RP1

Chr 8q11.23-q12.1

RP1 axonemal microtubule associated

Aliases:: DCDC4A, ORP1
MANE:: ENST00000220676.2

OMIM: 603937 ↗NCBI: 6101 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

RP1 · P56715

v62025-08-01

Predicted Aligned Error matrix for RP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

37.4/ 100

Very low

2,156 residues

Confidence breakdown

Very high(≥ 90)4%
Confident(70–90)6%
Low(50–70)2%
Very low(< 50)87%

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
Glaucoma (developmental)
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

retinitis pigmentosa
0.82
retinitis pigmentosa 1
0.74
Retinal dystrophy
0.61
autosomal recessive retinitis pigmentosa
0.52
RP1-related recessive retinopathy
0.52
hereditary disease
0.47
Cone rod dystrophy
0.47
cone-rod dystrophy
0.46
retinal disorder
0.46
eye disorder
0.41

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

Protein function (UniProt)

Microtubule-associated protein RP/EB family member 2

Adapter protein that is involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. Therefore, ensures mitotic progression and genome stability (PubMed:27030108). Acts as a central regulator of microtubule reorganization in apico-basal epithelial differentiation (By similarity). Plays a role during oocyte meiosis by regulating microtubule dynamics (By similarity). Participates in neurite growth by interacting with plexin B3/PLXNB3 and microtubule reorganization during apico-basal epithelial differentiation (PubMed:22373814). Also plays an essential role for cell migration and focal adhesion dynamics. Mechanistically, recruits HAX1 to microtubules in order to regulate focal adhesion dynamics (PubMed:26527684)

Curated MONDO disease pages that list RP1 among their top associated genes.

retinitis pigmentosaRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with RP1