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    STOX1 storkhead box 1 [ Homo sapiens (human) ]

    Gene ID: 219736, updated on 11-Jun-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STOX1 in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 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
    Compare labs

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 G2/M transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation 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 epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    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 protein kinase B signaling 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 from RNA polymerase II promoter in response to hypoxia IMP
    Inferred from Mutant Phenotype
    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 
    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
     
    located_in 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)

    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..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 109.20210514

    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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