ACVR1
activin A receptor, type I
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kinase, receptor of bone morphogenetic protein [Pubmed]
This census gene has a hallmark. For more information please look
[here].
|
role in cancer | oncogene |
|---|---|---|
|
differentiation and development | required for chondrogenesis during development [Pubmed] |
|
types of alteration in cancer | recurrent GOF mutations in diffuse intrinsic pontine glioma [Pubmed]; recurrent missense mutations G328V, G328E, R206H in paediatric pontine glioma [Pubmed] |
escaping programmed cell death
overexpression of the constitutively active form of ACVR1 results in a marked increase in apoptotic cells in glioma-initiating cells [Pubmed]
proliferative signalling
GOF mutant promotes cell proliferation in immortalized normal human astrocytes [Pubmed]; overexpression of ALK2 results in the autophosphorylation of Smad1/5, leading to consequent increase in cell growth, the effect is reversed after inhibition of ACVR1 in erythroleukaemia TF-1 cell line [Pubmed]
invasion and metastasis
in the presence of constitutively active ACVR1, cell migration is not inhibited by endoglin in prostate cancer PC3-M cell line [Pubmed]