GRHL1 Gene Summary [Human]
This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq, Jun 2009]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | GRHL1 |
| Official Name | grainyhead like transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:17923] |
| Ensembl ID | ENSG00000134317 |
| Bio databases IDs | |
| Aliases | grainyhead like transcription factor 1, mammalian grainyhead |
| Synonyms | Grainyhead, grainyhead-like transcription factor 1, LBP-32, LOC108351211, LOC686566, MGR, NH32, Tcfcp2l2, TFCP2L2 |
| 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 GRHL1 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
- transcription regulator
- nucleic acid binding
- transcription factor binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
- zDHHC ankyrin repeat binding domain
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- protein homodimerization
- transcription factor activity
- CP2 transcription factor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- epithelial cancer
- epithelial basal cell carcinoma
- breast carcinoma
- prostatic carcinoma
- prostate cancer
- Down syndrome
- obsessive-compulsive disorder
regulates
- RNA polymerase II
- DNA promoter
- DNA endogenous promoter
- GRHL1
role in cell
- differentiation
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
- intracellular membrane-bounded organelle
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GRHL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of keratinocyte differentiation
- desmosome organization
- epidermis development
- positive regulation of transcription from RNA polymerase II promoter
- establishment of skin barrier
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- intracellular membrane-bounded organelle
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- identical protein binding
- protein homodimerization activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription 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
- sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity