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PNKD

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GENERAL INFORMATION

Gene name

 PNKD

Gene description

 Paroxysmal nonkinesigenic dyskinesia

Protein class

 Disease related genes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the mitochondria.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Mitochondria (validated)

DATA RELIABILITY

Reliability score

 Validated based on 2 antibodies.
HPA010134 , HPA017068
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the mitochondria.

Main location

 Mitochondria (validated)

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA010134 A-431 Mitochondria
HPA010134 U-2 OS Mitochondria
HPA010134 U-251 MG Mitochondria
HPA017068 A-431 Mitochondria
HPA017068 U-2 OS Mitochondria
HPA017068 U-251 MG Mitochondria

GENE INFORMATION

Gene name

 PNKD (HGNC Symbol)

Synonyms

 BRP17, DKFZp564N1362, DYT8, FKSG19, FPD1, KIAA1184, KIPP1184, MGC31943, MR-1, PDC, PKND1, TAHCCP2

Description

 Paroxysmal nonkinesigenic dyskinesia (HGNC Symbol)

Entrez gene summary

 This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

Chromosome

 2

Cytoband

 q35

Chromosome location (bp)

 218270392 - 218346793

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000127838 (version 83.38)

Entrez gene

 25953

UniProt

 Q8N490 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8N490

Antibodypedia

 PNKD antibodies

PROTEIN BROWSER
PNKD-001
PNKD-002
PNKD-003
PNKD-007

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PNKD-001
ENSP00000273077
ENST00000273077
Q8N490 [Direct mapping]
Probable hydrolase PNKD
A0A024R415 [Target identity:100%; Query identity:100%]
Paroxysmal nonkinesiogenic dyskinesia, isoform CRA_a
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   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004416 [hydroxyacylglutathione hydrolase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0016020 [membrane]
GO:0019243 [methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione]
GO:0032225 [regulation of synaptic transmission, dopaminergic]
GO:0042053 [regulation of dopamine metabolic process]
GO:0046872 [metal ion binding]
GO:0046929 [negative regulation of neurotransmitter secretion]
GO:0050884 [neuromuscular process controlling posture]
Show all
 385 aa
42.9 kDa 		No 0
PNKD-002
ENSP00000258362
ENST00000258362
Q8N490 [Direct mapping]
Probable hydrolase PNKD
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004416 [hydroxyacylglutathione hydrolase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0016020 [membrane]
GO:0019243 [methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione]
GO:0046872 [metal ion binding]
Show all
 361 aa
40.7 kDa 		Yes 1
PNKD-003
ENSP00000248451
ENST00000248451
Q8N490 [Direct mapping]
Probable hydrolase PNKD
Show all
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   TMHMM predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004416 [hydroxyacylglutathione hydrolase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0016020 [membrane]
GO:0019243 [methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione]
GO:0046872 [metal ion binding]
Show all
 142 aa
15.4 kDa 		No 0
PNKD-007
ENSP00000414400
ENST00000436005
Q8N490 [Direct mapping]
Probable hydrolase PNKD
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004416 [hydroxyacylglutathione hydrolase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0016020 [membrane]
GO:0019243 [methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione]
GO:0046872 [metal ion binding]
Show all
 325 aa
36.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.