Product Overview
Description
CLPP-00150233 is recombinant human ACVR1 protein, mutated G328W, Active
Applications
Functional Studies, SDS-PAGE
Protein Length
Protein fragment
Nature
Recombinant Protein
Sequence
MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSINDGFHVYQKGCFQVYEQGKMTCKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNFHLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPRDVEYGTIEGLITTNVGDSTLADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSRDEKSWFRETELYNTVMLRHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTLDTVSCLRIVLSIASGLAHLHIEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYKRVDIWAFGLVLWEVARRMVSNGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQNPSARLTALRIKKTLTKIDNSLDKLKTDC
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.
Target Information
Alternative Names
Activin A receptor type I; Activin A receptor type II like kinase 2; Activin receptor type I; Activin receptor type-1; Activin receptor-like kinase 2; ACTR-I; ACTRI; Acvr1; ACVR1_HUMAN; ACVR1A; ACVRLK2; ALK 2; ALK-2; ALK2; FOP; Hydroxyalkyl protein kinase; Serine/threonine-protein kinase receptor R1; SKR1; TGF-B superfamily receptor type I; TGFB superfamily receptor type I; TSR-I; TSRI
Protein 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 activin. May be involved for left-right pattern formation during embryogenesis.
Tissue Specificity
Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells.
Involvement in Disease
Defects in ACVR1 are a cause of fibrodysplasia ossificans progressiva (FOP). FOP is a rare autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification in FOP begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to extra-articular ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible.
Shipping & Handling
Constituents
0.79% Tris HCl, 0.87% Sodium chloride, 0.31% Glutathione, 0.003% EDTA, 0.004% DTT, 0.002% PMSF, 25% Glycerol (glycerin, glycerine).
Shipping
Shipped on Dry Ice.
