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Tbio
PNKD
Probable hydrolase PNKD

Protein Summary
Description
Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000248451
  • ENSP00000248451
  • ENSG00000127838
  • ENST00000258362
  • ENSP00000258362
  • ENST00000273077
  • ENSP00000273077
  • ENST00000436005
  • ENSP00000414400

Symbol
  • KIAA1184
  • MR1
  • TAHCCP2
  • MR1
  • PDC
  • DYT8
  • FPD1
  • MR-1
  • BRP17
  • MR-1S
  • PKND1
  • PNKD1
  • FKSG19
  • TAHCCP2
  • KIPP1184
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor
0.9
transcription factor binding site profile
0.88
disease perturbation
0.87
transcription factor perturbation
0.8
virus perturbation
0.68


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 46.72   (req: < 5)
Gene RIFs: 20   (req: <= 3)
Antibodies: 119   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 46.72   (req: >= 5)
Gene RIFs: 20   (req: > 3)
Antibodies: 119   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (34)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
4
4
4
96.9
mean platelet volume
3
3
5
94.2
reticulocyte count
6
4
6
92.1
monocyte count
2
2
2
90.5
reticulocyte measurement
3
3
4
90
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
4
96.9
mean platelet volume
5
94.2
reticulocyte count
6
92.1
monocyte count
2
90.5
reticulocyte measurement
4
90
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
paroxysmal nonkinesigenic dyskinesia
459941
Mouse
MGI:1930773
56695
Rat
RGD:2300155
100188944
Dog
paroxysmal nonkinesigenic dyskinesia
VGNC:44742
610423
Horse
paroxysmal nonkinesigenic dyskinesia
VGNC:52420
100055676
Species
Name
OMA
EggNOG
Inparanoid
Chimp
paroxysmal nonkinesigenic dyskinesia
Mouse
Rat
Dog
paroxysmal nonkinesigenic dyskinesia
Horse
paroxysmal nonkinesigenic dyskinesia
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q8N490-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Gene Ontology Terms (10)
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
Inferred from Electronic Annotation (IEA)
InterPro
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (122)
1 – 10 of 122
PRMT9
Tbio
Family:  Enzyme
Novelty:  0.26898134
p_int:  0.999999775
p_ni:  2.25e-7
Score:  0.186
Data Source:  BioPlex,STRINGDB
MLXIP
Tbio
Family:  TF
Novelty:  0.04454634
p_int:  0.999999009
p_ni:  7.87e-7
p_wrong:  2.04e-7
Score:  0.169
Data Source:  BioPlex,STRINGDB
GOLPH3L
Tbio
Novelty:  0.30373124
p_int:  0.999998128
p_ni:  0.000001872
Data Source:  BioPlex
DCUN1D5
Tchem
Novelty:  0.56719852
p_int:  0.999995883
p_ni:  0.000004115
p_wrong:  2e-9
Data Source:  BioPlex
LSS
Tchem
Family:  Enzyme
Novelty:  0.00735187
p_int:  0.999993192
p_ni:  0.000006805
p_wrong:  3e-9
Score:  0.183
Data Source:  BioPlex,STRINGDB
GOLPH3
Tbio
Novelty:  0.00020234
p_int:  0.999991773
p_ni:  0.000008227
Data Source:  BioPlex
MIGA1
Tbio
Novelty:  0.08346483
p_int:  0.99996644
p_ni:  0.00003356
Data Source:  BioPlex
RADIL
Tbio
Novelty:  0.08747353
p_int:  0.99991259
p_ni:  0.000087377
p_wrong:  3.2e-8
Data Source:  BioPlex
ARL2BP
Tbio
Novelty:  0.03460574
p_int:  0.99989952
p_ni:  0.000091819
p_wrong:  0.000008662
Data Source:  BioPlex
PBXIP1
Tbio
Novelty:  0.15404864
p_int:  0.999895062
p_ni:  0.000104938
Data Source:  BioPlex
Publication Statistics
PubMed Score  46.72

PubMed score by year
PubTator Score  47.45

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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