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Aliases for PXK Gene

Aliases for PXK Gene

  • PX Domain Containing Serine/Threonine Kinase Like 2 3 5
  • MONaKA 3 4
  • PX Domain-Containing Protein Kinase-Like Protein 3
  • PX Domain Containing Serine/Threonine Kinase 2
  • Modulator Of Na,K-ATPase Long Form 3
  • PX Serine/Threonine Kinase 3
  • Modulator Of Na,K-ATPase 4
  • PX Ser/Thr Kinase V2 3

External Ids for PXK Gene

Previous GeneCards Identifiers for PXK Gene

  • GC03P058173
  • GC03P058275
  • GC03P058293

Summaries for PXK Gene

Entrez Gene Summary for PXK Gene

  • This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for PXK Gene

PXK (PX Domain Containing Serine/Threonine Kinase Like) is a Protein Coding gene. Diseases associated with PXK include Systemic Lupus Erythematosus. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and nucleotide binding.

UniProtKB/Swiss-Prot for PXK Gene

  • Binds to and modulates brain Na,K-ATPase subunits ATP1B1 and ATP1B3 and may thereby participate in the regulation of electrical excitability and synaptic transmission. May not display kinase activity.

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

Genomics for PXK Gene

Regulatory Elements for PXK Gene

Enhancers for PXK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F058382 1.3 FANTOM5 Ensembl ENCODE 42.3 +53.5 53520 6.9 JUN TEAD4 SIN3A MAX RAD21 ZNF664 ZNF316 POLR2A FOS MAFK PXK RPP14 FAM107A ENSG00000255154 ACOX2 ENSG00000243384 PDHB FLNB-AS1 ENSG00000275607 ENSG00000272182
GH03F058469 1.7 FANTOM5 Ensembl ENCODE 22.3 +138.7 138745 3.4 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 FOS SP3 SP5 RPP14 PXK PDHB LOC105377110 KCTD6 ACOX2 ENSG00000255154 FAM107A ENSG00000243384 ENSG00000272182
GH03F058422 0.6 ENCODE 40.9 +89.9 89948 1.3 CTCF ZNF654 POLR2A SMC3 RAD21 TEAD3 PXK RPP14 ACOX2 ENSG00000272182 ENSG00000275607
GH03F058348 1.7 FANTOM5 Ensembl ENCODE 13.8 +20.4 20421 9.4 HDGF FEZF1 ZNF2 YY1 ZNF766 CBX5 ZNF143 ZNF416 FOS ZNF263 DENND6A FLNB-AS1 RPP14 LOC105377110 PXK FLNB DNASE1L3 ABHD6 PDHB LOC105377106
GH03F058414 0.9 Ensembl ENCODE 25.3 +81.9 81911 0.4 CTCF ZNF654 ZNF146 CEBPB TRIM22 REST RAD21 RFX5 ZNF664 IKZF1 PXK ENSG00000255154 RPP14 ABHD6 FLNB-AS1 FLNB ACOX2 ENSG00000272182 ENSG00000275607
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PXK on UCSC Golden Path with GeneCards custom track

Promoters for PXK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001479603 1120 3201 HDGF ARID4B SIN3A FEZF1 ZNF2 CBX5 ZNF416 ZNF207 ZNF143 FOS

Genomic Location for PXK Gene

Chromosome:
3
Start:
58,332,880 bp from pter
End:
58,426,127 bp from pter
Size:
93,248 bases
Orientation:
Plus strand

Genomic View for PXK Gene

Genes around PXK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PXK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PXK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PXK Gene

Proteins for PXK Gene

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

    Protein Symbol:
    Q7Z7A4-PXK_HUMAN
    Recommended name:
    PX domain-containing protein kinase-like protein
    Protein Accession:
    Q7Z7A4
    Secondary Accessions:
    • Q3BCH4
    • Q3BCH5
    • Q3BCH6
    • Q3BDW1
    • Q45L83
    • Q59EX3
    • Q6PK17
    • Q6ZN39
    • Q96CA3
    • Q96R07
    • Q9NXB8

    Protein attributes for PXK Gene

    Size:
    578 amino acids
    Molecular mass:
    64950 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH14479.1; Type=Erroneous termination; Positions=451; Note=Translated as Gly.; Evidence={ECO:0000305}; Sequence=BAA91097.1; Type=Frameshift; Positions=569; Evidence={ECO:0000305}; Sequence=BAD18536.1; Type=Frameshift; Positions=510; Evidence={ECO:0000305}; Sequence=BAD92925.1; Type=Frameshift; Positions=147; Evidence={ECO:0000305};

    Alternative splice isoforms for PXK Gene

neXtProt entry for PXK Gene

Post-translational modifications for PXK Gene

  • Ubiquitination at Lys 406
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PXK Gene

Domains & Families for PXK Gene

Gene Families for PXK Gene

Protein Domains for PXK Gene

Suggested Antigen Peptide Sequences for PXK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z7A4

UniProtKB/Swiss-Prot:

PXK_HUMAN :
  • The protein kinase domain is predicted to be catalytically inactive.
  • Belongs to the protein kinase superfamily.
Domain:
  • The protein kinase domain is predicted to be catalytically inactive.
  • Contains 1 protein kinase domain.
  • Contains 1 PX (phox homology) domain.
  • Contains 1 WH2 domain.
Family:
  • Belongs to the protein kinase superfamily.
genes like me logo Genes that share domains with PXK: view

Function for PXK Gene

Molecular function for PXK Gene

UniProtKB/Swiss-Prot Function:
Binds to and modulates brain Na,K-ATPase subunits ATP1B1 and ATP1B3 and may thereby participate in the regulation of electrical excitability and synaptic transmission. May not display kinase activity.

Gene Ontology (GO) - Molecular Function for PXK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 NOT nucleotide binding NAS 16142408
GO:0003779 actin binding IEA --
GO:0004672 NOT protein kinase activity IEA,NAS 16142408
GO:0005524 NOT ATP binding IEA,NAS 16142408
GO:0035091 phosphatidylinositol binding IEA --
genes like me logo Genes that share ontologies with PXK: view
genes like me logo Genes that share phenotypes with PXK: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PXK Gene

Localization for PXK Gene

Subcellular locations from UniProtKB/Swiss-Prot for PXK Gene

Cytoplasm. Cell membrane; Peripheral membrane protein. Note=Also associates with the plasma membrane. Isoform 3 is present throughout the cell.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PXK gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for PXK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS,IDA 16135750
GO:0005815 microtubule organizing center IDA --
GO:0005886 plasma membrane ISS,IDA 16135750
GO:0016020 membrane IEA --
GO:0043234 protein complex IEA --
genes like me logo Genes that share ontologies with PXK: view

Pathways & Interactions for PXK Gene

No Data Available

Gene Ontology (GO) - Biological Process for PXK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 NOT protein phosphorylation IEA,NAS 16142408
GO:0006954 inflammatory response IMP 18204446
GO:0032780 negative regulation of ATPase activity IBA --
GO:0042391 regulation of membrane potential IBA --
GO:0043271 negative regulation of ion transport IBA --
genes like me logo Genes that share ontologies with PXK: view

No data available for Pathways by source and SIGNOR curated interactions for PXK Gene

Transcripts for PXK Gene

Unigene Clusters for PXK Gene

PX domain containing serine/threonine kinase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^
SP1: - - - - -
SP2: - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - - -
SP7:
SP8: - - -
SP9: -
SP10: - - - -
SP11:
SP12:

ExUns: 22 ^ 23a · 23b · 23c · 23d · 23e
SP1: -
SP2:
SP3: -
SP4:
SP5: -
SP6: -
SP7:
SP8: -
SP9:
SP10: -
SP11:
SP12:

Relevant External Links for PXK Gene

GeneLoc Exon Structure for
PXK
ECgene alternative splicing isoforms for
PXK

Expression for PXK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PXK Gene

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

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.6).

Protein differential expression in normal tissues from HIPED for PXK Gene

This gene is overexpressed in Frontal cortex (13.1), Monocytes (10.6), Placenta (6.2), and Blymphocyte (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PXK Gene



Protein tissue co-expression partners for PXK Gene

NURSA nuclear receptor signaling pathways regulating expression of PXK Gene:

PXK

SOURCE GeneReport for Unigene cluster for PXK Gene:

Hs.190544

mRNA Expression by UniProt/SwissProt for PXK Gene:

Q7Z7A4-PXK_HUMAN
Tissue specificity: Widely expressed in all tissues examined except in heart. Isoform 1 is expressed in high levels in the brain, skeletal muscle, spleen and testis. Isoform 7 expression has yet to be demonstrated.
genes like me logo Genes that share expression patterns with PXK: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PXK Gene

Orthologs for PXK Gene

This gene was present in the common ancestor of animals.

Orthologs for PXK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PXK 34 35
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia PXK 34 35
  • 92.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PXK 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PXK 34 35
  • 90.72 (n)
rat
(Rattus norvegicus)
Mammalia Pxk 34
  • 88.21 (n)
mouse
(Mus musculus)
Mammalia Pxk 34 16 35
  • 87.2 (n)
oppossum
(Monodelphis domestica)
Mammalia PXK 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves PXK 34 35
  • 76.88 (n)
lizard
(Anolis carolinensis)
Reptilia PXK 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pxk 34
  • 71.59 (n)
zebrafish
(Danio rerio)
Actinopterygii pxk 34 35
  • 68.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8726 34 35
  • 50.79 (n)
Slob 35
  • 10 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005173 34
  • 50.61 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2714 35
  • 50 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13413 34
Species where no ortholog for PXK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PXK Gene

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

Paralogs for PXK Gene

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

No data available for Paralogs for PXK Gene

Variants for PXK Gene

Sequence variations from dbSNP and Humsavar for PXK Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs10587686 -- 58,408,526(+) GACTC(-/TTTT)TTTTT intron-variant
rs10631323 -- 58,418,617(+) AGGCT(-/GTCT)TTTAA intron-variant
rs10662181 -- 58,382,492(+) TTTTT(-/T/TT/TTT/TTTT)AAAGA intron-variant
rs10664662 -- 58,355,148(+) AAAGA(-/GA)AAAAA intron-variant, upstream-variant-2KB
rs10691351 -- 58,391,515(+) AAAAA(-/A)TACTT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4748n100 CNV gain 25217958
esv2337145 CNV deletion 18987734
esv3561933 CNV deletion 23714750
esv3596247 CNV loss 21293372
nsv1001814 CNV gain 25217958
nsv3838 CNV insertion 18451855
nsv528147 CNV gain 19592680

Variation tolerance for PXK Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.72; 89.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PXK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PXK

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

Disorders for PXK Gene

MalaCards: The human disease database

(1) MalaCards diseases for PXK Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
systemic lupus erythematosus
  • lupus nephritis
- elite association - COSMIC cancer census association via MalaCards
Search PXK in MalaCards View complete list of genes associated with diseases

Relevant External Links for PXK

Genetic Association Database (GAD)
PXK
Human Genome Epidemiology (HuGE) Navigator
PXK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PXK
genes like me logo Genes that share disorders with PXK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PXK Gene

Publications for PXK Gene

  1. Characterization of PXK as a protein involved in epidermal growth factor receptor trafficking. (PMID: 20086096) Takeuchi H. … Hirata M. (Mol. Cell. Biol. 2010) 2 3 22 64
  2. MONaKA, a novel modulator of the plasma membrane Na,K-ATPase. (PMID: 16135750) Mao H. … Levitan I.B. (J. Neurosci. 2005) 3 4 22 64
  3. Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients. (PMID: 20881011) Webb R. … Sawalha A.H. (Ann. Rheum. Dis. 2011) 3 46 64
  4. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. (PMID: 20962850) Budarf M.L. … Rioux J.D. (Genes Immun. 2011) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for PXK Gene

Sources for PXK Gene

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