U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

STOX1 storkhead box 1 [ Homo sapiens (human) ]

Gene ID: 219736, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
STOX1provided by HGNC
Official Full Name
storkhead box 1provided by HGNC
Primary source
HGNC:HGNC:23508
See related
Ensembl:ENSG00000165730 MIM:609397; AllianceGenome:HGNC:23508
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C10orf24
Summary
Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including positive regulation of G2/M transition of mitotic cell cycle; positive regulation of protein phosphorylation; and regulation of gene expression. Located in centrosome; cytosol; and nuclear lumen. Implicated in pre-eclampsia. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 2.8), fat (RPKM 2.4) and 21 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See STOX1 in Genome Data Viewer
Location:
10q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (68827531..68895432)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (69696680..69764246)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70587288..70655188)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902592 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2421 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16857 Neighboring gene cell division cycle and apoptosis regulator 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16866 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16874 Neighboring gene small nucleolar RNA, C/D box 98 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16884 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16893 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16897 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16901 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16907 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2424 Neighboring gene RNA, U6 small nuclear 697, pseudogene Neighboring gene MPRA-validated peak1002 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr10:70637959-70638530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3471 Neighboring gene RNA, U6 small nuclear 571, pseudogene Neighboring gene DExD-box helicase 50 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3472 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:70715903-70716684 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70716685-70717465 Neighboring gene DExD-box helicase 21

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Modeling Preeclampsia In Vitro: Polymorphic Variants of STOX1-A/B Genes Can Downregulate CD24 in Trophoblast Cell Lines. Sammar M, et al. Int J Mol Sci, 2022 Dec 14. PMID 36555567, Free PMC Article
  2. STOX1 promotor region -922 T > C polymorphism is associated with Early-Onset preeclampsia. Akin S, et al. J Obstet Gynaecol, 2022 Nov. PMID 36369889
  3. Functional Evaluation of STOX1 (STORKHEAD-BOX PROTEIN 1) in Placentation, Preeclampsia, and Preterm Birth. Dunk CE, et al. Hypertension, 2021 Feb. PMID 33356399
  4. STOX1 gene Y153H polymorphism is associated with early-onset preeclampsia in Turkish population. Pinarbasi E, et al. Gene, 2020 Sep 5. PMID 32534058
  5. Investigation of the STOX1 polymorphism on lumbar disc herniation. Yang X, et al. Mol Genet Genomic Med, 2020 Jan. PMID 31724315, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. STOX1 promotor region -922 T > C polymorphism is associated with Early-Onset preeclampsia.
    Title: STOX1 promotor region -922 T > C polymorphism is associated with Early-Onset preeclampsia.
  2. Modeling Preeclampsia In Vitro: Polymorphic Variants of STOX1-A/B Genes Can Downregulate CD24 in Trophoblast Cell Lines.
    Title: Modeling Preeclampsia In Vitro: Polymorphic Variants of STOX1-A/B Genes Can Downregulate CD24 in Trophoblast Cell Lines.
  3. Functional Evaluation of STOX1 (STORKHEAD-BOX PROTEIN 1) in Placentation, Preeclampsia, and Preterm Birth.
    Title: Functional Evaluation of STOX1 (STORKHEAD-BOX PROTEIN 1) in Placentation, Preeclampsia, and Preterm Birth.
  4. Investigation of the STOX1 polymorphism on lumbar disc herniation.
    Title: Investigation of the STOX1 polymorphism on lumbar disc herniation.
  5. circ-ZUFSP regulates trophoblasts migration and invasion through sponging miR-203 to regulate STOX1 expression.
    Title: circ-ZUFSP regulates trophoblasts migration and invasion through sponging miR-203 to regulate STOX1 expression.
  6. STOX1 gene single nucleotide polymorphism is associated with early-onset preeclampsia.
    Title: STOX1 gene Y153H polymorphism is associated with early-onset preeclampsia in Turkish population.
  7. STOX1 protein in early onset group, late onset group and control group were 0.78+/-0.04,0.59+/-0.020 and 0.54+/-0.018 respectively, which is higher in early onset group than that in late onset group(P<0.05)
    Title: [Correlation between the expression of STOX1 in placenta of patients with early onset preeclampsia].
  8. expressions of STOX1 is gradually increasing along with the normal pregnancy progression
    Title: [Expression and significance of STOX1 in villi and placenta at different stages of normal gestation].
  9. The STOX1 mice could help to better understand the endothelial dysfunction in the context of preeclampsia, and guide the search for efficient therapies able to protect the maternal endothelium during the disease and its aftermath.
    Title: Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia.
  10. Transcription factor STOX1A and its target gene, CNTNAP2, are potentially involved in the etiology of Alzheimer's disease.
    Title: Direct downregulation of CNTNAP2 by STOX1A is associated with Alzheimer's disease.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Preeclampsia/eclampsia 4
MedGen: C1836255 OMIM: 609404 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to nitrosative stress IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in inner ear development IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of G1/S transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of G2/M transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cyclin-dependent protein kinase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of otic vesicle morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of peptidyl-threonine phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of mitochondrial DNA metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of mitochondrial membrane potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
storkhead-box protein 1
Names
winged-helix domain-containing protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012975.2 RefSeqGene

    Range
    4995..70524
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130159.3 → NP_001123631.1  storkhead-box protein 1 isoform b

    See identical proteins and their annotated locations for NP_001123631.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate donor splice site at the penultimate coding exon compared to variant 1, which results in a frame-shift, and a shorter isoform (b) with a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AL391539, AY842015, BC140011
    Consensus CDS
    CCDS44417.1
    UniProtKB/Swiss-Prot
    Q6ZVD7
    Related
    ENSP00000382118.4, ENST00000399165.8
    Conserved Domains (1) summary
    pfam10264
    Location:112 → 188
    Stork_head; Winged helix Storkhead-box1 domain

  2. NM_001130160.3 → NP_001123632.1  storkhead-box protein 1 isoform c

    See identical proteins and their annotated locations for NP_001123632.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) is missing a coding exon at the 3' end compared to variant 1, which results in a frame-shift, and a shorter isoform (c) with a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AL391539, AY842016, BC140011
    Consensus CDS
    CCDS44416.1
    UniProtKB/Swiss-Prot
    Q6ZVD7
    Related
    ENSP00000382115.2, ENST00000399162.2
    Conserved Domains (1) summary
    pfam10264
    Location:112 → 155
    Stork_head; Winged helix Storkhead-box1 domain

  3. NM_001130161.4 → NP_001123633.1  storkhead-box protein 1 isoform a

    See identical proteins and their annotated locations for NP_001123633.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AL391539, AY842017, BC140011
    Consensus CDS
    CCDS41535.1
    UniProtKB/Swiss-Prot
    A2A3Q9, A5D6Y7, B0QZA4, B0QZA5, B0QZA6, Q4F8Q6, Q5I946, Q5I947, Q5I948, Q5VX38, Q5VX39, Q6ZRY3, Q6ZVD7, Q96LR3, Q96LS0
    UniProtKB/TrEMBL
    A0A2R8Y5I4
    Related
    ENSP00000382121.4, ENST00000399169.8
    Conserved Domains (1) summary
    pfam10264
    Location:112 → 188
    Stork_head; Winged helix Storkhead-box1 domain

  4. NM_152709.5 → NP_689922.3  storkhead-box protein 1 isoform a

    See identical proteins and their annotated locations for NP_689922.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AL391539, AY842014, BC140011
    Consensus CDS
    CCDS41535.1
    UniProtKB/Swiss-Prot
    A2A3Q9, A5D6Y7, B0QZA4, B0QZA5, B0QZA6, Q4F8Q6, Q5I946, Q5I947, Q5I948, Q5VX38, Q5VX39, Q6ZRY3, Q6ZVD7, Q96LR3, Q96LS0
    UniProtKB/TrEMBL
    A0A2R8Y5I4
    Related
    ENSP00000298596.6, ENST00000298596.11
    Conserved Domains (1) summary
    pfam10264
    Location:112 → 188
    Stork_head; Winged helix Storkhead-box1 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    68827531..68895432
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539454.3 → XP_011537756.1  storkhead-box protein 1 isoform X1

    Conserved Domains (1) summary
    pfam10264
    Location:2 → 78
    Stork_head; Winged helix Storkhead-box1 domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    69696680..69764246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001130162.2: Suppressed sequence

    Description
    NM_001130162.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZVD7.2 GenPept UniProtKB/Swiss-Prot:Q6ZVD7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Other Literature Sources
Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous