Acvr1 - activin A receptor, type 1 Gene

Also Known as ALK2; Acvr; Alk8; SKR1; Alk-2; Tsk7L; ActR-I; ActRIA; Acvr1a; Acvrlk2; D330013D15Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 11477

About Acvr1

Chromosome 2: 58,278,656-58,457,169 reverse strand.GRCm39:CM000995.3

This gene has 6 transcripts (splice variants), 174 orthologues, 11 paralogues and is associated with 43 phenotypes. Ubiquitous expression in bladder adult (RPKM 6.5), limb E14.5 (RPKM 6.5) and 28 other tissues.

Summary

Enables activin binding activity; transforming growth factor beta binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in heart development; positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation; and positive regulation of nitrogen compound metabolic process. Acts upstream of or within several processes, including chordate embryonic development; circulatory system development; and gastrulation. Located in apical part of cell. Is integral component of plasma membrane. Is expressed in several structures, including alimentary system; brain; limb; male reproductive gland or organ; and sensory organ. Used to study fibrodysplasia ossificans progressiva. Human ortholog(s) of this gene implicated in fibrodysplasia ossificans progressiva. Orthologous to human ACVR1 (Activin A receptor type 1). [provided by Alliance of Genome Resources, Apr 2022]

Acvr1 Products (5)

mRNA Protein Name
NM_001355049.1 NP_001341978.1 activin receptor type-1 precursor
NM_007394.3 NP_031420.2 activin receptor type-1 precursor
NM_001355048.1 NP_001341977.1 activin receptor type-1 precursor
NM_001110204.1 NP_001103674.1 activin receptor type-1 precursor
NM_001110205.1 NP_001103675.1 activin receptor type-1 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables activin binding IPI
IPI: Inferred from physical interaction
1646080 MGI
enables activin receptor activity, type I IDA
IDA: Inferred from direct assay
11376112 MGI
enables growth factor binding IDA
IDA: Inferred from direct assay
8388127 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
15239668 MGI
enables transforming growth factor beta binding IDA
IDA: Inferred from direct assay
12054694 MGI
enables transforming growth factor beta receptor activity, type I IDA
IDA: Inferred from direct assay
8388127 MGI
Biological Process GO Annotation Evidence Verweise Source
involved in BMP signaling pathway IMP
IMP: Inferred from mutant phenotype
16140292 MGI
involved in acute inflammatory response IEP
IEP: Inferred from expression pattern
12151307 MGI
involved in atrial septum primum morphogenesis IMP
IMP: Inferred from mutant phenotype
16140292 MGI
involved in atrioventricular valve morphogenesis IMP
IMP: Inferred from mutant phenotype
16140292 MGI
acts upstream of or within branching involved in blood vessel morphogenesis IMP
IMP: Inferred from mutant phenotype
17078885 MGI
acts upstream of or within determination of left/right symmetry IMP
IMP: Inferred from mutant phenotype
15531373 MGI
acts upstream of or within embryo development IMP
IMP: Inferred from mutant phenotype
14729481 MGI
involved in endocardial cushion formation IMP
IMP: Inferred from mutant phenotype
16140292 MGI
involved in endocardial cushion fusion IMP
IMP: Inferred from mutant phenotype
16140292 MGI
acts upstream of or within gastrulation IMP
IMP: Inferred from mutant phenotype
10226013 MGI
acts upstream of or within gastrulation with mouth forming second IMP
IMP: Inferred from mutant phenotype
17117439 MGI
acts upstream of or within germ cell development IMP
IMP: Inferred from mutant phenotype
15289457 MGI
acts upstream of or within heart development IMP
IMP: Inferred from mutant phenotype
15226263 MGI
acts upstream of or within in utero embryonic development IMP
IMP: Inferred from mutant phenotype
14729481 MGI
acts upstream of or within mesoderm development IMP
IMP: Inferred from mutant phenotype
17117439 MGI
acts upstream of or within mesoderm formation IMP
IMP: Inferred from mutant phenotype
10479450 MGI
acts upstream of or within neural crest cell migration IMP
IMP: Inferred from mutant phenotype
15226263 MGI
NOT involved in outflow tract septum morphogenesis IMP
IMP: Inferred from mutant phenotype
16140292 MGI
acts upstream of or within pharyngeal system development IMP
IMP: Inferred from mutant phenotype
17078885 MGI
involved in positive regulation of SMAD protein signal transduction IMP
IMP: Inferred from mutant phenotype
16140292 MGI
involved in positive regulation of cardiac epithelial to mesenchymal transition IMP
IMP: Inferred from mutant phenotype
16140292 MGI
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
16140292 MGI
acts upstream of or within smooth muscle cell differentiation IMP
IMP: Inferred from mutant phenotype
17078885 MGI
acts upstream of or within transforming growth factor beta receptor signaling pathway IDA
IDA: Inferred from direct assay
11376112 MGI
involved in ventricular septum morphogenesis IMP
IMP: Inferred from mutant phenotype
16140292 MGI
Cellular Component GO Annotation Evidence Verweise Source
located in apical part of cell IDA
IDA: Inferred from direct assay
10704880 MGI
located in plasma membrane IDA
IDA: Inferred from direct assay
11376112 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Acvr1 Protein Structure

Activin_recp

Activin_recp: pfam01064 (32 - 102)

TGF_beta_GS

TGF_beta_GS: pfam08515 (178 - 205)

STKc_ACVR1_ALK1

STKc_ACVR1_ALK1: cd14142 (201 - 498)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 509 a.a.
Protein Preferred Names Protein Names

activin receptor type-1

  • TGF-B superfamily receptor type I

  • TSK-7L

  • TSR-I

  • activin receptor type I

  • serine/threonine-protein kinase receptor R1

Recombinant Acvr1 Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P75539 ACVR1 Protein, Mouse (HEK293, His-hFc) P37172 (V21-E123) ≥ 90%, as determined by reducing SDS-PAGE.

Related Agents

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname Wirkung
Reinheit Phase
HY-109179A Itacnosertib hydrochloride Inhibitor 99.43% Phase 2
Inhibitory Antibodies (1)
Art. -Nr. Produktname Wirkung
Reinheit Phase
HY-P990022 Prafnosbart Inhibitor / Phase 1

Pre-clinical Phase

Bioactive Molecules (16)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-112815 ALK2-IN-2 Inhibitor 99.93% Unkown
HY-109179 Itacnosertib Inhibitor 99.06% Unkown
HY-RS00242 ACVR1C Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00243 Acvr1c Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-112414 ALK2-IN-7 Inhibitor / Unkown
HY-RS00236 ACVR1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00237 Acvr1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00238 Acvr1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00239 ACVR1B Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00240 Acvr1b Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00241 Acvr1b Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00244 Acvr1c Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-W064657 Momelotinib dihydrochloride Inhibitor 99.56% Unkown
HY-174784 Human ACVR1C mRNA / Unkown
HY-174785 Human ACVR1B mRNA / Unkown
HY-174786 Human ACVR1 mRNA / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Acvr1 NCBI NCBI:90