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Aliases for PNKD Gene

Aliases for PNKD Gene

  • Paroxysmal Nonkinesigenic Dyskinesia 2 3
  • Myofibrillogenesis Regulator 1 2 3 4
  • TAHCCP2 3 4 6
  • MR1 3 4 6
  • Trans-Activated By Hepatitis C Virus Core Protein 2 3 4
  • KIPP1184 3 6
  • BRP17 3 6
  • DYT8 3 6
  • FPD1 3 6
  • MR-1 3 4
  • PDC 3 6
  • Paroxysmal Nonkinesiogenic Dyskinesia Protein 4
  • Paroxysmal Nonkinesiogenic Dyskinesia 2
  • Probable Hydrolase PNKD 3
  • Brain Protein 17 3
  • EC 3.-.-.- 4
  • KIAA1184 4
  • FKSG19 3
  • PKND1 3

External Ids for PNKD Gene

Previous GeneCards Identifiers for PNKD Gene

  • GC02U990078
  • GC02P218843
  • GC02P219135
  • GC02P210988

Summaries for PNKD Gene

Entrez Gene Summary for PNKD Gene

  • 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]

GeneCards Summary for PNKD Gene

PNKD (Paroxysmal Nonkinesigenic Dyskinesia) is a Protein Coding gene. Diseases associated with PNKD include paroxysmal nonkinesigenic dyskinesia and familial paroxysmal nonkinesigenic dyskinesia. Among its related pathways are Olfactory Signaling Pathway. GO annotations related to this gene include hydroxyacylglutathione hydrolase activity. An important paralog of this gene is HAGH.

UniProtKB/Swiss-Prot for PNKD Gene

  • Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.

Gene Wiki entry for PNKD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNKD Gene

Genomics for PNKD Gene

Regulatory Elements for PNKD Gene

Genomic Location for PNKD Gene

Start:
218,270,392 bp from pter
End:
218,346,793 bp from pter
Size:
76,402 bases
Orientation:
Plus strand

Genomic View for PNKD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PNKD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNKD Gene

Proteins for PNKD Gene

  • Protein details for PNKD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N490-PNKD_HUMAN
    Recommended name:
    Probable hydrolase PNKD
    Protein Accession:
    Q8N490
    Secondary Accessions:
    • A8K1F2
    • Q96A48
    • Q9BU26
    • Q9NSX4
    • Q9ULN6
    • Q9Y4T1

    Protein attributes for PNKD Gene

    Size:
    385 amino acids
    Molecular mass:
    42876 Da
    Quaternary structure:
    • Isoform 2 interacts with the sarcomeric proteins, MRLC2, MYOM1 and ENO3.

    Alternative splice isoforms for PNKD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNKD Gene

Proteomics data for PNKD Gene at MOPED

Post-translational modifications for PNKD Gene

  • Isoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PNKD Gene

No data available for DME Specific Peptides for PNKD Gene

Domains for PNKD Gene

Protein Domains for PNKD Gene

Suggested Antigen Peptide Sequences for PNKD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N490

UniProtKB/Swiss-Prot:

PNKD_HUMAN :
  • Q8N490
Family:
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
genes like me logo Genes that share domains with PNKD: view

No data available for Gene Families for PNKD Gene

Function for PNKD Gene

Molecular function for PNKD Gene

UniProtKB/Swiss-Prot Function: Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.
UniProtKB/Swiss-Prot Induction: By Hepatitis C virus core protein.

Enzyme Numbers (IUBMB) for PNKD Gene

Gene Ontology (GO) - Molecular Function for PNKD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004416 hydroxyacylglutathione hydrolase activity IEA --
GO:0005515 protein binding IPI 25066297
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with PNKD: view
genes like me logo Genes that share phenotypes with PNKD: view

Animal Models for PNKD Gene

MGI Knock Outs for PNKD:

Animal Model Products

CRISPR Products

miRNA for PNKD Gene

miRTarBase miRNAs that target PNKD

No data available for Transcription Factor Targeting and HOMER Transcription for PNKD Gene

Localization for PNKD Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNKD Gene

Isoform 1: Membrane; Peripheral membrane protein.
Isoform 2: Cytoplasm. Nucleus.
Isoform 3: Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PNKD Gene COMPARTMENTS Subcellular localization image for PNKD gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 2
cytosol 1

Gene Ontology (GO) - Cellular Components for PNKD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion IDA --
GO:0016020 membrane IDA 22214848
genes like me logo Genes that share ontologies with PNKD: view

Pathways for PNKD Gene

SuperPathways for PNKD Gene

Superpath Contained pathways
1 Olfactory Signaling Pathway
genes like me logo Genes that share pathways with PNKD: view

Pathways by source for PNKD Gene

1 KEGG pathway for PNKD Gene

Gene Ontology (GO) - Biological Process for PNKD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006750 glutathione biosynthetic process IEA --
GO:0032225 regulation of synaptic transmission, dopaminergic IEA --
GO:0042053 regulation of dopamine metabolic process IEA --
GO:0050884 neuromuscular process controlling posture IEA --
genes like me logo Genes that share ontologies with PNKD: view

Compounds for PNKD Gene

(5) Novoseek inferred chemical compound relationships for PNKD Gene

Compound -log(P) Hits PubMed IDs
2-oxo acid 83.9 1
alpha-ketoglutarate 63.2 1
caffeine 53.3 1
pyruvate 52 4
glucose 0 2
genes like me logo Genes that share compounds with PNKD: view

Transcripts for PNKD Gene

Unigene Clusters for PNKD Gene

Paroxysmal nonkinesigenic dyskinesia:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PNKD

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PNKD Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - -
SP2:
SP3:
SP4: -

Relevant External Links for PNKD Gene

GeneLoc Exon Structure for
PNKD
ECgene alternative splicing isoforms for
PNKD

Expression for PNKD Gene

mRNA expression in normal human tissues for PNKD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PNKD Gene

This gene is overexpressed in Liver (5.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PNKD Gene

SOURCE GeneReport for Unigene cluster for PNKD Gene Hs.98475

mRNA Expression by UniProt/SwissProt for PNKD Gene

Q8N490-PNKD_HUMAN
Tissue specificity: Isoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest expression in skeletal muscle and detected in myocardial myofibrils. Variant Val-7 and Val-9 are detected in the brain only.
genes like me logo Genes that share expressions with PNKD: view

In Situ Assay Products

Orthologs for PNKD Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PNKD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PNKD 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PNKD 35
  • 92.03 (n)
  • 94.29 (a)
PNKD 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PNKD 35
  • 91.34 (n)
  • 92.99 (a)
PNKD 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pnkd 35
  • 90.56 (n)
  • 96.1 (a)
Pnkd 16
Pnkd 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PNKD 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnkd 35
  • 91.69 (n)
  • 95.84 (a)
chicken
(Gallus gallus)
Aves PNKD 35
  • 68.52 (n)
  • 62.62 (a)
PNKD 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNKD 36
  • 57 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15656 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pnkd 35
  • 66.34 (n)
  • 65.03 (a)
zebrafish
(Danio rerio)
Actinopterygii pnkd 35
  • 62.13 (n)
  • 61.08 (a)
pnkd 36
  • 56 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y17G7B.3 36
  • 35 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLO2 36
  • 28 (a)
ManyToMany
GLO4 36
  • 29 (a)
ManyToMany
Species with no ortholog for PNKD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PNKD Gene

ENSEMBL:
Gene Tree for PNKD (if available)
TreeFam:
Gene Tree for PNKD (if available)

Paralogs for PNKD Gene

Paralogs for PNKD Gene

Selected SIMAP similar genes for PNKD Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for PNKD Gene

genes like me logo Genes that share paralogs with PNKD: view

Variants for PNKD Gene

Sequence variations from dbSNP and Humsavar for PNKD Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs11114 -- 218,272,871(-) TTGGC(A/T)ACAGC utr-variant-3-prime, intron-variant
rs719383 -- 218,312,772(-) cctca(C/G)cctcc intron-variant
rs921969 -- 218,307,090(+) TTGGC(A/G)GACCT intron-variant
rs930883 -- 218,307,689(+) CTACC(A/G)TGGGG intron-variant
rs1017697 -- 218,305,739(+) CATTC(A/G)TTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PNKD Gene

Variant ID Type Subtype PubMed ID
nsv875854 CNV Gain 21882294
nsv519829 CNV Loss 19592680

Relevant External Links for PNKD Gene

HapMap Linkage Disequilibrium report
PNKD
Human Gene Mutation Database (HGMD)
PNKD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNKD Gene

Disorders for PNKD Gene

(1) OMIM Diseases for PNKD Gene (609023)

UniProtKB/Swiss-Prot

PNKD_HUMAN
  • Dystonia 8 (DYT8) [MIM:118800]: A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face. {ECO:0000269 PubMed:15262732, ECO:0000269 PubMed:15824259, ECO:0000269 PubMed:16632198, ECO:0000269 PubMed:16717228, ECO:0000269 PubMed:16972263}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for PNKD Gene

Disease -log(P) Hits PubMed IDs
biliary cirrhosis primary 65.6 1

Relevant External Links for PNKD

GeneTests
PNKD
GeneReviews
PNKD
Genetic Association Database (GAD)
PNKD
Human Genome Epidemiology (HuGE) Navigator
PNKD
genes like me logo Genes that share disorders with PNKD: view

Publications for PNKD Gene

  1. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. (PMID: 15824259) Chen D.-H. … Raskind W.H. (Arch. Neurol. 2005) 3 4 23
  2. Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. (PMID: 16632198) Hempelmann A. … Sander T. (Neurosci. Lett. 2006) 3 4 23
  3. Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. (PMID: 16972263) Stefanova E. … Kostic V.S. (Mov. Disord. 2006) 3 4 23
  4. Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. (PMID: 16717228) Spacey S.D. … Hsiung G.Y. (Neurology 2006) 4 23
  5. Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. (PMID: 19124534) Ghezzi D. … Zeviani M. (Hum. Mol. Genet. 2009) 3 23

Products for PNKD Gene

Sources for PNKD Gene

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