of endothelial cell differentiation|
|endocardial cushion morphogenesis|
|negative regulation of endothelial cell proliferation|
|negative regulation of cell-matrix adhesion|
|negative regulation of DNA biosynthetic process|
|negative regulation of epithelial cell differentiation|
|endocardial cushion development|
|positive regulation of pathway-restricted SMAD protein phosphorylation|
|negative regulation of endothelial cell migration|
|morphogenesis of an epithelial sheet|
|mesenchyme morphogenesis|
|aorta development|
|regulation of chondrocyte differentiation|
|SMAD binding|
|sprouting angiogenesis|
|positive regulation of epithelial cell differentiation|
|regulation of cell-substrate junction assembly|
|regulation of focal adhesion assembly|
|artery morphogenesis|
|regulation of pathway-restricted SMAD protein phosphorylation|
|negative regulation of cell-substrate adhesion|
|negative regulation of epithelial cell migration|
|regulation of adherens junction organization|
|regulation of cartilage development|
|epithelial to mesenchymal transition|
|endothelial cell differentiation|
|artery development|
|epithelial cell proliferation|
|regulation of BMP signaling pathway|
|regulation of cell junction assembly|
|BMP signaling pathway|
|regulation of blood vessel endothelial cell migration|
|positive regulation of endothelial cell proliferation|
|endothelium development|
|tissue remodeling|
|transforming growth factor beta receptor signaling pathway|
|positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|response to BMP|
|cellular response to BMP stimulus|
|regulation of DNA replication|
|regulation of DNA biosynthetic process|
|regulation of cell-matrix adhesion|
|negative regulation of DNA metabolic process|
|negative regulation of epithelial cell proliferation|
|regulation of endothelial cell proliferation|
|anatomical structure maturation|
|retina development in camera-type eye|
|regulation of epithelial cell differentiation|
|cellular response to transforming growth factor beta stimulus|
|mesenchymal cell differentiation|
|regulation of endothelial cell migration|
|response to transforming growth factor beta|
|positive regulation of angiogenesis|
|regulation of blood pressure|
|negative regulation of cell growth|
|positive regulation of vasculature development|
|positive regulation of epithelial cell proliferation|
|transmembrane receptor protein serine/threonine kinase signaling pathway|
|receptor complex|
|regulation of cell-substrate adhesion|
|regulation of epithelial cell migration|
|mesenchyme development|
|regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|developmental maturation|
|negative regulation of growth|
|heart morphogenesis|
|negative regulation of cell migration|
|regulation of cellular response to growth factor stimulus|
|negative regulation of cell adhesion|
|negative regulation of cell motility|
|regulation of angiogenesis|
|epithelial tube morphogenesis|
|negative regulation of cellular component movement|
|camera-type eye development|
|angiogenesis|
|regulation of vasculature development|
|negative regulation of locomotion|
|regulation of epithelial cell proliferation|
|response to hypoxia|
|regulation of DNA metabolic process|
|response to decreased oxygen levels|
|eye development|
|visual system development|
|protein serine/threonine kinase activity|
|sensory system development|
|neuronal cell body|
|in utero embryonic development|
|response to oxygen levels|
|blood circulation|
|circulatory system process|
|blood vessel morphogenesis|
|regulation of cell growth|
|dendrite|
|morphogenesis of an epithelium|
|pattern specification process|
|protein kinase binding|
|wound healing|
|blood vessel development|
|cellular response to growth factor stimulus|
|vasculature development|
|cardiovascular system development|
|heart development|
|response to growth factor|
|sensory organ development|
|cell population proliferation|
|tissue morphogenesis|
|response to wounding|
|cell surface|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|regulation of growth|
|negative regulation of cell population proliferation|
|regulation of cell adhesion|
|epithelial cell differentiation|
|negative regulation of cellular component organization|
|negative regulation of cell differentiation|
|enzyme linked receptor protein signaling pathway|
|tube development|
|regulation of cell migration|
|circulatory system development|
|anatomical structure formation involved in morphogenesis|
|regulation of cell motility|
|positive regulation of cell population proliferation|
|negative regulation of developmental process|
|animal organ morphogenesis|
|regulation of cellular component biogenesis|
|cell migration|
|positive regulation of cell differentiation|
|protein phosphorylation|
|embryo development|
|regulation of locomotion|
|regulation of cellular component movement|
|positive regulation of protein phosphorylation|
|positive regulation of phosphorylation|
|regulation of anatomical structure morphogenesis|
|localization of cell|
|cell motility|
|epithelium development|
|positive regulation of phosphorus metabolic process|
|positive regulation of phosphate metabolic process|
|response to abiotic stimulus|
|negative regulation of multicellular organismal process|
|positive regulation of transcription by RNA polymerase II|
|cellular response to endogenous stimulus|
|positive regulation of protein modification process|
|phosphorylation|
|locomotion|
|positive regulation of developmental process|
|negative regulation of cellular macromolecule biosynthetic process|
|integral component of plasma membrane|
|negative regulation of nucleobase-containing compound metabolic process|
|regulation of protein phosphorylation|
|negative regulation of macromolecule biosynthetic process|
|response to endogenous stimulus|
|ATP binding|
|negative regulation of cellular biosynthetic process|
|positive regulation of transcription, DNA-templated|
|negative regulation of biosynthetic process|
|movement of cell or subcellular component|
|regulation of phosphorylation|
|positive regulation of cellular protein metabolic process|
|regulation of cell population proliferation|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|positive regulation of signal transduction|
|positive regulation of protein metabolic process|
|negative regulation of gene expression|
|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|
|system process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' 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'>
^Screen^Score^
|[[:results:exp60|Vinblastine 0.002μM R01 exp60]]|-1.82|
|[[:results:exp140|Nicotinate 1000μM R03 exp140]]|1.72|
|[[:results:exp406|Thalidomide 20μM R07 exp406]]|1.76|
</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>**: 9938
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.05 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ACVRL1 Expression in NALM6 Cells: 0.05'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>