P37023
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
56,124 Da
NCBI Official Full Name
ALK-1
NCBI Official Synonym Full Names
activin A receptor type II-like 1
NCBI Official Synonym Symbols
HHT; ALK1; HHT2; ORW2; SKR3; ALK-1; TSR-I; ACVRLK1 [Similar Products]
NCBI Protein Information
serine/threonine-protein kinase receptor R3; activin receptor-like kinase 1; TGF-B superfamily receptor type I; activin A receptor, type II-like kinase 1
UniProt Protein Name
Serine/threonine-protein kinase receptor R3
UniProt Synonym Protein Names
Activin receptor-like kinase 1; ALK-1; TGF-B superfamily receptor type I
UniProt Synonym Gene Names
UniProt Entry Name
ACVL1_HUMAN
NCBI Summary for ALK-1
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]
UniProt Comments for ALK-1
Function: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for TGF-beta. May bind activin as well.
Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.
Cofactor: Magnesium or manganese
Subcellular location: Membrane; Single-pass type I membrane protein.
Involvement in disease: Defects in ACVRL1 are the cause of hereditary hemorrhagic telangiectasia type 2 (HHT2) [
MIM:600376]; also known as Osler-Rendu-Weber syndrome 2 (ORW2). HHT2 is an autosomal dominant multisystemic vascular dysplasia, characterized by recurrent epistaxis, muco-cutaneous telangiectases, gastro-intestinal hemorrhage, and pulmonary, cerebral and hepatic arteriovenous malformations; all secondary manifestations of the underlying vascular dysplasia. Ref.3 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.14 Ref.15
Sequence similarities: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.Contains 1 GS domain.Contains 1 protein kinase domain.
Research Articles on ALK-1
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Products associated with anti-ALK-1 antibody
Pathways associated with anti-ALK-1 antibody
Diseases associated with anti-ALK-1 antibody
Organs/Tissues associated with anti-ALK-1 antibody
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