Protein Description

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

No sources found.

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