AlphaFold predicted structure
ZPR1 · O75312
Mean pLDDT
79.4/ 100
Confident
459 residues
Confidence breakdown
- Very high(≥ 90)34%
- Confident(70–90)42%
- Low(50–70)14%
- Very low(< 50)9%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ZPR1
Chr 11q23.3ZPR1 zinc finger
- MANE:
- ENST00000227322.8
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalHydrocephalus
BIALLELIC, autosomal or pseudoautosomalMonogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalMonogenic short stature
BIALLELIC, autosomal or pseudoautosomalOptic neuropathy
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalSevere microcephaly
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
0.50coronary artery disorder
0.48metabolic syndrome
0.45metabolic disease
0.44Hypercholesterolemia
0.44hyperlipidemia
0.43familial hyperlipidemia
0.43abdominal aortic aneurysm
0.40familial hypercholesterolemia
0.38hypertriglyceridemia
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Zinc finger protein ZPR1
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