FEZF1 Gene Summary [Human]
This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Details
| Type | Protein Coding |
| Official Symbol | FEZF1 |
| Official Name | FEZ family zinc finger 1 [Source:HGNC Symbol;Acc:HGNC:22788] |
| Ensembl ID | ENSG00000128610 |
| Bio databases IDs | |
| Aliases | FEZ family zinc finger 1 |
| Synonyms | 3110069A13Rik, FEZ, FEZ family zinc finger 1, fez-like, HH22, RGD1560480, Zfp312-like, ZNF312B |
| 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 FEZF1 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
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- nucleic acid binding
- double-stranded DNA binding
- Zinc-finger double domain
- protein binding
- sequence-specific DNA binding
- proline rich domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- gastric cancer
- Ewing sarcoma
- osteosarcomagenesis
- hypogonadotropic hypogonadism 22
- hypogonadotropic hypogonadism 22 with anosmia
regulated by
- cantharidin
- RNF20
role in cell
- expression in
- proliferation
- migration
- activation in
- differentiation
- abnormal morphology
- growth
- transcription in
- outgrowth
- guidance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FEZF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- positive regulation of transcription, DNA-dependent
- negative regulation of cell proliferation
- forebrain anterior/posterior pattern specification
- axon guidance
- positive regulation of neuron differentiation
- cell dedifferentiation
- olfactory bulb development
- regulation of neurogenesis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein 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 negative regulation of transcription