ACVR1
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| activin A receptor type 1 | MIM:102576 | Ensembl:ENSG00000115170 | HGNC:HGNC:171 | PA24492 | 2q24.1 |
GO terms in ACVR1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0005887 | integral component of plasma membrane |
| CC | IBA | GO:0043235 | receptor complex |
| CC | IEA | GO:0045177 | apical part of cell |
| CC | IBA | GO:0048179 | activin receptor complex |
| CC | IDA | GO:0048179 | activin receptor complex |
| BP | IMP | GO:0000082 | G1/S transition of mitotic cell cycle |
| BP | IEA | GO:0001569 | branching involved in blood vessel morphogenesis |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0001702 | gastrulation with mouth forming second |
| BP | IEA | GO:0001707 | mesoderm formation |
| BP | IEA | GO:0001755 | neural crest cell migration |
| BP | IEA | GO:0002526 | acute inflammatory response |
| BP | IMP | GO:0003143 | embryonic heart tube morphogenesis |
| BP | ISS | GO:0003148 | outflow tract septum morphogenesis |
| BP | ISS | GO:0003181 | atrioventricular valve morphogenesis |
| BP | IMP | GO:0003183 | mitral valve morphogenesis |
| BP | ISS | GO:0003203 | endocardial cushion morphogenesis |
| BP | ISS | GO:0003274 | endocardial cushion fusion |
| BP | IMP | GO:0003289 | atrial septum primum morphogenesis |
| BP | ISS | GO:0003289 | atrial septum primum morphogenesis |
| BP | IDA | GO:0006468 | protein phosphorylation |
| BP | IBA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IDA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IEA | GO:0007281 | germ cell development |
| BP | IEA | GO:0007368 | determination of left/right symmetry |
| BP | IBA | GO:0007389 | pattern specification process |
| BP | IBA | GO:0007507 | heart development |
| BP | IMP | GO:0009968 | negative regulation of signal transduction |
| BP | IDA | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation |
| BP | ISS | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation |
| BP | IDA | GO:0018107 | peptidyl-threonine phosphorylation |
| BP | IMP | GO:0030278 | regulation of ossification |
| BP | IGI | GO:0030335 | positive regulation of cell migration |
| BP | IMP | GO:0030501 | positive regulation of bone mineralization |
| BP | IDA | GO:0030509 | BMP signaling pathway |
| BP | IDA | GO:0032924 | activin receptor signaling pathway |
| BP | IMP | GO:0032924 | activin receptor signaling pathway |
| BP | IMP | GO:0032926 | negative regulation of activin receptor signaling pathway |
| BP | IMP | GO:0045669 | positive regulation of osteoblast differentiation |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0051145 | smooth muscle cell differentiation |
| BP | IEA | GO:0060037 | pharyngeal system development |
| BP | IDA | GO:0060389 | pathway-restricted SMAD protein phosphorylation |
| BP | ISS | GO:0060412 | ventricular septum morphogenesis |
| BP | IMP | GO:0060923 | cardiac muscle cell fate commitment |
| BP | ISS | GO:0061312 | BMP signaling pathway involved in heart development |
| BP | IMP | GO:0061445 | endocardial cushion cell fate commitment |
| BP | IMP | GO:0071773 | cellular response to BMP stimulus |
| BP | ISS | GO:1905007 | positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation |
| BP | IDA | GO:2000017 | positive regulation of determination of dorsal identity |
| BP | IMP | GO:2001237 | negative regulation of extrinsic apoptotic signaling pathway |
| MF | IDA | GO:0004672 | protein kinase activity |
| MF | IDA | GO:0004674 | protein serine/threonine kinase activity |
| MF | NAS | GO:0004675 | transmembrane receptor protein serine/threonine kinase activity |
| MF | IBA | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IBA | GO:0005025 | transforming growth factor beta receptor activity, type I |
| MF | IEA | GO:0005025 | transforming growth factor beta receptor activity, type I |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0005524 | ATP binding |
| MF | IBA | GO:0016361 | activin receptor activity, type I |
| MF | IDA | GO:0016361 | activin receptor activity, type I |
| MF | NAS | GO:0017046 | peptide hormone binding |
| MF | IBA | GO:0019838 | growth factor binding |
| MF | IDA | GO:0042803 | protein homodimerization activity |
| MF | IBA | GO:0046332 | SMAD binding |
| MF | IDA | GO:0046332 | SMAD binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IBA | GO:0048185 | activin binding |
| MF | IDA | GO:0048185 | activin binding |
| MF | IDA | GO:0050431 | transforming growth factor beta binding |
| MF | IBA | GO:0098821 | BMP receptor activity |
Gene expression in normal tissue: ACVR1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ACVR1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2857 | Mesodermal Commitment Pathway |
| wikipathways | WP3931 | ESC Pluripotency Pathways |
| kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
| kegg | hsa04350 | TGF-beta signaling pathway - Homo sapiens (human) |
| kegg | hsa04550 | Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) |
| kegg | hsa05418 | Fluid shear stress and atherosclerosis - Homo sapiens (human) |
| pid | alk1pathway | ALK1 signaling events |
| pid | alk2pathway | ALK2 signaling events |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD307 | Manumycin A | 2 |
| iGMDRD330 | BRD4132 | 2 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD512 | nutlin 3 | 1 |
| iGMDRD424 | Tamatinib | 2 |
| iGMDRD427 | ABT737 | 1 |
| iGMDRD85 | Ursolic acid | 1 |
| iGMDRD341 | Triacsin c | 6 |
| iGMDRD237 | ABT-751 | 2 |
| iGMDRD466 | Chaetocin | 2 |
| iGMDRD177 | Teniposide | 1 |
| iGMDRD297 | Austocystin D | 3 |
| iGMDRD511 | CHEMBL399379 | 3 |
| iGMDRD158 | NSC141540 | 2 |
| iGMDRD137 | Indisulam | 3 |
| iGMDRD289 | Parthenolide | 2 |
| iGMDRD887 | Compound 23 citrate | 1 |
| iGMDRD398 | Sepantronium | 3 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD147 | Prima-1 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ACVR1
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.