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    SOX1 SRY-box transcription factor 1 [ Homo sapiens (human) ]

    Gene ID: 6656, updated on 4-Jan-2025

    Summary

    Official Symbol
    SOX1provided by HGNC
    Official Full Name
    SRY-box transcription factor 1provided by HGNC
    Primary source
    HGNC:HGNC:11189
    See related
    Ensembl:ENSG00000182968 MIM:602148; AllianceGenome:HGNC:11189
    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
    Summary
    This intronless 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 activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008]
    Orthologs
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    Genomic context

    See SOX1 in Genome Data Viewer
    Location:
    13q34
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (112067149..112071706)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (111310637..111315193)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (112721463..112726020)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene SOX1 overlapping transcript Neighboring gene uncharacterized LOC105378193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:112682419-112682919 Neighboring gene small nucleolar RNA SNORD44 Neighboring gene MPRA-validated peak2105 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:112710313-112711042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:112727858-112728638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:112728639-112729419 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:112757992-112758611 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:112760473-112761092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:112761713-112762331 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:112766326-112767525 Neighboring gene long intergenic non-protein coding RNA 404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:112805199-112805774 Neighboring gene uncharacterized LOC100506016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:112813701-112814406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:112814407-112815111

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (14 hits/1277 screens)

    EBI GWAS Catalog

    Description
    Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in brain development  
    involved_in cellular response to leukemia inhibitory factor  
    involved_in chromatin organization PubMed 
    involved_in forebrain neuron development  
    involved_in interneuron migration  
    involved_in lens morphogenesis in camera-type eye  
    involved_in negative regulation of transcription by RNA polymerase II  
    involved_in negative regulation of transcription by RNA polymerase II  
    involved_in neuron differentiation  
    involved_in positive regulation of transcription by RNA polymerase II  
    involved_in regulation of DNA-templated transcription PubMed 
    involved_in regulation of oligodendrocyte differentiation  
    involved_in ventral spinal cord interneuron specification  
    Component Evidence Code Pubs
    located_in chromatin  
    is_active_in nucleus  
    located_in nucleus PubMed 

    General protein information

    Preferred Names
    transcription factor SOX-1
    Names
    SRY (sex determining region Y)-box 1
    SRY-box 1
    SRY-related HMG-box gene 1

    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.

    mRNA and Protein(s)

    1. NM_005986.3NP_005977.2  transcription factor SOX-1

      See identical proteins and their annotated locations for NP_005977.2

      Status: REVIEWED

      Source sequence(s)
      AL138691
      Consensus CDS
      CCDS9523.1
      UniProtKB/Swiss-Prot
      O00570, Q5W0Q1
      Related
      ENSP00000330218.1, ENST00000330949.3
      Conserved Domains (1) summary
      cd01388
      Location:50121
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      112067149..112071706
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      111310637..111315193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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