PROP1 Gene Summary [Human]
This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]
Details
| Type | Protein Coding |
| Official Symbol | PROP1 |
| Official Name | PROP paired-like homeobox 1 [Source:HGNC Symbol;Acc:HGNC:9455] |
| Ensembl ID | ENSG00000175325 |
| Bio databases IDs | |
| Aliases | PROP paired-like homeobox 1 |
| Synonyms | CPHD2, df, paired like homeodomain factor 1, PROP paired-like homeobox 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 PROP1 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
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- beta-catenin binding
- nucleic acid binding
- double-stranded DNA binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- dyspnea
- combined pituitary hormone deficiency type 2
- hereditary disorder
- hypoplasia
- combined pituitary hormone deficiency
- hypopituitarism
- dwarfism
- atelectasis
- proportional dwarfism
role in cell
- apoptosis
- differentiation
- development
- quantity
- expansion
- specification
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 PROP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- hypothalamus cell differentiation
- positive regulation of transcription from RNA polymerase II promoter
- somatotropin secreting cell differentiation
- dorsal/ventral pattern formation
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- central nervous system development
- blood vessel development
- hypophysis morphogenesis
- negative regulation of apoptotic process
- apoptotic process
- cell migration
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- 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
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- chromatin binding
- beta-catenin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity