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    SOX3 SRY-box 3 [ Homo sapiens (human) ]

    Gene ID: 6658, updated on 8-Apr-2018
    Official Symbol
    SOX3provided by HGNC
    Official Full Name
    SRY-box 3provided by HGNC
    Primary source
    HGNC:HGNC:11199
    See related
    Ensembl:ENSG00000134595 MIM:313430; Vega:OTTHUMG00000022544
    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
    PHP; GHDX; MRGH; PHPX; SOXB
    Summary
    This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked cognitive disability with growth hormone deficiency. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    Xq27.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (140502987..140505060, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (139585152..139587225, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene embryonic ectoderm development pseudogene Neighboring gene ribosomal protein S17 pseudogene 17 Neighboring gene SOX3 promoter region Neighboring gene uncharacterized LOC105373344 Neighboring gene uncharacterized LOC101928833

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
      Deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
      TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    central nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    face development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hypothalamus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    pituitary gland development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sensory organ development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sex determination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    transcription factor SOX-3
    Names
    SRY (sex determining region Y)-box 3

    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_009387.1 RefSeqGene

      Range
      5001..7074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005634.2NP_005625.2  transcription factor SOX-3

      See identical proteins and their annotated locations for NP_005625.2

      Status: REVIEWED

      Source sequence(s)
      X71135
      Consensus CDS
      CCDS14669.1
      UniProtKB/Swiss-Prot
      P41225
      Related
      ENSP00000359567.2, OTTHUMP00000024166, ENST00000370536.4, OTTHUMT00000058577
      Conserved Domains (2) summary
      cd01388
      Location:138209
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam12336
      Location:208302
      SOXp; SOX transcription factor

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      140502987..140505060 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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