Human Gene STOX1 (ENST00000298596.11) from GENCODE V44
Description: Homo sapiens storkhead box 1 (STOX1), transcript variant 1, mRNA. (from RefSeq NM_152709) RefSeq Summary (NM_152709): 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]. Gencode Transcript: ENST00000298596.11 Gencode Gene: ENSG00000165730.16 Transcript (Including UTRs) Position: hg38 chr10:68,827,531-68,893,060 Size: 65,530 Total Exon Count: 4 Strand: + Coding Region Position: hg38 chr10:68,827,624-68,892,736 Size: 65,113 Coding Exon Count: 4
ID:STOX1_HUMAN DESCRIPTION: RecName: Full=Storkhead-box protein 1; AltName: Full=Winged-helix domain-containing protein; SUBUNIT: Binds DNA (By similarity). SUBCELLULAR LOCATION: Isoform A: Cytoplasm. Nucleus. Note=Either found in the cytoplasm or in the nucleus. Nuclear expression of isoform A seems to be restricted to polyploid trophoblast cells. SUBCELLULAR LOCATION: Isoform B: Nucleus. SUBCELLULAR LOCATION: Isoform C: Nucleus, nucleolus. DISEASE: Defects in STOX1 are the cause of pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404]; also known as gestational proteinuric hypertension. Preeclampsia is a pregnancy-associated disease with maternal symptoms but placental origin. Unlike most other human disorders, it impacts 2 individuals, the mother and her child, both of whom can be severely affected. The pathological mechanism of PEE4 involves the loss of function of STOX1 in the placenta. SEQUENCE CAUTION: Sequence=AAH63627.1; Type=Erroneous initiation; Sequence=BAB71600.1; Type=Erroneous initiation; Sequence=BAB71607.1; Type=Erroneous initiation; Sequence=BAC85925.1; Type=Erroneous initiation; Sequence=BAC87173.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6ZVD7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0003677 DNA binding GO:0005515 protein binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007049 cell cycle GO:0008284 positive regulation of cell proliferation GO:0010468 regulation of gene expression GO:0010628 positive regulation of gene expression GO:0010629 negative regulation of gene expression GO:0010800 positive regulation of peptidyl-threonine phosphorylation GO:0010821 regulation of mitochondrion organization GO:0010971 positive regulation of G2/M transition of mitotic cell cycle GO:0033138 positive regulation of peptidyl-serine phosphorylation GO:0045787 positive regulation of cell cycle GO:0048839 inner ear development GO:0050679 positive regulation of epithelial cell proliferation GO:0051301 cell division GO:0051881 regulation of mitochondrial membrane potential GO:0051897 positive regulation of protein kinase B signaling GO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0071500 cellular response to nitrosative stress GO:1901858 regulation of mitochondrial DNA metabolic process GO:1902882 regulation of response to oxidative stress GO:1904031 positive regulation of cyclin-dependent protein kinase activity GO:1904120 positive regulation of otic vesicle morphogenesis
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