ZNF259

ZPR1 (ZPR1 Zinc Finger) is a Protein Coding gene. Diseases associated with ZPR1 include Spinal Muscular Atrophy and Muscular Atrophy. Among its related pathways are Translational Control. Gene Ontology (GO) annotations related to this gene include receptor tyrosine kinase binding and translation initiation factor binding.

Full Name

ZNF259

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 H2O2-induced neuronal cell death.

Biological Process

Biological Process apoptotic process involved in development Source:UniProtKB
Biological Process axon development Source:UniProtKB1 Publication
Biological Process Cajal body organization Source:UniProtKB1 Publication
Biological Process cell population proliferation Source:GO_Central1 Publication
Biological Process cellular response to epidermal growth factor stimulus Source:UniProtKB1 Publication
Biological Process DNA endoreduplication Source:UniProtKB
Biological Process inner cell mass cell proliferation Source:Ensembl
Biological Process microtubule cytoskeleton organization Source:UniProtKB
Biological Process mRNA processing Source:UniProtKB-KW
Biological Process negative regulation of motor neuron apoptotic process Source:UniProtKB
Biological Process positive regulation of cell cycle Source:UniProtKB1 Publication
Biological Process positive regulation of gene expression Source:UniProtKB1 Publication
Biological Process positive regulation of growth Source:UniProtKB
Biological Process positive regulation of protein import into nucleus Source:UniProtKB1 Publication
Biological Process positive regulation of RNA splicing Source:UniProtKB1 Publication
Biological Process positive regulation of transcription involved in G1/S transition of mitotic cell cycle Source:UniProtKB1 Publication
Biological Process pre-mRNA catabolic process Source:UniProtKB1 Publication
Biological Process regulation of myelination Source:UniProtKB
Biological Process RNA splicing Source:UniProtKB-KW
Biological Process signal transduction Source:ProtInc1 Publication
Biological Process spinal cord development Source:UniProtKB
Biological Process trophectodermal cell proliferation Source:UniProtKB

Cellular Location

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.

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.