Acvrl1 - activin A receptor, type II-like 1 Gene

Also Known as Alk1; Acvrlk1

Species: Mus musculus

Gene Type: protein coding
Gene ID: 11482

About Acvrl1

Chromosome 15: 101,026,403-101,043,217 forward strand.GRCm39:CM001008.3

This gene has 11 transcripts (splice variants), 358 orthologues, 11 paralogues and is associated with 53 phenotypes. Biased expression in lung adult (RPKM 194.2), subcutaneous fat pad adult (RPKM 18.5) and 5 other tissues.

Summary

Predicted to enable several functions, including ATP binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in several processes, including regulation of endothelial cell differentiation; regulation of endothelial cell proliferation; and vasculature development. Acts upstream of or within several processes, including angiogenesis; positive regulation of angiogenesis; and transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to be located in cell surface; dendrite; and neuronal cell body. Predicted to be integral component of plasma membrane. Predicted to be part of BMP Receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and immune system. Used to study arteriovenous malformations of the brain and hereditary hemorrhagic telangiectasia. Human ortholog(s) of this gene implicated in hereditary hemorrhagic telangiectasia and pulmonary hypertension. Orthologous to human ACVRL1 (Activin A receptor like type 1). [provided by Alliance of Genome Resources, Apr 2022]

Acvrl1 Products (5)

mRNA Protein Name
NM_001277259.1 NP_001264188.1 serine/threonine-protein kinase receptor R3 isoform a precursor
NM_001277257.1 NP_001264186.1 serine/threonine-protein kinase receptor R3 isoform a precursor
NM_001277255.1 NP_001264184.1 serine/threonine-protein kinase receptor R3 isoform b
NM_009612.3 NP_033742.2 serine/threonine-protein kinase receptor R3 isoform a precursor
NM_001277258.1 NP_001264187.1 serine/threonine-protein kinase receptor R3 isoform a precursor

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
14580334 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within BMP signaling pathway IMP
IMP: Inferred from mutant phenotype
22783020 MGI
acts upstream of or within angiogenesis IMP
IMP: Inferred from mutant phenotype
10716993 MGI
involved in artery development IMP
IMP: Inferred from mutant phenotype
19903896 MGI
acts upstream of or within blood vessel morphogenesis IMP
IMP: Inferred from mutant phenotype
17530030 MGI
involved in blood vessel remodeling IMP
IMP: Inferred from mutant phenotype
19903896 MGI
involved in cellular response to transforming growth factor beta stimulus IDA
IDA: Inferred from direct assay
19494318 MGI
involved in dorsal aorta morphogenesis IMP
IMP: Inferred from mutant phenotype
12941632 MGI
involved in endocardial cushion morphogenesis IMP
IMP: Inferred from mutant phenotype
12941632 MGI
NOT involved in endocardial cushion to mesenchymal transition IMP
IMP: Inferred from mutant phenotype
12941632 MGI
acts upstream of or within in utero embryonic development IMP
IMP: Inferred from mutant phenotype
17911384 MGI
involved in lymphangiogenesis IMP
IMP: Inferred from mutant phenotype
19903896 MGI
involved in lymphatic endothelial cell differentiation IMP
IMP: Inferred from mutant phenotype
19903896 MGI
involved in negative regulation of endothelial cell differentiation IDA
IDA: Inferred from direct assay
20406889 MGI
involved in negative regulation of endothelial cell proliferation IDA
IDA: Inferred from direct assay
20406889 MGI
involved in negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
12941632 MGI
involved in positive regulation of BMP signaling pathway IDA
IDA: Inferred from direct assay
20406889 MGI
involved in positive regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
20406889 MGI
acts upstream of or within positive regulation of angiogenesis IGI
IGI: Inferred from genetic interaction
23868260 MGI
involved in positive regulation of endothelial cell differentiation IDA
IDA: Inferred from direct assay
20406889 MGI
involved in positive regulation of endothelial cell proliferation IDA
IDA: Inferred from direct assay
20406889 MGI
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
12941632 MGI
involved in retina vasculature development in camera-type eye IMP
IMP: Inferred from mutant phenotype
19903896 MGI
acts upstream of or within transforming growth factor beta receptor signaling pathway IDA
IDA: Inferred from direct assay
14580334 MGI
involved in venous blood vessel development IMP
IMP: Inferred from mutant phenotype
19903896 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

Acvrl1 Protein Structure

TGF_beta_GS

TGF_beta_GS: pfam08515 (172 - 198)

STKc_ACVR1_ALK1

STKc_ACVR1_ALK1: cd14142 (194 - 491)

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

serine/threonine-protein kinase receptor R3

  • SKR3

  • TGF-B superfamily receptor type I

  • TSR-I

  • activin receptor-like kinase 1

Recombinant Acvrl1 Proteins

Cat. No. Product Name Accession Purity
HY-P7481 ACVRL1/ALK1 Protein, Mouse (HEK293, Fc) Q61288 (D23-P119) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P72819 ACVRL1/ALK1 Protein, Mouse (HEK293, His-Fc) Q61288 (D23-P119) ≥ 95%, as determined by reducing SDS-PAGE.

Related Agents

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Inhibitory Antibodies (1)
Cat. No. Product Name Effect
Purity Phase
HY-P99353 Ascrinvacumab Inhibitor 97.45% Phase 2

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00251 ACVRL1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00252 Acvrl1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00253 Acvrl1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-174781 Human ACVRL1 mRNA / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Acvrl1 NCBI NCBI:94