hydrolase PNKD (paroxysmal nonkinesiogenic dyskinesia protein, myofibrillogenesis regulator 1, MR-1, trans-activated by hepatitis C virus core protein 2, PNKD, KIAA1184, MR1, TAHCCP2, FKSG19, UNQ2491/PRO5778)

Function

• probable hydrolase
• plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway (putative)
• isoform 2 interacts with the sarcomeric proteins, MRLC2, MYOM1 & ENO3
• isoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR

Structure

• belongs to the metallo-beta-lactamase superfamily, glyoxalase II family

Compartment

• isoform 1: membrane, peripheral membrane
• isoform 2: cytoplasm, nucleus
• isoform 3: mitochondrion

Alternative splicing

named isoforms=4

Expression

• isoform 1 is only expressed in the brain
• isoform 2 is ubiquitously detected with highest expression in skeletal muscle & detected in myocardial myofibrils
• variant Val-7 & Val-9 are detected in the brain only
• induced by Hepatitis C virus core protein

Pathology

• defects in PNKD are a cause of paroxysmal nonkinesiogenic dyskinesia type-1

Laboratory

• PNKD gene mutation

More general terms

• hydrolase
• phosphoprotein
• metalloprotein

Database

• OMIM: https://mirror.omim.org/entry/118800
• UniProt: http://www.uniprot.org/uniprot/Q8N490.html