ALK-1 Active Protein | ACVRL1 active protein

ALK-1 Protein, Human, Recombinant (hFc Tag)

Cat. Num. AAA8119980

• Gene Names: ACVRL1; HHT; ALK1; HHT2; ORW2; SKR3; ALK-1; TSR-I; ACVRLK1
• Purity: >97% as determined by SDS-PAGE
• Synonyms: ALK-1; ALK-1 Protein; Human; Recombinant (hFc Tag); Human ALK-1/ACVRL1 Protein (Fc Tag); ACVRLK1 Protein; ALK1 Protein; HHT Protein; HHT2 Protein; ORW2 Protein; SKR3 Protein; TSR-I Protein; activin A receptor type II-like 1; ACVRL1 active protein

• Host: HEK293 Cells
• Purity/Purification: >97% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH7.4. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Met1-Gln118

• Species: Human
• Endotoxin: <1.0EU per ug of the protein as determined by the LAL method
• Predicted N Terminal: Asp 22
• Tag: C-human IgG1-Fc
• Protein Construction: A DNA sequence encoding the N-terminal segment (Met 1-Gln 118) of the extracellular domain of human ALK1 (NP_000011.2) pro-protein was fused with the Fc region of human IgG1 at the C-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Activity: 1. Measured by its ability to bind Human ENG-Fc in functional Elisa.; 2. Measured by its ability to inhibit BMP9 induced alkaline phosphatase production by MC3T3E1 mouse chondrogenic cells. David, L. et al. (2007) Blood 109:1953. The ED50 for this effect is typically 5-15ng/mL in the presence of 2ng/mL of recombiant human BMP9.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Testing Data

(Measured by its ability to inhibit BMP9 induced alkaline phosphatase production by MC3T3E1 mouse chondrogenic cells. David, L. et al. (2007) Blood 109:1953. The ED50 for this effect is typically 5-15 ng/mL in the presence of 2 ng/mL of recombiant human BMP9.)

Related Product Information for ACVRL1 active protein

Background: Activin A receptor, type II-like 1 (ACVRL1), also known as ALK-1 (activin receptor-like kinase 1), is an endothelial-specific type I receptor of the TGF-beta (transforming growth factor beta) receptor family of ligands. On ligand binding, a heteromeric receptor complex forms consisting of two type II and two type I transmembrane serine/threonine kinases. ACVRL1 protein is expressed in certain blood vessels of kidney, spleen, heart and intestine, serving as an important role during vascular development. Mutations in ACVRL1 gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2 and vascular disease.

References

French Rendu-Osler network,et al. (2004) Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat. 23(4): 289-299.Simon M, et al. (2006) Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system. J Neurosurg. 104(6): 945-9.Argyriou L, et al. (2006) Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia. Int J Mol Med. 17(4):655-9.

NCBI and Uniprot Product Information

• NCBI GI #: 116734712
• NCBI GeneID: 94
• NCBI Accession #: NP_000011.2
• NCBI GenBank Nucleotide #: NM_000020.2
• UniProt Accession #: P37023; A6NGA8
• Molecular Weight: 56,124 Da
• NCBI Official Full Name: serine/threonine-protein kinase receptor R3
• NCBI Official Synonym Full Names: activin A receptor type II-like 1
• NCBI Official Symbol: ACVRL1
• NCBI Official Synonym Symbols: HHT; ALK1; HHT2; ORW2; SKR3; ALK-1; TSR-I; ACVRLK1
• NCBI Protein Information: serine/threonine-protein kinase receptor R3; TGF-B superfamily receptor type I; activin A receptor, type II-like kinase 1
• UniProt Protein Name: Serine/threonine-protein kinase receptor R3
• Protein Family: Serine/threonine-protein kinase receptor
• UniProt Gene Name: ACVRL1
• UniProt Synonym Gene Names: ACVRLK1; ALK1; SKR3; ALK-1; TSR-I
• UniProt Entry Name: ACVL1_HUMAN

NCBI Description

This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]

Uniprot Description

ALK1: a kinase of the STKR family. A type I cell-surface receptor for the TGF-beta superfamily of ligands including Activin A. Highly expressed in human placenta and lung. Deficiency causes hemorrhagic telangiectasia type 2 also known as Rendu-Osler-Weber syndrome 2.

Protein type: Membrane protein, integral; Kinase, protein; Protein kinase, Ser/Thr (receptor); EC 2.7.11.30; Protein kinase, TKL; TKL group; STKR family; Type1 subfamily

Chromosomal Location of Human Ortholog: 12q13.13

Cellular Component: cell surface; cell soma; integral to plasma membrane; dendrite

Molecular Function: transforming growth factor beta receptor activity; protein serine/threonine kinase activity; protein binding; activin receptor activity, type I; transforming growth factor beta binding; transforming growth factor beta receptor activity, type I; metal ion binding; activin binding; SMAD binding; protein kinase binding; ATP binding; transmembrane receptor protein serine/threonine kinase activity; receptor signaling protein serine/threonine kinase activity

Biological Process: blood circulation; protein heterooligomerization; positive regulation of transcription, DNA-dependent; activin receptor signaling pathway; negative regulation of cell adhesion; signal transduction; regulation of blood vessel endothelial cell migration; protein amino acid phosphorylation; BMP signaling pathway; negative regulation of cell proliferation; positive regulation of endothelial cell differentiation; regulation of transcription, DNA-dependent; negative regulation of endothelial cell differentiation; transforming growth factor beta receptor signaling pathway; regulation of blood pressure; lymphangiogenesis; angiogenesis; negative regulation of cell migration; positive regulation of BMP signaling pathway; regulation of DNA replication; regulation of endothelial cell proliferation; in utero embryonic development; negative regulation of focal adhesion formation; negative regulation of blood vessel endothelial cell migration; blood vessel maturation; blood vessel endothelial cell proliferation during sprouting angiogenesis; positive regulation of angiogenesis; positive regulation of chondrocyte differentiation; negative regulation of endothelial cell proliferation; blood vessel remodeling; positive regulation of transcription from RNA polymerase II promoter; positive regulation of endothelial cell proliferation; negative regulation of cell growth; wound healing, spreading of epidermal cells

Disease: Telangiectasia, Hereditary Hemorrhagic, Type 2