PNKD (PNKD metallo-beta-lactamase domain containing)

2013-03-01  

Identity

HGNC
LOCATION
2q35
LOCUSID
ALIAS
BRP17,DYT8,FKSG19,FPD1,KIPP1184,MR-1,MR-1S,MR1,PDC,PKND1,PNKD1,R1,TAHCCP2
FUSION GENES

Other Information

Locus ID:

NCBI: 25953
MIM: 609023
HGNC: 9153
Ensembl: ENSG00000127838

Variants:

dbSNP: 25953
ClinVar: 25953
TCGA: ENSG00000127838
COSMIC: PNKD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127838ENST00000248451Q8N490
ENSG00000127838ENST00000258362Q8N490
ENSG00000127838ENST00000273077Q8N490
ENSG00000127838ENST00000273077A0A024R415
ENSG00000127838ENST00000436005Q8N490

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
206208732010An epilepsy/dyskinesia-associated mutation enhances BK channel activation by potentiating Ca2+ sensing.47
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
265984942015The clinical and genetic heterogeneity of paroxysmal dyskinesias.22
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
281998442017MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase.16
270054242016Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.15
189482722008MR-1 modulates proliferation and migration of human hepatoma HepG2 cells through myosin light chains-2 (MLC2)/focal adhesion kinase (FAK)/Akt signaling pathway.14
151880562004Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle.12
158242592005Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.12
214870222011Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.12

Citation

Dessen P

PNKD (PNKD metallo-beta-lactamase domain containing)

Atlas Genet Cytogenet Oncol Haematol. 2013-03-01

Online version: http://atlasgeneticsoncology.org/gene/53200/pnkd