GeneID: 228
Names
| Common Name: | SP1 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 12 (NC_000012.12) | Locus: | NG_030361.1 (SP1) |
| HUGO Symbol: | SP1 | Full Name: | Sp1 transcription factor |
| Exons: | 6 | Introns: | 5 |
Description:
The Sp1 gene encodes a zinc-finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. There are several potential Sp1 binding sites in the γ-globin gene promoter, while mutations at these sites have been shown to enhance Sp1 binding and, thereby, Sp1-dependent promoter activity, allowing high level expression of the γ-globin genes. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. The R218Q variant of Sp1 has been associated with elevated HbF in β-thalassaemia patients.
Synonyms: N/A
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Gumucio DL, Rood KL, Blanchard-McQuate KL, Gray TA, Saulino A, Collins FS, Interaction of Sp1 with the human gamma globin promoter: binding and transactivation of normal and mutant promoters., Blood , 78(7), 1853-63, 1991
- Jiang Z, Luo HY, Farrell JJ, Zhang Z, Schulz VP, Albarawi D, Steinberg MH, Al-Allawi NA, Gallagher PG, Forget BG, Chui DH, A variant Sp1 (R218Q) transcription factor might enhance HbF expression in β(0) -thalassaemia homozygotes., Br. J. Haematol. , 2017