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Aliases for STOX1 Gene

Aliases for STOX1 Gene

  • Storkhead Box 1 2 3 5
  • Winged-Helix Domain-Containing Protein 3 4
  • C10orf24 3 4
  • Chromosome 10 Open Reading Frame 24 2
  • Storkhead-Box Protein 1 3

External Ids for STOX1 Gene

Previous HGNC Symbols for STOX1 Gene

  • C10orf24

Previous GeneCards Identifiers for STOX1 Gene

  • GC10P070258
  • GC10P070587
  • GC10P064588

Summaries for STOX1 Gene

Entrez Gene Summary for STOX1 Gene

  • The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

GeneCards Summary for STOX1 Gene

STOX1 (Storkhead Box 1) is a Protein Coding gene. Diseases associated with STOX1 include Preeclampsia/Eclampsia 4 and Eclampsia. GO annotations related to this gene include RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is STOX2.

UniProtKB/Swiss-Prot for STOX1 Gene

  • Involved in regulating the levels of reactive oxidative species and reactive nitrogen species and in mitochondrial homeostasis in the placenta (PubMed:24738702). Required for regulation of inner ear epithelial cell proliferation via the AKT signaling pathway (By similarity).

  • Isoform A: Involved in cell cycle regulation by binding to the CCNB1 promoter, up-regulating its expression and promoting mitotic entry (PubMed:22253775). Induces phosphorylation of MAPT/tau (PubMed:22995177).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STOX1 Gene

Genomics for STOX1 Gene

Regulatory Elements for STOX1 Gene

Enhancers for STOX1 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
GH10F068870 1.2 Ensembl ENCODE 32.8 +44.2 44154 2.7 PKNOX1 FEZF1 ZNF2 GLIS2 ZNF263 REST TSHZ1 ZNF518A ZNF264 ZNF610 STOX1 DDX50 DDX21 RPL12P8 CCAR1 SIRT1 RNU6-697P MIR1254-1 SLC25A16 GC10M068883
GH10F068720 1.1 ENCODE 31.1 -105.9 -105900 2.9 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 STOX1 KIF1BP DDX50 DDX21 MIR1254-1 CCAR1 ENSG00000195401
GH10F068826 1 ENCODE 33.6 -0.2 -164 1.4 PKNOX1 ZNF133 SIN3A ZNF48 ZNF2 ZNF121 GLIS2 SP3 JUNB TBX21 STOX1 GC10P068800
GH10F068875 1 ENCODE 31.7 +49.8 49832 3.9 PKNOX1 MLX ARID4B DMAP1 ZNF48 SLC30A9 SP5 NFYC MXD4 PPARG STOX1 DDX50 MIR1254-1 CCAR1 KIF1BP PIR49702 PIR61944
GH10F068806 0.8 ENCODE 29.6 -21.7 -21663 0.4 ELF3 ETV1 JUN ARID4B ZNF384 TRIM24 TCF7L2 GATAD2A SMARCE1 CEBPB STOX1 GC10P068800
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STOX1 on UCSC Golden Path with GeneCards custom track

Promoters for STOX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000116312 263 2001 PKNOX1 ZNF133 ZNF48 ZNF2 ZNF121 GLIS2 SP3 JUNB TBX21 SMARCA4

Genomic Location for STOX1 Gene

Chromosome:
10
Start:
68,827,537 bp from pter
End:
68,895,453 bp from pter
Size:
67,917 bases
Orientation:
Plus strand

Genomic View for STOX1 Gene

Genes around STOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STOX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STOX1 Gene

Proteins for STOX1 Gene

  • Protein details for STOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZVD7-STOX1_HUMAN
    Recommended name:
    Storkhead-box protein 1
    Protein Accession:
    Q6ZVD7
    Secondary Accessions:
    • A2A3Q9
    • A5D6Y7
    • B0QZA4
    • B0QZA5
    • B0QZA6
    • Q4F8Q6
    • Q5I946
    • Q5I947
    • Q5I948
    • Q5VX38
    • Q5VX39
    • Q6ZRY3
    • Q96LR3
    • Q96LS0

    Protein attributes for STOX1 Gene

    Size:
    989 amino acids
    Molecular mass:
    110962 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH63627.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB71600.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB71607.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC85925.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC87173.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for STOX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STOX1 Gene

Post-translational modifications for STOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STOX1 Gene

No data available for DME Specific Peptides for STOX1 Gene

Domains & Families for STOX1 Gene

Protein Domains for STOX1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for STOX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with STOX1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for STOX1 Gene

Function for STOX1 Gene

Molecular function for STOX1 Gene

UniProtKB/Swiss-Prot Function:
Involved in regulating the levels of reactive oxidative species and reactive nitrogen species and in mitochondrial homeostasis in the placenta (PubMed:24738702). Required for regulation of inner ear epithelial cell proliferation via the AKT signaling pathway (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform A: Involved in cell cycle regulation by binding to the CCNB1 promoter, up-regulating its expression and promoting mitotic entry (PubMed:22253775). Induces phosphorylation of MAPT/tau (PubMed:22995177).

Gene Ontology (GO) - Molecular Function for STOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 22253775
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with STOX1: view

Phenotypes for STOX1 Gene

genes like me logo Genes that share phenotypes with STOX1: view

Human Phenotype Ontology for STOX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for STOX1 Gene

miRTarBase miRNAs that target STOX1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for STOX1 Gene

Localization for STOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STOX1 Gene

Isoform A: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=In epithelial cells, diffusely expressed in the cytoplasm, particularly in peri-membrane cortical regions (By similarity). Concentrated at centrosomes during metaphase (PubMed:22253775). {ECO:0000250 UniProtKB:B2RQL2, ECO:0000269 PubMed:22253775}.
Isoform B: Nucleus.
Isoform C: Nucleus, nucleolus.

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 STOX1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 2
extracellular 1

Gene Ontology (GO) - Cellular Components for STOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 22253775
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA,IDA 22253775
GO:0005813 centrosome IDA 22253775
genes like me logo Genes that share ontologies with STOX1: view

Pathways & Interactions for STOX1 Gene

SuperPathways for STOX1 Gene

No Data Available

Interacting Proteins for STOX1 Gene

Gene Ontology (GO) - Biological Process for STOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007049 cell cycle IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0008284 positive regulation of cell proliferation IMP 22253775
genes like me logo Genes that share ontologies with STOX1: view

No data available for Pathways by source and SIGNOR curated interactions for STOX1 Gene

Transcripts for STOX1 Gene

Unigene Clusters for STOX1 Gene

Storkhead box 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for STOX1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6
SP1: -
SP2: -
SP3:
SP4: -
SP5: - -

Relevant External Links for STOX1 Gene

GeneLoc Exon Structure for
STOX1
ECgene alternative splicing isoforms for
STOX1

Expression for STOX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STOX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STOX1 Gene

This gene is overexpressed in Brain - Amygdala (x5.2), Brain - Nucleus accumbens (basal ganglia) (x4.4), and Brain - Caudate (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for STOX1 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for STOX1 Gene



Protein tissue co-expression partners for STOX1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STOX1 Gene:

STOX1

SOURCE GeneReport for Unigene cluster for STOX1 Gene:

Hs.37636

mRNA Expression by UniProt/SwissProt for STOX1 Gene:

Q6ZVD7-STOX1_HUMAN
Tissue specificity: Expressed in placenta, including the invasive extravillus trophoblast cells.
genes like me logo Genes that share expression patterns with STOX1: view

Primer Products

Orthologs for STOX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for STOX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STOX1 34 35
  • 99.39 (n)
cow
(Bos Taurus)
Mammalia STOX1 34 35
  • 83.93 (n)
dog
(Canis familiaris)
Mammalia STOX1 34 35
  • 82.45 (n)
rat
(Rattus norvegicus)
Mammalia Stox1 34
  • 71.41 (n)
mouse
(Mus musculus)
Mammalia Stox1 34 16 35
  • 71.22 (n)
oppossum
(Monodelphis domestica)
Mammalia STOX1 35
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STOX1 35
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves STOX1 34 35
  • 53.6 (n)
lizard
(Anolis carolinensis)
Reptilia STOX1 35
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stox1 34
  • 54.94 (n)
zebrafish
(Danio rerio)
Actinopterygii stox1 34 35
  • 50.62 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta ko 35
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ham-1 35
  • 21 (a)
OneToMany
Species where no ortholog for STOX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 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 STOX1 Gene

ENSEMBL:
Gene Tree for STOX1 (if available)
TreeFam:
Gene Tree for STOX1 (if available)

Paralogs for STOX1 Gene

Paralogs for STOX1 Gene

genes like me logo Genes that share paralogs with STOX1: view

Variants for STOX1 Gene

Sequence variations from dbSNP and Humsavar for STOX1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs41278532 Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404] 68,886,270(+) CCTAA(A/T)TTCAG intron-variant, reference, missense
rs556362193 Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404] 68,827,676(+) GTGCC(C/G)GCTGG upstream-variant-2KB, reference, missense
rs10509305 Pathogenic 68,885,620(+) TATGA(A/C)GTGTA intron-variant, reference, missense
rs1341667 other 68,882,104(-) TGGGT(A/G)ATGTT reference, missense
rs1007042 -- 68,857,217(-) TCATC(A/C)TACCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STOX1 Gene

Variant ID Type Subtype PubMed ID
nsv8685 CNV loss 18304495
nsv831907 CNV gain 17160897
nsv818773 CNV loss 17921354
nsv551450 CNV gain 21841781
nsv551448 CNV loss 21841781
nsv551442 CNV loss 21841781
nsv516725 CNV loss 19592680
nsv442191 CNV loss 18776908
nsv437688 CNV loss 16327808
nsv1161974 CNV duplication 26073780
nsv1069489 CNV deletion 25765185
nsv1047983 CNV gain 25217958
nsv1045343 CNV loss 25217958
esv3623730 CNV loss 21293372
esv3578967 CNV loss 25503493
esv3546466 CNV deletion 23714750
esv3376619 CNV insertion 20981092
esv2762873 CNV loss 21179565
esv2759764 CNV loss 17122850
esv2738073 CNV deletion 23290073
esv2738062 CNV deletion 23290073
esv2590445 CNV deletion 19546169
esv25403 CNV loss 19812545
esv22950 CNV loss 19812545
esv1719721 CNV deletion 17803354
esv1165433 CNV deletion 17803354
dgv473n106 CNV deletion 24896259
dgv151e199 CNV deletion 23128226
dgv1252n54 CNV loss 21841781
dgv1251n54 CNV gain+loss 21841781
dgv1250n54 CNV gain 21841781
dgv1249n54 CNV loss 21841781
dgv1248n54 CNV gain 21841781

Variation tolerance for STOX1 Gene

Residual Variation Intolerance Score: 71.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.79; 66.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STOX1 Gene

Human Gene Mutation Database (HGMD)
STOX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STOX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STOX1 Gene

Disorders for STOX1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for STOX1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
preeclampsia/eclampsia 4
  • gestational proteinuric hypertension
eclampsia
  • eclampsia in puerperium
preeclampsia/eclampsia 1
  • preeclampsia
- elite association - COSMIC cancer census association via MalaCards
Search STOX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STOX1_HUMAN
  • Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404]: A hypertensive disorder of pregnancy characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks gestation with clinically relevant proteinuria. It impacts 2 individuals, the mother and her child, both of whom can be severely affected. Preeclampsia is one of the causes of maternal mortality and morbidity worldwide. {ECO:0000269 PubMed:15806103}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for STOX1

Genetic Association Database (GAD)
STOX1
Human Genome Epidemiology (HuGE) Navigator
STOX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STOX1
genes like me logo Genes that share disorders with STOX1: view

No data available for Genatlas for STOX1 Gene

Publications for STOX1 Gene

  1. Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family. (PMID: 15806103) van Dijk M. … Oudejans C.B.M. (Nat. Genet. 2005) 3 4 22 64
  2. Nitroso-redox balance and mitochondrial homeostasis are regulated by STOX1, a pre-eclampsia-associated gene. (PMID: 24738702) Doridot L. … Vaiman D. (Antioxid. Redox Signal. 2014) 3 4 64
  3. Transcription factor STOX1A promotes mitotic entry by binding to the CCNB1 promotor. (PMID: 22253775) Abel D.v. … Oudejans C.B. (PLoS ONE 2012) 3 4 64
  4. STOX1A induces phosphorylation of tau proteins at epitopes hyperphosphorylated in Alzheimer's disease. (PMID: 22995177) van Abel D. … Oudejans C.B. (Neurosci. Lett. 2012) 3 4 64
  5. Evaluation of STOX1 as a preeclampsia candidate gene in a population-wide sample. (PMID: 17290274) Kivinen K. … Kere J. (Eur. J. Hum. Genet. 2007) 3 46 64

Products for STOX1 Gene

Sources for STOX1 Gene

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