HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SP1
Sp1 transcription factor
Chromosome 12 Β· 12q13.13
NCBI Gene: 6667Ensembl: ENSG00000185591.11HGNC: HGNC:11205UniProt: P08047
1,341PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Highly Studied
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of hydrogen sulfide biosynthetic processpositive regulation of DNA-templated transcriptiontranscription cis-regulatory region bindingRNA polymerase II transcription regulatory region sequence-specific DNA bindingneurodegenerative diseasesevere acute respiratory syndromeneuroinflammatory disordercolorectal carcinoma
✦AI Summary

SP1 is a zinc finger transcription factor that binds GC-rich motifs to regulate gene expression across diverse biological processes. SP1 serves as both a transcriptional activator and repressor, controlling genes involved in antioxidant defense, metabolic enzymes, and disease-related pathways 1. The protein recognizes specific Sp1 binding sites in target gene promoters and can function cooperatively with other transcription factors like Sp3, often in tissue-specific patterns 2. SP1 regulates critical genes including extracellular superoxide dismutase in lung cells 1, the lactoferrin receptor in intestinal cells 3, and huntingtin in neuronal tissues 4. The factor can interact with other proteins such as c-Jun to enhance transcriptional activation through protein-protein interactions rather than direct DNA binding 5. SP1 activity is modulated by age-related changes, with altered binding patterns contributing to decreased gene expression in aging 6. Disease relevance includes associations with cancer risk through genetic polymorphisms 7 and potential roles in neurodegenerative diseases through huntingtin regulation 4. SP1's widespread regulatory functions make it essential for maintaining cellular homeostasis and responding to physiological changes.

Sources cited
1
SP1 binds to GC-rich promoter elements and regulates extracellular superoxide dismutase expression in lung cells
PMID: 18314536
2
SP1 and Sp3 interact to regulate tissue-specific gene transcription patterns
PMID: 15860659
3
SP1 binding sites are critical for lactoferrin receptor gene transcription in intestinal cells
PMID: 29464457
4
SP1 regulates huntingtin gene expression and may contribute to Huntington's disease pathogenesis
PMID: 22399227
5
SP1 can interact with c-Jun transcription factor to enhance gene expression through protein-protein interactions
PMID: 14518567
6
SP1 binding activity decreases with age, contributing to age-related changes in gene expression
PMID: 8548503
7
SP1 genetic polymorphisms are associated with cancer risk, specifically tongue squamous cell carcinoma
PMID: 31270251
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.54Moderate
severe acute respiratory syndromeOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.37Weak
colorectal carcinomaOpen Targets
0.12Weak
gliomaOpen Targets
0.11Weak
lung cancerOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
glioblastoma multiformeOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
gastric cancerOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.11Weak
cervical cancerOpen Targets
0.10Weak
Miyoshi myopathyOpen Targets
0.10Weak
metabolic syndromeOpen Targets
0.10Weak
esophageal squamous cell carcinomaOpen Targets
0.10Suggestive
acute myeloid leukemiaOpen Targets
0.10Suggestive
triple-negative breast cancerOpen Targets
0.10Suggestive
hypospadiasOpen Targets
0.10Suggestive
posterior cortical atrophyOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
USF1Protein interaction100%STAT3Protein interaction100%HDAC1Protein interaction100%KLF6Protein interaction99%NFYAProtein interaction99%NFYBProtein interaction99%
Tissue Expression6 tissues
Lung
100%
Ovary
87%
Bone Marrow
82%
Brain
66%
Heart
60%
Liver
58%
Gene Interaction Network
Click a node to explore
SP1USF1STAT3HDAC1KLF6NFYANFYB
PROTEIN STRUCTURE
Preparing viewer…
PDB1SP1 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.17Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.09 [0.05–0.17]
RankingsWhere SP1 stands among ~20K protein-coding genes
  • #100of 20,598
    Most Researched1,341 Β· top 1%
  • #289of 17,882
    Most Constrained (LOEUF)0.17 Β· top 5%
Genes detectedSP1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Association of
PMID: 31270251
Biosci Rep Β· 2019
1.00
2
Transcription factors sp1 and sp3 regulate expression of human extracellular superoxide dismutase in lung fibroblasts.
PMID: 18314536
Am J Respir Cell Mol Biol Β· 2008
0.90
3
Regulation of human glucocorticoid receptor gene transcription by Sp1 and p53.
PMID: 15249123
Mol Cell Endocrinol Β· 2004
0.86
4
Cloning and characterization of the human lactoferrin receptor gene promoter.
PMID: 29464457
Biometals Β· 2018
0.80
5
Sp1 and KLF15 regulate basal transcription of the human LRP5 gene.
PMID: 20141633
BMC Genet Β· 2010
0.80