ACVR1B [The Human Chemical-Genetic Interaction Map Project]

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======= ACVR1B =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ACVR1B
  * **<color #00a2e8>Official Name</color>**: activin A receptor type 1B
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=91|91]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P36896|P36896]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ACVR1B&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ACVR1B|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601300|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes an activin A type IB receptor. 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 and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine- threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C- terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2. {ECO:0000269|PubMed:12364468, ECO:0000269|PubMed:12639945, ECO:0000269|PubMed:18039968, ECO:0000269|PubMed:20226172, ECO:0000269|PubMed:8196624, ECO:0000269|PubMed:9032295, ECO:0000269|PubMed:9892009}.

<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|
|Activin recp|
|Pkinase Tyr|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|activin-activated receptor activity|
|activin receptor activity, type I|
|inhibin binding|
|positive regulation of trophoblast cell migration|
|transforming growth factor beta receptor activity, type I|
|activin receptor complex|
|transmembrane receptor protein serine/threonine kinase activity|
|positive regulation of activin receptor signaling pathway|
|regulation of trophoblast cell migration|
|nodal signaling pathway|
|activin binding|
|transforming growth factor beta-activated receptor activity|
|regulation of activin receptor signaling pathway|
|activin receptor signaling pathway|
|positive regulation of erythrocyte differentiation|
|growth factor binding|
|regulation of erythrocyte differentiation|
|positive regulation of pathway-restricted SMAD protein phosphorylation|
|SMAD binding|
|regulation of pathway-restricted SMAD protein phosphorylation|
|hair follicle development|
|skin epidermis development|
|hair cycle process|
|molting cycle process|
|positive regulation of reproductive process|
|peptidyl-threonine phosphorylation|
|peptidyl-threonine modification|
|positive regulation of myeloid cell differentiation|
|molting cycle|
|hair cycle|
|development of primary female sexual characteristics|
|extrinsic apoptotic signaling pathway|
|transforming growth factor beta receptor signaling pathway|
|positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|female sex differentiation|
|G1/S transition of mitotic cell cycle|
|cell cycle G1/S phase transition|
|cellular response to transforming growth factor beta stimulus|
|regulation of reproductive process|
|response to transforming growth factor beta|
|negative regulation of cell growth|
|positive regulation of hemopoiesis|
|protein autophosphorylation|
|transmembrane receptor protein serine/threonine kinase signaling pathway|
|receptor complex|
|development of primary sexual characteristics|
|regulation of myeloid cell differentiation|
|regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|negative regulation of growth|
|sex differentiation|
|mitotic cell cycle phase transition|
|cell cycle phase transition|
|apoptotic signaling pathway|
|ubiquitin protein ligase binding|
|protein serine/threonine kinase activity|
|in utero embryonic development|
|skin development|
|epidermis development|
|regulation of cell growth|
|pattern specification process|
|regulation of hemopoiesis|
|cellular response to growth factor stimulus|
|positive regulation of cell migration|
|positive regulation of multi-organism process|
|positive regulation of cell motility|
|response to growth factor|
|positive regulation of cellular component movement|
|positive regulation of locomotion|
|mitotic cell cycle process|
|cell surface|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|developmental process involved in reproduction|
|regulation of growth|
|mitotic cell cycle|
|enzyme linked receptor protein signaling pathway|
|regulation of multi-organism process|
|regulation of cell migration|
|peptidyl-amino acid modification|
|regulation of cell motility|
|apoptotic process|
|positive regulation of cell differentiation|
|protein phosphorylation|
|embryo development|
|central nervous system development|
|regulation of locomotion|
|regulation of cellular component movement|
|cell cycle process|
|positive regulation of protein phosphorylation|
|programmed cell death|
|positive regulation of phosphorylation|
|cell death|
|epithelium development|
|positive regulation of phosphorus metabolic process|
|positive regulation of phosphate metabolic process|
|positive regulation of immune system process|
|positive regulation of transcription by RNA polymerase II|
|cellular response to endogenous stimulus|
|positive regulation of protein modification process|
|phosphorylation|
|cell cycle|
|positive regulation of developmental process|
|integral component of plasma membrane|
|reproductive process|
|reproduction|
|regulation of protein phosphorylation|
|response to endogenous stimulus|
|ATP binding|
|positive regulation of transcription, DNA-templated|
|regulation of phosphorylation|
|positive regulation of cellular protein metabolic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|regulation of immune system 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|
|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>**: 12192
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.74 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ACVR1B Expression in NALM6 Cells: 5.74'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>