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

Gene ID: 6656, updated on 11-Apr-2024

Summary

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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
mouse all
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Genomic context

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Location:
13q34
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (112067149..112071706)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (111310637..111315193)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Is hypermethylation of SOX1 gene an independent prognostic marker in surgically resected non-small cell lung cancer? Kontic M, et al. J Cancer Res Ther, 2022 Oct-Dec. PMID 36412431
  2. Study of the influence of NGF-β gene overexpression in human mesenchymal stem cells on the expression level of SOX1 and neural pathway genes. Morys J, et al. Mol Biol Rep, 2022 Jun. PMID 35348963
  3. Discordant SOX-1 antibodies results in paraneoplastic Lambert-Eaton syndrome diagnosis by the clinical laboratory. Pozo-Giraldez A, et al. Clin Biochem, 2021 Nov. PMID 34450126
  4. In Silico Identification of SOX1 Post-Translational Modifications Highlights a Shared Protein Motif. Ahmad A, et al. Cells, 2020 Nov 13. PMID 33202879, Free PMC Article
  5. SOX1 promotes differentiation of nasopharyngeal carcinoma cells by activating retinoid metabolic pathway. Lei XX, et al. Cell Death Dis, 2020 May 7. PMID 32382038, Free PMC Article

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Transcriptional Circuitry of NKX2-1 and SOX1 Defines an Unrecognized Lineage Subtype of Small-Cell Lung Cancer.
    Title: Transcriptional Circuitry of NKX2-1 and SOX1 Defines an Unrecognized Lineage Subtype of Small-Cell Lung Cancer.
  2. Is hypermethylation of SOX1 gene an independent prognostic marker in surgically resected non-small cell lung cancer?
    Title: Is hypermethylation of SOX1 gene an independent prognostic marker in surgically resected non-small cell lung cancer?
  3. Study of the influence of NGF-beta gene overexpression in human mesenchymal stem cells on the expression level of SOX1 and neural pathway genes.
    Title: Study of the influence of NGF-β gene overexpression in human mesenchymal stem cells on the expression level of SOX1 and neural pathway genes.
  4. Discordant SOX-1 antibodies results in paraneoplastic Lambert-Eaton syndrome diagnosis by the clinical laboratory.
    Title: Discordant SOX-1 antibodies results in paraneoplastic Lambert-Eaton syndrome diagnosis by the clinical laboratory.
  5. In Silico Identification of SOX1 Post-Translational Modifications Highlights a Shared Protein Motif.
    Title: In Silico Identification of SOX1 Post-Translational Modifications Highlights a Shared Protein Motif.
  6. SOX1 and PAX1 Are Hypermethylated in Cervical Adenocarcinoma and Associated with Better Prognosis.
    Title: SOX1 and PAX1 Are Hypermethylated in Cervical Adenocarcinoma and Associated with Better Prognosis.
  7. SOX1 promotes differentiation of nasopharyngeal carcinoma cells by activating retinoid metabolic pathway.
    Title: SOX1 promotes differentiation of nasopharyngeal carcinoma cells by activating retinoid metabolic pathway.
  8. The methylation levels ofPAX1, SOX1 and ZNF582 genes were all higher in cancer tissues.
    Title: Aberrant DNA methylation of PAX1, SOX1 and ZNF582 genes as potential biomarkers for esophageal squamous cell carcinoma.
  9. a methylation-specific expression gene of cervical adenocarcinoma
    Title: Tumor-suppressor gene SOX1 is a methylation-specific expression gene in cervical adenocarcinoma.
  10. Data show that high levels of SRY-box transcription factor 1 (SOX1) observed in a subset of patients correlate with lower overall survival, and suggest SOX1 as a potential target in the glioma stem cells (GSCs) population in glioblastoma.
    Title: Oncogenic activity of SOX1 in glioblastoma.
Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-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 brain development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin organization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in forebrain neuron development IEA
Inferred from Electronic Annotation
more info
  
involved_in interneuron migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lens morphogenesis in camera-type eye IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of DNA-templated transcription NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of oligodendrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in ventral spinal cord interneuron specification IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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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)

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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.

mRNA and Protein(s)

  1. NM_005986.3 → NP_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:50 → 121
    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_2023_10

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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00570.2 GenPept UniProtKB/Swiss-Prot:O00570

Gene LinkOut

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

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