ZPR1
Function
Acts as a signaling molecule that communicates proliferative growth signals from the cytoplasm to the nucleus. It is involved in the positive regulation of cell cycle progression (PubMed:29851065). Plays a role for the localization and accumulation of the survival motor neuron protein SMN1 in sub-nuclear bodies, including gems and Cajal bodies. Induces neuron differentiation and stimulates axonal growth and formation of growth cone in spinal cord motor neurons. Plays a role in the splicing of cellular pre-mRNAs. May be involved in H(2)O(2)-induced neuronal cell death.
Involvement in disease
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
GKAF
An autosomal recessive disorder characterized by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, hydrocephalus, genital hypoplasia, and early mortality.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ZPR1 family.
Tissue Specificity
Expressed in fibroblast; weakly expressed in fibroblast of spinal muscular atrophy (SMA) patients.
Cellular localization
- Nucleus
- Nucleus
- Nucleolus
- Nucleus
- Gem
- Nucleus
- Cajal body
- Cytoplasm
- Perinuclear region
- Cytoplasm
- Cell projection
- Axon
- Cell projection
- Growth cone
- Colocalized with SMN1 in Gemini of coiled bodies (gems), Cajal bodies, axon and growth cones of neurons (By similarity). Localized predominantly in the cytoplasm in serum-starved cells growth arrested in G0 of the mitotic cell cycle. Localized both in the nucleus and cytoplasm at the G1 phase of the mitotic cell cycle. Accumulates in the subnuclear bodies during progression into the S phase of the mitotic cell cycle. Diffusely localized throughout the cell during mitosis. Colocalized with NPAT and SMN1 in nuclear bodies including gems (Gemini of coiled bodies) and Cajal bodies in a cell cycle-dependent manner. Translocates together with EEF1A1 from the cytoplasm to the nucleolus after treatment with mitogens. Colocalized with EGFR in the cytoplasm of quiescent cells. Translocates from the cytoplasm to the nucleus in a epidermal growth factor (EGF)-dependent manner.
Alternative names
ZNF259, ZPR1, Zinc finger protein ZPR1, Zinc finger protein 259