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STOX1 storkhead box 1 [ Homo sapiens (human) ]

Gene ID: 219736, updated on 2-Mar-2021

Summary

Official Symbol
STOX1provided by HGNC
Official Full Name
storkhead box 1provided by HGNC
Primary source
HGNC:HGNC:23508
See related
Ensembl:ENSG00000165730 MIM:609397
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
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]
Expression
Broad expression in brain (RPKM 2.8), fat (RPKM 2.4) and 21 other tissues See more
Orthologs
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Genomic context

See STOX1 in Genome Data Viewer
Location:
10q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (68827531..68895942)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70587288..70655188)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene tet methylcytosine dioxygenase 1 Neighboring gene RPS3A pseudogene 37 Neighboring gene cell division cycle and apoptosis regulator 1 Neighboring gene small nucleolar RNA, C/D box 98 Neighboring gene RNA, U6 small nuclear 697, pseudogene Neighboring gene RNA, U6 small nuclear 571, pseudogene Neighboring gene DExD-box helicase 50 Neighboring gene DExD-box helicase 21

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
GeneReviews: Not available
Preeclampsia/eclampsia 4
MedGen: C1836255 OMIM: 609404 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cellular response to nitrosative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of G2/M transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cyclin-dependent protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of peptidyl-threonine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitochondrial DNA metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitochondrial membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription from RNA polymerase II promoter in response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
fibrillar center IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
storkhead-box protein 1
Names
winged-helix domain-containing protein

NCBI Reference Sequences (RefSeq)

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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..72921
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130159.3NP_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:112188
    Stork_head; Winged helix Storkhead-box1 domain
  2. NM_001130160.3NP_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:112155
    Stork_head; Winged helix Storkhead-box1 domain
  3. NM_001130161.4NP_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
    Q6ZVD7
    Related
    ENSP00000382121.4, ENST00000399169.8
    Conserved Domains (1) summary
    pfam10264
    Location:112188
    Stork_head; Winged helix Storkhead-box1 domain
  4. NM_152709.5NP_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
    Q6ZVD7
    Related
    ENSP00000298596.6, ENST00000298596.11
    Conserved Domains (1) summary
    pfam10264
    Location:112188
    Stork_head; Winged helix Storkhead-box1 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    68827531..68895942
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539454.2XP_011537756.1  storkhead-box protein 1 isoform X1

    Conserved Domains (1) summary
    pfam10264
    Location:278
    Stork_head; Winged helix Storkhead-box1 domain

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.
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