FIGLA Gene Summary [Human]
This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis and those that encode the zona pellucida. Mutations in this gene cause premature ovarian failure type 6. [provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | FIGLA |
| Official Name | folliculogenesis specific bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:24669] |
| Ensembl ID | ENSG00000183733 |
| Bio databases IDs | |
| Aliases | folliculogenesis specific bHLH transcription factor, factor in the germline alpha |
| Synonyms | BHLHC8, FIGALPHA, Fig α, folliculogenesis specific basic helix-loop-helix, folliculogenesis specific bHLH transcription factor, POF6, RGD1564754 |
| 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 FIGLA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- basic Helix Loop Helix (bHLH) domain superfamily
- helix loop helix domain
- transcription factor binding
- protein binding
- Helix-loop-helix DNA-binding domain
- sequence-specific DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive premature ovarian failure type 6
- premature ovarian failure type 6
- autosomal dominant premature ovarian failure type 6
- familial premature ovarian failure
- preeclampsia
role in cell
- expression in
- number
- apoptosis
- disruption
- disruption in
- quantity
- depletion
- meiosis
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FIGLA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- oocyte development
- positive regulation of transcription from RNA polymerase II promoter
- developmental process
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- protein dimerization activity
- E-box binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- bHLH transcription factor binding