LMPD Database

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LMP001478

UniProt Annotations

Entry Information
Gene Namecholine kinase beta
Protein EntryCHKB_MOUSE
UniProt IDO55229
SpeciesMouse
Comments
Comment typeDescription
Catalytic ActivityATP + choline = ADP + phosphocholine.
Catalytic ActivityATP + ethanolamine = ADP + O- phosphoethanolamine.
DiseaseNote=Defects in Chkb are a cause of rostrocaudal muscular dystrophy (rmd). The disease is characterized by rapidly progressive muscular dystrophy and neonatal forelimb bone deformity. The dystrophy is only evident in skeletal muscle tissues in an unusual rostral-to-caudal gradient. {ECO:0000269|PubMed:16371353}.
Disruption PhenotypeHindlimb muscular dystrophy. Hindlimb skeletal muscle tissue exhibits impaired phosphatidylcholine biosynthesis and increased phosphatidylcholine catabolism, with concomitant accumulation of choline. Mitochondria are abnormally large and exhibit decreased inner membrane potential. {ECO:0000269|PubMed:19236939}.
FunctionHas a key role in phospholipid biosynthesis. Catalyzes the first step in phosphatidylethanolamine biosynthesis. Phosphorylates ethanolamine, and can also act on choline (in vitro). Has higher activity with ethanolamine. May not significantly contribute to in vivo phosphatidylcholine biosynthesis (By similarity). {ECO:0000250}.
PathwayPhospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3.
SimilarityBelongs to the choline/ethanolamine kinase family. {ECO:0000305}.
SubunitHomodimer, and heterodimer with CHKA. {ECO:0000269|PubMed:16490392}.
Tissue SpecificityExpressed ubiquitously with the highest level in testis.