This gene encodes a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome. [provided by RefSeq, Aug 2013] See more...

Aliases for GPKOW Gene

Aliases for GPKOW Gene

  • G-Patch Domain And KOW Motifs 2 3 5
  • GPATCH5 2 3 4
  • GPATC5 2 3 4
  • T54 2 3 4
  • G-Patch Domain And KOW Motifs-Containing Protein 3 4
  • Protein MOS2 Homolog 3 4
  • Mos2 2 3
  • Spp2 2 3
  • G Patch Domain And KOW Motifs-Containing Protein 3
  • G-Patch Domain-Containing Protein 5 4
  • G Patch Domain Containing 5 2
  • Protein T54 4
  • GPKOW 5

External Ids for GPKOW Gene

Previous GeneCards Identifiers for GPKOW Gene

  • GC0XM047997
  • GC0XM048726
  • GC0XM048857
  • GC0XM048970
  • GC0XM046625

Summaries for GPKOW Gene

Entrez Gene Summary for GPKOW Gene

  • This gene encodes a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome. [provided by RefSeq, Aug 2013]

GeneCards Summary for GPKOW Gene

GPKOW (G-Patch Domain And KOW Motifs) is a Protein Coding gene. Diseases associated with GPKOW include Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence and Mandibulofacial Dysostosis, Guion-Almeida Type. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot Summary for GPKOW Gene

Additional gene information for GPKOW Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPKOW Gene

Genomics for GPKOW Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GPKOW Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPKOW on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPKOW

Top Transcription factor binding sites by QIAGEN in the GPKOW gene promoter:
  • AML1a
  • E47
  • Elk-1
  • GATA-3
  • NF-kappaB
  • NF-kappaB1
  • RelA
  • Tal-1
  • YY1
  • ZID

Genomic Locations for GPKOW Gene

Genomic Locations for GPKOW Gene
chrX:49,113,396-49,124,547
(GRCh38/hg38)
Size:
11,152 bases
Orientation:
Minus strand
chrX:48,969,022-48,980,151
(GRCh37/hg19)
Size:
11,130 bases
Orientation:
Minus strand

Genomic View for GPKOW Gene

Genes around GPKOW on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GPKOW Gene

Proteins for GPKOW Gene

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

    Protein Symbol:
    Q92917-GPKOW_HUMAN
    Recommended name:
    G-patch domain and KOW motifs-containing protein
    Protein Accession:
    Q92917
    Secondary Accessions:
    • Q59EK5
    • Q9BQA8

    Protein attributes for GPKOW Gene

    Size:
    476 amino acids
    Molecular mass:
    52229 Da
    Quaternary structure:
    • Interacts with PRKX (PubMed:16491121). Interacts with DHX16 (PubMed:25296192). Interacts with PRKACB (PubMed:21880142).
    SequenceCaution:
    • Sequence=AAB18640.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for GPKOW Gene

Post-translational modifications for GPKOW Gene

  • Phosphorylation regulates its ability to bind RNA.
  • Ubiquitination at Lys192, Lys299, Lys315, and Lys372
  • Modification sites at PhosphoSitePlus

Other Protein References for GPKOW Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GPKOW Gene

Domains & Families for GPKOW Gene

Protein Domains for GPKOW Gene

InterPro:
Blocks:
  • KOW (Kyprides, Ouzounis, Woese) motif
ProtoNet:

Suggested Antigen Peptide Sequences for GPKOW Gene

GenScript: Design optimal peptide antigens:
  • Protein T54 (GPKOW_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92917

UniProtKB/Swiss-Prot:

GPKOW_HUMAN :
  • Belongs to the MOS2 family.
Family:
  • Belongs to the MOS2 family.
genes like me logo Genes that share domains with GPKOW: view

Function for GPKOW Gene

Molecular function for GPKOW Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein involved in pre-mRNA splicing.

Gene Ontology (GO) - Molecular Function for GPKOW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IMP 25296192
GO:0005515 protein binding IPI 16491121
genes like me logo Genes that share ontologies with GPKOW: view
genes like me logo Genes that share phenotypes with GPKOW: view

Human Phenotype Ontology for GPKOW Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for GPKOW Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPKOW

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for GPKOW Gene

Localization for GPKOW Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPKOW Gene

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 GPKOW gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GPKOW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 21880142
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IDA 25296192
genes like me logo Genes that share ontologies with GPKOW: view

Pathways & Interactions for GPKOW Gene

genes like me logo Genes that share pathways with GPKOW: view

Pathways by source for GPKOW Gene

Gene Ontology (GO) - Biological Process for GPKOW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with GPKOW: view

No data available for SIGNOR curated interactions for GPKOW Gene

Drugs & Compounds for GPKOW Gene

No Compound Related Data Available

Transcripts for GPKOW Gene

mRNA/cDNA for GPKOW Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPKOW

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

No ASD Table

Relevant External Links for GPKOW Gene

GeneLoc Exon Structure for
GPKOW

Expression for GPKOW Gene

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

Protein differential expression in normal tissues from HIPED for GPKOW Gene

This gene is overexpressed in Cervix (11.8), Peripheral blood mononuclear cells (9.5), and Lymph node (7.2).

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



Protein tissue co-expression partners for GPKOW Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPKOW

SOURCE GeneReport for Unigene cluster for GPKOW Gene:

Hs.503666

Evidence on tissue expression from TISSUES for GPKOW Gene

  • Nervous system(4.6)
  • Lung(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with GPKOW: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPKOW Gene

Orthologs for GPKOW Gene

This gene was present in the common ancestor of animals.

Orthologs for GPKOW Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia GPKOW 30 31
  • 87.09 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GPKOW 30 31
  • 86.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gpkow 30
  • 80.59 (n)
Mouse
(Mus musculus)
Mammalia Gpkow 30 17 31
  • 80.23 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 60 (a)
OneToMany
-- 31
  • 56 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia GPKOW 31
  • 45 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GPKOW 31
  • 49 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.11083 30
Zebrafish
(Danio rerio)
Actinopterygii gpkow 30 31
  • 56.8 (n)
OneToOne
mpzf637-1-001655 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG10324 31
  • 19 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea R11A8.2 30 31
  • 41.14 (n)
OneToMany
F53B2.1 31
  • 26 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 32 (a)
OneToOne
Species where no ortholog for GPKOW was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • 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 Vase (Ciona intestinalis)
  • 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 GPKOW Gene

ENSEMBL:
Gene Tree for GPKOW (if available)
TreeFam:
Gene Tree for GPKOW (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPKOW: view image

Paralogs for GPKOW Gene

No data available for Paralogs for GPKOW Gene

Variants for GPKOW Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPKOW Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
710096 Likely Benign: not provided 49,122,469(-) C/T MISSENSE_VARIANT
711049 Likely Benign: not provided 49,122,488(-) C/T SYNONYMOUS_VARIANT
731666 Benign: not provided 49,122,425(-) C/G SYNONYMOUS_VARIANT
769176 Likely Benign: not provided 49,117,080(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GPKOW Gene

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

Variant ID Type Subtype PubMed ID
esv1526582 CNV insertion 17803354
esv32909 CNV gain+loss 17666407
nsv204 OTHER inversion 15895083
nsv528292 CNV gain 19592680
nsv7442 OTHER inversion 18451855

Variation tolerance for GPKOW Gene

Residual Variation Intolerance Score: 78.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPKOW Gene

Human Gene Mutation Database (HGMD)
GPKOW
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPKOW

SNP Genotyping and Copy Number Assay Products

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

Disorders for GPKOW Gene

MalaCards: The human disease database

(4) MalaCards diseases for GPKOW Gene - From: Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GPKOW in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with GPKOW: view

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

Publications for GPKOW Gene

  1. G-patch domain and KOW motifs-containing protein, GPKOW; a nuclear RNA-binding protein regulated by protein kinase A. (PMID: 21880142) Aksaas AK … Skålhegg BS (Journal of molecular signaling 2011) 2 3 4
  2. GPKOW is essential for pre-mRNA splicing in vitro and suppresses splicing defect caused by dominant-negative DHX16 mutation in vivo. (PMID: 25296192) Zang S … Lin RJ (Bioscience reports 2014) 3 4
  3. Dynamic protein-protein interaction wiring of the human spliceosome. (PMID: 22365833) Hegele A … Stelzl U (Molecular cell 2012) 2 3
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  5. Smad6 is a protein kinase X phosphorylation substrate and is required for HL-60 cell differentiation. (PMID: 16491121) Glesne D … Huberman E (Oncogene 2006) 3 4

Products for GPKOW Gene

  • Signalway Proteins for GPKOW

Sources for GPKOW Gene