PURA

Chr 5q31.3

purine rich element binding protein A

Aliases:: PURALPHA, PUR1, PUR-ALPHA
MANE:: ENST00000331327.5

OMIM: 600473 ↗NCBI: 5813 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PURA · Q00577

v62025-08-01

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

Mean pLDDT

78.2/ 100

Confident

322 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)21%
Low(50–70)13%
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)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
0.78
Intellectual disability
0.71
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
0.58
hereditary disease
0.55
neurodegenerative disease
0.53
Global developmental delay
0.52
Delayed speech and language development
0.52
Neonatal hypotonia
0.52
Seizure
0.51
autosomal dominant non-syndromic intellectual disability
0.37

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

Protein function (UniProt)

Transcriptional activator protein Pur-alpha

This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene (PubMed:1448097, PubMed:20976240). May play a role in the initiation of DNA replication and in recombination