PRPF4

Chr 9q32

pre-mRNA splicing tri-snRNP complex factor PRPF4

Aliases:: Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60
MANE:: ENST00000374198.5

OMIM: 607795 ↗NCBI: 9128 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PRPF4 · O43172

v62025-08-01

Predicted Aligned Error matrix for PRPF4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.1/ 100

Confident

522 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)38%
Low(50–70)11%
Very low(< 50)8%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

retinitis pigmentosa
0.63
retinitis pigmentosa 70
0.58
Retinal dystrophy
0.33
neurodegenerative disease
0.20
inherited retinal dystrophy
0.18
colorectal carcinoma
0.07
glioblastoma
0.04
breast cancer
0.03
breast carcinoma
0.03
retinitis pigmentosa 1
0.03

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

Protein function (UniProt)

U4/U6 small nuclear ribonucleoprotein Prp4

Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex)