Gene Symbol | ACVR1 |
Entrez ID | 90 |
Uniprot ID | Q04771 |
Description | activin A receptor type I |
Chromosomal Location | chr2: 157,736,444-157,875,862 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000082 |
G1/S transition of mitotic cell cycle |
The mitotic cell cycle transition by which a cell in G1 commits to S phase. The process begins with the build up of G1 cyclin-dependent kinase (G1 CDK), resulting in the activation of transcription of G1 cyclins. The process ends with the positive feedback of the G1 cyclins on the G1 CDK which commits the cell to S phase, in which DNA replication is initiated. |
IMP |
BP |
GO:0001569 |
patterning of blood vessels |
The process that regulates the coordinated growth and sprouting of blood vessels giving rise to the organized vascular system. |
IEA |
BP |
GO:0001701 |
in utero embryonic development |
The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
IEA |
BP |
GO:0001702 |
gastrulation with mouth forming second |
A gastrulation process in which the initial invagination becomes the anus and the mouth forms second. |
IEA |
BP |
GO:0001707 |
mesoderm formation |
The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. |
IEA |
BP |
GO:0001755 |
neural crest cell migration |
The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. |
IEA |
BP |
GO:0002526 |
acute inflammatory response |
Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. |
IEA |
BP |
GO:0003143 |
embryonic heart tube morphogenesis |
The process in which the anatomical structures of the embryonic heart tube are generated and organized. The embryonic heart tube is an epithelial tube that will give rise to the mature heart. |
IMP |
BP |
GO:0003181 |
atrioventricular valve morphogenesis |
The process in which the structure of the atrioventricular valve is generated and organized. |
ISS |
BP |
GO:0003183 |
mitral valve morphogenesis |
The process in which the structure of the mitral valve is generated and organized. |
IMP |
BP |
GO:0003203 |
endocardial cushion morphogenesis |
The process in which the anatomical structure of the endocardial cushion is generated and organized. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves. |
ISS |
BP |
GO:0003274 |
endocardial cushion fusion |
The cell-cell adhesion process of mesenchymal cardiac cushion cells that contributes to the process of cushion shaping. |
ISS |
BP |
GO:0003289 |
atrial septum primum morphogenesis |
The process in which anatomical structure of an atrial septum primum is generated and organized. |
IMP|ISS |
BP |
GO:0006468 |
protein phosphorylation |
The process of introducing a phosphate group on to a protein. |
IDA |
BP |
GO:0007179 |
transforming growth factor beta receptor signaling pathway |
A series of molecular signals initiated by the binding of an extracellular ligand to a transforming growth factor beta receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. |
IDA |
BP |
GO:0007281 |
germ cell development |
The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism. |
IEA |
BP |
GO:0007368 |
determination of left/right symmetry |
The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry. |
IEA |
BP |
GO:0009968 |
negative regulation of signal transduction |
Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. |
IMP |
BP |
GO:0010862 |
positive regulation of pathway-restricted SMAD protein phosphorylation |
Any process that increases the rate, frequency or extent of pathway-restricted SMAD protein phosphorylation. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways. |
IDA|ISS |
BP |
GO:0018107 |
peptidyl-threonine phosphorylation |
The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
IDA |
BP |
GO:0023014 |
signal transduction by protein phosphorylation |
A process in which the transfer of one or more phosphate groups to a substrate transmits a signal to the phosphorylated substrate. |
IEA |
BP |
GO:0030278 |
regulation of ossification |
Any process that modulates the frequency, rate or extent of bone formation. |
IMP |
BP |
GO:0030335 |
positive regulation of cell migration |
Any process that activates or increases the frequency, rate or extent of cell migration. |
IGI |
BP |
GO:0030501 |
positive regulation of bone mineralization |
Any process that activates or increases the frequency, rate or extent of bone mineralization. |
IMP |
BP |
GO:0030509 |
BMP signaling pathway |
A series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. |
IDA |
BP |
GO:0032924 |
activin receptor signaling pathway |
A series of molecular signals initiated by the binding of an extracellular ligand to an activin receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. |
IDA|IMP |
BP |
GO:0032926 |
negative regulation of activin receptor signaling pathway |
Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of any activin receptor signaling pathway. |
IMP |
BP |
GO:0045669 |
positive regulation of osteoblast differentiation |
Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. |
IMP |
BP |
GO:0045893 |
positive regulation of transcription, DNA-templated |
Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
IDA |
BP |
GO:0045944 |
positive regulation of transcription from RNA polymerase II promoter |
Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
IDA|IMP|ISS |
BP |
GO:0051145 |
smooth muscle cell differentiation |
The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell; smooth muscle lacks transverse striations in its constituent fibers and are almost always involuntary. |
IEA |
BP |
GO:0060037 |
pharyngeal system development |
The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming: the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear. |
IEA |
BP |
GO:0060389 |
pathway-restricted SMAD protein phosphorylation |
The process of introducing a phosphate group on to a pathway restricted SMAD protein. A pathway restricted SMAD protein is an effector protein that acts directly downstream of the transforming growth factor family receptor. |
IDA |
BP |
GO:0060412 |
ventricular septum morphogenesis |
The developmental process in which a ventricular septum is generated and organized. A ventricular septum is an anatomical structure that separates the lower chambers (ventricles) of the heart from one another. |
ISS |
BP |
GO:0060923 |
cardiac muscle cell fate commitment |
The commitment of cells to specific cardiac muscle cell fates and their capacity to differentiate into cardiac muscle cells. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. |
IMP |
BP |
GO:0061312 |
BMP signaling pathway involved in heart development |
A series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, which contributes to the progression of the heart over time. |
ISS |
BP |
GO:0061445 |
endocardial cushion cell fate commitment |
The commitment of a cell to an endocardial cushion cell fate and its capacity to differentiate into an endocardial cushion cell. |
IMP |
BP |
GO:0071773 |
cellular response to BMP stimulus |
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bone morphogenetic protein (BMP) stimulus. |
IMP |
BP |
GO:1905007 |
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation |
Any process that activates or increases the frequency, rate or extent of epithelial to mesenchymal transition involved in endocardial cushion formation. |
ISS |
BP |
GO:2000017 |
positive regulation of determination of dorsal identity |
Any process that activates or increases the frequency, rate or extent of determination of dorsal identity. |
IDA |
BP |
GO:2001237 |
negative regulation of extrinsic apoptotic signaling pathway |
Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway. |
IMP |
CC |
GO:0005887 |
integral component of plasma membrane |
The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
IDA |
CC |
GO:0045177 |
apical part of cell |
The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. |
IEA |
CC |
GO:0048179 |
activin receptor complex |
A protein complex that acts as an activin receptor. Heterodimeric activin receptors, comprising one Type I activin receptor and one Type II receptor polypeptide, and heterotrimeric receptors have been observed. |
IDA |
MF |
GO:0004672 |
protein kinase activity |
Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
IDA |
MF |
GO:0004674 |
protein serine/threonine kinase activity |
Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
IDA |
MF |
GO:0004675 |
transmembrane receptor protein serine/threonine kinase activity |
Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
NAS |
MF |
GO:0004702 |
receptor signaling protein serine/threonine kinase activity |
Conveys a signal from an upstream receptor or intracellular signal transducer by catalysis of the reaction: ATP protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
IEA |
MF |
GO:0005025 |
transforming growth factor beta receptor activity, type I |
Combining with a complex of transforming growth factor beta and a type II TGF-beta receptor to initiate a change in cell activity; upon binding, acts as a downstream transducer of TGF-beta signals. |
IEA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0005524 |
ATP binding |
Interacting selectively and non-covalently with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
IDA |
MF |
GO:0016361 |
activin receptor activity, type I |
Combining with activin-bound type II activin receptor to initiate a change in cell activity; upon binding, acts as a downstream transducer of activin signals. |
IDA |
MF |
GO:0017046 |
peptide hormone binding |
Interacting selectively and non-covalently with any peptide with hormonal activity in animals. |
NAS |
MF |
GO:0042803 |
protein homodimerization activity |
Interacting selectively and non-covalently with an identical protein to form a homodimer. |
IDA |
MF |
GO:0046332 |
SMAD binding |
Interacting selectively and non-covalently with a SMAD signaling protein. |
IDA |
MF |
GO:0046872 |
metal ion binding |
Interacting selectively and non-covalently with any metal ion. |
IEA |
MF |
GO:0048185 |
activin binding |
Interacting selectively and non-covalently with activin, a dimer of inhibin-beta subunits. |
IDA |
MF |
GO:0050431 |
transforming growth factor beta binding |
Interacting selectively and non-covalently with TGF-beta, transforming growth factor beta, a multifunctional peptide that controls proliferation, differentiation and other functions in many cell types. |
IDA |
Domain ID | Description |
---|---|
IPR000333 |
Ser/Thr protein kinase, TGFB receptor |
IPR000472 |
Activin types I and II receptor domain |
IPR000719 |
Protein kinase domain |
IPR003605 |
GS domain |
IPR008271 |
Serine/threonine-protein kinase, active site |
IPR011009 |
Protein kinase-like domain |
IPR017441 |
Protein kinase, ATP binding site |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa04060 |
Cytokine-cytokine receptor interaction |
KEGG |
hsa04350 |
TGF-beta signaling pathway |
KEGG |
hsa04550 |
Signaling pathways regulating pluripotency of stem cells |
KEGG |
hsa05418 |
Fluid shear stress and atherosclerosis |
KEGG |
WP3931 |
ESC Pluripotency Pathways |
WikiPathways |
WP2857 |
Mesodermal Commitment Pathway |
WikiPathways |
h_alkPathway |
ALK in cardiac myocytes |
BioCarta |
UMLS CUI | UMLS Term |
---|---|
C0004114 |
Astrocytoma |
C0016037 |
Fibrodysplasia Ossificans Progressiva |
C0017638 |
Glioma |
C0017661 |
Iga Glomerulonephritis |
C0027122 |
Myositis Ossificans |
C0242488 |
Acute Lung Injury |
C1458155 |
Mammary Neoplasms |
Tissue | Cell Type |
---|---|
smooth muscle |
smooth muscle cells |
thyroid gland |
glandular cells |
Database Name |
---|
DisGeNET |
DGA |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
ACVR2B |
93 |
Q13705 |
0.00 |
BMP4 |
652 |
P12644 |
0.00 |
SMAD4 |
4089 |
Q13485 |
0.00 |
ACVR1C |
130399 |
Q8NER5 |
0.00 |
AP2B1 |
163 |
P63010 |
0.52 |
CREBBP |
1387 |
Q92793 |
0.52 |
FKBP4 |
2288 |
Q02790 |
0.52 |
IKBKB |
3551 |
O14920 |
0.52 |
NRAS |
4893 |
P01111 |
0.52 |
PAK1 |
5058 |
Q13153 |
0.52 |
PLEK |
5341 |
P08567 |
0.52 |
RAP2A |
5911 |
P10114 |
0.52 |
RPS27A |
6233 |
P62979 |
0.52 |
UBA52 |
7311 |
P62987 |
0.52 |
SOCS6 |
9306 |
O14544 |
0.52 |
STX8 |
9482 |
Q9UNK0 |
0.52 |
UBE2E3 |
10477 |
Q969T4 |
0.52 |
USP39 |
10713 |
Q53GS9 |
0.52 |
RRAS2 |
22800 |
P62070 |
0.52 |
FCHO1 |
23149 |
O14526 |
0.52 |
RASD2 |
23551 |
Q96D21 |
0.52 |
NKIRAS1 |
28512 |
Q9NYS0 |
0.52 |
DUSP13 |
51207 |
Q9UII6 |
0.52 |
RASL12 |
51285 |
Q9NYN1 |
0.52 |
RAB6B |
51560 |
Q9NRW1 |
0.52 |
PLEKHJ1 |
55111 |
Q9NW61 |
0.52 |
OTUB1 |
55611 |
Q96FW1 |
0.52 |
TTC27 |
55622 |
Q6P3X3 |
0.52 |
TTC17 |
55761 |
Q96AE7 |
0.52 |
FGD6 |
55785 |
Q6ZV73 |
0.52 |
RAB25 |
57111 |
P57735 |
0.52 |
RHOJ |
57381 |
Q9H4E5 |
0.52 |
VEPH1 |
79674 |
Q14D04 |
0.52 |
WDR61 |
80349 |
Q9GZS3 |
0.52 |
NUAK2 |
81788 |
Q9H093 |
0.52 |
RAB33B |
83452 |
Q9H082 |
0.52 |
KLHL35 |
283212 |
Q6PF15 |
0.52 |
BAMBI |
25805 |
Q13145 |
0.56 |
CHN1 |
1123 |
P15882 |
0.59 |
RAB3B |
5865 |
P20337 |
0.59 |
RHOD |
29984 |
O00212 |
0.59 |
UBXN1 |
51035 |
Q04323 |
0.59 |
FANCL |
55120 |
Q9NW38 |
0.59 |
PLEKHB1 |
58473 |
Q9UF11 |
0.59 |
RAB17 |
64284 |
Q9H0T7 |
0.59 |
FBXO30 |
84085 |
Q8TB52 |
0.59 |
RHEBL1 |
121268 |
Q8TAI7 |
0.59 |
NEK8 |
284086 |
Q86SG6 |
0.59 |
ACVRL1 |
94 |
P37023 |
0.63 |
THRB |
7068 |
P10828 |
0.63 |
TSC22D1 |
8848 |
Q15714 |
0.63 |
TGFBRAP1 |
9392 |
Q8WUH2 |
0.63 |
MED16 |
10025 |
Q9Y2X0 |
0.63 |
SMURF1 |
57154 |
Q9HCE7 |
0.63 |
GRAMD1A |
57655 |
Q96CP6 |
0.63 |
ARV1 |
64801 |
Q9H2C2 |
0.63 |
RNF149 |
284996 |
Q8NC42 |
0.63 |
ACVR1 |
90 |
Q04771 |
0.65 |
RXRA |
6256 |
P19793 |
0.65 |
VDR |
7421 |
P11473 |
0.65 |
TGFBR1 |
7046 |
P36897 |
0.75 |
BMPR1A |
657 |
P36894 |
0.83 |
SMAD1 |
4086 |
Q15797 |
0.85 |
ACVR2A |
92 |
P27037 |
0.88 |
BMP2 |
650 |
P12643 |
0.52 |
INHBB |
3625 |
P09529 |
0.52 |
INHBC |
3626 |
P55103 |
0.52 |
SMAD9 |
4093 |
O15198 |
0.62 |
SMAD7 |
4092 |
O15105 |
0.63 |
TGFBR2 |
7048 |
P37173 |
0.63 |
USP15 |
9958 |
Q9Y4E8 |
0.63 |
PEG10 |
23089 |
Q86TG7 |
0.63 |
IGSF1 |
3547 |
Q8N6C5 |
0.65 |
FNTA |
2339 |
P49354 |
0.73 |
SMAD6 |
4091 |
O43541 |
0.73 |
GDF5 |
8200 |
P43026 |
0.73 |
INHBA |
3624 |
P08476 |
0.76 |
ACVR1B |
91 |
P36896 |
0.83 |
ENG |
2022 |
P17813 |
0.83 |
SMAD5 |
4090 |
Q99717 |
0.84 |
BMP7 |
655 |
P18075 |
0.85 |
BMPR2 |
659 |
Q13873 |
0.86 |