SUFU Gene Summary [Human]
The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | SUFU |
| Official Name | SUFU negative regulator of hedgehog signaling [Source:HGNC Symbol;Acc:HGNC:16466] |
| Ensembl ID | ENSG00000107882 |
| Bio databases IDs | |
| Aliases | SUFU negative regulator of hedgehog signaling |
| Synonyms | BCNS2, JBTS32, PRO1280, Su, SUFUH, SUFU negative regulator of hedgehog signaling, SUFUXL |
| 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 SUFU often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- Suppressor of fused protein (SUFU)
- protein kinase binding
- beta-catenin binding
- Suppressor of Fused Gli/Ci N terminal binding domain
- transcription co-repressor
- transcription factor binding
- protein binding
- zDHHC ankyrin repeat binding domain
Pathways
Biological processes and signaling networks where the SUFU 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
- cancer
- major depression
- head and neck neoplasia
- head and neck cancer
- basal cell nevus syndrome
- medulloblastoma
- brain cancer
- growth failure
- schizophrenia
- lipopolysaccharide-induced lung injury
role in cell
- expression in
- phosphorylation in
- growth
- generation in
- binding in
- activation in
- signaling in
- inhibition in
- differentiation
- number
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
- nuclear fraction
- motile cilia
- ciliary tip
- Cytoplasm
- cilia
- cytosol
- nucleoplasm
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SUFU gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of protein import into nucleus
- signal transduction
- spermatid development
- ventricular septum development
- positive regulation of cellular response to drug
- smoothened signaling pathway involved in ventral spinal cord interneuron specification
- coronary vasculature development
- smoothened signaling pathway involved in spinal cord motor neuron cell fate specification
- regulation of transcription, DNA-dependent
- negative regulation of sequence-specific DNA binding transcription factor activity
- cytoplasmic sequestering of transcription factor
- negative regulation of smoothened signaling pathway
- skin development
- negative regulation of osteoblast differentiation
- negative regulation of transcription from RNA polymerase II promoter
- neural tube closure
- aorta development
- heart looping
- negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein binding
- transcription corepressor activity
- transcription factor binding
- beta-catenin binding