SP7 Gene Summary [Human]
This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]
Details
| Type | Protein Coding |
| Official Symbol | SP7 |
| Official Name | Sp7 transcription factor [Source:HGNC Symbol;Acc:HGNC:17321] |
| Ensembl ID | ENSG00000170374 |
| Bio databases IDs | |
| Aliases | Sp7 transcription factor |
| Synonyms | 6430578P22Rik, C22, OI11, OI12, Osterix, OSX, Sp7 transcription factor, Sp7 transcription factor 7 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SP7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc finger, C2H2 type
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- nucleic acid binding
- transcription activation domain
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- Zinc-finger double domain
- DEAD/H-box RNA helicase binding
- SP6-9_N
Pathways
Biological processes and signaling networks where the SP7 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- desmoplastic small round cell tumor
- soft tissue sarcoma cancer
- osteogenesis imperfecta type XII
- schizophrenia
- osteopenia
- osteosarcoma
- osteosarcomagenesis
- sickle cell anemia
role in cell
- expression in
- number
- proliferation
- formation in
- migration
- differentiation
- development
- formation
- mineralization
- maturation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SP7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of stem cell differentiation
- cementum mineralization
- response to insulin stimulus
- diphosphate metabolic process
- osteoblast differentiation
- hemopoietic stem cell differentiation
- gene expression
- cellular response to zinc ion starvation
- response to organic cyclic compound
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- DEAD/H-box RNA helicase binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity