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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
  • SLOB 3

External Ids for PXK Gene

Previous GeneCards Identifiers for PXK Gene

  • GC03P058173
  • GC03P058275
  • GC03P058293
  • GC03P058318

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. Gene Ontology (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.

Additional gene information for PXK Gene

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

Genomics for PXK Gene

GeneHancer (GH) Regulatory Elements for PXK Gene

Promoters and enhancers for PXK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I058332 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 560 +1.6 1579 4.6 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF766 CBX5 ZNF416 ZNF207 PXK DENND6A FLNB-AS1 FLNB KCTD6 RPP14 PDE12 HTD2 FAM107A ABHD6
GH03I058382 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 42.3 +53.5 53519 6.9 NCOA3 TAF1 JUN MAX RAD21 ZNF664 CTBP1 ZNF316 GATA3 POLR2A PXK RPP14 FAM107A HTD2 ACOX2 ENSG00000243384 PDHB FLNB-AS1 ENSG00000275607 ENSG00000272182
GH03I058490 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 22.4 +159.3 159254 2.4 PKNOX1 ARNT ZFP64 SIN3A DMAP1 ZNF48 GLIS2 ZNF143 RUNX3 DEK ENSG00000272360 KCTD6 PXK ACOX2 RPL27P9
GH03I058469 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 22.3 +138.7 138745 3.4 PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 SIN3A FEZF1 ZNF2 YY1 SLC30A9 RPP14 PXK PDHB KCTD6 ACOX2 HTD2 FAM107A ENSG00000243384 ENSG00000272182 ENSG00000272360
GH03I058422 Enhancer 0.7 ENCODE dbSUPER 40.9 +89.9 89947 1.3 CTCF ZNF654 POLR2A SMC3 RAD21 TEAD3 PXK RPP14 ACOX2 ENSG00000272182 ENSG00000275607
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PXK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PXK gene promoter:

Genomic Locations for PXK Gene

Genomic Locations for PXK Gene
chr3:58,332,880-58,426,127
(GRCh38/hg38)
Size:
93,248 bases
Orientation:
Plus strand
chr3:58,318,607-58,411,748
(GRCh37/hg19)

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 Lys406
  • Modification sites at PhosphoSitePlus

Other Protein References for PXK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PXK Gene

Domains & Families for PXK Gene

Gene Families for PXK Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

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.
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.

Phenotypes From GWAS Catalog for PXK Gene

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 NAS,IEA 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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PXK

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Microtubule organizing center (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PXK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS 16135750
GO:0005815 microtubule organizing center IDA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA,ISS 16135750
GO:0016020 membrane 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 NAS,IEA 16142408
GO:0006954 inflammatory response IMP 18204446
GO:0050804 modulation of chemical synaptic transmission ISS --
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

Drugs & Compounds for PXK Gene

No Compound Related Data Available

Transcripts for PXK Gene

Unigene Clusters for PXK Gene

PX domain containing serine/threonine kinase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PXK

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 CGAP 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.

Evidence on tissue expression from TISSUES for PXK Gene

  • Nervous system(4.6)
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 and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia PXK 33 34
  • 92.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PXK 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PXK 33 34
  • 90.72 (n)
rat
(Rattus norvegicus)
Mammalia Pxk 33
  • 88.21 (n)
mouse
(Mus musculus)
Mammalia Pxk 33 16 34
  • 87.2 (n)
oppossum
(Monodelphis domestica)
Mammalia PXK 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves PXK 33 34
  • 76.88 (n)
lizard
(Anolis carolinensis)
Reptilia PXK 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pxk 33
  • 71.59 (n)
zebrafish
(Danio rerio)
Actinopterygii pxk 33 34
  • 68.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8726 33 34
  • 50.79 (n)
Slob 34
  • 10 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005173 33
  • 50.61 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2714 34
  • 50 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13413 33
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 Variation AA Info Type
rs1000008204 -- 58,334,098(+) C/G intron_variant
rs1000016734 -- 58,382,622(+) A/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000024547 -- 58,425,060(+) T/G 3_prime_UTR_variant, non_coding_transcript_variant
rs1000050489 -- 58,402,029(+) C/G intron_variant
rs1000107305 -- 58,384,052(+) G/A 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)

Additional Variant Information for PXK Gene

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

SNP Genotyping and Copy Number Assay Products

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
  • sle
- elite association - COSMIC cancer census association via MalaCards
Search PXK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PXK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Molecular and cellular biology 2010) 2 3 22 58
  2. MONaKA, a novel modulator of the plasma membrane Na,K-ATPase. (PMID: 16135750) Mao H … Levitan IB (The Journal of neuroscience : the official journal of the Society for Neuroscience 2005) 3 4 22 58
  3. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. (PMID: 20962850) Budarf ML … Rioux JD (Genes and immunity 2011) 3 44 58
  4. 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 AH (Annals of the rheumatic diseases 2011) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for PXK Gene

  • Addgene plasmids for PXK

Sources for PXK Gene

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