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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SOX1
SRY-box transcription factor 1
Chromosome 13 · 13q34
NCBI Gene: 6656Ensembl: ENSG00000182968.5HGNC: HGNC:11189UniProt: O00570
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindinginterneuron migrationnucleuspreeclampsianervous system diseaseHerpes Zostercomplication
✦AI Summary

SOX1 is a transcriptional activator functioning as a developmental switch in neural differentiation. It maintains neural stem cell identity by suppressing neuronal differentiation through counteraction of proneural proteins 1. SOX1 expression decreases during neural pathway differentiation, with NGF-β overexpression promoting this transition from SOX1+ stem cells to differentiated neural cells 1. In cancer biology, SOX1 plays dual roles. It promotes glioma stem cell proliferation, invasion, and migration due to elevated expression in glioblastoma cells 2. Additionally, SOX1 marks stem-like cell clusters across small cell lung cancer subtypes, appearing in ASCL1+SOX1+ populations 3. Clinically, SOX1 methylation serves as a diagnostic biomarker for cervical neoplasia. SOX1 methylation levels correlate positively with cervical intraepithelial neoplasia severity, with diagnostic odds ratio of 68.95 for cervical cancer detection (AUC 0.92) 4. As part of a PAX1/SOX1 methylation panel, it achieves 77.16% sensitivity and 91.67% specificity for CIN2+ detection, improving triage efficiency for HPV-positive women 5. Disease associations include paraneoplastic brainstem encephalitis, where SOX1 antibodies occur in cancer patients 6, and fibromyalgia syndrome, where anti-SOX1 antibodies correlate with immune activation 7.

Sources cited
1
SOX1 expression decreases during neural differentiation when NGF is overexpressed in mesenchymal stem cells, while markers of differentiated neural cells (SOX2, NES) increase
PMID: 35348963
2
SOX1 promotes glioma stem cell proliferation, invasion, and migration due to high expression in glioblastoma cells
PMID: 33481176
3
SOX1+ stem-like cell clusters (ASCL1+SOX1+) are present across small cell lung cancer subtypes
PMID: 40925909
4
SOX1 methylation has diagnostic odds ratio of 68.95 with AUC of 0.92 for cervical cancer diagnosis, effective for both adenocarcinoma and squamous cell carcinoma
PMID: 40259371
5
PAX1/SOX1 methylation panel achieves 77.16% sensitivity and 91.67% specificity for CIN2+ detection and can triage HPV-positive women
PMID: 38527422
6
SOX1 antibodies detected in one patient with autoimmune brainstem encephalitis associated with cancer
PMID: 39708293
7
Anti-SOX1 antibodies detected in 9 of 68 fibromyalgia patients with DRG binding, supporting immune activation in FMS subgroups
PMID: 39907533
Disease Associationsⓘ20
preeclampsiaOpen Targets
0.33Weak
nervous system diseaseOpen Targets
0.31Weak
complicationOpen Targets
0.31Weak
Herpes ZosterOpen Targets
0.31Weak
esophageal diseaseOpen Targets
0.16Weak
spinal cord injuryOpen Targets
0.16Weak
glomerulonephritisOpen Targets
0.14Weak
epilepsyOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
nasopharyngeal carcinomaOpen Targets
0.10Weak
cancerOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.10Suggestive
oropharynx cancerOpen Targets
0.09Suggestive
cervical cancerOpen Targets
0.08Suggestive
cholangiocarcinomaOpen Targets
0.08Suggestive
atrioventricular blockOpen Targets
0.08Suggestive
joint diseaseOpen Targets
0.08Suggestive
major salivary gland cancerOpen Targets
0.08Suggestive
thrombophiliaOpen Targets
0.08Suggestive
diabetes mellitusOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POU5F1Protein interaction100%KLF4Protein interaction99%PNMA2Protein interaction89%LGI1Protein interaction88%POU3F2Protein interaction88%NEUROG2Protein interaction88%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
SOX1POU5F1KLF4PNMA2LGI1POU3F2NEUROG2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O00570
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.95LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF2.81 [0.58–1.95]
RankingsWhere SOX1 stands among ~20K protein-coding genes
  • #8,376of 20,598
    Most Researched54
  • #17,669of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedSOX1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SOX1 Is a Backup Gene for Brain Neurons and Glioma Stem Cell Protection and Proliferation.
PMID: 33481176
Mol Neurobiol · 2021
1.00
2
Autoimmune brainstem encephalitis: Clinical associations, outcomes, and proposed diagnostic criteria.
PMID: 39708293
Ann Clin Transl Neurol · 2025
0.90
3
PAX1 and SOX1 Gene Methylation as a Detection and Triage Method for Cervical Intraepithelial Neoplasia Diagnosis.
PMID: 38527422
Acta Cytol · 2024
0.80
4
[Value of SOX1 and PAX1 Gene Methylation Detection in Secondary Triage of High-Grade Cervical Lesions].
PMID: 38953256
Zhongguo Yi Xue Ke Xue Yuan Xue Bao · 2024
0.70
5
Autoantibodies in patients with fibromyalgia syndrome.
PMID: 39907533
Pain · 2025
0.60