PRUNE1

Chr 1q21.3

prune exopolyphosphatase 1

Aliases:: DRES-17, HTCD37, H-PRUNE
MANE:: ENST00000271620.8

OMIM: 617413 ↗NCBI: 58497 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PRUNE1 · Q86TP1

v62025-08-01

Predicted Aligned Error matrix for PRUNE1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.3/ 100

Confident

453 residues

Confidence breakdown

Very high(≥ 90)75%
Confident(70–90)8%
Low(50–70)4%
Very low(< 50)14%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
0.80
hereditary disease
0.46
Abnormal brain morphology
0.38
obesity disorder
0.19
chronic rhinosinusitis with nasal polyps
0.17
hypothyroidism
0.12
atopic eczema
0.09
lung cancer
0.07
hepatocellular carcinoma
0.07
lung carcinoma
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Exopolyphosphatase PRUNE1

Exopolyphosphatase that catalyzes the hydrolysis of inorganic polyphosphates, with preference for short-chain substrates, as well as nucleoside 5'-tetraphosphates, releasing terminal phosphate residues (PubMed:18700747). Also exhibits phosphodiesterase activity toward cyclic nucleotides, hydrolyzing cAMP and cGMP to their corresponding 5'-monophosphates (PubMed:14998490, PubMed:17655525). Requires divalent metal ions for activity (PubMed:14998490, PubMed:18700747). Plays a role in cell proliferation, migration and differentiation, and acts as a negative regulator of NME1 (PubMed:10602478, PubMed:11687967, PubMed:14998490, PubMed:16428445, PubMed:17906697). Plays a role in the regulation of neurogenesis. Involved in the regulation of microtubule polymerization (PubMed:28334956)