NPTX1

Chr 17q25.3

neuronal pentraxin 1

MANE:: ENST00000306773.5

OMIM: 602367 ↗NCBI: 4884 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NPTX1 · Q15818

v62025-08-01

Predicted Aligned Error matrix for NPTX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.8/ 100

Confident

432 residues

Confidence breakdown

Very high(≥ 90)45%
Confident(70–90)14%
Low(50–70)24%
Very low(< 50)17%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

spinocerebellar ataxia 50
0.61
Irritability
0.46
hereditary disease
0.34
morbid obesity
0.28
arthropathy
0.12
injury
0.11
Abnormality of the skeletal system
0.10
hepatocellular carcinoma
0.08
gastric cancer
0.08
melanoma
0.08

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

Protein function (UniProt)

Neuronal pentraxin-1

May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses