SP1 Transcription Factor
A master regulator of gene expression involved in cell growth, differentiation, and disease
Gene Information Card
| Symbol | SP1 |
|---|---|
| Full Name | Sp1 transcription factor |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 6667 ncbi.nlm.nih.gov/gene/6667 |
| Ensembl ID | ENSG00000185591 |
| UniProt ID | P08047 |
| OMIM ID | 189906 |
| HGNC ID | 11205 |
| Aliases | Sp1, Sp1-1, Sp1-2, Sp1-3, Sp1-4 |
Description
SP1 (Sp1 transcription factor) is a zinc finger transcription factor that binds to GC-rich motifs in the promoters of many genes. It regulates a wide array of cellular processes including cell cycle, apoptosis, differentiation, and angiogenesis. SP1 is ubiquitously expressed and plays a critical role in both normal development and disease, particularly in cancer where it can act as an oncogene or tumor suppressor depending on context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | SP1 overexpression drives proliferation and metastasis by activating oncogenes (e.g., VEGF, EGFR) | PMID: 23434555 |
| Diabetes | SP1 regulates insulin and glucose metabolism genes; altered activity contributes to diabetic complications | PMID: 21576520 |
| Neurodegenerative disorders | SP1 modulates expression of genes involved in neuronal survival and amyloid processing | PMID: 25634567 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Lung | 10.1 | Medium |
| Kidney | 9.8 | Low |
| Pancreas | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| HEK293 | 14.2 | Embryonic kidney cells |
| A549 | 16.1 | Lung cancer cell line |
| MCF7 | 12.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A | Missense | <0.1% | Unknown functional effect |
| c.567_568insC | Frameshift | <0.1% | Loss of function |
| c.890C>T | Nonsense | <0.1% | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein lacking DNA-binding domain.
Gain of Function (GOF)
Not well documented; overexpression is more common than activating mutations.
Dominant Negative (DN)
Rare; some missense variants may interfere with wild-type SP1 binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• p53 signaling pathway (KEGG: hsa04115)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• MAPK signaling pathway (KEGG: hsa04010)
• TGF-beta signaling pathway (KEGG: hsa04350)
• VEGF signaling pathway (KEGG: hsa04370)
Protein Summary
SP1 is a 785-amino acid protein with three C2H2-type zinc fingers that mediate sequence-specific DNA binding to GC boxes. It contains multiple transactivation domains and is post-translationally modified by phosphorylation, acetylation, and glycosylation, which modulate its activity. SP1 interacts with numerous cofactors and is essential for the expression of housekeeping genes and tissue-specific genes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SP1 Knockout HEK293 Cell Line | EDJ-KQ407 | Human | 6667 | Details Get a Quote |
| SP110 Knockout HEK293 Cell Line | EDJ-KQ4967 | Human | 3431 | Details Get a Quote |
| SP100 Knockout HEK293 Cell Line | EDJ-KQ5833 | Human | 6672 | Details Get a Quote |
| SP140 Knockout HEK293 Cell Line | EDJ-KQ7361 | Human | 11262 | Details Get a Quote |
| SP140L Knockout HEK293 Cell Line | EDJ-KQ10541 | Human | 93349 | Details Get a Quote |
| SP1 Knockout HCT 116 Cell Line | EDJ-KQ17990 | Human | 6667 | Details Get a Quote |
| SP100 Knockout A-549 Cell Line | EDJ-KQ28018 | Human | 6672 | Details Get a Quote |
| SP1 Knockout A-549 Cell Line | EDJ-KQ18661 | Human | 6667 | Details Get a Quote |
| SP1 Knockout HeLa Cell Line | EDJ-KQ18662 | Human | 6667 | Details Get a Quote |
| SP110 Knockout A-549 Cell Line | EDJ-KQ27847 | Human | 3431 | Details Get a Quote |
| SP110 Knockout HCT 116 Cell Line | EDJ-KQ27848 | Human | 3431 | Details Get a Quote |
| SP110 Knockout HeLa Cell Line | EDJ-KQ27849 | Human | 3431 | Details Get a Quote |
| SP100 Knockout HCT 116 Cell Line | EDJ-KQ29278 | Human | 6672 | Details Get a Quote |
| SP100 Knockout HeLa Cell Line | EDJ-KQ29279 | Human | 6672 | Details Get a Quote |
| SP140 Knockout HCT 116 Cell Line | EDJ-KQ32476 | Human | 11262 | Details Get a Quote |
