RP1L1

Chr 8p23.1

RP1 like 1

Aliases:: DCDC4B
MANE:: ENST00000382483.4

OMIM: 608581 ↗NCBI: 94137 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RP1L1 · Q8IWN7

v62025-08-01

Predicted Aligned Error matrix for RP1L1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

38.5/ 100

Very low

2,400 residues

Confidence breakdown

Very high(≥ 90)3%
Confident(70–90)8%
Low(50–70)4%
Very low(< 50)85%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

occult macular dystrophy
0.77
retinitis pigmentosa 88
0.68
retinitis pigmentosa
0.60
Retinal dystrophy
0.55
autosomal recessive retinitis pigmentosa
0.42
hypertensive disorder
0.40
optic atrophy
0.38
retinal disorder
0.36
risk-taking behaviour
0.28
type 1 diabetes nephropathy
0.28

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

Protein function (UniProt)

Retinitis pigmentosa 1-like 1 protein

Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity)