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serine/threonine protein kinase receptor R3; SKR3; activin receptor-like kinase 1; ALK-1; TGF-B superfamily receptor type I; TSR-I (ACVRL1 ACVRLK1 ALK1)
Function:
- receptor for TGF-beta
- may bind activin as well
- on ligand binding, forms a receptor complex consisting of 2 type II & 2 type I transmembrane serine/threonine kinases
- type II receptors phosphorylate & activate type I receptors which autophosphorylate, then bind & activate SMAD transcriptional regulators
Cofactor: Mg+2 or Mn+2 (putative)
Structure:
- belongs to the protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily
- contains 1 GS domain
- contains 1 protein kinase domain
Compartment: membrane
Pathology:
- defects in ACVRL1 are the cause of Osler-Weber-Rendu syndrome 2
General
activin receptor like kinase (ALK)
glycoprotein
serine/threonine kinase receptor
Properties
SIZE: entity length = 503 aa
MW = 56 kD
COMPARTMENT: cellular membrane
STATE: active state
MOTIF: signal sequence {1-21}
N-glycosylation site {N98}
transmembrane domain {119-141}
GS {172-201}
kinase domain
SITE: 202-492
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 208-216
ATP-binding site
NAME: ATP-binding site
SITE: 229-229
aspartate residue {D330}
Database Correlations
OMIM correlations
MORBIDMAP 601284
UniProt P37023
PFAM correlations
KEGG correlations
ENZYME 2.7.11.30
References
- UniProt :accession P37023
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ACVRL1