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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
General
hydrolase
metalloprotein
phosphoprotein
Properties
SIZE: entity length = 385 aa
MW = 43 kD
MOTIF: Ser phosphorylation site {121-121}
Zn+2-binding site
SITE: 172-172
Zn+2-binding site
SITE: 174-174
Zn+2-binding site
SITE: 176-176
Zn+2-binding site
SITE: 177-177
Zn+2-binding site
SITE: 229-229
Zn+2-binding site
SITE: 253-253
Substrate {291-293}
MOTIF: Zn+2-binding site
SITE: 291-291
Substrate {376-379}
Database Correlations
OMIM 118800
UniProt Q8N490
Pfam PF00753
References
- UniProt :accession Q8N490
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PNKD