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MGI:Acvr1

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Contents

Species (Taxon ID) Mus musculus (house mouse) (taxon:10090)
Gene Name(s) Acvr1 ( synonyms: ActR-I, ActRIA, Acvr, Acvrlk2, Alk-2, ALK2, Alk8, SKR1, Tsk7L )
Protein Name(s) activin A receptor, type 1,
External Links
MGI MGI:87911

Annotations

Qualifier GO ID GO term name Reference Evidence Code with/from Aspect Notes Status
GO:0000082

G1/S transition of mitotic cell cycle

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0000166

nucleotide binding

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0547

F

From MGI

GO:0001569

patterning of blood vessels

MGI:MGI:3703113
PMID:17078885[1]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2651395
MGI:MGI:2386570

P

From MGI

GO:0001655

urogenital system development

MGI:MGI:2154458

ISO: Inferred from Sequence Orthology

UniProtKB:P80201

P

From MGI

GO:0001701

in utero embryonic development

MGI:MGI:2686855
PMID:14729481[2]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0001701

in utero embryonic development

MGI:MGI:3043889
PMID:15037318[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2651395
MGI:MGI:2447280

P

From MGI

GO:0001701

in utero embryonic development

MGI:MGI:3695845
PMID:17117439[4]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3696672
MGI:MGI:1931734

P

From MGI

GO:0001702

gastrulation with mouth forming second

MGI:MGI:3695845
PMID:17117439[4]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3696672
MGI:MGI:1931734

P

From MGI

GO:0001707

mesoderm formation

MGI:MGI:1345529
PMID:10479450[5]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1931734

P

From MGI

GO:0001707

mesoderm formation

MGI:MGI:3695845
PMID:17117439[4]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3696672
MGI:MGI:1931734

P

From MGI

GO:0001755

neural crest cell migration

MGI:MGI:3045641
PMID:15226263[6]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2651395

P

From MGI

GO:0003143

embryonic heart tube morphogenesis

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0003183

mitral valve morphogenesis

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0003197

endocardial cushion development

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0003289

atrial septum primum morphogenesis

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0004672

protein kinase activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

F

From MGI

GO:0004674

protein serine/threonine kinase activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

F

From MGI

GO:0004675

transmembrane receptor protein serine/threonine kinase activity

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR000472
InterPro:IPR003605

F

From MGI

GO:0004702

receptor signaling protein serine/threonine kinase activity

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P80201

F

From MGI

GO:0004872

receptor activity

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0675

F

From MGI

GO:0005024

transforming growth factor beta-activated receptor activity

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR000472

F

From MGI

GO:0005025

transforming growth factor beta receptor activity, type I

MGI:MGI:73273
PMID:8388127[7]

IDA: Inferred from Direct Assay

F

From MGI

GO:0005524

ATP binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

F

From MGI

GO:0005887

integral to plasma membrane

MGI:MGI:1935017
PMID:11376112[8]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005887

integral to plasma membrane

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

C

From MGI

GO:0006468

protein phosphorylation

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P80201

P

From MGI

GO:0006468

protein phosphorylation

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0007178

transmembrane receptor protein serine/threonine kinase signaling pathway

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR000333

P

From MGI

GO:0007179

transforming growth factor beta receptor signaling pathway

MGI:MGI:1935017
PMID:11376112[8]

IDA: Inferred from Direct Assay

P

From MGI

GO:0007179

transforming growth factor beta receptor signaling pathway

MGI:MGI:2181509
PMID:12054694[9]

TAS: Traceable Author Statement

P

From MGI

GO:0007179

transforming growth factor beta receptor signaling pathway

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P80201

P

From MGI

GO:0007179

transforming growth factor beta receptor signaling pathway

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0007281

germ cell development

MGI:MGI:3050161
PMID:15289457[10]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857711

P

From MGI

GO:0007368

determination of left/right symmetry

MGI:MGI:3522525
PMID:15531373[11]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1931734

P

From MGI

GO:0007369

gastrulation

MGI:MGI:1335818
PMID:10226013[12]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857711

P

From MGI

GO:0007498

mesoderm development

MGI:MGI:3695845
PMID:17117439[4]

IMP: Inferred from Mutant Phenotype

MGI:MGI:3696672
MGI:MGI:1931734

P

From MGI

GO:0007507

heart development

MGI:MGI:3045641
PMID:15226263[6]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2651395

P

From MGI

GO:0007507

heart development

MGI:MGI:3610266
PMID:16140292[13]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2651395
MGI:MGI:2136412

P

From MGI

GO:0007507

heart development

MGI:MGI:3703113
PMID:17078885[1]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2651395
MGI:MGI:2386570

P

From MGI

GO:0009790

embryo development

MGI:MGI:2686855
PMID:14729481[2]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0009790

embryo development

MGI:MGI:3043889
PMID:15037318[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2651395
MGI:MGI:2447280

P

From MGI

GO:0009968

negative regulation of signal transduction

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0016020

membrane

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0472

C

From MGI

GO:0016020

membrane

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR000333
InterPro:IPR000472
InterPro:IPR003605

C

From MGI

GO:0016021

integral to membrane

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0812

C

From MGI

GO:0016301

kinase activity

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0418

F

From MGI

GO:0016310

phosphorylation

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0418

P

From MGI

GO:0016361

activin receptor activity, type I

MGI:MGI:1935017
PMID:11376112[8]

IDA: Inferred from Direct Assay

F

From MGI

GO:0016361

activin receptor activity, type I

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P80201

F

From MGI

GO:0016740

transferase activity

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0808

F

From MGI

GO:0016772

transferase activity, transferring phosphorus-containing groups

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR011009

F

From MGI

GO:0018107

peptidyl-threonine phosphorylation

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0019838

growth factor binding

MGI:MGI:73273
PMID:8388127[7]

IDA: Inferred from Direct Assay

F

From MGI

GO:0023014

signal transduction by phosphorylation

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P80201

P

From MGI

GO:0030278

regulation of ossification

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0030501

positive regulation of bone mineralization

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0030509

BMP signaling pathway

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0032924

activin receptor signaling pathway

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0032926

negative regulation of activin receptor signaling pathway

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0042803

protein homodimerization activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

F

From MGI

GO:0043066

negative regulation of apoptotic process

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0045177

apical part of cell

MGI:MGI:1354816
PMID:10704880[14]

IDA: Inferred from Direct Assay

C

From MGI

GO:0045177

apical part of cell

MGI:MGI:1932593
PMID:11290335[15]

IDA: Inferred from Direct Assay

C

From MGI

GO:0045669

positive regulation of osteoblast differentiation

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0045893

positive regulation of transcription, DNA-dependent

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0045944

positive regulation of transcription from RNA polymerase II promoter

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0046332

SMAD binding

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P80201

F

From MGI

GO:0046332

SMAD binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

F

From MGI

GO:0046872

metal ion binding

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0479

F

From MGI

GO:0048179

activin receptor complex

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P80201

C

From MGI

GO:0048179

activin receptor complex

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

C

From MGI

GO:0048185

activin binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

F

From MGI

GO:0048185

activin binding

MGI:MGI:59666
PMID:1646080[16]

IPI: Inferred from Physical Interaction

UniProtKB:P27038

F

From MGI

GO:0048185

activin binding

MGI:MGI:75241
PMID:7577669[17]

IPI: Inferred from Physical Interaction

UniProtKB:Q04998

F

From MGI

GO:0050431

transforming growth factor beta binding

MGI:MGI:2181509
PMID:12054694[9]

IDA: Inferred from Direct Assay

F

From MGI

GO:0050431

transforming growth factor beta binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

F

From MGI

GO:0051145

smooth muscle cell differentiation

MGI:MGI:3703113
PMID:17078885[1]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2651395
MGI:MGI:2386570

P

From MGI

GO:0060037

pharyngeal system development

MGI:MGI:3703113
PMID:17078885[1]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2651395
MGI:MGI:2386570

P

From MGI

GO:0060389

pathway-restricted SMAD protein phosphorylation

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:0060923

cardiac muscle cell fate commitment

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI

GO:2000017

positive regulation of determination of dorsal identity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q04771

P

From MGI


Notes

References

See Help:References for how to manage references in GONUTS.
  1. 1.0 1.1 1.2 1.3 Wang J et al. (2006) Defective ALK5 signaling in the neural crest leads to increased postmigratory neural crest cell apoptosis and severe outflow tract defects. BMC Dev Biol 6: 51 PubMed GONUTS page
  2. 2.0 2.1 Dudas M et al. (2004) Tgf-beta3-induced palatal fusion is mediated by Alk-5/Smad pathway. Dev Biol 266: 96-108 PubMed GONUTS page
  3. 3.0 3.1 Dudas M et al. (2004) Craniofacial defects in mice lacking BMP type I receptor Alk2 in neural crest cells. Mech Dev 121: 173-82 PubMed GONUTS page
  4. 4.0 4.1 4.2 4.3 Komatsu Y et al. (2007) BMP type I receptor ALK2 is essential for proper patterning at late gastrulation during mouse embryogenesis. Dev Dyn 236: 512-7 PubMed GONUTS page
  5. Mishina Y et al. (1999) Multiple roles for activin-like kinase-2 signaling during mouse embryogenesis. Dev Biol 213: 314-26 PubMed GONUTS page
  6. 6.0 6.1 Kaartinen V et al. (2004) Cardiac outflow tract defects in mice lacking ALK2 in neural crest cells. Development 131: 3481-90 PubMed GONUTS page
  7. 7.0 7.1 Ebner R et al. (1993) Cloning of a type I TGF-beta receptor and its effect on TGF-beta binding to the type II receptor. Science 260: 1344-8 PubMed GONUTS page
  8. 8.0 8.1 8.2 Visser JA et al. (2001) The serine/threonine transmembrane receptor ALK2 mediates Müllerian inhibiting substance signaling. Mol Endocrinol 15: 936-45 PubMed GONUTS page
  9. 9.0 9.1 de Caestecker MP et al. (2002) The novel type I serine-threonine kinase receptor Alk8 binds TGF-beta in the presence of TGF-betaRII. Biochem Biophys Res Commun 293: 1556-65 PubMed GONUTS page
  10. de Sousa Lopes SM et al. (2004) BMP signaling mediated by ALK2 in the visceral endoderm is necessary for the generation of primordial germ cells in the mouse embryo. Genes Dev 18: 1838-49 PubMed GONUTS page
  11. Kishigami S et al. (2004) BMP signaling through ACVRI is required for left-right patterning in the early mouse embryo. Dev Biol 276: 185-93 PubMed GONUTS page
  12. Gu Z et al. (1999) The type I serine/threonine kinase receptor ActRIA (ALK2) is required for gastrulation of the mouse embryo. Development 126: 2551-61 PubMed GONUTS page
  13. Wang J et al. (2005) Atrioventricular cushion transformation is mediated by ALK2 in the developing mouse heart. Dev Biol 286: 299-310 PubMed GONUTS page
  14. Yoshikawa SI et al. (2000) The ActR-I activin receptor protein is expressed in notochord, lens placode and pituitary primordium cells in the mouse embryo. Mech Dev 91: 439-44 PubMed GONUTS page
  15. Izon DJ et al. (2001) Notch1 regulates maturation of CD4+ and CD8+ thymocytes by modulating TCR signal strength. Immunity 14: 253-64 PubMed GONUTS page
  16. Mathews LS & Vale WW (1991) Expression cloning of an activin receptor, a predicted transmembrane serine kinase. Cell 65: 973-82 PubMed GONUTS page
  17. Verschueren K et al. (1995) Expression of type I and type IB receptors for activin in midgestation mouse embryos suggests distinct functions in organogenesis. Mech Dev 52: 109-23 PubMed GONUTS page
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