POU1F1 Gene Summary [Human]
This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | POU1F1 |
| Official Name | POU class 1 homeobox 1 [Source:HGNC Symbol;Acc:HGNC:9210] |
| Ensembl ID | ENSG00000064835 |
| Bio databases IDs | |
| Aliases | POU class 1 homeobox 1, growth hormone factor 1, pituitary transcript factor 1 |
| Synonyms | CPHD1, dw, dwarf, GHF-1, GHF1A, Hmp1, PIT1, Pit1b, PIT1-RS1, PIT1Z, POU1F1a, POU class 1 homeobox 1, POU domain, class 1, transcription factor 1 |
| 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 POU1F1 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 activation domain
- transcription factor binding
- chromatin binding
- linker domain
- protein binding
- sequence-specific DNA binding
- DNA binding
- phosphorylation site
- RNA binding
- Pou domain - N-terminal to homeobox domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- AF-1 domain
- double-stranded DNA binding
- POU specific domain
- Pka phosphorylation site
- homeodomain
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- combined pituitary hormone deficiency type 1
- prostate cancer
- hereditary disorder
- isolated pituitary hormone deficiency type 1
- soft tissue sarcoma cancer
- Tourette syndrome
- combined pituitary hormone deficiency
- weight loss
- combined or isolated pituitary hormone deficiency type 1
- Leber congenital amaurosis type 5
role in cell
- proliferation
- differentiation
- quantity
- specification
- transactivation in
- mineralization
- incorporation in
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
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POU1F1 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
- negative regulation of cell proliferation
- adenohypophysis development
- regulation of transcription, DNA-dependent
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- 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 RNA polymerase II transcription factor activity