ZPR1 Gene Summary [Human]
The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Details
| Type | Protein Coding |
| Official Symbol | ZPR1 |
| Official Name | ZPR1 zinc finger [Source:HGNC Symbol;Acc:HGNC:13051] |
| Ensembl ID | ENSG00000109917 |
| Bio databases IDs | |
| Aliases | ZPR1 zinc finger |
| Synonyms | GKAF, RGD1562173, ZFP259, ZNF259, ZPR1 zinc finger |
| 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 ZPR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- receptor tyrosine kinase binding
- zinc ion binding
- ZPR1-type zinc finger domain
- B domain from ZPR1
- protein binding
- ZPR1 zinc-finger domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metabolic syndrome X
- myocardial infarction
- primary genetic hyperlipidemia
- coronary artery disease
- aortic aneurysm
- hypercholesterolemia
- androgenic alopecia
- essential hypertension
- lipoprotein lipase deficiency
- growth restriction, hypoplastic kidneys, alopecia and distinctive facies
role in cell
- degeneration
- cell cycle progression
- development
- organization
- growth
- loss
- myelination
- abnormality
- abnormal morphology
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
- Cytoplasm
- gems
- nucleoplasm
- nucleoli
- nuclear bodies
- coiled body
- Cajal bodies
- growth cone
- perikaryon
- axons
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ZPR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of growth
- positive regulation of protein import into nucleus
- RNA splicing
- signal transduction
- positive regulation of RNA splicing
- DNA replication
- positive regulation of cell cycle
- DNA endoreduplication
- mRNA processing
- microtubule cytoskeleton organization
- protein folding
- spinal cord development
- inner cell mass cell proliferation
- trophectodermal cell proliferation
- positive regulation of gene expression
- cellular response to epidermal growth factor stimulus
- regulation of myelination
- Cajal body organization
- negative regulation of motor neuron apoptotic process
Cellular Component
Where in the cell the gene product is active
- growth cone
- nucleus
- perinuclear region of cytoplasm
- cytoplasm
- Cajal body
- neuronal cell body
- perikaryon
- nucleolus
- axon
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- protein binding involved in protein folding
- translation initiation factor binding
- receptor tyrosine kinase binding