GRHL3 Gene Summary [Human]
This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]
Details
| Type | Protein Coding |
| Official Symbol | GRHL3 |
| Official Name | grainyhead like transcription factor 3 [Source:HGNC Symbol;Acc:HGNC:25839] |
| Ensembl ID | ENSG00000158055 |
| Bio databases IDs | |
| Aliases | grainyhead like transcription factor 3, sister-of-mammalian grainyhead |
| Synonyms | AI561912, ct, Get1, grainyhead-like transcription factor 3, SOM, TFCP2L4, VWS2 |
| 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 GRHL3 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
- double-stranded DNA binding
- nucleic acid binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- CP2 transcription factor
- 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
- isolated cleft palate
- hereditary disorder
- van der Woude syndrome type 2
- spina bifida
- cleft palate
- lung adenocarcinoma
- lung adenocarcinoma formation
- eyelids open at birth
- exencephaly
- epidermal hyperplasia
role in cell
- expression in
- proliferation
- differentiation
- morphology
- organization
- abnormal morphology
- size
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
- cilia
- actin cytoskeleton
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GRHL3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- planar cell polarity pathway involved in neural tube closure
- cochlea morphogenesis
- epidermis development
- transcription from RNA polymerase II promoter
- pattern specification process
- ectoderm development
- positive regulation of transcription from RNA polymerase II promoter
- eyelid development in camera-type eye
- establishment of skin barrier
- regulation of transcription from RNA polymerase II promoter
- wound healing
- regulation of actin cytoskeleton organization
- central nervous system development
- neural tube closure
- positive regulation of gene expression
- establishment of planar polarity
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- protein 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
- sequence-specific DNA binding RNA polymerase II transcription factor activity